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Gene: Nphp1 (nephrocystin 1) Rattus norvegicus

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Symbol:

Nphp1

Name:

nephrocystin 1

RGD ID:

1308136

Description:

Predicted to be involved in several processes, including photoreceptor cell outer segment organization; positive regulation of bicellular tight junction assembly; and protein localization involved in establishment of planar polarity. Predicted to be located in several cellular components, including ciliary base; motile cilium; and photoreceptor distal connecting cilium. Predicted to be active in cilium and cytoplasm. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Joubert syndrome 4; Senior-Loken syndrome; nephronophthisis; and nephronophthisis 1. Orthologous to human NPHP1 (nephrocystin 1); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 4,4'-sulfonyldiphenol; acetamide.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

hypothetical protein LOC680233; LOC296136; LOC680233; nephrocystin-1; nephronophthisis 1 (juvenile); nephronophthisis 1 (juvenile) homolog; nephronophthisis 1 (juvenile) homolog (human)

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):	NPHP1 (nephrocystin 1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OrthoDB, Panther
Mus musculus (house mouse):	Nphp1 (nephronophthisis 1 (juvenile) homolog (human))	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chinchilla lanigera (long-tailed chinchilla):	Nphp1 (nephrocystin 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Pan paniscus (bonobo/pygmy chimpanzee):	NPHP1 (nephrocystin 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Canis lupus familiaris (dog):	NPHP1 (nephrocystin 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Sus scrofa (pig):	NPHP1 (nephrocystin 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chlorocebus sabaeus (green monkey):	NPHP1 (nephrocystin 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Heterocephalus glaber (naked mole-rat):	Nphp1 (nephrocystin 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Alliance orthologs ³
Homo sapiens (human):	NPHP1 (nephrocystin 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Nphp1 (nephronophthisis 1 (juvenile) homolog (human))	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	nphp1 (nephronophthisis 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	nphp-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PhylomeDB)
Xenopus tropicalis (tropical clawed frog):	nphp1	Alliance	DIOPT (Ensembl Compara\|OrthoFinder)

Latest Assembly:

GRCr8 - GRCr8 Assembly

Position:

