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Gene: Bbs1 (Bardet-Biedl syndrome 1) Mus musculus

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Symbol:

Bbs1

Name:

Bardet-Biedl syndrome 1

RGD ID:

1316859

MGI Page

MGI

Description:

Enables phosphoprotein binding activity and signaling receptor binding activity. Involved in cilium assembly; fat cell differentiation; and regulation of cilium beat frequency involved in ciliary motility. Acts upstream of or within several processes, including nervous system development; non-motile cilium assembly; and olfactory behavior. Located in centriolar satellite and motile cilium. Part of BBSome. Is expressed in central nervous system; metanephros; and retina. Used to study Bardet-Biedl syndrome 1 and obesity. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 1. Orthologous to human BBS1 (Bardet-Biedl syndrome 1).

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

AI451249; Bardet-Biedl syndrome 1 (human); Bardet-Biedl syndrome 1 homolog; Bardet-Biedl syndrome 1 protein homolog; BBSome complex member BBS1; D19Ertd609; D19Ertd609e

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Homo sapiens (human):	BBS1 (Bardet-Biedl syndrome 1)	HGNC	Ensembl, HGNC, Inparanoid, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Bbs1 (Bardet-Biedl syndrome 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chinchilla lanigera (long-tailed chinchilla):	Bbs1 (Bardet-Biedl syndrome 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Pan paniscus (bonobo/pygmy chimpanzee):	BBS1 (Bardet-Biedl syndrome 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Canis lupus familiaris (dog):	BBS1 (Bardet-Biedl syndrome 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Bbs1 (Bardet-Biedl syndrome 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Sus scrofa (pig):	BBS1 (Bardet-Biedl syndrome 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chlorocebus sabaeus (green monkey):	BBS1 (Bardet-Biedl syndrome 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Heterocephalus glaber (naked mole-rat):	Bbs1 (Bardet-Biedl syndrome 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Bbs1 (Bardet-Biedl syndrome 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Homo sapiens (human):	BBS1 (Bardet-Biedl syndrome 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	bbs1 (Bardet-Biedl syndrome 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	BBS1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	bbs-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	bbs1	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)

Latest Assembly:

GRCm39 - Mouse Genome Assembly GRCm39

Position:

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	19	4,936,906 - 4,956,681 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	19	4,936,906 - 4,956,656 (-)	Ensembl		GRCm39 Ensembl
GRCm38	19	4,886,878 - 4,906,653 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	19	4,886,878 - 4,906,628 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	19	4,886,882 - 4,906,627 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	19	4,889,158 - 4,906,612 (-)	NCBI		MGSCv36	mm8
Celera	19	4,757,796 - 4,779,714 (-)	NCBI		Celera
Cytogenetic Map	19	A	NCBI
cM Map	19	4.14	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Bbs1	Mouse	Bardet-Biedl syndrome		ISO	RGD:1316858	1579969	DNA:mutations: :multiple (human)	RGD
Bbs1	Mouse	hyperinsulinism		IMP		243065268		RGD
Bbs1	Mouse	obesity	no_association	ISO	RGD:1316858	1601314	DNA:mutation: :p.M390R (human)	RGD
Bbs1	Mouse	obesity		IMP		243065268		RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Bbs1	Mouse	Aicardi-Goutieres Syndrome 3		ISO	RGD:1316858	8554872	ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3	ClinVar	PMID:28492532
Bbs1	Mouse	Bardet-Biedl syndrome		ISO	RGD:1316858	8554872	ClinVar Annotator: match by term: Bardet-Biedl syndrome	ClinVar	PMID:10564830\|PMID:12118255\|PMID:12524598\|PMID:12567324\|PMID:12677556\|PMID:12837689\|PMID:12872256\|PMID:12920096\|PMID:15314642\|PMID:15666242\|PMID:15770229\|PMID:16199547\|PMID:16327777\|PMID:16786513\|PMID:16877420\|PMID:17003356\|PMID:17065520\|PMID:17576681\|PMID:17980398\|PMID:18032602\|PMID:18327255\|PMID:18669544\|PMID:18766993\|PMID:19763152\|PMID:19797195\|PMID:19858128\|PMID:20120035\|PMID:20177705\|PMID:20301537\|PMID:20307669\|PMID:20472660\|PMID:20498079\|PMID:20876674\|PMID:21052717\|PMID:21209035\|PMID:21258341\|PMID:21344540\|PMID:21517826\|PMID:21520335\|PMID:21642631\|PMID:22406018\|PMID:22410627\|PMID:22581970\|PMID:22773737\|PMID:22940089\|PMID:22998390\|PMID:23143442\|PMID:23432027\|PMID:23559858\|PMID:23565731\|PMID:23847139\|PMID:23943788\|PMID:24033266\|PMID:24400638\|PMID:24611592\|PMID:24746959\|PMID:25074776\|PMID:25170860\|PMID:25326635\|PMID:25525159\|PMID:25640679\|PMID:25741868\|PMID:25780760\|PMID:25982971\|PMID:25988237\|PMID:26022370\|PMID:26082521\|PMID:26261414\|PMID:26325558\|PMID:26467025\|PMID:26518167\|PMID:26872967\|PMID:27032803\|PMID:27434533\|PMID:27486776\|PMID:27624628\|PMID:27659767\|PMID:27788217\|PMID:27884173\|PMID:27894351\|PMID:28041643\|PMID:28143435\|PMID:28224992\|PMID:28341476\|PMID:28492532\|PMID:28559085\|PMID:28838317\|PMID:28991257\|PMID:29099798\|PMID:29191167\|PMID:29264490\|PMID:29588463\|PMID:29974258\|PMID:30076350\|PMID:30142598\|PMID:30259503\|PMID:30337596\|PMID:30484961\|PMID:30609409\|PMID:30614526\|PMID:30718709\|PMID:31028937\|PMID:31130284\|PMID:31196119\|PMID:31328266\|PMID:31370859\|PMID:31429209\|PMID:31456290\|PMID:31506453\|PMID:31534736\|PMID:31589614\|PMID:31836858\|PMID:3196484\|PMID:31964843\|PMID:31980526\|PMID:31997113\|PMID:32037395\|PMID:32165824\|PMID:32349990\|PMID:32451492\|PMID:32483926\|PMID:32531858\|PMID:32552793\|PMID:32581362\|PMID:32949114\|PMID:33015405\|PMID:33169370\|PMID:33369054\|PMID:33532864\|PMID:33594065\|PMID:33749171\|PMID:33851411\|PMID:33910932\|PMID:34327195\|PMID:34426522\|PMID:34448047\|PMID:34526762\|PMID:34716235\|PMID:34732400\|PMID:34758253\|PMID:34792930\|PMID:34906171\|PMID:34906470\|PMID:34940782\|PMID:35055178\|PMID:35112343\|PMID:35119454\|PMID:35314707\|PMID:35456422\|PMID:35481623\|PMID:35692835\|PMID:35695966\|PMID:35835773\|PMID:35886001\|PMID:3646071\|PMID:36460718\|PMID:36474027\|PMID:36819107\|PMID:36909829\|PMID:8316268\|PMID:9536098
Bbs1	Mouse	Bardet-Biedl syndrome 1		ISO	RGD:1316858	8554872	ClinVar Annotator: match by term: BBS1-related condition \| ClinVar Annotator: match by term: Bardet-Biedl syndrome more ...	ClinVar	PMID:10564830\|PMID:12118255\|PMID:12524598\|PMID:12567324\|PMID:12677556\|PMID:12837689\|PMID:12872256\|PMID:12920096\|PMID:15314642\|PMID:15666242\|PMID:15770229\|PMID:16199547\|PMID:16327777\|PMID:16582908\|PMID:16877420\|PMID:17003356\|PMID:17065520\|PMID:17576681\|PMID:17980398\|PMID:18032602\|PMID:18327255\|PMID:18669544\|PMID:18766993\|PMID:19797195\|PMID:19858128\|PMID:20120035\|PMID:20177705\|PMID:20301537\|PMID:20472660\|PMID:20498079\|PMID:20876674\|PMID:21052717\|PMID:21258341\|PMID:21344540\|PMID:21517826\|PMID:21520335\|PMID:21642631\|PMID:22353939\|PMID:22410627\|PMID:22581970\|PMID:22773737\|PMID:22940089\|PMID:22998390\|PMID:23143442\|PMID:23432027\|PMID:23559858\|PMID:23565731\|PMID:23847139\|PMID:23943788\|PMID:24033266\|PMID:24400638\|PMID:24611592\|PMID:24746959\|PMID:25074776\|PMID:25170860\|PMID:25326635\|PMID:25525159\|PMID:25741868\|PMID:25780760\|PMID:25982971\|PMID:25988237\|PMID:26022370\|PMID:26261414\|PMID:26325558\|PMID:26467025\|PMID:26518167\|PMID:26566502\|PMID:26872967\|PMID:27032803\|PMID:27434533\|PMID:27624628\|PMID:27659767\|PMID:27788217\|PMID:27884173\|PMID:27894351\|PMID:28041643\|PMID:28143435\|PMID:28224992\|PMID:28341476\|PMID:28492532\|PMID:28559085\|PMID:28838317\|PMID:29191167\|PMID:29264490\|PMID:29588463\|PMID:29974258\|PMID:30076350\|PMID:30142598\|PMID:30259503\|PMID:30337596\|PMID:30484961\|PMID:30609409\|PMID:30614526\|PMID:30718709\|PMID:31028937\|PMID:31130284\|PMID:31196119\|PMID:31213501\|PMID:31328266\|PMID:31370859\|PMID:31429209\|PMID:31456290\|PMID:31534736\|PMID:31589614\|PMID:31836858\|PMID:3196484\|PMID:31964843\|PMID:31980526\|PMID:31997113\|PMID:32037395\|PMID:32165824\|PMID:32349990\|PMID:32451492\|PMID:32483926\|PMID:32531858\|PMID:32552793\|PMID:32581362\|PMID:32949114\|PMID:33015405\|PMID:33169370\|PMID:33369054\|PMID:33532864\|PMID:33594065\|PMID:33749171\|PMID:33851411\|PMID:33910932\|PMID:34327195\|PMID:34426522\|PMID:34448047\|PMID:34526762\|PMID:34716235\|PMID:34732400\|PMID:34758253\|PMID:34792930\|PMID:34906171\|PMID:34906470\|PMID:34940782\|PMID:35055178\|PMID:35112343\|PMID:35119454\|PMID:35314707\|PMID:35456422\|PMID:35481623\|PMID:35692835\|PMID:35695966\|PMID:35835773\|PMID:35886001\|PMID:36460718\|PMID:36474027\|PMID:36819107\|PMID:36909829\|PMID:9536098