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	135,413,927 - 135,469,505 (-)	NCBI		GRCr8
mRatBN7.2	3	114,960,650 - 115,016,234 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	114,960,650 - 115,016,234 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	118,850,405 - 118,906,075 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	127,445,951 - 127,501,619 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	125,106,321 - 125,161,956 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	120,316,048 - 120,370,089 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	120,316,047 - 120,373,500 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	126,960,471 - 127,017,986 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	115,263,821 - 115,322,901 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	115,169,392 - 115,225,028 (-)	NCBI
Celera	3	113,795,120 - 113,850,690 (-)	NCBI		Celera
Cytogenetic Map	3	q36	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)
Nphp1	Rat	Bardet-Biedl syndrome		ISO	RGD:1317734	11352646		RGD
Nphp1	Rat	Joubert syndrome 4		ISO	RGD:1317734	7246903	associated with Kidney Diseases, Cystic;DNA:mutation	RGD
Nphp1	Rat	nephronophthisis		ISO	RGD:1317734	11065524	DNA:deletions, nonsense mutations:cds:multiple	RGD
Nphp1	Rat	nephronophthisis 1		ISO	RGD:1317734	7246904	DNA:missense mutations:cds:p.R586X (human)	RGD
Nphp1	Rat	nephronophthisis 1		ISO	RGD:1317734	11537341	DNA:mutations:exon, intron:multiple	RGD
Nphp1	Rat	nephronophthisis 1		ISO	RGD:1317734	7246902	DNA:deletion: :	RGD
Nphp1	Rat	nephronophthisis 1		ISO	RGD:1317734	7246900	DNA:deletion: :	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Nphp1	Rat	autism spectrum disorder		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Autism spectrum disorder	ClinVar	PMID:24807792\|PMID:25255310
Nphp1	Rat	Bardet-Biedl syndrome 1		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Bardet-Biedl syndrome 1	ClinVar	PMID:25741868\|PMID:28492532
Nphp1	Rat	CAKUT		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract	ClinVar	PMID:30143558
Nphp1	Rat	cone dystrophy		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Cone dystrophy	ClinVar	PMID:28041643
Nphp1	Rat	focal segmental glomerulosclerosis		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	ClinVar	PMID:25741868\|PMID:28492532
Nphp1	Rat	fundus dystrophy		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Retinal dystrophy	ClinVar	PMID:10620543\|PMID:10839884\|PMID:11168925\|PMID:15138899\|PMID:16762963\|PMID:17409309\|PMID:17576681\|PMID:18076122\|PMID:20434703\|PMID:21258817\|PMID:21658830\|PMID:23559409\|PMID:24154662\|PMID:24746959\|PMID:25126106\|PMID:25401970\|PMID:25525159\|PMID:25741868\|PMID:26037636\|PMID:26092869\|PMID:26359340\|PMID:26477546\|PMID:26673778\|PMID:27491411\|PMID:27788217\|PMID:28002029\|PMID:28041643\|PMID:2825423\|PMID:28347285\|PMID:28492532\|PMID:28509138\|PMID:28559085\|PMID:29555955\|PMID:29654215\|PMID:29974258\|PMID:30773290\|PMID:30847201\|PMID:31345219\|PMID:31402777\|PMID:32306954\|PMID:33083013\|PMID:33306870\|PMID:33512896\|PMID:33597717\|PMID:34013113\|PMID:34059960\|PMID:34153329\|PMID:34246230\|PMID:34295353\|PMID:35140360\|PMID:35368817\|PMID:36090483\|PMID:37203120\|PMID:8852662\|PMID:9536098
Nphp1	Rat	genetic disease		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:10839884\|PMID:11168925\|PMID:16762963\|PMID:17409309\|PMID:17576681\|PMID:18076122\|PMID:23559409\|PMID:23661369\|PMID:24033266\|PMID:24154662\|PMID:25268133\|PMID:25525159\|PMID:25741868\|PMID:26499951\|PMID:26673778\|PMID:26920127\|PMID:27491411\|PMID:28492532\|PMID:28559085\|PMID:28624958\|PMID:29974258\|PMID:30773290\|PMID:31345219\|PMID:31822006\|PMID:33193692\|PMID:36090483\|PMID:9536098
Nphp1	Rat	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Snijders Blok type	ClinVar	PMID:24746959\|PMID:25741868\|PMID:28492532
Nphp1	Rat	Joubert syndrome		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Joubert syndrome and related disorders	ClinVar	PMID:16199547\|PMID:23559409\|PMID:25741868\|PMID:28002029\|PMID:28492532\|PMID:33083013\|PMID:34031707\|PMID:34090716
Nphp1	Rat	Joubert syndrome		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Joubert syndrome and related disorders	ClinVar	PMID:23559409\|PMID:28002029\|PMID:28492532\|PMID:34090716
Nphp1	Rat	Joubert syndrome		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Joubert syndrome \| ClinVar Annotator: match by term: Joubert syndrome more ...	ClinVar	PMID:16199547\|PMID:23559409\|PMID:25741868\|PMID:28002029\|PMID:28492532\|PMID:34090716
Nphp1	Rat	Joubert syndrome 1		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Joubert syndrome 1	ClinVar	PMID:24746959\|PMID:25741868\|PMID:28492532
Nphp1	Rat	Joubert syndrome 4		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: JOUBERT SYNDROME 4 \| ClinVar Annotator: match by term: Joubert more ...	ClinVar	PMID:10620543\|PMID:10712196\|PMID:10839884\|PMID:11168925\|PMID:15138899\|PMID:16155189\|PMID:16199547\|PMID:16762963\|PMID:17409309\|PMID:17576681\|PMID:17855640\|PMID:18076122\|PMID:23559409\|PMID:23661369\|PMID:23757202\|PMID:24033266\|PMID:24154662\|PMID:24746959\|PMID:25268133\|PMID:25525159\|PMID:25741868\|PMID:26477546\|PMID:26499951\|PMID:26673778\|PMID:26920127\|PMID:27004562\|PMID:27491411\|PMID:27806791\|PMID:28002029\|PMID:28492532\|PMID:28559085\|PMID:28624958\|PMID:29974258\|PMID:30108342\|PMID:30773290\|PMID:31345219\|PMID:31523374\|PMID:31822006\|PMID:32173348\|PMID:32483926\|PMID:33193692\|PMID:34090716\|PMID:36090483\|PMID:8852662\|PMID:9326933\|PMID:9536098\|PMID:9856524
Nphp1	Rat	kidney disease		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Kidney disease \| ClinVar Annotator: match by term: renal disease	ClinVar	PMID:25741868\|PMID:28492532
Nphp1	Rat	Leber congenital amaurosis		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Leber's amaurosis	ClinVar	PMID:10839884\|PMID:15138899\|PMID:25741868\|PMID:28492532
Nphp1	Rat	nephronophthisis		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Nephronophthisis	ClinVar	PMID:10620543\|PMID:10712196\|PMID:10839884\|PMID:11168925\|PMID:15138899\|PMID:16155189\|PMID:16199547\|PMID:16762963\|PMID:17409309\|PMID:17576681\|PMID:17855640\|PMID:18076122\|PMID:19118152\|PMID:19755384\|PMID:19763152\|PMID:20307669\|PMID:22406018\|PMID:23559409\|PMID:23661369\|PMID:23757202\|PMID:24033266\|PMID:24154662\|PMID:24746959\|PMID:25268133\|PMID:25525159\|PMID:25640679\|PMID:25741868\|PMID:26477546\|PMID:26499951\|PMID:26673778\|PMID:26920127\|PMID:27004562\|PMID:27491411\|PMID:27806791\|PMID:28002029\|PMID:28492532\|PMID:28559085\|PMID:28624958\|PMID:29974258\|PMID:30108342\|PMID:30773290\|PMID:31345219\|PMID:31523374\|PMID:31822006\|PMID:32173348\|PMID:32483926\|PMID:33193692\|PMID:36090483\|PMID:8852662\|PMID:9326933\|PMID:9536098\|PMID:9856524