Bbs1	Mouse	Bardet-Biedl Syndrome 1/7, Digenic		ISO	RGD:1316858	8554872	ClinVar Annotator: match by term: Bardet-Biedl syndrome 1/7, digenic	ClinVar	PMID:12567324\|PMID:12677556\|PMID:20498079\|PMID:25741868\|PMID:27884173\|PMID:27894351\|PMID:28492532\|PMID:29191167
Bbs1	Mouse	congenital muscular dystrophy-dystroglycanopathy type A13		ISO	RGD:1316858	8554872	ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	ClinVar	PMID:22219654\|PMID:28492532
Bbs1	Mouse	fundus dystrophy		ISO	RGD:1316858	8554872	ClinVar Annotator: match by term: Retinal dystrophy	ClinVar	PMID:12118255\|PMID:12524598\|PMID:12677556\|PMID:12837689\|PMID:12920096\|PMID:15314642\|PMID:15770229\|PMID:16199547\|PMID:17003356\|PMID:17065520\|PMID:17576681\|PMID:17980398\|PMID:18032602\|PMID:18327255\|PMID:18669544\|PMID:18766993\|PMID:19797195\|PMID:20120035\|PMID:20177705\|PMID:20301537\|PMID:20472660\|PMID:20498079\|PMID:21052717\|PMID:21344540\|PMID:21520335\|PMID:21642631\|PMID:22581970\|PMID:22773737\|PMID:22940089\|PMID:22998390\|PMID:23143442\|PMID:23432027\|PMID:23565731\|PMID:23847139\|PMID:23943788\|PMID:24033266\|PMID:25074776\|PMID:25326635\|PMID:25525159\|PMID:25741868\|PMID:25780760\|PMID:25982971\|PMID:25988237\|PMID:26022370\|PMID:26261414\|PMID:26325558\|PMID:26467025\|PMID:26872967\|PMID:27032803\|PMID:27659767\|PMID:27788217\|PMID:28041643\|PMID:28224992\|PMID:28492532\|PMID:28559085\|PMID:28838317\|PMID:29264490\|PMID:29974258\|PMID:30076350\|PMID:30142598\|PMID:30259503\|PMID:30337596\|PMID:30484961\|PMID:30609409\|PMID:30614526\|PMID:30718709\|PMID:31028937\|PMID:31196119\|PMID:31213501\|PMID:31370859\|PMID:31429209\|PMID:31456290\|PMID:31589614\|PMID:3196484\|PMID:31964843\|PMID:31980526\|PMID:32037395\|PMID:32451492\|PMID:32483926\|PMID:32531858\|PMID:32581362\|PMID:33015405\|PMID:33169370\|PMID:33369054\|PMID:33532864\|PMID:33749171\|PMID:33851411\|PMID:33910932\|PMID:34327195\|PMID:34426522\|PMID:34448047\|PMID:34526762\|PMID:34716235\|PMID:34732400\|PMID:34758253\|PMID:34792930\|PMID:34906171\|PMID:34940782\|PMID:35055178\|PMID:35112343\|PMID:35119454\|PMID:35314707\|PMID:35456422\|PMID:35481623\|PMID:35695966\|PMID:35835773\|PMID:35886001\|PMID:3646071\|PMID:36460718\|PMID:36474027\|PMID:36819107\|PMID:36909829\|PMID:9536098
Bbs1	Mouse	genetic disease		ISO	RGD:1316858	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:12118255\|PMID:12524598\|PMID:12677556\|PMID:12837689\|PMID:15314642\|PMID:15770229\|PMID:16327777\|PMID:17576681\|PMID:17980398\|PMID:18032602\|PMID:18669544\|PMID:18766993\|PMID:20177705\|PMID:20301537\|PMID:20498079\|PMID:21052717\|PMID:21344540\|PMID:21517826\|PMID:21520335\|PMID:21642631\|PMID:22410627\|PMID:22581970\|PMID:22940089\|PMID:22998390\|PMID:23143442\|PMID:23565731\|PMID:23847139\|PMID:23943788\|PMID:24033266\|PMID:24746959\|PMID:25074776\|PMID:25326635\|PMID:25525159\|PMID:25741868\|PMID:25982971\|PMID:25988237\|PMID:26022370\|PMID:26325558\|PMID:26467025\|PMID:26872967\|PMID:27032803\|PMID:27659767\|PMID:27788217\|PMID:28041643\|PMID:28341476\|PMID:28492532\|PMID:28559085\|PMID:28838317\|PMID:29264490\|PMID:29588463\|PMID:29974258\|PMID:30142598\|PMID:30337596\|PMID:30484961\|PMID:30609409\|PMID:30614526\|PMID:30718709\|PMID:31028937\|PMID:31370859\|PMID:31429209\|PMID:31456290\|PMID:31589614\|PMID:31964843\|PMID:31980526\|PMID:32037395\|PMID:32349990\|PMID:32483926\|PMID:32531858\|PMID:32581362\|PMID:33015405\|PMID:33169370\|PMID:33369054\|PMID:33532864\|PMID:33594065\|PMID:33749171\|PMID:33851411\|PMID:33910932\|PMID:34327195\|PMID:34448047\|PMID:34526762\|PMID:34716235\|PMID:34732400\|PMID:34758253\|PMID:34792930\|PMID:34906171\|PMID:34906470\|PMID:34940782\|PMID:35112343\|PMID:35119454\|PMID:35314707\|PMID:35456422\|PMID:35692835\|PMID:35695966\|PMID:35835773\|PMID:35886001\|PMID:36460718\|PMID:36474027\|PMID:36819107\|PMID:36909829\|PMID:9536098
Bbs1	Mouse	glycogen storage disease V		ISO	RGD:1316858	8554872	ClinVar Annotator: match by term: Glycogen storage disease, type V	ClinVar	PMID:12118255\|PMID:16786513\|PMID:21520335\|PMID:27032803\|PMID:28492532\|PMID:8316268
Bbs1	Mouse	immunodeficiency 90		ISO	RGD:1316858	8554872	ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations	ClinVar	PMID:28492532
Bbs1	Mouse	intellectual disability		ISO	RGD:1316858	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar
Bbs1	Mouse	retinitis pigmentosa		ISO	RGD:1316858	8554872	ClinVar Annotator: match by term: Retinitis pigmentosa \| ClinVar Annotator: match by term: Tapetoretinal degeneration	ClinVar	PMID:12118255\|PMID:12524598\|PMID:12677556\|PMID:12837689\|PMID:15314642\|PMID:15770229\|PMID:16327777\|PMID:17576681\|PMID:17980398\|PMID:18032602\|PMID:18669544\|PMID:18766993\|PMID:20120035\|PMID:20177705\|PMID:20301537\|PMID:20498079\|PMID:21052717\|PMID:21344540\|PMID:21517826\|PMID:21520335\|PMID:21642631\|PMID:22410627\|PMID:22581970\|PMID:22773737\|PMID:22940089\|PMID:22998390\|PMID:23143442\|PMID:23565731\|PMID:23847139\|PMID:23943788\|PMID:24033266\|PMID:24746959\|PMID:25326635\|PMID:25741868\|PMID:26261414\|PMID:26467025\|PMID:26872967\|PMID:27032803\|PMID:27659767\|PMID:28041643\|PMID:28143435\|PMID:28492532\|PMID:29264490\|PMID:29588463\|PMID:30614526\|PMID:30718709\|PMID:33532864\|PMID:34526762\|PMID:34906470\|PMID:36474027\|PMID:36909829\|PMID:9536098
Bbs1	Mouse	retinitis pigmentosa		ISO	RGD:1316858	8554872	ClinVar Annotator: match by term: Retinitis pigmentosa	ClinVar	PMID:12118255\|PMID:12524598\|PMID:12677556\|PMID:12837689\|PMID:15314642\|PMID:15770229\|PMID:16327777\|PMID:17576681\|PMID:17980398\|PMID:18032602\|PMID:18669544\|PMID:18766993\|PMID:20120035\|PMID:20177705\|PMID:20301537\|PMID:20498079\|PMID:21052717\|PMID:21344540\|PMID:21517826\|PMID:21520335\|PMID:21642631\|PMID:22410627\|PMID:22581970\|PMID:22773737\|PMID:22940089\|PMID:22998390\|PMID:23143442\|PMID:23565731\|PMID:23847139\|PMID:23943788\|PMID:24033266\|PMID:24746959\|PMID:25326635\|PMID:25741868\|PMID:25982971\|PMID:26022370\|PMID:26261414\|PMID:26325558\|PMID:26467025\|PMID:26872967\|PMID:27032803\|PMID:27659767\|PMID:27788217\|PMID:28041643\|PMID:28143435\|PMID:28492532\|PMID:28559085\|PMID:28838317\|PMID:29264490\|PMID:29588463\|PMID:29974258\|PMID:30142598\|PMID:30337596\|PMID:30484961\|PMID:30609409\|PMID:30614526\|PMID:30718709\|PMID:31028937\|PMID:31370859\|PMID:31429209\|PMID:31456290\|PMID:31589614\|PMID:31964843\|PMID:31980526\|PMID:32037395\|PMID:32483926\|PMID:32531858\|PMID:32581362\|PMID:33015405\|PMID:33169370\|PMID:33369054\|PMID:33532864\|PMID:33749171\|PMID:33851411\|PMID:33910932\|PMID:34327195\|PMID:34426522\|PMID:34448047\|PMID:34526762\|PMID:34716235\|PMID:34732400\|PMID:34758253\|PMID:34792930\|PMID:34906171\|PMID:34906470\|PMID:34940782\|PMID:35112343\|PMID:35119454\|PMID:35456422\|PMID:35695966\|PMID:35835773\|PMID:35886001\|PMID:36460718\|PMID:36474027\|PMID:36819107\|PMID:36909829\|PMID:9536098
Bbs1	Mouse	Usher syndrome		ISO	RGD:1316858	8554872	ClinVar Annotator: match by term: Usher syndrome	ClinVar	PMID:12118255\|PMID:12524598\|PMID:12677556\|PMID:12837689\|PMID:15314642\|PMID:17980398\|PMID:18032602\|PMID:18669544\|PMID:18766993\|PMID:20301537\|PMID:20498079\|PMID:21052717\|PMID:21642631\|PMID:22581970\|PMID:22940089\|PMID:22998390\|PMID:23143442\|PMID:23565731\|PMID:23847139\|PMID:23943788\|PMID:24033266\|PMID:25326635\|PMID:25741868\|PMID:25982971\|PMID:26022370\|PMID:26325558\|PMID:26467025\|PMID:26872967\|PMID:27032803\|PMID:27659767\|PMID:27788217\|PMID:28041643\|PMID:28492532\|PMID:28559085\|PMID:28838317\|PMID:29264490\|PMID:29974258\|PMID:30142598\|PMID:30337596\|PMID:30484961\|PMID:30609409\|PMID:30614526\|PMID:30718709\|PMID:31028937\|PMID:31370859\|PMID:31429209\|PMID:31456290\|PMID:31589614\|PMID:31964843\|PMID:31980526\|PMID:32037395\|PMID:32483926\|PMID:32531858\|PMID:32581362\|PMID:33015405\|PMID:33169370\|PMID:33369054\|PMID:33532864\|PMID:33749171\|PMID:33851411\|PMID:33910932\|PMID:34327195\|PMID:34448047\|PMID:34526762\|PMID:34716235\|PMID:34732400\|PMID:34758253\|PMID:34792930\|PMID:34906171\|PMID:34940782\|PMID:35112343\|PMID:35119454\|PMID:35456422\|PMID:35695966\|PMID:35835773\|PMID:35886001\|PMID:36460718\|PMID:36474027\|PMID:36819107\|PMID:36909829