Nphp1	Rat	nephronophthisis		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Nephronophthisis	ClinVar	PMID:10620543\|PMID:10712196\|PMID:10839884\|PMID:11168925\|PMID:15138899\|PMID:16155189\|PMID:16199547\|PMID:16762963\|PMID:17409309\|PMID:17576681\|PMID:17855640\|PMID:18076122\|PMID:19118152\|PMID:19755384\|PMID:19763152\|PMID:20307669\|PMID:22406018\|PMID:23559409\|PMID:23661369\|PMID:23757202\|PMID:24033266\|PMID:24154662\|PMID:24746959\|PMID:25268133\|PMID:25525159\|PMID:25640679\|PMID:25741868\|PMID:26477546\|PMID:26499951\|PMID:26673778\|PMID:26920127\|PMID:27004562\|PMID:27491411\|PMID:27806791\|PMID:28002029\|PMID:28492532\|PMID:28559085\|PMID:28624958\|PMID:29974258\|PMID:30108342\|PMID:30773290\|PMID:31345219\|PMID:31523374\|PMID:31822006\|PMID:32173348\|PMID:32483926\|PMID:33193692\|PMID:35858853\|PMID:36090483\|PMID:8852662\|PMID:9326933\|PMID:9536098\|PMID:9856524
Nphp1	Rat	nephronophthisis		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Nephronophthisis \| ClinVar Annotator: match by term: Nephronophthisis 8	ClinVar	PMID:10620543\|PMID:10839884\|PMID:11168925\|PMID:15138899\|PMID:16199547\|PMID:16762963\|PMID:17576681\|PMID:17855640\|PMID:18076122\|PMID:19118152\|PMID:23559409\|PMID:23661369\|PMID:23757202\|PMID:24033266\|PMID:24154662\|PMID:24746959\|PMID:25268133\|PMID:25326637\|PMID:25525159\|PMID:25741868\|PMID:26477546\|PMID:26499951\|PMID:26673778\|PMID:26920127\|PMID:27491411\|PMID:27806791\|PMID:28492532\|PMID:28624958\|PMID:29974258\|PMID:30108342\|PMID:30773290\|PMID:33193692\|PMID:8852662\|PMID:9326933\|PMID:9536098
Nphp1	Rat	nephronophthisis		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Nephronophthisis \| ClinVar Annotator: match by term: Nephronophthisis 8	ClinVar	PMID:10620543\|PMID:10839884\|PMID:11168925\|PMID:15138899\|PMID:16199547\|PMID:16762963\|PMID:17576681\|PMID:17855640\|PMID:18076122\|PMID:19118152\|PMID:23559409\|PMID:23757202\|PMID:24033266\|PMID:24154662\|PMID:24746959\|PMID:25525159\|PMID:25741868\|PMID:26477546\|PMID:26673778\|PMID:27491411\|PMID:27806791\|PMID:28492532\|PMID:28624958\|PMID:29974258\|PMID:30773290\|PMID:8852662\|PMID:9326933\|PMID:9536098
Nphp1	Rat	nephronophthisis		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Nephronophthisis	ClinVar	PMID:10620543\|PMID:10839884\|PMID:11168925\|PMID:15138899\|PMID:16199547\|PMID:16762963\|PMID:17576681\|PMID:17855640\|PMID:18076122\|PMID:19118152\|PMID:23559409\|PMID:23757202\|PMID:24033266\|PMID:24154662\|PMID:24746959\|PMID:25326637\|PMID:25525159\|PMID:25741868\|PMID:26477546\|PMID:26673778\|PMID:27491411\|PMID:27806791\|PMID:28492532\|PMID:28624958\|PMID:29974258\|PMID:30773290\|PMID:8852662\|PMID:9326933\|PMID:9536098
Nphp1	Rat	nephronophthisis		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Nephronophthisis	ClinVar	PMID:10620543\|PMID:10712196\|PMID:10839884\|PMID:11168925\|PMID:15138899\|PMID:16155189\|PMID:16199547\|PMID:16762963\|PMID:17409309\|PMID:17576681\|PMID:17855640\|PMID:18076122\|PMID:19118152\|PMID:19755384\|PMID:19763152\|PMID:20307669\|PMID:22406018\|PMID:23559409\|PMID:23661369\|PMID:23757202\|PMID:24033266\|PMID:24154662\|PMID:24746959\|PMID:25268133\|PMID:25525159\|PMID:25741868\|PMID:26477546\|PMID:26499951\|PMID:26673778\|PMID:26920127\|PMID:27004562\|PMID:27491411\|PMID:27806791\|PMID:28002029\|PMID:28492532\|PMID:28559085\|PMID:28624958\|PMID:29974258\|PMID:30108342\|PMID:30773290\|PMID:31822006\|PMID:32173348\|PMID:32483926\|PMID:33193692\|PMID:8852662\|PMID:9326933\|PMID:9536098\|PMID:9856524
Nphp1	Rat	nephronophthisis		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Nephronophthisis \| ClinVar Annotator: match by term: Nephronophthisis 8	ClinVar	PMID:10620543\|PMID:10839884\|PMID:11168925\|PMID:15138899\|PMID:16199547\|PMID:16762963\|PMID:17576681\|PMID:17855640\|PMID:18076122\|PMID:19118152\|PMID:23559409\|PMID:23661369\|PMID:23757202\|PMID:24033266\|PMID:24154662\|PMID:24746959\|PMID:25268133\|PMID:25525159\|PMID:25741868\|PMID:26477546\|PMID:26499951\|PMID:26673778\|PMID:26920127\|PMID:27491411\|PMID:27806791\|PMID:28492532\|PMID:28624958\|PMID:29974258\|PMID:30108342\|PMID:30773290\|PMID:33193692\|PMID:8852662\|PMID:9326933\|PMID:9536098
Nphp1	Rat	nephronophthisis 1		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Nephronophthisis 1 \| ClinVar Annotator: match by term: Nephronophthisis familial more ...	ClinVar	PMID:10620543\|PMID:10712196\|PMID:10839884\|PMID:10980528\|PMID:11168925\|PMID:15138899\|PMID:16155189\|PMID:16199547\|PMID:16762963\|PMID:17409309\|PMID:17576681\|PMID:17855640\|PMID:18076122\|PMID:23559409\|PMID:23661369\|PMID:24033266\|PMID:24154662\|PMID:24746959\|PMID:25268133\|PMID:25525159\|PMID:25741868\|PMID:26499951\|PMID:26673778\|PMID:26920127\|PMID:27004562\|PMID:27491411\|PMID:27806791\|PMID:28002029\|PMID:28492532\|PMID:28559085\|PMID:28624958\|PMID:29974258\|PMID:30108342\|PMID:30773290\|PMID:31345219\|PMID:31523374\|PMID:31822006\|PMID:32483926\|PMID:33193692\|PMID:33532864\|PMID:36090483\|PMID:8852662\|PMID:9326933\|PMID:9536098\|PMID:9856524
Nphp1	Rat	Senior-Loken syndrome		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSIS \| ClinVar Annotator: match by more ...	ClinVar	PMID:10620543\|PMID:10839884\|PMID:11168925\|PMID:15138899\|PMID:16199547\|PMID:16762963\|PMID:17409309\|PMID:17576681\|PMID:17855640\|PMID:18076122\|PMID:23559409\|PMID:24154662\|PMID:24746959\|PMID:25525159\|PMID:25741868\|PMID:26673778\|PMID:27004562\|PMID:27806791\|PMID:28492532\|PMID:28559085\|PMID:29974258\|PMID:30108342\|PMID:30773290\|PMID:31345219\|PMID:31523374\|PMID:32483926\|PMID:36090483\|PMID:9536098
Nphp1	Rat	Senior-Loken syndrome		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis \| ClinVar Annotator: match by more ...	ClinVar	PMID:10620543\|PMID:10712196\|PMID:10839884\|PMID:15138899\|PMID:16155189\|PMID:16199547\|PMID:17576681\|PMID:17855640\|PMID:23559409\|PMID:23661369\|PMID:24746959\|PMID:25268133\|PMID:25525159\|PMID:25741868\|PMID:26499951\|PMID:26920127\|PMID:27491411\|PMID:27806791\|PMID:28492532\|PMID:28624958\|PMID:30108342\|PMID:33193692\|PMID:8852662\|PMID:9326933\|PMID:9536098\|PMID:9856524
Nphp1	Rat	Senior-Loken Syndrome 1		ISO	RGD:1317734	8554872	ClinVar Annotator: match by term: Senior-Loken syndrome 1	ClinVar	PMID:10620543\|PMID:10712196\|PMID:10839884\|PMID:11168925\|PMID:15138899\|PMID:16155189\|PMID:16199547\|PMID:16762963\|PMID:17409309\|PMID:17576681\|PMID:17855640\|PMID:18076122\|PMID:23559409\|PMID:23661369\|PMID:24154662\|PMID:24746959\|PMID:25268133\|PMID:25525159\|PMID:25741868\|PMID:26499951\|PMID:26673778\|PMID:26920127\|PMID:27004562\|PMID:27491411\|PMID:27806791\|PMID:28492532\|PMID:28559085\|PMID:28624958\|PMID:29974258\|PMID:30108342\|PMID:30773290\|PMID:31345219\|PMID:31523374\|PMID:32483926\|PMID:33193692\|PMID:36090483\|PMID:8852662\|PMID:9326933\|PMID:9536098\|PMID:9856524