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Bbs1	Mouse	Bardet-Biedl syndrome 1		ISO	RGD:1316858	11554173	CTD Direct Evidence: marker/mechanism	CTD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Bbs1	Mouse	Bardet-Biedl syndrome 1		IAGP		13592920	OMIM:209900	MouseDO
Bbs1	Mouse	obesity		IAGP		13592920	OMIM:601665	MouseDO

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Bbs1	Mouse	Bardet-Biedl syndrome 1		ISO	RGD:1316858	7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Bbs1	Mouse	17alpha-ethynylestradiol	multiple interactions	EXP		6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of BBS1 mRNA	CTD	PMID:17942748
Bbs1	Mouse	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	EXP		6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of BBS1 mRNA	CTD	PMID:17942748
Bbs1	Mouse	3-isobutyl-1-methyl-7H-xanthine	multiple interactions	ISO	RGD:1316858	6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] more ...	CTD	PMID:28628672
Bbs1	Mouse	4-hydroxyphenyl retinamide	increases expression	EXP		6480464	Fenretinide results in increased expression of BBS1 mRNA	CTD	PMID:28973697
Bbs1	Mouse	6-propyl-2-thiouracil	increases expression	ISO	RGD:1307581	6480464	Propylthiouracil results in increased expression of BBS1 mRNA	CTD	PMID:24780913
Bbs1	Mouse	acrylamide	increases expression	ISO	RGD:1307581	6480464	Acrylamide results in increased expression of BBS1 mRNA	CTD	PMID:28959563
Bbs1	Mouse	acrylamide	decreases expression	ISO	RGD:1316858	6480464	Acrylamide results in decreased expression of BBS1 mRNA	CTD	PMID:32763439
Bbs1	Mouse	acrylamide	increases expression	EXP		6480464	Acrylamide results in increased expression of BBS1 mRNA	CTD	PMID:30807115
Bbs1	Mouse	aflatoxin B1	increases expression	EXP		6480464	Aflatoxin B1 results in increased expression of BBS1 mRNA	CTD	PMID:19770486
Bbs1	Mouse	aflatoxin B1	increases expression	ISO	RGD:1316858	6480464	Aflatoxin B1 results in increased expression of BBS1 mRNA	CTD	PMID:21641981
Bbs1	Mouse	atrazine	decreases expression	ISO	RGD:1316858	6480464	Atrazine results in decreased expression of BBS1 mRNA	CTD	PMID:22378314
Bbs1	Mouse	benzo[a]pyrene	affects methylation	ISO	RGD:1316858	6480464	Benzo(a)pyrene affects the methylation of BBS1 promoter	CTD	PMID:27901495
Bbs1	Mouse	beta-lapachone	decreases expression	ISO	RGD:1316858	6480464	beta-lapachone results in decreased expression of BBS1 mRNA	CTD	PMID:38218311
Bbs1	Mouse	bis(2-ethylhexyl) phthalate	increases expression	EXP		6480464	Diethylhexyl Phthalate results in increased expression of BBS1 mRNA	CTD	PMID:34319233
Bbs1	Mouse	bisphenol A	affects expression	ISO	RGD:1307581	6480464	bisphenol A affects the expression of BBS1 mRNA	CTD	PMID:25181051
Bbs1	Mouse	bisphenol A	decreases expression	ISO	RGD:1307581	6480464	bisphenol A results in decreased expression of BBS1 mRNA	CTD	PMID:30816183\|PMID:32528016\|PMID:34947998
Bbs1	Mouse	bisphenol F	multiple interactions	ISO	RGD:1316858	6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] more ...	CTD	PMID:28628672
Bbs1	Mouse	butanal	decreases expression	ISO	RGD:1316858	6480464	butyraldehyde results in decreased expression of BBS1 mRNA	CTD	PMID:26079696
Bbs1	Mouse	C60 fullerene	increases expression	ISO	RGD:1307581	6480464	fullerene C60 results in increased expression of BBS1 mRNA	CTD	PMID:19167457
Bbs1	Mouse	cadmium dichloride	increases expression	ISO	RGD:1316858	6480464	Cadmium Chloride results in increased expression of BBS1 protein	CTD	PMID:24527689
Bbs1	Mouse	carbon nanotube	decreases expression	EXP		6480464	Nanotubes, Carbon analog results in decreased expression of BBS1 mRNA; Nanotubes, Carbon results in decreased more ...	CTD	PMID:25554681
Bbs1	Mouse	chlorpyrifos	decreases expression	EXP		6480464	Chlorpyrifos results in decreased expression of BBS1 mRNA	CTD	PMID:37019170
Bbs1	Mouse	cisplatin	increases expression	ISO	RGD:1316858	6480464	Cisplatin results in increased expression of BBS1 mRNA	CTD	PMID:27392435
Bbs1	Mouse	cisplatin	multiple interactions	ISO	RGD:1316858	6480464	[Cisplatin co-treated with jinfukang] results in increased expression of BBS1 mRNA	CTD	PMID:27392435
Bbs1	Mouse	cobalt dichloride	decreases expression	ISO	RGD:1307581	6480464	cobaltous chloride results in decreased expression of BBS1 mRNA	CTD	PMID:24386269
Bbs1	Mouse	copper(II) sulfate	decreases expression	ISO	RGD:1316858	6480464	Copper Sulfate results in decreased expression of BBS1 mRNA	CTD	PMID:19549813
Bbs1	Mouse	coumestrol	multiple interactions	ISO	RGD:1316858	6480464	[Coumestrol co-treated with resveratrol] results in decreased expression of BBS1 mRNA	CTD	PMID:19167446
Bbs1	Mouse	cyclosporin A	decreases expression	ISO	RGD:1316858	6480464	Cyclosporine results in decreased expression of BBS1 mRNA	CTD	PMID:25562108
Bbs1	Mouse	dexamethasone	multiple interactions	ISO	RGD:1316858	6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] more ...	CTD	PMID:28628672
Bbs1	Mouse	dicrotophos	increases expression	ISO	RGD:1316858	6480464	dicrotophos results in increased expression of BBS1 mRNA	CTD	PMID:28302478
Bbs1	Mouse	doxorubicin	decreases expression	ISO	RGD:1316858	6480464	Doxorubicin results in decreased expression of BBS1 mRNA	CTD	PMID:29803840
Bbs1	Mouse	ethyl methanesulfonate	increases expression	ISO	RGD:1316858	6480464	Ethyl Methanesulfonate results in increased expression of BBS1 mRNA	CTD	PMID:23649840
Bbs1	Mouse	folic acid	decreases expression	EXP		6480464	Folic Acid results in decreased expression of BBS1 mRNA	CTD	PMID:25629700
Bbs1	Mouse	formaldehyde	increases expression	ISO	RGD:1316858	6480464	Formaldehyde results in increased expression of BBS1 mRNA	CTD	PMID:23649840
Bbs1	Mouse	indometacin	multiple interactions	ISO	RGD:1316858	6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] more ...	CTD	PMID:28628672
Bbs1	Mouse	methyl methanesulfonate	increases expression	ISO	RGD:1316858	6480464	Methyl Methanesulfonate results in increased expression of BBS1 mRNA	CTD	PMID:23649840
Bbs1	Mouse	methylmercury chloride	decreases expression	ISO	RGD:1316858	6480464	methylmercuric chloride results in decreased expression of BBS1 mRNA	CTD	PMID:28001369
Bbs1	Mouse	okadaic acid	decreases expression	ISO	RGD:1316858	6480464	Okadaic Acid results in decreased expression of BBS1 mRNA	CTD	PMID:38832940
Bbs1	Mouse	ozone	multiple interactions	EXP		6480464	[Air Pollutants results in increased abundance of Ozone] which results in increased expression of BBS1 more ...	CTD	PMID:27106289
Bbs1	Mouse	paracetamol	increases expression	ISO	RGD:1316858	6480464	Acetaminophen results in increased expression of BBS1 mRNA	CTD	PMID:26690555
Bbs1	Mouse	paracetamol	increases expression	ISO	RGD:1307581	6480464	Acetaminophen results in increased expression of BBS1 mRNA	CTD	PMID:33387578
Bbs1	Mouse	resveratrol	multiple interactions	ISO	RGD:1316858	6480464	[Coumestrol co-treated with resveratrol] results in decreased expression of BBS1 mRNA	CTD	PMID:19167446
Bbs1	Mouse	thioacetamide	decreases expression	ISO	RGD:1307581	6480464	Thioacetamide results in decreased expression of BBS1 mRNA	CTD	PMID:34492290

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Bbs1	Mouse	adult behavior	acts_upstream_of_or_within	IMP	MGI:3767672	2290270	PMID:18032602	MGI	PMID:18032602
Bbs1	Mouse	brain morphogenesis	acts_upstream_of_or_within	IMP	MGI:3767672	2290270	PMID:18032602	MGI	PMID:18032602
Bbs1	Mouse	cartilage development	acts_upstream_of_or_within	IMP	MGI:3767672	2290270	PMID:19195025	MGI	PMID:19195025
Bbs1	Mouse	cerebral cortex development	acts_upstream_of_or_within	IMP	MGI:3767672	2290270	PMID:18032602	MGI	PMID:18032602
Bbs1	Mouse	cilium assembly	involved_in	IMP		2290270	PMID:18299575	BHF-UCL	PMID:18299575
Bbs1	Mouse	cilium assembly	acts_upstream_of_or_within	IMP	MGI:3767672	2290270	PMID:18032602	MGI	PMID:18032602
Bbs1	Mouse	cilium assembly	acts_upstream_of_or_within	IMP		2290270	PMID:27979967	MGI	PMID:27979967
Bbs1	Mouse	cilium assembly	involved_in	ISO	UniProtKB:Q8NFJ9	2290270		GO_Central	GO_REF:0000119
Bbs1	Mouse	cilium assembly	involved_in	NAS		2290270	PMID:19081074	ComplexPortal	PMID:19081074
Bbs1	Mouse	dendrite development	acts_upstream_of_or_within	IMP	MGI:3055491	2290270	PMID:15322545	MGI	PMID:15322545
Bbs1	Mouse	fat cell differentiation	involved_in	IEP		2290270	PMID:17379567	BHF-UCL	PMID:17379567
Bbs1	Mouse	fertilization	acts_upstream_of_or_within	IMP	MGI:3767672	2290270	PMID:18032602	MGI	PMID:18032602
Bbs1	Mouse	Golgi to plasma membrane protein transport	acts_upstream_of_or_within	ISO	UniProtKB:Q8NFJ9	2290270	PMID:19150989	MGI	PMID:19150989
Bbs1	Mouse	hippocampus development	acts_upstream_of_or_within	IMP	MGI:3767672	2290270	PMID:18032602	MGI	PMID:18032602
Bbs1	Mouse	hormone metabolic process	acts_upstream_of_or_within	IMP	MGI:3767672	2290270	PMID:18032602	MGI	PMID:18032602
Bbs1	Mouse	intraciliary retrograde transport	acts_upstream_of_or_within	ISO	UniProtKB:Q9NEZ7	2290270	PMID:22922713	MGI	PMID:22922713
Bbs1	Mouse	lipid metabolic process	acts_upstream_of_or_within	IMP	MGI:3767672	2290270	PMID:18032602	MGI	PMID:18032602
Bbs1	Mouse	microtubule cytoskeleton organization	acts_upstream_of_or_within	IMP	MGI:3055491	2290270	PMID:15322545	MGI	PMID:15322545
Bbs1	Mouse	neural precursor cell proliferation	acts_upstream_of_or_within	IMP	MGI:3767672	2290270	PMID:23160237	MGI	PMID:23160237
Bbs1	Mouse	neuron migration	acts_upstream_of_or_within	IMP	MGI:3055491	2290270	PMID:21471969	MGI	PMID:21471969
Bbs1	Mouse	non-motile cilium assembly	involved_in	IBA	PANTHER:PTN000466746\|MGI:1277215\|UniProtKB:Q8NFJ9\|WB:WBGene00000241	2290270		GO_Central	GO_REF:0000033
Bbs1	Mouse	non-motile cilium assembly	acts_upstream_of_or_within	IMP	MGI:3767672	2290270	PMID:19195025	MGI	PMID:19195025
Bbs1	Mouse	non-motile cilium assembly	acts_upstream_of_or_within	IMP	MGI:3055491	2290270	PMID:15322545, PMID:16170314	MGI	PMID:15322545\|PMID:16170314
Bbs1	Mouse	non-motile cilium assembly	acts_upstream_of_or_within	IGI	MGI:2135272	2290270	PMID:16170314	MGI	PMID:16170314
Bbs1	Mouse	non-motile cilium assembly	involved_in	ISO	UniProtKB:Q8NFJ9	2290270		GO_Central	GO_REF:0000119
Bbs1	Mouse	olfactory behavior	acts_upstream_of_or_within	IMP	MGI:3767672	2290270	PMID:18032602	MGI	PMID:18032602
Bbs1	Mouse	photoreceptor cell maintenance	involved_in	ISO	UniProtKB:Q8NFJ9	2290270		GO_Central	GO_REF:0000119
Bbs1	Mouse	photoreceptor cell maintenance	involved_in	IEA	UniProtKB:Q8NFJ9\|ensembl:ENSP00000317469	2290270		Ensembl	GO_REF:0000107
Bbs1	Mouse	photoreceptor cell morphogenesis	acts_upstream_of_or_within	IMP	MGI:3767672	2290270	PMID:18032602	MGI	PMID:18032602
Bbs1	Mouse	protein localization	acts_upstream_of_or_within	IMP	MGI:3767672	2290270	PMID:22228099	MGI	PMID:22228099
Bbs1	Mouse	protein localization	acts_upstream_of_or_within	IMP		2290270	PMID:31302159	MGI	PMID:31302159
Bbs1	Mouse	protein localization to cilium	involved_in	IBA	PANTHER:PTN000466746\|UniProtKB:Q8NFJ9\|WB:WBGene00000241	2290270		GO_Central	GO_REF:0000033
Bbs1	Mouse	protein localization to cilium	acts_upstream_of_or_within	ISO	UniProtKB:Q9NEZ7	2290270	PMID:22922713	MGI	PMID:22922713
Bbs1	Mouse	regulation of cilium beat frequency involved in ciliary motility	involved_in	IMP		2290270	PMID:18299575	BHF-UCL	PMID:18299575
Bbs1	Mouse	response to endoplasmic reticulum stress	acts_upstream_of_or_within	IMP		2290270	PMID:31302159	MGI	PMID:31302159
Bbs1	Mouse	retina development in camera-type eye	acts_upstream_of_or_within	IMP		2290270	PMID:31302159	MGI	PMID:31302159
Bbs1	Mouse	retina homeostasis	acts_upstream_of_or_within	IMP	MGI:3055491	2290270	PMID:15322545	MGI	PMID:15322545
Bbs1	Mouse	sensory perception of smell	acts_upstream_of_or_within	IMP	MGI:3055491	2290270	PMID:15322545	MGI	PMID:15322545
Bbs1	Mouse	striatum development	acts_upstream_of_or_within	IMP	MGI:3767672	2290270	PMID:18032602	MGI	PMID:18032602
Bbs1	Mouse	ventricular system development	acts_upstream_of_or_within	IMP	MGI:3767672\|MGI:4837746\|MGI:5474481	2290270	PMID:23160237	MGI	PMID:23160237
Bbs1	Mouse	visual perception	acts_upstream_of_or_within	IMP		2290270	PMID:38155679	MGI	PMID:38155679