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Nphp1	Rat	Joubert syndrome 4		ISO	RGD:1317734	11554173	CTD Direct Evidence: marker/mechanism	CTD
Nphp1	Rat	nephronophthisis 1		ISO	RGD:1317734	11554173	CTD Direct Evidence: marker/mechanism	CTD
Nphp1	Rat	Senior-Loken syndrome		ISO	RGD:1317734	11554173	CTD Direct Evidence: marker/mechanism	CTD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Nphp1	Rat	nephronophthisis 1		ISS	RGD:1317735	13592920	OMIM:256100	MouseDO

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Nphp1	Rat	Joubert syndrome 4		ISO	RGD:1317734	7240710		OMIM
Nphp1	Rat	nephronophthisis 1		ISO	RGD:1317734	7240710		OMIM
Nphp1	Rat	Senior-Loken Syndrome 1		ISO	RGD:1317734	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)
Nphp1	Rat	17beta-estradiol	multiple interactions	ISO	RGD:1317734	6480464	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in increased expression of NPHP1 mRNA	CTD	PMID:20823114
Nphp1	Rat	17beta-estradiol	increases expression	ISO	RGD:1317735	6480464	Estradiol results in increased expression of NPHP1 mRNA	CTD	PMID:39298647
Nphp1	Rat	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1317735	6480464	Tetrachlorodibenzodioxin affects the expression of NPHP1 mRNA	CTD	PMID:21570461
Nphp1	Rat	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	EXP		6480464	Tetrachlorodibenzodioxin results in decreased expression of NPHP1 mRNA	CTD	PMID:32109520
Nphp1	Rat	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:1317735	6480464	Tetrachlorodibenzodioxin results in increased expression of NPHP1 mRNA	CTD	PMID:23994337
Nphp1	Rat	2-palmitoylglycerol	increases expression	ISO	RGD:1317734	6480464	2-palmitoylglycerol results in increased expression of NPHP1 mRNA	CTD	PMID:37199045
Nphp1	Rat	3,3',4,4',5-pentachlorobiphenyl	increases expression	ISO	RGD:1317735	6480464	3,4,5,3',4'-pentachlorobiphenyl results in increased expression of NPHP1 mRNA	CTD	PMID:23994337
Nphp1	Rat	4,4'-sulfonyldiphenol	increases expression	ISO	RGD:1317735	6480464	bisphenol S results in increased expression of NPHP1 mRNA	CTD	PMID:30951980
Nphp1	Rat	4,4'-sulfonyldiphenol	multiple interactions	EXP		6480464	[bisphenol A co-treated with bisphenol F co-treated with bisphenol S] results in decreased expression of more ...	CTD	PMID:36041667
Nphp1	Rat	5-azacytidine	increases expression	ISO	RGD:1317734	6480464	Azacitidine results in increased expression of NPHP1 mRNA	CTD	PMID:20823114
Nphp1	Rat	acetamide	decreases expression	EXP		6480464	acetamide results in decreased expression of NPHP1 mRNA	CTD	PMID:31881176
Nphp1	Rat	acrylamide	increases expression	EXP		6480464	Acrylamide results in increased expression of NPHP1 mRNA	CTD	PMID:28959563
Nphp1	Rat	aflatoxin B1	decreases methylation	ISO	RGD:1317734	6480464	Aflatoxin B1 results in decreased methylation of NPHP1 gene	CTD	PMID:27153756
Nphp1	Rat	antirheumatic drug	increases expression	ISO	RGD:1317734	6480464	Antirheumatic Agents results in increased expression of NPHP1 mRNA	CTD	PMID:24449571
Nphp1	Rat	aristolochic acid A	decreases expression	ISO	RGD:1317734	6480464	aristolochic acid I results in decreased expression of NPHP1 mRNA	CTD	PMID:33212167
Nphp1	Rat	Aroclor 1254	decreases expression	ISO	RGD:1317735	6480464	Chlorodiphenyl (54% Chlorine) results in decreased expression of NPHP1 mRNA	CTD	PMID:23650126
Nphp1	Rat	benzo[a]pyrene	multiple interactions	ISO	RGD:1317735	6480464	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of more ...	CTD	PMID:27858113
Nphp1	Rat	benzo[a]pyrene	increases methylation	ISO	RGD:1317734	6480464	Benzo(a)pyrene results in increased methylation of NPHP1 promoter	CTD	PMID:27901495
Nphp1	Rat	benzo[a]pyrene	increases methylation	ISO	RGD:1317735	6480464	Benzo(a)pyrene results in increased methylation of NPHP1 intron	CTD	PMID:27901495
Nphp1	Rat	benzo[b]fluoranthene	multiple interactions	ISO	RGD:1317735	6480464	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of more ...	CTD	PMID:27858113
Nphp1	Rat	beta-naphthoflavone	increases expression	ISO	RGD:1317735	6480464	beta-Naphthoflavone results in increased expression of NPHP1 mRNA	CTD	PMID:23994337
Nphp1	Rat	bisphenol A	affects expression	EXP		6480464	bisphenol A affects the expression of NPHP1 mRNA	CTD	PMID:25181051
Nphp1	Rat	bisphenol A	multiple interactions	EXP		6480464	[bisphenol A co-treated with bisphenol F co-treated with bisphenol S] results in decreased expression of more ...	CTD	PMID:36041667
Nphp1	Rat	bisphenol A	multiple interactions	ISO	RGD:1317734	6480464	[bisphenol A co-treated with Fulvestrant] results in decreased methylation of NPHP1 gene	CTD	PMID:31601247
Nphp1	Rat	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of NPHP1 mRNA	CTD	PMID:32145629
Nphp1	Rat	bisphenol A	increases expression	ISO	RGD:1317735	6480464	bisphenol A results in increased expression of NPHP1 mRNA	CTD	PMID:30951980
Nphp1	Rat	bisphenol A	decreases expression	EXP		6480464	bisphenol A results in decreased expression of NPHP1 mRNA	CTD	PMID:30816183\|PMID:32528016
Nphp1	Rat	bisphenol F	increases expression	ISO	RGD:1317735	6480464	bisphenol F results in increased expression of NPHP1 mRNA	CTD	PMID:30951980
Nphp1	Rat	bisphenol F	multiple interactions	EXP		6480464	[bisphenol A co-treated with bisphenol F co-treated with bisphenol S] results in decreased expression of more ...	CTD	PMID:36041667
Nphp1	Rat	bucladesine	multiple interactions	ISO	RGD:1317734	6480464	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in increased expression of NPHP1 mRNA	CTD	PMID:20823114
Nphp1	Rat	carbon nanotube	decreases expression	ISO	RGD:1317735	6480464	Nanotubes, Carbon analog results in decreased expression of NPHP1 mRNA; Nanotubes, Carbon results in decreased more ...	CTD	PMID:25554681
Nphp1	Rat	CGP 52608	multiple interactions	ISO	RGD:1317734	6480464	CGP 52608 promotes the reaction [RORA protein binds to NPHP1 gene]	CTD	PMID:28238834
Nphp1	Rat	choline	multiple interactions	ISO	RGD:1317735	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression more ...	CTD	PMID:20938992
Nphp1	Rat	chrysene	decreases expression	ISO	RGD:1317735	6480464	chrysene results in decreased expression of NPHP1 mRNA	CTD	PMID:26377693
Nphp1	Rat	chrysene	multiple interactions	ISO	RGD:1317735	6480464	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of more ...	CTD	PMID:27858113
Nphp1	Rat	cobalt dichloride	decreases expression	EXP		6480464	cobaltous chloride results in decreased expression of NPHP1 mRNA	CTD	PMID:24386269
Nphp1	Rat	cyclosporin A	decreases expression	ISO	RGD:1317734	6480464	Cyclosporine results in decreased expression of NPHP1 mRNA	CTD	PMID:25562108
Nphp1	Rat	decabromodiphenyl ether	increases expression	EXP		6480464	decabromobiphenyl ether results in increased expression of NPHP1 mRNA	CTD	PMID:23914054
Nphp1	Rat	finasteride	increases expression	EXP		6480464	Finasteride results in increased expression of NPHP1 mRNA	CTD	PMID:24136188
Nphp1	Rat	fipronil	increases expression	EXP		6480464	fipronil results in increased expression of NPHP1 mRNA	CTD	PMID:23962444
Nphp1	Rat	flutamide	increases expression	EXP		6480464	Flutamide results in increased expression of NPHP1 mRNA	CTD	PMID:24136188
Nphp1	Rat	folic acid	multiple interactions	ISO	RGD:1317735	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression more ...	CTD	PMID:20938992
Nphp1	Rat	fonofos	increases methylation	ISO	RGD:1317734	6480464	Fonofos results in increased methylation of NPHP1 promoter	CTD	PMID:22847954
Nphp1	Rat	fulvestrant	multiple interactions	ISO	RGD:1317734	6480464	[bisphenol A co-treated with Fulvestrant] results in decreased methylation of NPHP1 gene	CTD	PMID:31601247
Nphp1	Rat	L-methionine	multiple interactions	ISO	RGD:1317735	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression more ...	CTD	PMID:20938992
Nphp1	Rat	manganese(II) chloride	increases expression	EXP		6480464	manganese chloride results in increased expression of NPHP1 mRNA	CTD	PMID:28801915
Nphp1	Rat	medroxyprogesterone acetate	multiple interactions	ISO	RGD:1317734	6480464	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in increased expression of NPHP1 mRNA	CTD	PMID:20823114
Nphp1	Rat	methotrexate	increases expression	ISO	RGD:1317734	6480464	Methotrexate results in increased expression of NPHP1 mRNA	CTD	PMID:24449571
Nphp1	Rat	methyl methanesulfonate	increases expression	ISO	RGD:1317734	6480464	Methyl Methanesulfonate results in increased expression of NPHP1 mRNA	CTD	PMID:23649840
Nphp1	Rat	methylmercury chloride	decreases expression	ISO	RGD:1317734	6480464	methylmercuric chloride results in decreased expression of NPHP1 mRNA	CTD	PMID:28001369
Nphp1	Rat	nefazodone	increases expression	EXP		6480464	nefazodone results in increased expression of NPHP1 mRNA	CTD	PMID:24136188
Nphp1	Rat	nimesulide	increases expression	EXP		6480464	nimesulide results in increased expression of NPHP1 mRNA	CTD	PMID:24136188
Nphp1	Rat	ozone	multiple interactions	ISO	RGD:1317735	6480464	[Air Pollutants results in increased abundance of [Ozone co-treated with Soot]] which results in increased more ...	CTD	PMID:34911549
Nphp1	Rat	paracetamol	affects expression	ISO	RGD:1317735	6480464	Acetaminophen affects the expression of NPHP1 mRNA	CTD	PMID:17562736
Nphp1	Rat	parathion	increases methylation	ISO	RGD:1317734	6480464	Parathion results in increased methylation of NPHP1 promoter	CTD	PMID:22847954
Nphp1	Rat	perfluorohexanesulfonic acid	increases expression	ISO	RGD:1317735	6480464	perfluorohexanesulfonic acid results in increased expression of NPHP1 mRNA	CTD	PMID:37995155
Nphp1	Rat	sodium fluoride	increases expression	ISO	RGD:1317735	6480464	Sodium Fluoride results in increased expression of NPHP1 protein	CTD	PMID:28918527
Nphp1	Rat	sulindac	increases expression	EXP		6480464	Sulindac results in increased expression of NPHP1 mRNA	CTD	PMID:24136188
Nphp1	Rat	sunitinib	decreases expression	ISO	RGD:1317734	6480464	Sunitinib results in decreased expression of NPHP1 mRNA	CTD	PMID:31533062
Nphp1	Rat	terbufos	increases methylation	ISO	RGD:1317734	6480464	terbufos results in increased methylation of NPHP1 promoter	CTD	PMID:22847954
Nphp1	Rat	testosterone	decreases expression	ISO	RGD:1317734	6480464	Testosterone results in decreased expression of NPHP1 mRNA	CTD	PMID:33359661
Nphp1	Rat	Testosterone propionate	decreases expression	ISO	RGD:1317735	6480464	Testosterone Propionate results in decreased expression of NPHP1 mRNA	CTD	PMID:15601916
Nphp1	Rat	tetraphene	decreases expression	ISO	RGD:1317735	6480464	benz(a)anthracene results in decreased expression of NPHP1 mRNA	CTD	PMID:26377693
Nphp1	Rat	tetraphene	multiple interactions	ISO	RGD:1317735	6480464	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of more ...	CTD	PMID:27858113
Nphp1	Rat	thimerosal	increases expression	ISO	RGD:1317734	6480464	Thimerosal results in increased expression of NPHP1 mRNA	CTD	PMID:27188386
Nphp1	Rat	thioacetamide	decreases expression	EXP		6480464	Thioacetamide results in decreased expression of NPHP1 mRNA	CTD	PMID:34492290
Nphp1	Rat	tolcapone	decreases expression	EXP		6480464	tolcapone results in decreased expression of NPHP1 mRNA	CTD	PMID:24136188
Nphp1	Rat	toluene	decreases expression	EXP		6480464	Toluene results in decreased expression of NPHP1 mRNA	CTD	PMID:22967744
Nphp1	Rat	trichostatin A	affects expression	ISO	RGD:1317734	6480464	trichostatin A affects the expression of NPHP1 mRNA	CTD	PMID:28542535
Nphp1	Rat	triptonide	decreases expression	ISO	RGD:1317735	6480464	triptonide results in decreased expression of NPHP1 mRNA	CTD	PMID:33045310
Nphp1	Rat	valproic acid	affects expression	ISO	RGD:1317735	6480464	Valproic Acid affects the expression of NPHP1 mRNA	CTD	PMID:17292431\|PMID:17963808
Nphp1	Rat	vorinostat	increases expression	ISO	RGD:1317734	6480464	vorinostat results in increased expression of NPHP1 mRNA	CTD	PMID:27188386