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Bbs1	Mouse	axoneme	is_active_in	IBA	PANTHER:PTN000466746\|WB:WBGene00000241	2290270		GO_Central	GO_REF:0000033
Bbs1	Mouse	BBSome	part_of	IBA	PANTHER:PTN000466746\|MGI:1277215\|UniProtKB:Q8NFJ9	2290270		GO_Central	GO_REF:0000033
Bbs1	Mouse	BBSome	part_of	ISO	UniProtKB:Q8NFJ9	2290270		MGI	GO_REF:0000008\|GO_REF:0000119
Bbs1	Mouse	BBSome	part_of	IDA		2290270	PMID:20080638, PMID:22072986, PMID:22500027	MGI	PMID:20080638\|PMID:22072986\|PMID:22500027
Bbs1	Mouse	BBSome	part_of	ISO	ComplexPortal:CPX-1908	2290270		ComplexPortal	GO_REF:0000114
Bbs1	Mouse	centriolar satellite	located_in	IDA		2290270	PMID:27979967	MGI	PMID:27979967
Bbs1	Mouse	centrosome	located_in	ISO	UniProtKB:Q8NFJ9	2290270		GO_Central	GO_REF:0000119
Bbs1	Mouse	centrosome	located_in	IDA		2290270	PMID:21471969	MGI	PMID:21471969
Bbs1	Mouse	centrosome	is_active_in	IBA	PANTHER:PTN001074745\|MGI:1277215\|UniProtKB:Q8NFJ9	2290270		GO_Central	GO_REF:0000033
Bbs1	Mouse	ciliary basal body	located_in	ISO	UniProtKB:Q9NEZ7	2290270	PMID:22922713	MGI	PMID:22922713
Bbs1	Mouse	ciliary membrane	located_in	ISO	ComplexPortal:CPX-1908	2290270		ComplexPortal	GO_REF:0000114
Bbs1	Mouse	ciliary membrane	located_in	ISO	UniProtKB:Q8NFJ9	2290270		GO_Central	GO_REF:0000119
Bbs1	Mouse	cilium	located_in	IDA		2290270	PMID:27979967	MGI	PMID:27979967
Bbs1	Mouse	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	2290270		UniProt	GO_REF:0000044
Bbs1	Mouse	motile cilium	located_in	IMP		2290270	PMID:18299575	BHF-UCL	PMID:18299575

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Bbs1	Mouse	patched binding	enables	ISO	UniProtKB:Q8NFJ9	2290270		MGI	GO_REF:0000008
Bbs1	Mouse	patched binding	enables	IBA	PANTHER:PTN000466746\|UniProtKB:Q8NFJ9	2290270		GO_Central	GO_REF:0000033
Bbs1	Mouse	phosphoprotein binding	enables	IPI	PR:Q811T9-1	2290270	PMID:21471969	MGI	PMID:21471969
Bbs1	Mouse	protein binding	enables	IPI	PR:Q8BMD2\|PR:Q8C1Z7\|PR:Q9R0L6	2290270	PMID:27979967	MGI	PMID:27979967
Bbs1	Mouse	protein binding	enables	IPI	UniProtKB:Q99497	2290270	PMID:21097510	ParkinsonsUK-UCL	PMID:21097510
Bbs1	Mouse	protein binding	enables	IPI	UniProtKB:Q8C1Z7	2290270	PMID:17574030, PMID:20080638, PMID:22139371, PMID:22500027	IntAct	PMID:17574030\|PMID:20080638\|PMID:22139371\|PMID:22500027
Bbs1	Mouse	RNA polymerase II-specific DNA-binding transcription factor binding	enables	ISO	UniProtKB:Q8NFJ9	2290270		MGI	GO_REF:0000008
Bbs1	Mouse	signaling receptor binding	enables	IPI	UniProtKB:P48356-1	2290270	PMID:19150989	BHF-UCL	PMID:19150989
Bbs1	Mouse	signaling receptor binding	enables	IPI	PR:P48356	2290270	PMID:19150989	MGI	PMID:19150989
Bbs1	Mouse	smoothened binding	enables	IBA	PANTHER:PTN000466746\|UniProtKB:Q8NFJ9	2290270		GO_Central	GO_REF:0000033
Bbs1	Mouse	smoothened binding	enables	ISO	UniProtKB:Q8NFJ9	2290270		MGI	GO_REF:0000008

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Bbs1	Mouse	abnormal blood vessel morphology		IEA		5509061		MGI
Bbs1	Mouse	abnormal cone electrophysiology		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	abnormal ependyma motile cilium morphology		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	abnormal eye electrophysiology		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	abnormal eye morphology		IEA		5509061		MGI
Bbs1	Mouse	abnormal fat pad morphology		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	abnormal neuronal precursor proliferation		IAGP		5509061		MGI	PMID:23160237
Bbs1	Mouse	abnormal olfactory epithelium cilium morphology		IAGP		5509061		MGI	PMID:15322545
Bbs1	Mouse	abnormal olfactory sensory neuron morphology		IAGP		5509061		MGI	PMID:15322545
Bbs1	Mouse	abnormal orientation of outer hair cell stereociliary bundles		IAGP		5509061		MGI	PMID:16170314
Bbs1	Mouse	abnormal outer hair cell stereociliary bundle morphology		IAGP		5509061		MGI	PMID:16170314
Bbs1	Mouse	abnormal photoreceptor outer segment morphology		IAGP		5509061		MGI	PMID:26216965
Bbs1	Mouse	abnormal placenta morphology		IEA		5509061		MGI
Bbs1	Mouse	abnormal placenta vasculature		IEA		5509061		MGI
Bbs1	Mouse	abnormal retina photoreceptor morphology		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	abnormal rod electrophysiology		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	absent sperm flagellum		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	anophthalmia		IEA		5509061		MGI
Bbs1	Mouse	decreased aggression towards mice		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	decreased birth body size		IAGP		5509061		MGI	PMID:15322545
Bbs1	Mouse	decreased dendritic spine density		IAGP		5509061		MGI	PMID:31479441
Bbs1	Mouse	decreased locomotor activity		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	decreased neuronal precursor proliferation		IAGP		5509061		MGI	PMID:23160237
Bbs1	Mouse	decreased striatum size		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	dilated brain ventricle		IAGP		5509061		MGI	PMID:23160237
Bbs1	Mouse	dilated lateral ventricle		IAGP		5509061		MGI	PMID:23160237
Bbs1	Mouse	disorganized photoreceptor inner segment		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	disorganized photoreceptor outer segment		IAGP		5509061		MGI	PMID:26216965
Bbs1	Mouse	edema		IEA		5509061		MGI
Bbs1	Mouse	embryonic lethality during organogenesis, incomplete penetrance		IAGP		5509061		MGI	PMID:15322545
Bbs1	Mouse	embryonic lethality during organogenesis, incomplete penetrance		IAGP		5509061		MGI	PMID:16170314
Bbs1	Mouse	enlarged lateral ventricles		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	enlarged third ventricle		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	hydrocephaly		IAGP		5509061		MGI	PMID:23160237
Bbs1	Mouse	impaired olfaction		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	increased brown adipose tissue amount		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	increased circulating leptin level		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	increased food intake		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	increased heart rate		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	increased neuron apoptosis		IAGP		5509061		MGI	PMID:23160237
Bbs1	Mouse	increased total body fat amount		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	male infertility		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	microphthalmia		IEA		5509061		MGI
Bbs1	Mouse	obese		IAGP		5509061		MGI	PMID:15322545
Bbs1	Mouse	obese		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	photoreceptor inner segment degeneration		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	preweaning lethality, complete penetrance		IEA		5509061		MGI
Bbs1	Mouse	retina degeneration		IAGP		5509061		MGI	PMID:15322545
Bbs1	Mouse	retina outer nuclear layer degeneration		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	small hippocampus		IAGP		5509061		MGI	PMID:18032602
Bbs1	Mouse	thin cerebral cortex		IAGP		5509061		MGI	PMID:18032602

#	Reference Title	Reference Citation
1.	Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population.	Fan Y, etal., Int J Obes Relat Metab Disord. 2004 May;28(5):680-4.
2.	MGDs mouse GO annotations	MGD data from the GO Consortium
3.	MGD IEA	MGD IEA
4.	Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).	Mykytyn K, etal., Am J Hum Genet. 2003 Feb;72(2):429-37. Epub 2003 Jan 10.
5.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
6.	Mouse MP Annotation Import Pipeline	RGD automated import pipeline
7.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
9.	BBSome ablation in SF1 neurons causes obesity without comorbidities.	Rouabhi M, etal., Mol Metab. 2021 Jun;48:101211. doi: 10.1016/j.molmet.2021.101211. Epub 2021 Mar 13.

PMID:10349636	PMID:10725249	PMID:10922068	PMID:11042159	PMID:11076861	PMID:11217851	PMID:12466851	PMID:12477932	PMID:14610273	PMID:15322545	PMID:16141072	PMID:16141073
PMID:16170314	PMID:16602821	PMID:16823392	PMID:17379567	PMID:17574030	PMID:17959775	PMID:18032602	PMID:18299575	PMID:18799693	PMID:19081074	PMID:19150989	PMID:19195025
PMID:20080638	PMID:20843830	PMID:21097510	PMID:21267068	PMID:21471969	PMID:21873635	PMID:22072986	PMID:22110077	PMID:22139371	PMID:22228099	PMID:22500027	PMID:22922713
PMID:23160237	PMID:23900607	PMID:24691443	PMID:24939912	PMID:25504142	PMID:26103456	PMID:26216965	PMID:26540106	PMID:26926121	PMID:27979967	PMID:29971011	PMID:30665891
PMID:31127052	PMID:31216194	PMID:31302159	PMID:31479441	PMID:32290105	PMID:32433491	PMID:33027675	PMID:33630762	PMID:33664503	PMID:33886537	PMID:34303879	PMID:34383976
PMID:35771640	PMID:35882560	PMID:36534590	PMID:36699005	PMID:37909854	PMID:37998397	PMID:38155679	PMID:38355793	PMID:38738295

Bbs1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	19	4,936,906 - 4,956,681 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	19	4,936,906 - 4,956,656 (-)	Ensembl		GRCm39 Ensembl
GRCm38	19	4,886,878 - 4,906,653 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	19	4,886,878 - 4,906,628 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	19	4,886,882 - 4,906,627 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	19	4,889,158 - 4,906,612 (-)	NCBI		MGSCv36	mm8
Celera	19	4,757,796 - 4,779,714 (-)	NCBI		Celera
Cytogenetic Map	19	A	NCBI
cM Map	19	4.14	NCBI

BBS1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	66,510,635 - 66,533,598 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	66,510,606 - 66,533,613 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	66,278,106 - 66,301,069 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	66,034,695 - 66,057,660 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	66,034,694 - 66,057,660	NCBI
Celera	11	63,598,354 - 63,621,361 (+)	NCBI		Celera
Cytogenetic Map	11	q13.2	NCBI
HuRef	11	62,606,029 - 62,628,992 (+)	NCBI		HuRef
CHM1_1	11	66,161,845 - 66,184,809 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	66,506,874 - 66,529,839 (+)	NCBI		T2T-CHM13v2.0

Bbs1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	211,614,195 - 211,633,504 (-)	NCBI		GRCr8
mRatBN7.2	1	202,184,812 - 202,204,118 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	202,186,125 - 202,204,086 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	210,539,190 - 210,557,170 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	217,631,564 - 217,649,496 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	210,322,591 - 210,340,523 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	220,146,084 - 220,165,545 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	220,147,327 - 220,165,678 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	227,078,590 - 227,096,525 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	207,503,399 - 207,521,683 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	207,658,767 - 207,675,153 (-)	NCBI
Celera	1	199,725,764 - 199,743,588 (-)	NCBI		Celera
Cytogenetic Map	1	q43	NCBI

Bbs1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955422	18,825,756 - 18,844,036 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955422	18,825,756 - 18,843,820 (-)	NCBI	ChiLan1.0	ChiLan1.0

BBS1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	9	67,736,682 - 67,760,911 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	68,779,386 - 68,803,756 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	61,868,257 - 61,892,473 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	65,192,346 - 65,216,274 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	65,192,355 - 65,216,274 (+)	Ensembl	panpan1.1		panPan2

BBS1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	18	50,816,126 - 50,835,354 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	18	49,426,815 - 49,443,963 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	18	51,854,538 - 51,873,747 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	18	51,853,428 - 51,873,589 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	18	50,955,485 - 50,974,765 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	18	50,531,013 - 50,548,161 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	18	51,320,949 - 51,338,319 (-)	NCBI		UU_Cfam_GSD_1.0

Bbs1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	6,607,347 - 6,634,045 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936599	3,059,148 - 3,076,299 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936599	3,059,274 - 3,076,853 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

BBS1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	5,886,990 - 5,906,388 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	5,886,989 - 5,906,468 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	4,963,170 - 4,982,613 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

BBS1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	1	7,737,887 - 7,765,022 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	7,737,578 - 7,764,732 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	105,022,016 - 105,048,815 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Bbs1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624767	19,875,535 - 19,893,694 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624767	19,875,597 - 19,893,652 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in Bbs1
602 total Variants