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)
Nphp1	Rat	biological_process		ND		1598407	09/2016: no relevant rat data	RGD
Nphp1	Rat	cell projection organization	involved_in	ISO	RGD:1317735	1624291	PMID:19208653	RGD	PMID:19208653
Nphp1	Rat	photoreceptor cell outer segment organization	involved_in	ISO	RGD:1317735	1624291	UniProtKB:Q8K3E5 PMID:20081859	RGD	PMID:20081859
Nphp1	Rat	positive regulation of bicellular tight junction assembly	involved_in	ISO	RGD:1317734	1624291	PMID:19755384	RGD	PMID:19755384
Nphp1	Rat	protein localization	involved_in	ISO	RGD:1317735	1624291	UniProtKB:Q8K3E5 PMID:20081859	RGD	PMID:20081859
Nphp1	Rat	protein localization involved in establishment of planar polarity	involved_in	IBA	FB:FBgn0034264\|PANTHER:PTN002689333	1600115	GO_REF:0000033	GO_Central	GO_REF:0000033
Nphp1	Rat	retina development in camera-type eye	involved_in	ISO	RGD:1317735	1624291	PMID:19208653	RGD	PMID:19208653
Nphp1	Rat	spermatid differentiation	involved_in	ISO	RGD:1317735	1624291	PMID:18684731	RGD	PMID:18684731