Predicted Target Of

	Summary Value
Count of predictions:	1777
Count of miRNA genes:	754
Interacting mature miRNAs:	986
Transcripts:	ENSMUST00000053506
Prediction methods:	Miranda, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
4142302	Nstr1_m	nerve sheath tumor resistance QTL 1 (mouse)			Not determined		19	1	22371338	Mouse
1301271	Datd_m	dopamine transporter density (mouse)			Not determined		19	1	32340234	Mouse
1300923	Bits4_m	bitterness sensitivity 4 (mouse)			Not determined		19	3323216	37323348	Mouse
4142406	Pbctlp1_m	peripheral blood cytotoxic T lymphocyte percentage 1 (mouse)			Not determined			1	32875174	Mouse
1300776	Lfp3_m	long free running period 3 (mouse)			Not determined		19	1	20328703	Mouse
1300904	Chab5_m	cholesterol absorption 5 (mouse)			Not determined		19	1653764	35653927	Mouse
26884385	Skwq14_m	skull length QTL 14, 16 week (mouse)					19	3250000	35877400	Mouse
1301800	Faq10_m	fluctuating asymmetry QTL 10 (mouse)			Not determined		19	3323216	37323348	Mouse
1300591	Pas3_m	pulmonary adenoma susceptibility 3 (mouse)			Not determined		19	3323216	37323348	Mouse
1302126	Skull26_m	skull morphology 26 (mouse)			Not determined		19	3323216	37323348	Mouse
4142161	Drinksac2_m	drink saccharin 2 (mouse)			Not determined			1	20695286	Mouse
1357819	Tgct2_m	testicular germ cell tumor 2 (mouse)			Not determined		19	3328551	20539663	Mouse

C86324

Mouse Assembly	Chr	Position (strand)	Source	JBrowse
GRCm38	19	4,907,240 - 4,907,456	UniSTS	GRCm38
MGSCv37	19	4,907,240 - 4,907,456	UniSTS	GRCm37
Celera	19	4,780,326 - 4,780,542	UniSTS
Cytogenetic Map	19	A	UniSTS
Whitehead/MRC_RH	19	59.73	UniSTS

AW821961

Mouse Assembly	Chr	Position (strand)	Source	JBrowse
GRCm38	19	4,907,365 - 4,907,612	UniSTS	GRCm38
MGSCv37	19	4,907,365 - 4,907,612	UniSTS	GRCm37
Celera	19	4,780,451 - 4,780,698	UniSTS
Cytogenetic Map	19	A	UniSTS
Whitehead/MRC_RH	19	60.35	UniSTS

AI451249

Mouse Assembly	Chr	Position (strand)	Source	JBrowse
GRCm38	19	4,887,132 - 4,887,211	UniSTS	GRCm38
MGSCv37	19	4,887,132 - 4,887,211	UniSTS	GRCm37
Celera	19	4,758,046 - 4,758,125	UniSTS
Cytogenetic Map	19	A	UniSTS
Whitehead/MRC_RH	19	65.1	UniSTS

UniSTS:237864

Mouse Assembly	Chr	Position (strand)	Source	JBrowse
GRCm38	19	4,889,294 - 4,889,514	UniSTS	GRCm38
MGSCv37	19	4,889,294 - 4,889,514	UniSTS	GRCm37
Celera	19	4,760,208 - 4,760,428	UniSTS
Cytogenetic Map	19	A	UniSTS

D19Ertd609e

Mouse Assembly	Chr	Position (strand)	Source	JBrowse
GRCm38	19	4,889,160 - 4,889,359	UniSTS	GRCm38
MGSCv37	19	4,889,160 - 4,889,359	UniSTS	GRCm37
Celera	19	4,760,074 - 4,760,273	UniSTS
Cytogenetic Map	19	A	UniSTS
cM Map	19		UniSTS

D10Mit157.2

Mouse Assembly	Chr	Position (strand)	Source
Cytogenetic Map	6	D1	UniSTS
Cytogenetic Map	16	B4	UniSTS
Cytogenetic Map	18	E2	UniSTS
Cytogenetic Map	4	C3	UniSTS
Cytogenetic Map	7	B2	UniSTS
Cytogenetic Map	4	D2.3	UniSTS
Cytogenetic Map	11	E1	UniSTS
Cytogenetic Map	14	E2.2	UniSTS
Cytogenetic Map	4	C7	UniSTS
Cytogenetic Map	2	H4	UniSTS
Cytogenetic Map	1	F	UniSTS
Cytogenetic Map	6	C3	UniSTS
Cytogenetic Map	11	D	UniSTS
Cytogenetic Map	3	G2	UniSTS
Cytogenetic Map	17	A1	UniSTS
Cytogenetic Map	9	F2	UniSTS
Cytogenetic Map	12	F1	UniSTS
Cytogenetic Map	19	C2	UniSTS
Cytogenetic Map	3	B	UniSTS
Cytogenetic Map	8	C1	UniSTS
Cytogenetic Map	18	A2	UniSTS
Cytogenetic Map	3	F2	UniSTS
Cytogenetic Map	14	C3	UniSTS
Cytogenetic Map	8	E1	UniSTS
Cytogenetic Map	8	E2	UniSTS
Cytogenetic Map	5	B1	UniSTS
Cytogenetic Map	18	B1	UniSTS
Cytogenetic Map	9	C	UniSTS
Cytogenetic Map	14	C2	UniSTS
Cytogenetic Map	6	A1	UniSTS
Cytogenetic Map	10	B4	UniSTS
Cytogenetic Map	13	D2.1	UniSTS
Cytogenetic Map	5	E5	UniSTS
Cytogenetic Map	11	B1.3	UniSTS
Cytogenetic Map	4	D1	UniSTS
Cytogenetic Map	9	A5.2	UniSTS
Cytogenetic Map	3	F1	UniSTS
Cytogenetic Map	17	E3	UniSTS
Cytogenetic Map	11	B3	UniSTS
Cytogenetic Map	1	H4	UniSTS
Cytogenetic Map	6	A3	UniSTS
Cytogenetic Map	5	E4-E5	UniSTS
Cytogenetic Map	15	E1	UniSTS
Cytogenetic Map	13	D	UniSTS
Cytogenetic Map	14	B	UniSTS
Cytogenetic Map	14	D1	UniSTS
Cytogenetic Map	7	B4	UniSTS
Cytogenetic Map	8	D3	UniSTS
Cytogenetic Map	X	D	UniSTS
Cytogenetic Map	17	A3.3	UniSTS
Cytogenetic Map	7	E2	UniSTS
Cytogenetic Map	1	H2.3	UniSTS
Cytogenetic Map	7	A2	UniSTS
Cytogenetic Map	7	F3	UniSTS
Cytogenetic Map	9	F1	UniSTS
Cytogenetic Map	10	C1	UniSTS
Cytogenetic Map	4	E2	UniSTS
Cytogenetic Map	16	A1	UniSTS
Cytogenetic Map	8	B3.3	UniSTS
Cytogenetic Map	8	D2	UniSTS
Cytogenetic Map	3	D	UniSTS
Cytogenetic Map	15	D2	UniSTS
Cytogenetic Map	17	B1	UniSTS
Cytogenetic Map	7	A3	UniSTS
Cytogenetic Map	15	F1	UniSTS
Cytogenetic Map	16	B2	UniSTS
Cytogenetic Map	7	C	UniSTS
Cytogenetic Map	3	F2.1	UniSTS
Cytogenetic Map	6	F3	UniSTS
Cytogenetic Map	1	C4	UniSTS
Cytogenetic Map	11	E2	UniSTS
Cytogenetic Map	11	B5	UniSTS
Cytogenetic Map	9	F3	UniSTS
Cytogenetic Map	2	B	UniSTS
Cytogenetic Map	13	B3	UniSTS
Cytogenetic Map	9	A4	UniSTS
Cytogenetic Map	5	A3	UniSTS
Cytogenetic Map	2	H1	UniSTS
Cytogenetic Map	16	B1	UniSTS
Cytogenetic Map	1	A5	UniSTS
Cytogenetic Map	11	C	UniSTS
Cytogenetic Map	9	E1	UniSTS
Cytogenetic Map	6	G1	UniSTS
Cytogenetic Map	X	A2	UniSTS
Cytogenetic Map	13	B1	UniSTS
Cytogenetic Map	5	E2	UniSTS
Cytogenetic Map	12	C1	UniSTS
Cytogenetic Map	5	F	UniSTS
Cytogenetic Map	4	D3	UniSTS
Cytogenetic Map	10	C2	UniSTS
Cytogenetic Map	9	B	UniSTS
Cytogenetic Map	5	G2	UniSTS
Cytogenetic Map	7	F1	UniSTS
Cytogenetic Map	12	C3	UniSTS
Cytogenetic Map	10	A4	UniSTS
Cytogenetic Map	8	A2	UniSTS
Cytogenetic Map	18	A1	UniSTS
Cytogenetic Map	12	A1.1	UniSTS
Cytogenetic Map	1	C2	UniSTS
Cytogenetic Map	11	B2	UniSTS
Cytogenetic Map	6	E3	UniSTS
Cytogenetic Map	5	C3.3	UniSTS
Cytogenetic Map	1	B	UniSTS
Cytogenetic Map	17	A3.1	UniSTS
Cytogenetic Map	7	A1	UniSTS
Cytogenetic Map	2	E5	UniSTS
Cytogenetic Map	11	A1	UniSTS
Cytogenetic Map	4	B1	UniSTS
Cytogenetic Map	15	A2	UniSTS
Cytogenetic Map	8	C3	UniSTS
Cytogenetic Map	2	A3	UniSTS
Cytogenetic Map	5	G3	UniSTS
Cytogenetic Map	4	A3	UniSTS
Cytogenetic Map	2	H3	UniSTS
Cytogenetic Map	8	A1	UniSTS
Cytogenetic Map	8	A1.1	UniSTS
Cytogenetic Map	16	A3	UniSTS
Cytogenetic Map	10	B1	UniSTS
Cytogenetic Map	19	A	UniSTS
Cytogenetic Map	10	A1	UniSTS
Cytogenetic Map	13	D1	UniSTS
Cytogenetic Map	4	A1	UniSTS
Cytogenetic Map	9	A3	UniSTS
Cytogenetic Map	17	C	UniSTS
Cytogenetic Map	1	D	UniSTS
Cytogenetic Map	5	E3	UniSTS
Cytogenetic Map	15	D3	UniSTS
Cytogenetic Map	2	H2	UniSTS
Cytogenetic Map	7	D3	UniSTS
Cytogenetic Map	2	A1	UniSTS
Cytogenetic Map	14	C1	UniSTS
Cytogenetic Map	14	E5	UniSTS
Cytogenetic Map	10	C	UniSTS
Cytogenetic Map	18	B2	UniSTS
Cytogenetic Map	2	F1	UniSTS
Cytogenetic Map	10	D3	UniSTS
Cytogenetic Map	17	A2	UniSTS
Cytogenetic Map	2	C3	UniSTS
Cytogenetic Map	1	C3	UniSTS
Cytogenetic Map	17	B2	UniSTS
Cytogenetic Map	5	B2	UniSTS
Cytogenetic Map	5	G1	UniSTS
Cytogenetic Map	4	C6	UniSTS
Cytogenetic Map	13	C3	UniSTS
Cytogenetic Map	2	E1	UniSTS
Cytogenetic Map	17	A3.2-A3.3	UniSTS
Cytogenetic Map	19	C3	UniSTS
Cytogenetic Map	7	E3	UniSTS
Cytogenetic Map	13	C1	UniSTS
Cytogenetic Map	9	E3.1	UniSTS
Cytogenetic Map	15	E3	UniSTS
Cytogenetic Map	6	B1	UniSTS
Cytogenetic Map	X	E3	UniSTS
Cytogenetic Map	4	C4	UniSTS
Cytogenetic Map	3	E3	UniSTS
Cytogenetic Map	11	A4	UniSTS
Cytogenetic Map	4	C5	UniSTS
Cytogenetic Map	18	B3	UniSTS
Cytogenetic Map	9	A2	UniSTS
Cytogenetic Map	7	E1	UniSTS
Cytogenetic Map	5	D-E1	UniSTS
Cytogenetic Map	5	B3	UniSTS
Cytogenetic Map	13	A2-A3	UniSTS
Cytogenetic Map	5	A2	UniSTS
Cytogenetic Map	4	B3	UniSTS
Cytogenetic Map	1	E4	UniSTS
Cytogenetic Map	17	E4	UniSTS
Cytogenetic Map	1	G2	UniSTS
Cytogenetic Map	15	B3.1	UniSTS
Cytogenetic Map	12	E	UniSTS
Cytogenetic Map	X	A5	UniSTS
Cytogenetic Map	6	A3.3	UniSTS
Cytogenetic Map	6	G3	UniSTS
Cytogenetic Map	6	F2	UniSTS
Cytogenetic Map	5	C1	UniSTS
Cytogenetic Map	4	D2.1	UniSTS
Cytogenetic Map	4	A5	UniSTS
Cytogenetic Map	3	F2.2	UniSTS
Cytogenetic Map	1	E3-E4	UniSTS
Cytogenetic Map	9	F1-F3	UniSTS
Cytogenetic Map	1	C1.1	UniSTS
Cytogenetic Map	14	D2	UniSTS
Cytogenetic Map	12	A2	UniSTS
Cytogenetic Map	17	A3-B	UniSTS
Cytogenetic Map	7	F5	UniSTS
Cytogenetic Map	14	A3	UniSTS
Cytogenetic Map	5	G1.1	UniSTS
Cytogenetic Map	X	F2-F4	UniSTS
Cytogenetic Map	7	D2	UniSTS
Cytogenetic Map	2	F3	UniSTS
Cytogenetic Map	10	A3	UniSTS
Cytogenetic Map	X	A7.3	UniSTS
Cytogenetic Map	9	F1-F2	UniSTS
Cytogenetic Map	13	A3.2	UniSTS
Cytogenetic Map	10	A2	UniSTS
Cytogenetic Map	1	C1	UniSTS
Cytogenetic Map	1	A1	UniSTS
Cytogenetic Map	12	D3	UniSTS
Cytogenetic Map	1	A3-A5	UniSTS
Cytogenetic Map	2	A2	UniSTS
Cytogenetic Map	3	A1	UniSTS
Cytogenetic Map	X	A3.3	UniSTS
Cytogenetic Map	16	A-B1	UniSTS
Cytogenetic Map	1	D2.3	UniSTS
Cytogenetic Map	6	B2.3	UniSTS
Cytogenetic Map	2	G3	UniSTS
Cytogenetic Map	X	A2-A3.1	UniSTS
Cytogenetic Map	9	A5.3	UniSTS
Cytogenetic Map	14	A2-B	UniSTS
Cytogenetic Map	8	E1-E2	UniSTS
Cytogenetic Map	8	A3	UniSTS
Cytogenetic Map	1	G3-H1	UniSTS
Cytogenetic Map	8	B3-C1	UniSTS
Cytogenetic Map	19	C1	UniSTS
Cytogenetic Map	8	C5	UniSTS
Cytogenetic Map	8	A4	UniSTS
Cytogenetic Map	15	F3	UniSTS
Cytogenetic Map	14	E4	UniSTS
Cytogenetic Map	4	D2.2	UniSTS
Cytogenetic Map	X	F5	UniSTS
cM Map	10	40.0	UniSTS
Whitehead Genetic	10	33.9	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.