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)
Nphp1	Rat	cell-cell junction	located_in	ISO	RGD:1317734	1624291	PMID:21565611	RGD	PMID:21565611
Nphp1	Rat	ciliary base	located_in	ISO	RGD:1317735	1624291	PMID:20169535	RGD	PMID:20169535
Nphp1	Rat	ciliary transition zone	located_in	ISO	RGD:1317735	1624291	PMID:20169535, PMID:21565611, PMID:24302887	RGD	PMID:20169535\|PMID:21565611\|PMID:24302887
Nphp1	Rat	cilium	is_active_in	IBA	MGI:1858233\|PANTHER:PTN002689333\|UniProtKB:O15259\|WB:WBGene00010898	1600115	GO_REF:0000033	GO_Central	GO_REF:0000033
Nphp1	Rat	cilium	located_in	ISO	RGD:1317735	1624291	PMID:20172860	RGD	PMID:20172860
Nphp1	Rat	cytoplasm	located_in	ISO	RGD:1317735	1624291	PMID:21565611	RGD	PMID:21565611
Nphp1	Rat	cytoplasm	is_active_in	IBA	FB:FBgn0034264\|MGI:1858233\|PANTHER:PTN002689333	1600115	GO_REF:0000033	GO_Central	GO_REF:0000033
Nphp1	Rat	motile cilium	located_in	ISO	RGD:1317734	1624291	PMID:16885411	RGD	PMID:16885411
Nphp1	Rat	photoreceptor connecting cilium	located_in	ISO	RGD:1317735	1624291	PMID:16885411	RGD	PMID:16885411
Nphp1	Rat	photoreceptor distal connecting cilium	located_in	ISO	RGD:1317735	1624291	PMID:29899041	RGD	PMID:29899041

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)
Nphp1	Rat	protein binding	enables	ISO	RGD:1317735	1624291	MGI:2144877\|PR:Q7TSU7\|PR:Q80W68\|PR:Q8BR86\|UniProtKB:P59240\|UniProtKB:Q61140\|UniProtKB:Q9CZK6 PMID:10739664, PMID:20233749, PMID:21565611, PMID:25671767, PMID:29899041	RGD	PMID:10739664\|PMID:20233749\|PMID:21565611\|PMID:25671767\|PMID:29899041
Nphp1	Rat	protein binding	enables	ISO	RGD:1317734	1624291	UniProtKB:O75161\|UniProtKB:P01019\|UniProtKB:P03952\|UniProtKB:P06858\|UniProtKB:P31930\|UniProtKB:P40337-2\|UniProtKB:P78371\|UniProtKB:P98161\|UniProtKB:Q13444\|UniProtKB:Q14289\|UniProtKB:Q15051\|UniProtKB:Q2M1P5\|UniProtKB:Q7Z494\|UniProtKB:Q8N157\|UniProtKB:Q92834\|UniProtKB:Q9Y265\|UniProtKB:Q9Y283 PMID:12244321, PMID:12872122, PMID:15661758, PMID:16374509, PMID:18633336, PMID:20664800, PMID:20856870, PMID:21357692, PMID:21565611, PMID:21633164, PMID:23532844, PMID:25825872, PMID:26638075, more ...	RGD	PMID:12244321\|PMID:12872122\|PMID:15661758\|PMID:16374509\|PMID:18633336\|PMID:20664800\|PMID:20856870\|PMID:21357692\|PMID:21565611\|PMID:21633164\|PMID:23532844\|PMID:25825872\|PMID:26638075\|PMID:27173435\|PMID:29959317\|PMID:32814053\|PMID:33961781

#	Reference Title	Reference Citation
1.	Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy.	Caridi G, etal., Nephrol Dial Transplant. 2006 Aug;21(8):2301-3. Epub 2006 Jun 8.
2.	Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.	Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
3.	Rat ISS GO annotations from GOA human gene data--August 2006	GOA data from the GO Consortium
4.	Evidence of oligogenic inheritance in nephronophthisis.	Hoefele J, etal., J Am Soc Nephrol. 2007 Oct;18(10):2789-95. Epub 2007 Sep 12.
5.	Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion.	Hoefele J, etal., Pediatr Nephrol. 2011 Jun;26(6):967-71. doi: 10.1007/s00467-011-1761-9. Epub 2011 Jan 22.
6.	Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.	Lindstrand A, etal., Am J Hum Genet. 2014 May 1;94(5):745-54. doi: 10.1016/j.ajhg.2014.03.017. Epub 2014 Apr 17.
7.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
8.	Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.	Otto EA, etal., Hum Mutat. 2008 Mar;29(3):418-26.
9.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
11.	Comprehensive gene review and curation	RGD comprehensive gene curation
12.	Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.	Soliman NA, etal., Saudi J Kidney Dis Transpl. 2012 Sep;23(5):1090-8. doi: 10.4103/1319-2442.100968.
13.	High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.	Tory K, etal., J Am Soc Nephrol. 2007 May;18(5):1566-75. Epub 2007 Apr 4.

PMID:12477932	PMID:16885411	PMID:18684731	PMID:19208653	PMID:19755384	PMID:20081859	PMID:20169535	PMID:21565611	PMID:24302887	PMID:29899041

Nphp1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	135,413,927 - 135,469,505 (-)	NCBI		GRCr8
mRatBN7.2	3	114,960,650 - 115,016,234 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	114,960,650 - 115,016,234 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	118,850,405 - 118,906,075 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	127,445,951 - 127,501,619 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	125,106,321 - 125,161,956 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	120,316,048 - 120,370,089 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	120,316,047 - 120,373,500 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	126,960,471 - 127,017,986 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	115,263,821 - 115,322,901 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	115,169,392 - 115,225,028 (-)	NCBI
Celera	3	113,795,120 - 113,850,690 (-)	NCBI		Celera
Cytogenetic Map	3	q36	NCBI

NPHP1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	110,123,348 - 110,205,013 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	110,122,311 - 110,205,066 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	110,880,925 - 110,962,590 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	110,237,177 - 110,319,883 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	110,292,999 - 110,319,969	NCBI
Celera	2	104,844,788 - 104,926,515 (+)	NCBI		Celera
Cytogenetic Map	2	q13	NCBI
HuRef	2	104,021,273 - 104,102,972 (-)	NCBI		HuRef
CHM1_1	2	110,885,220 - 110,966,946 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	2	110,588,729 - 110,670,393 (+)	NCBI		T2T-CHM13v2.0

Nphp1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	127,582,652 - 127,630,833 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	127,582,652 - 127,630,817 (-)	Ensembl		GRCm39 Ensembl
GRCm38	2	127,740,732 - 127,788,913 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	127,740,732 - 127,788,897 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	127,566,468 - 127,614,590 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	127,432,171 - 127,480,295 (-)	NCBI		MGSCv36	mm8
Celera	2	128,973,360 - 129,021,982 (-)	NCBI		Celera
Cytogenetic Map	2	F1	NCBI
cM Map	2	62.09	NCBI

Nphp1
(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_004955470	3,260,557 - 3,307,797 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955470	3,261,455 - 3,305,989 (+)	NCBI	ChiLan1.0	ChiLan1.0

NPHP1
(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	12	17,572,890 - 17,654,493 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	2A	17,575,655 - 17,657,258 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2A	91,520,612 - 91,602,187 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	2A	111,625,267 - 111,706,205 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2A	111,625,267 - 111,706,205 (-)	Ensembl	panpan1.1		panPan2