RefSeq Transcripts	NM_001033128	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006531788	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC141437	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK037753	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK045850	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK161343	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK163815	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK168901	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC076577	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BY063920	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSMUST00000053506 ⟹ ENSMUSP00000055321

Type:

CODING

Position:

Mouse Assembly	Chr	Position (strand)	Source
GRCm39 Ensembl	19	4,936,906 - 4,956,656 (-)	Ensembl
GRCm38.p6 Ensembl	19	4,886,878 - 4,906,628 (-)	Ensembl

Ensembl Acc Id:

ENSMUST00000235498

Type:

CODING

Position:

Mouse Assembly	Chr	Position (strand)	Source
GRCm39 Ensembl	19	4,948,830 - 4,956,646 (-)	Ensembl
GRCm38.p6 Ensembl	19	4,898,802 - 4,906,618 (-)	Ensembl

Ensembl Acc Id:

ENSMUST00000236150

Type:

CODING

Position:

Mouse Assembly	Chr	Position (strand)	Source
GRCm39 Ensembl	19	4,942,915 - 4,947,745 (-)	Ensembl
GRCm38.p6 Ensembl	19	4,892,887 - 4,897,717 (-)	Ensembl

Ensembl Acc Id:

ENSMUST00000236538

Type:

CODING

Position:

Mouse Assembly	Chr	Position (strand)	Source
GRCm39 Ensembl	19	4,950,568 - 4,956,397 (-)	Ensembl
GRCm38.p6 Ensembl	19	4,900,540 - 4,906,369 (-)	Ensembl

Ensembl Acc Id:

ENSMUST00000237085 ⟹ ENSMUSP00000157393

Type:

CODING

Position:

Mouse Assembly	Chr	Position (strand)	Source
GRCm39 Ensembl	19	4,940,660 - 4,956,648 (-)	Ensembl
GRCm38.p6 Ensembl	19	4,890,632 - 4,906,620 (-)	Ensembl

Ensembl Acc Id:

ENSMUST00000237362 ⟹ ENSMUSP00000157728

Type:

CODING

Position:

Mouse Assembly	Chr	Position (strand)	Source
GRCm39 Ensembl	19	4,940,691 - 4,956,648 (-)	Ensembl
GRCm38.p6 Ensembl	19	4,890,663 - 4,906,620 (-)	Ensembl

Ensembl Acc Id:

ENSMUST00000237638

Type:

CODING

Position:

Mouse Assembly	Chr	Position (strand)	Source
GRCm39 Ensembl	19	4,951,468 - 4,956,655 (-)	Ensembl
GRCm38.p6 Ensembl	19	4,901,440 - 4,906,627 (-)	Ensembl

Ensembl Acc Id:

ENSMUST00000238170 ⟹ ENSMUSP00000157830

Type:

CODING

Position:

Mouse Assembly	Chr	Position (strand)	Source
GRCm39 Ensembl	19	4,940,511 - 4,956,656 (-)	Ensembl
GRCm38.p6 Ensembl	19	4,890,483 - 4,906,628 (-)	Ensembl

RefSeq Acc Id:

NM_001033128 ⟹ NP_001028300

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Mouse Assembly	Chr	Position (strand)	Source
GRCm39	19	4,936,910 - 4,956,655 (-)	NCBI
GRCm38	19	4,886,882 - 4,906,627 (-)	NCBI
MGSCv37	19	4,886,882 - 4,906,627 (-)	RGD
Celera	19	4,757,796 - 4,779,714 (-)	RGD
cM Map	19		ENTREZGENE

Sequence:

show sequence

GGTTGCCAAGGCGACGCCTGGGAAAATGGCTGCGGCGTCTTCATCGGATTCTGACAGCGGGCGAGCTGAGAGCAACGAAGCCAATTCTAAATGGCTGGACGCACACTACGACCCCATGGCCAACATCC
ACACCTTCTCCTCCTGCCTGTCACTGGCAGATTTGCATGGCGATGGGGAGTACAAGCTGGTGGTGGGAGACCTTGGCCCAGGTGGGCAGCAGCCCCGCCTGAAGGTGCTCAAAGGACCCACAGTGCTG
ACGGAGAGCCCACTGCCTGCCCTGCCAGCCTCGGCTGCCACCTTCCTCATGGACCAACACGAGCCCAGGACACCTGCCCTGGCACTCGCCTCAGGGCCTTGTGTCTATGTTTATAAGAACCTTAGACC
CTACTTCAAGTTCAGCCTGCCCCAGTTACCTCCAAACCCTTTGGAACAGGACGTTTGGAACCAAGCCAAAGAGGACCAGATTGACCCCTTAACCCTGAAGGAGATGCTGGAGGACATCAGGGAAAAGG
CAGACGTGCCTTTGTCTGTGCAGTCACTCAGGTTTCTGCAGCTGGAGCTGAGTGAAATGGAGGCGTTTGTGAACCAGCACAAGTCCAAGGTTATCAAGCGCCAGACAGTCATCACCACCATGACCACC
CTGAAGAAGAACCTGGCAGATGAGGACGCAGCGTCCTGTCTGGTGCTAGGCACTGAGAGCAAGGAACTCCTAGTGCTGGACCCTGAGGCCTTCACCATTTTGGCCAAGATGAGCCTGCCCAGTGTCCC
TGTCTTCCTGGAGGTTTCCGGCCAGTTTGATGTGGAGTTCCGGTTGACTGCTGCCTGCCGAAATGGGAGCATCTATATCCTGAGAAGAGACTCCAAACACCCCAAGTACTGCATCGAGTTGAGTGCCC
AGCCAGTGGGGCTGGTCCGGGTACACAAGGTCCTGGTGGTGGGCAGCACCCAAGAGAGTCTGCATGGCTTCACCCACAAGGGTAAGAAGCTGTGGACAGTGCAGATGCCTGCAGCCATCCTGACCATG
AACCTCCTGGAGCAGCGATCCCGAGGCCTGCAAGCTGTCATGGCTGCTCTGGCCAATGGGGAAGTCCGAATTTACCGAGACAAGGCCCTGCTCAATGTCATCCATGCCCCGGATGCAGTAACCAGCCT
GTGCTTTGGCCGATACGGGCGAGAAGACAACACCCTCATCATGACTACTAGAGGTGGCGGCCTGATCATCAAGATCCTGAAGCGCACAGCAGTGTTTGTGGAAGGGACGGGTGAGGTGGGCCCACCGC
TAGCACAGACCACAAAACTCAGTGTGCCCCGAAAGACCCGGCTGTATGTGGATCAGACCCTGCGGGAGCGGGAAGCTGGCACAGCCATGCACCGGACCTTCCAGACCGACCTCTACCTGCTGCGCCTG
CGAGCTGCCAGAGCCTATGTCCAGGCCCTGGAGTCCAGCCTGAGCCCCATGTCAACCACAGCTCGCGAGCCCCTCAAGCTGCATGCTGTGGTTCAAGGCCTGGGCCCCACCTTTAAGCTCACACTTCA
CCTGCAGAATACCTCAACGGCTCGACCCGTTCTGGGGCTGCATGTCTGCTTCCTGTACAACAAGGCGCTCTATGCCCTGCCTCAGGCTTTCTTTAAGGTTCCCTTGCTGGTACCAGGACTCAGTTACC
CACTGGAAACCTTTGTGGAGAGTCTCAGTAGCAAGGGCATCTCAGACATGATCAAGGTGCTAGTGCTTCGGGAAGGCCAGAGTGCTCCCCTGCTGAGTGCCCACATCAACATGCCTGTGAGTGAGGGT
CTGGCAGCTGCCTGAGCCCTGCGCCAGCATTCAAGTCTCCACAAACAAAATGGAGCCTTTCGGATTCAGTGACTTCCAGTATTGCCAGACTACTTCCCCCGGTAGCAATGTAGTGAGACAGCAGCTCC
CTGTTCTTCTCTGACACAGTCCCTTGCTCCCCACCTCTGCCAGTGACCTGAGCAACAAGACACGGGGTGCTCGGAATCAGCTCCTCCTCCTCGGAACCCACTCAAGCCCTGTCCCTCAGTTCCGGCTG
CCTGCTACTCCCCAGGTCCCAGGAAGAGATGTGAGGTGGTCAGGGCGAGCATAGCCTCAGTCCGTCCGTCCTTCCTTCCACTCACCTCTTTCAGATCAAGAGCACAGTTGATCGAGGGCTTAGATGTC
GGCTGGTACTGATCCTCTGCTGTCCTTTGAAGTTGCAGGGGTGTGGGTGCTGCCAGCTTGGTTTATAGGCACATGTGCTAAGCTTTCTCAACTGAAGAGGGGCTCCACTTTCTACCCTGAAGCCCAGG
AGTCATGGGGCTCTGTCCCCAGGTCCTAGACGAGCCACAGAGATTGCCAGAGGAGCTGGTGCCAGAAGTAGACGGGGTCCGTGTGAGGAGCTAGAGCCACACAGCCAGCAGCTGCTCCCGACATGGGT
GCTCATGGCCAGAGGCACTGTTCTGAAATGGAATGCGGAGCTAGATAGCGGAGCTGGGGCTGGTGGCACTGGGAGAGGTCTGGACCTGGGACCTGGGAAGTGACCCAAGAGGCAGATGCCGACAAGAG
CCTGTCAGAGTGCACTTAGGTCCAGGAGCCCGAGATGGTCCTGAGGGTGGAATGTTCACTGTGCAGTGGCCAGAAGATGCCTGAGCTCACGGAAAAGGTGCACACCAGGGGTGTGGCATAAAGCCGAA
GACTGAAGGTAGATGTGCTTAGATCTCAAGGGTCAGGGCCCCTGGCCCTCCTCAGAGGCTGTTCTGAATCACTTGAGAAGCAGGAGCCCTGCTCCATGGAGAGCAACATTTTCCCCAGTCTGATCAGG
TTCAGCCTGGTGTGTGGCACCCAGCTTAGGCTTGCAAGCTTCCACCTCCTCTCCAGTACAAGAGACTTGCCTGGATTAACTCTAAGCCGTTGTCAGCTCTGGCACCATTAGAGCTTGGCAGCTCCTCA
GGAGAAAGGGAAGCATTGCTCCAAGAAGGCGAGACTCAACTGCACAGCTTTGTCCACAAAACCTAAGCTGACCACCACTGCCCAGTAACAGCCTCTGCGCCCACTCGGGGACCAGGGTGACCCTTTCA
AAGGGTACTTCAGGGCCCAGGCTAAGAGACAGTGGGTCTGGACCAAAGAAACATCCTCGTTCTCATATTGCCCATCCCCCTCAAGACAGTACTACCTGAGCAAGGAGAGCAAAGGGTTCTTTGTGCAT
CATCCAGTGAGGCACAGCTGGACCACGCTGGAGGTCTAACTGAAGATGGGAGAGGGCAGGGAATGTTGCTGTGAGTCACAAACCCCAGCCTATCCTGCACAGTAAACAGGAAGGCCTGTCCAAGTTGT
TGAGCCCTTGTCACTGTGTCATGTGAGCGGGGCTGTGCTCTCATGGGGCCAGGTTGGATCATGACATCCCAGTCCCTTTCACCCAAGTCATGCTGTGAAATCAGAACAAAAATATTTGATGTGTGCAC
TCTTCATAGCTACTCATGATGATACAAGGGGTGAGACATATGACCAGGTCCTACCATAAAACACAGTGTCATACTATGCTTGCCTAGTAAGAAATGTATGCCATGCACCTTATGCACATAAAAGAACA
TGAAGCATAAACGGTGCAGAGTGTCCAGTACTCACGGAAGTCAGAGTTCTAGGAAACTGAACCTTAAGGATGAGAAGAGTCTATCTTTTTTTAACATAATACTTATTTTAAAACACACACCTATGTAA
TGACCTGGAATAGACTATTTAAAGTAAAATGCCCTCTTCCCATTCCACAGGACCATTCCTGTACAACAGCCATCTTCATTAACTATTTTATTTTATTTTTTGGTTTTTCGAGACAGAGTTTCTCTGTG
TAGCCCTGGCTGTCCTGGAACTCAACTGTAGACCAGGCTGGCCTCGAACTCAGAAATCTGCCTGCCTCTGCCTCCCAAGTGCTGGGATTAAAGGCGTGCGCCACCACCACCCAGCCATTAACTATTTT
AAAAAAAAAAAAATATATATATATATATATATATATAAAGAGATTCTTTTAAAATTATGTGTGTGGGTGGATACAGGTGCCCAAAGAAACCAGAAAAGGGCCTTGGATTCCCCAGGAGCTGGAGTTAC
AGGTGGTTGTGAGCTGCCCAGTATGGGTGCTGGGTCCTTGGCAAGAGTCCTTAGACATTACCTGTTGATCCCTGTTGCAGCAGATAAGCGTTTGGTGCTCTTGAGACCCCTCCCCTGCTCTCCATGCT
TTAGGTAGTCAGTGCCCACTGTTTACATTGCTGTTTATATTGATTCGTGAAAGTCTTAGTAAAGTGAGAATTAACTATAACCATTTTTGAACTTTTAGATGTTTTCATGGAATTGGCACTTGGTTTGA
CTTTTCTTTCTTTCATTGCTAAGTTTTCTAATATACCATGGAAAATCCCCCCATCCTATCTCAGTTCATTTCTCGGGCGGGACACTTCCTTTCTAACTTGCTTCTGTGCAGACTCCCCTAGAAGAGAA
TTCCTTCTCCTGTTAGATCCCCTGATTCCTGGGTCCCATGTCTTCTTTCTTCTTCCGCCCTCATTGGGTAAAACGTACCCAGGGTAAGATCACTCTAAAACCCACCTGTGATGGTTATTCCTGGCTGT
CACGTTGACTGTACCTGGCCTGAGCTACAGTCCAGAATTGGAGCACCCTGTGCTCCAGAGCTGGAGGCTGGAAGGCACGGGCTTTGATCTGGACCTTGGAGCACAGTGACCGTGAGAAGCTCAGGCCC
AGGGAAGGTGACTCCTGCCTTTCATCCCAGGAGACAGAGGCTAGCAGATCTCTTAAGTTCAAGCCAGCCTGGAACAGAACAAATTAGGTCCAGGCGTGGTGGTGCACACCTTTAATCTCAGCCATACT
TTCTGCTGGAGGCCTCCATAAATAAGGACAATGGAAGAAGGAAGGCTTGCTGCTTCTTTGCCTGCTTGCACTTACCTGCCAGCACATCTGTTGGAGCCTAGTTCTTCAGGATTCCAGCTTATACAAAA
GACCAGCTGAAACACCCAGCCTCATGGGACTGAGCAACTACTAGACTCTTGGACTTCCCATTCACAGCTGCCCATTGTTGGTTAGTTGGATTGCAGCCTGAGTCATTCCAATAAATTCCCATAATATA
TAGAGACATTCCATAAGTTCTGTGACTCTAGAGAACCCTGACAAGATACCACCCAAGTCTTTATATCACTGCTTGTCTGGACACTGTTGTGACAGTCTGGGTGGTAAAACAAGCTGGGAACAGTTTTC
CTGTAGGCGAAGCTCCCATGTCTTCTGTGCTCTGTCCCAGTTGTTACTCTGAGGTGGGGGTAACGGGCATTCCTCCTCAGGGCTGGCTGTTATTCTCTCTCTGGGGCTCCAGTTAAGCTCTGTCTGAC
AGATGGTCGCTACTGAGAGGACTGCATTGATCCTAATTTTCTTCTTTCATGGTCATCTTTTTGCTTTGTTTTCCAAGAGTGAGAATTTTGTAAGCTTTTCTTACGTTTCAAACTGTTTTTCTTAGTTC
CTGTGTTCAGTTCTTATATTTTCTTCTCTTTAAGTTTTGCATTTGTTTATATGTAAGTAGCCTAACAGCATCTAATTAAACAAAAACTCATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_006531788 ⟹ XP_006531851

Type:

CODING

Position:

Mouse Assembly	Chr	Position (strand)	Source
GRCm39	19	4,936,906 - 4,956,681 (-)	NCBI
GRCm38	19	4,886,878 - 4,906,653 (-)	NCBI

Sequence:

show sequence

ATTGGGTGTTGCGCGATGGCTGAGCTGGTTGCCAAGGCGACGCCTGGGAAAATGGCTGCGGCGT
CTTCATCGGATTCTGACAGCGGGCGAGCTGAGAGGTTAAGTCCCGGATCCTCACCGCTTCCTTTCCCTCAGATGAATAGATGGTGCTTGGTAGCGGGTTCTGGGCTCTTGCTTTCGAGCAGCGGTGGA
AGTTCTGGGAGGGCCCTTTAGAAATCAGAAGAAAGCTGATGGCCAAGAAGTATCTGTATGTGATTGGCTGGTCACTCCGGGCGCCAATTGAGCTCAGATCTAGACTTGCAACGAAGCCAATTCTAAAT
GGCTGGACGCACACTACGACCCCATGGCCAACATCCACACCTTCTCCTCCTGCCTGTCACTGGCAGATTTGCATGGCGATGGGGAGTACAAGCTGGTGGTGGGAGACCTTGGCCCAGGTGGGCAGCAG
CCCCGCCTGAAGGTGCTCAAAGGACCCACAGTGCTGACGGAGAGCCCACTGCCTGCCCTGCCAGCCTCGGCTGCCACCTTCCTCATGGACCAACACGAGCCCAGGACACCTGCCCTGGCACTCGCCTC
AGGGCCTTGTGTCTATGTTTATAAGAACCTTAGACCCTACTTCAAGTTCAGCCTGCCCCAGTTACCTCCAAACCCTTTGGAACAGGACGTTTGGAACCAAGCCAAAGAGGACCAGATTGACCCCTTAA
CCCTGAAGGAGATGCTGGAGGACATCAGGGAAAAGGCAGACGTGCCTTTGTCTGTGCAGTCACTCAGGTTTCTGCAGCTGGAGCTGAGTGAAATGGAGGCGTTTGTGAACCAGCACAAGTCCAAGGTT
ATCAAGCGCCAGACAGTCATCACCACCATGACCACCCTGAAGAAGAACCTGGCAGATGAGGACGCAGCGTCCTGTCTGGTGCTAGGCACTGAGAGCAAGGAACTCCTAGTGCTGGACCCTGAGGCCTT
CACCATTTTGGCCAAGATGAGCCTGCCCAGTGTCCCTGTCTTCCTGGAGGTTTCCGGCCAGTTTGATGTGGAGTTCCGGTTGACTGCTGCCTGCCGAAATGGGAGCATCTATATCCTGAGAAGAGACT
CCAAACACCCCAAGTACTGCATCGAGTTGAGTGCCCAGCCAGTGGGGCTGGTCCGGGTACACAAGGTCCTGGTGGTGGGCAGCACCCAAGAGAGTCTGCATGGCTTCACCCACAAGGGTAAGAAGCTG
TGGACAGTGCAGATGCCTGCAGCCATCCTGACCATGAACCTCCTGGAGCAGCGATCCCGAGGCCTGCAAGCTGTCATGGCTGCTCTGGCCAATGGGGAAGTCCGAATTTACCGAGACAAGGCCCTGCT
CAATGTCATCCATGCCCCGGATGCAGTAACCAGCCTGTGCTTTGGCCGATACGGGCGAGAAGACAACACCCTCATCATGACTACTAGAGGTGGCGGCCTGATCATCAAGATCCTGAAGCGCACAGCAG
TGTTTGTGGAAGGGACGGGTGAGGTGGGCCCACCGCTAGCACAGACCACAAAACTCAGTGTGCCCCGAAAGACCCGGCTGTATGTGGATCAGACCCTGCGGGAGCGGGAAGCTGGCACAGCCATGCAC
CGGACCTTCCAGACCGACCTCTACCTGCTGCGCCTGCGAGCTGCCAGAGCCTATGTCCAGGCCCTGGAGTCCAGCCTGAGCCCCATGTCAACCACAGCTCGCGAGCCCCTCAAGCTGCATGCTGTGGT
TCAAGGCCTGGGCCCCACCTTTAAGCTCACACTTCACCTGCAGAATACCTCAACGGCTCGACCCGTTCTGGGGCTGCATGTCTGCTTCCTGTACAACAAGGCGCTCTATGCCCTGCCTCAGGCTTTCT
TTAAGGTTCCCTTGCTGGTACCAGGACTCAGTTACCCACTGGAAACCTTTGTGGAGAGTCTCAGTAGCAAGGGCATCTCAGACATGATCAAGGTGCTAGTGCTTCGGGAAGGCCAGAGTGCTCCCCTG
CTGAGTGCCCACATCAACATGCCTGTGAGTGAGGGTCTGGCAGCTGCCTGAGCCCTGCGCCAGCATTCAAGTCTCCACAAACAAAATGGAGCCTTTCGGATTCAGTGACTTCCAGTATTGCCAGACTA
CTTCCCCCGGTAGCAATGTAGTGAGACAGCAGCTCCCTGTTCTTCTCTGACACAGTCCCTTGCTCCCCACCTCTGCCAGTGACCTGAGCAACAAGACACGGGGTGCTCGGAATCAGCTCCTCCTCCTC
GGAACCCACTCAAGCCCTGTCCCTCAGTTCCGGCTGCCTGCTACTCCCCAGGTCCCAGGAAGAGATGTGAGGTGGTCAGGGCGAGCATAGCCTCAGTCCGTCCGTCCTTCCTTCCACTCACCTCTTTC
AGATCAAGAGCACAGTTGATCGAGGGCTTAGATGTCGGCTGGTACTGATCCTCTGCTGTCCTTTGAAGTTGCAGGGGTGTGGGTGCTGCCAGCTTGGTTTATAGGCACATGTGCTAAGCTTTCTCAAC
TGAAGAGGGGCTCCACTTTCTACCCTGAAGCCCAGGAGTCATGGGGCTCTGTCCCCAGGTCCTAGACGAGCCACAGAGATTGCCAGAGGAGCTGGTGCCAGAAGTAGACGGGGTCCGTGTGAGGAGCT
AGAGCCACACAGCCAGCAGCTGCTCCCGACATGGGTGCTCATGGCCAGAGGCACTGTTCTGAAATGGAATGCGGAGCTAGATAGCGGAGCTGGGGCTGGTGGCACTGGGAGAGGTCTGGACCTGGGAC
CTGGGAAGTGACCCAAGAGGCAGATGCCGACAAGAGCCTGTCAGAGTGCACTTAGGTCCAGGAGCCCGAGATGGTCCTGAGGGTGGAATGTTCACTGTGCAGTGGCCAGAAGATGCCTGAGCTCACGG
AAAAGGTGCACACCAGGGGTGTGGCATAAAGCCGAAGACTGAAGGTAGATGTGCTTAGATCTCAAGGGTCAGGGCCCCTGGCCCTCCTCAGAGGCTGTTCTGAATCACTTGAGAAGCAGGAGCCCTGC
TCCATGGAGAGCAACATTTTCCCCAGTCTGATCAGGTTCAGCCTGGTGTGTGGCACCCAGCTTAGGCTTGCAAGCTTCCACCTCCTCTCCAGTACAAGAGACTTGCCTGGATTAACTCTAAGCCGTTG
TCAGCTCTGGCACCATTAGAGCTTGGCAGCTCCTCAGGAGAAAGGGAAGCATTGCTCCAAGAAGGCGAGACTCAACTGCACAGCTTTGTCCACAAAACCTAAGCTGACCACCACTGCCCAGTAACAGC
CTCTGCGCCCACTCGGGGACCAGGGTGACCCTTTCAAAGGGTACTTCAGGGCCCAGGCTAAGAGACAGTGGGTCTGGACCAAAGAAACATCCTCGTTCTCATATTGCCCATCCCCCTCAAGACAGTAC
TACCTGAGCAAGGAGAGCAAAGGGTTCTTTGTGCATCATCCAGTGAGGCACAGCTGGACCACGCTGGAGGTCTAACTGAAGATGGGAGAGGGCAGGGAATGTTGCTGTGAGTCACAAACCCCAGCCTA
TCCTGCACAGTAAACAGGAAGGCCTGTCCAAGTTGTTGAGCCCTTGTCACTGTGTCATGTGAGCGGGGCTGTGCTCTCATGGGGCCAGGTTGGATCATGACATCCCAGTCCCTTTCACCCAAGTCATG
CTGTGAAATCAGAACAAAAATATTTGATGTGTGCACTCTTCATAGCTACTCATGATGATACAAGGGGTGAGACATATGACCAGGTCCTACCATAAAACACAGTGTCATACTATGCTTGCCTAGTAAGA
AATGTATGCCATGCACCTTATGCACATAAAAGAACATGAAGCATAAACGGTGCAGAGTGTCCAGTACTCACGGAAGTCAGAGTTCTAGGAAACTGAACCTTAAGGATGAGAAGAGTCTATCTTTTTTT
AACATAATACTTATTTTAAAACACACACCTATGTAATGACCTGGAATAGACTATTTAAAGTAAAATGCCCTCTTCCCATTCCACAGGACCATTCCTGTACAACAGCCATCTTCATTAACTATTTTATT
TTATTTTTTGGTTTTTCGAGACAGAGTTTCTCTGTGTAGCCCTGGCTGTCCTGGAACTCAACTGTAGACCAGGCTGGCCTCGAACTCAGAAATCTGCCTGCCTCTGCCTCCCAAGTGCTGGGATTAAA
GGCGTGCGCCACCACCACCCAGCCATTAACTATTTTAAAAAAAAAAAAATATATATATATATATATATATATAAAGAGATTCTTTTAAAATTATGTGTGTGGGTGGATACAGGTGCCCAAAGAAACCA
GAAAAGGGCCTTGGATTCCCCAGGAGCTGGAGTTACAGGTGGTTGTGAGCTGCCCAGTATGGGTGCTGGGTCCTTGGCAAGAGTCCTTAGACATTACCTGTTGATCCCTGTTGCAGCAGATAAGCGTT
TGGTGCTCTTGAGACCCCTCCCCTGCTCTCCATGCTTTAGGTAGTCAGTGCCCACTGTTTACATTGCTGTTTATATTGATTCGTGAAAGTCTTAGTAAAGTGAGAATTAACTATAACCATTTTTGAAC
TTTTAGATGTTTTCATGGAATTGGCACTTGGTTTGACTTTTCTTTCTTTCATTGCTAAGTTTTCTAATATACCATGGAAAATCCCCCCATCCTATCTCAGTTCATTTCTCGGGCGGGACACTTCCTTT
CTAACTTGCTTCTGTGCAGACTCCCCTAGAAGAGAATTCCTTCTCCTGTTAGATCCCCTGATTCCTGGGTCCCATGTCTTCTTTCTTCTTCCGCCCTCATTGGGTAAAACGTACCCAGGGTAAGATCA
CTCTAAAACCCACCTGTGATGGTTATTCCTGGCTGTCACGTTGACTGTACCTGGCCTGAGCTACAGTCCAGAATTGGAGCACCCTGTGCTCCAGAGCTGGAGGCTGGAAGGCACGGGCTTTGATCTGG
ACCTTGGAGCACAGTGACCGTGAGAAGCTCAGGCCCAGGGAAGGTGACTCCTGCCTTTCATCCCAGGAGACAGAGGCTAGCAGATCTCTTAAGTTCAAGCCAGCCTGGAACAGAACAAATTAGGTCCA
GGCGTGGTGGTGCACACCTTTAATCTCAGCCATACTTTCTGCTGGAGGCCTCCATAAATAAGGACAATGGAAGAAGGAAGGCTTGCTGCTTCTTTGCCTGCTTGCACTTACCTGCCAGCACATCTGTT
GGAGCCTAGTTCTTCAGGATTCCAGCTTATACAAAAGACCAGCTGAAACACCCAGCCTCATGGGACTGAGCAACTACTAGACTCTTGGACTTCCCATTCACAGCTGCCCATTGTTGGTTAGTTGGATT
GCAGCCTGAGTCATTCCAATAAATTCCCATAATATATAGAGACATTCCATAAGTTCTGTGACTCTAGAGAACCCTGACAAGATACCACCCAAGTCTTTATATCACTGCTTGTCTGGACACTGTTGTGA
CAGTCTGGGTGGTAAAACAAGCTGGGAACAGTTTTCCTGTAGGCGAAGCTCCCATGTCTTCTGTGCTCTGTCCCAGTTGTTACTCTGAGGTGGGGGTAACGGGCATTCCTCCTCAGGGCTGGCTGTTA
TTCTCTCTCTGGGGCTCCAGTTAAGCTCTGTCTGACAGATGGTCGCTACTGAGAGGACTGCATTGATCCTAATTTTCTTCTTTCATGGTCATCTTTTTGCTTTGTTTTCCAAGAGTGAGAATTTTGTA
AGCTTTTCTTACGTTTCAAACTGTTTTTCTTAGTTCCTGTGTTCAGTTCTTATATTTTCTTCTCTTTAAGTTTTGCATTTGTTTATATGTAAGTAGCCTAACAGCATCTAATTAAACAAAAACTCATA
ATGAA

hide sequence


Protein RefSeqs	NP_001028300	(Get FASTA)	NCBI Sequence Viewer
	XP_006531851	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	BAE20519	(Get FASTA)	NCBI Sequence Viewer
	BAE36338	(Get FASTA)	NCBI Sequence Viewer
	BAE37502	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSMUSP00000055321
	ENSMUSP00000055321.7
GenBank Protein	Q3V3N7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001028300 ⟸ NM_001033128

- UniProtKB:

Q3V3N7 (UniProtKB/TrEMBL), A0A494B8X5 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MAAASSSDSDSGRAESNEANSKWLDAHYDPMANIHTFSSCLSLADLHGDGEYKLVVGDLGPGGQQPRLKVLKGPTVLTESPLPALPASAATFLMDQHEPRTPALALASGPCVYVYKNLRPYFKFSLPQ
LPPNPLEQDVWNQAKEDQIDPLTLKEMLEDIREKADVPLSVQSLRFLQLELSEMEAFVNQHKSKVIKRQTVITTMTTLKKNLADEDAASCLVLGTESKELLVLDPEAFTILAKMSLPSVPVFLEVSGQ
FDVEFRLTAACRNGSIYILRRDSKHPKYCIELSAQPVGLVRVHKVLVVGSTQESLHGFTHKGKKLWTVQMPAAILTMNLLEQRSRGLQAVMAALANGEVRIYRDKALLNVIHAPDAVTSLCFGRYGRE
DNTLIMTTRGGGLIIKILKRTAVFVEGTGEVGPPLAQTTKLSVPRKTRLYVDQTLREREAGTAMHRTFQTDLYLLRLRAARAYVQALESSLSPMSTTAREPLKLHAVVQGLGPTFKLTLHLQNTSTAR
PVLGLHVCFLYNKALYALPQAFFKVPLLVPGLSYPLETFVESLSSKGISDMIKVLVLREGQSAPLLSAHINMPVSEGLAAA

hide sequence

RefSeq Acc Id:	XP_006531851 ⟸ XM_006531788
- Peptide Label:	isoform X1
- UniProtKB:	A0A494B8X5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MANIHTFSSCLSLADLHGDGEYKLVVGDLGPGGQQPRLKVLKGPTVLTESPLPALPASAATFLMDQHEPRTPALALASGPCVYVYKNLRPYFKFSLPQLPPNPLEQDVWNQAKEDQIDPLTLKEMLED IREKADVPLSVQSLRFLQLELSEMEAFVNQHKSKVIKRQTVITTMTTLKKNLADEDAASCLVLGTESKELLVLDPEAFTILAKMSLPSVPVFLEVSGQFDVEFRLTAACRNGSIYILRRDSKHPKYCI ELSAQPVGLVRVHKVLVVGSTQESLHGFTHKGKKLWTVQMPAAILTMNLLEQRSRGLQAVMAALANGEVRIYRDKALLNVIHAPDAVTSLCFGRYGREDNTLIMTTRGGGLIIKILKRTAVFVEGTGE VGPPLAQTTKLSVPRKTRLYVDQTLREREAGTAMHRTFQTDLYLLRLRAARAYVQALESSLSPMSTTAREPLKLHAVVQGLGPTFKLTLHLQNTSTARPVLGLHVCFLYNKALYALPQAFFKVPLLVP GLSYPLETFVESLSSKGISDMIKVLVLREGQSAPLLSAHINMPVSEGLAAA hide sequence

Ensembl Acc Id:

ENSMUSP00000157393 ⟸ ENSMUST00000237085

Ensembl Acc Id:

ENSMUSP00000157728 ⟸ ENSMUST00000237362

Ensembl Acc Id:

ENSMUSP00000055321 ⟸ ENSMUST00000053506

Protein Domains

Bardet-Biedl syndrome 1 N-terminal

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q3V3N7-F1-model_v2	AlphaFold	Q3V3N7	1-593	view protein structure

RGD ID:

6829857

Promoter ID:

MM_KWN:26037

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

3T3L1_Day0, 3T3L1_Day2, BoneMarrow_0Hour, BoneMarrow_4Hour

Transcripts:

NM_001033128, UC008GBL.1, UC008GBM.1

Position:

Mouse Assembly	Chr	Position (strand)	Source
MGSCv36	19	4,906,349 - 4,906,849 (-)	MPROMDB

RGD ID:

13678464

Promoter ID:

EPDNEW_M23382

Type:

multiple initiation site

Name:

Bbs1_1

Description:

Mus musculus Bardet-Biedl syndrome 1 , mRNA.

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Mouse Assembly	Chr	Position (strand)	Source
GRCm38	19	4,906,627 - 4,906,687	EPDNEW

Database	Acc Id	Source(s)
Ensembl Genes	ENSMUSG00000006464	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENSMUST00000053506	ENTREZGENE
	ENSMUST00000053506.8	UniProtKB/Swiss-Prot
InterPro	BBS1	UniProtKB/Swiss-Prot
	BBS1_N	UniProtKB/Swiss-Prot
	Quinoprotein_ADH-like_supfam	UniProtKB/Swiss-Prot
KEGG Report	mmu:52028	UniProtKB/Swiss-Prot
MGD	MGI:1277215	ENTREZGENE
NCBI Gene	52028	ENTREZGENE
PANTHER	BARDET-BIEDL SYNDROME 1 PROTEIN	UniProtKB/Swiss-Prot
	PTHR20870	UniProtKB/Swiss-Prot
Pfam	BBS1	UniProtKB/Swiss-Prot
PhenoGen	Bbs1	PhenoGen
Superfamily-SCOP	SSF50998	UniProtKB/Swiss-Prot
UniProt	A0A494B8X5	ENTREZGENE, UniProtKB/TrEMBL
	A0A494B9R9_MOUSE	UniProtKB/TrEMBL
	A0A494B9Z5_MOUSE	UniProtKB/TrEMBL
	BBS1_MOUSE	UniProtKB/Swiss-Prot
	Q3TQ82_MOUSE	UniProtKB/TrEMBL
	Q3TTI7_MOUSE	UniProtKB/TrEMBL
	Q3V3N7	ENTREZGENE

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2023-07-04	Bbs1	Bardet-Biedl syndrome 1	Bbs1	Bardet-Biedl syndrome 1 (human)	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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