NPHP1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	17	35,076,527 - 35,136,674 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	17	35,076,636 - 35,136,425 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	17	34,845,437 - 34,905,231 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	17	35,847,583 - 35,907,539 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	17	35,847,691 - 35,907,474 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	17	34,975,730 - 35,035,512 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	17	35,044,554 - 35,103,753 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	17	35,253,888 - 35,313,793 (-)	NCBI		UU_Cfam_GSD_1.0

NPHP1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	3	46,316,875 - 46,377,273 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	46,316,864 - 46,378,279 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	3	47,952,796 - 48,013,146 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NPHP1
(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	14	13,520,573 - 13,589,980 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	14	13,520,541 - 13,589,146 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666080	6,101,274 - 6,169,926 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Nphp1
(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_004624749	1,725,598 - 1,779,344 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624749	1,725,515 - 1,779,787 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in Nphp1
236 total Variants

Assembly: Rnor_6.0

Chromosome	Start Pos	End Pos	Reference Nucleotide	Variant Nucleotide	Variant Type	Strain	Variant Page
3	120341001	120341002	C	T	snv	WKY/N (MCW), WKY/NCrl (RGD), WKY/N (2020), WKY/NCrl (2019), WKY/NHsd (RGD)	View more Information

Predicted Target Of

	Summary Value
Count of predictions:	120
Count of miRNA genes:	101
Interacting mature miRNAs:	105
Transcripts:	ENSRNOT00000067727
Prediction methods:	Microtar, Miranda, Rnahybrid
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
2312673	Scl63	Serum cholesterol level QTL 63		0.001	blood cholesterol amount (VT:0000180)	serum total cholesterol level (CMO:0000363)	3	98535255	168026850	Rat
2301414	Kidm37	Kidney mass QTL 37		0.001	kidney mass (VT:0002707)	both kidneys wet weight to body weight ratio (CMO:0000340)	3	70653097	121056321	Rat
1582238	Bw68	Body weight QTL 68	3.2	0.0064	body mass (VT:0001259)	body weight (CMO:0000012)	3	53184593	115665732	Rat
2302373	Gluco39	Glucose level QTL 39	5.01		blood glucose amount (VT:0000188)	blood glucose level area under curve (AUC) (CMO:0000350)	3	98535386	161695835	Rat
1582239	Epfw1	Epididymal fat weight QTL 1	4.5	0.0006	epididymal fat pad mass (VT:0010421)	epididymal fat pad weight to body weight ratio (CMO:0000658)	3	53184593	115665732	Rat
70216	Cm14	Cardiac mass QTL 14	2.1		heart mass (VT:0007028)	heart wet weight (CMO:0000069)	3	31172320	163586636	Rat
2292591	Esta4	Estrogen-induced thymic atrophy QTL 4			thymus mass (VT:0004954)	thymus wet weight (CMO:0000855)	3	47233211	147415807	Rat
1358362	Srcrt2	Stress Responsive Cort QTL 2	2.78		blood corticosterone amount (VT:0005345)	plasma corticosterone level (CMO:0001173)	3	38192233	133483320	Rat
1582216	Bw65	Body weight QTL 65	6.3		body mass (VT:0001259)	body weight (CMO:0000012)	3	102200529	115665732	Rat
737818	Hcar12	Hepatocarcinoma resistance QTL 12	2.6		liver integrity trait (VT:0010547)	volume of individual liver tumorous lesion (CMO:0001078)	3	29463235	118376539	Rat
1582218	Bw74	Body weight QTL 74	3.9	0.0021	body mass (VT:0001259)	body weight (CMO:0000012)	3	53184593	115665732	Rat
1582219	Bw63	Body weight QTL 63	3.8	0.001	body mass (VT:0001259)	body weight (CMO:0000012)	3	96127817	115665732	Rat
1582221	Kidm30	Kidney mass QTL 30	3.5	0.0008	kidney mass (VT:0002707)	both kidneys wet weight (CMO:0000085)	3	64655305	115665732	Rat
1581568	Rf53	Renal function QTL 53			urine total protein amount (VT:0000032)	urine protein excretion rate to body weight ratio (CMO:0001099)	3	56395968	161299569	Rat
1582210	Bw71	Body weight QTL 71	3.3	0.0012	body mass (VT:0001259)	body weight (CMO:0000012)	3	64655305	115665732	Rat
7387306	Bw124	Body weight QTL 124	3.2	0.0003	body mass (VT:0001259)	body weight (CMO:0000012)	3	84091273	129091273	Rat
1578754	Stresp16	Stress response QTL 16	4	0.001	blood renin amount (VT:0003349)	plasma renin activity level (CMO:0000116)	3	112681431	157681431	Rat
1300111	Rf12	Renal function QTL 12	3.78		renal blood flow trait (VT:2000006)	absolute change in renal blood flow rate (CMO:0001168)	3	61017749	121056321	Rat
724523	Tsu1	Thymus enlargement suppressive QTL 1	3.84		thymus mass (VT:0004954)	thymus weight to body weight ratio (CMO:0000612)	3	50437504	115638231	Rat
1600376	Arunc5	Aerobic running capacity QTL 5		0.21	exercise endurance trait (VT:0002332)	maximum distance run on treadmill (CMO:0001406)	3	73376539	118376539	Rat
8694437	Bw167	Body weight QTL 167	22.46	0.001	retroperitoneal fat pad mass (VT:0010430)	retroperitoneal fat pad weight to body weight ratio (CMO:0000635)	3	91797474	136797474	Rat
8662816	Vetf4	Vascular elastic tissue fragility QTL 4	4		renal artery integrity trait (VT:0010642)	number of ruptures of the internal elastic lamina of the renal arteries (CMO:0002563)	3	59242096	157323038	Rat
1559282	Emca5	Estrogen-induced mammary cancer QTL 5	3.9		mammary gland integrity trait (VT:0010552)	percentage of study population developing mammary tumors during a period of time (CMO:0000948)	3	43827364	169034231	Rat
1581503	Cm58	Cardiac mass QTL 58	2.7	0.05	heart left ventricle mass (VT:0007031)	heart left ventricle weight to body weight ratio (CMO:0000530)	3	43827364	121056321	Rat
1354611	Despr2	Despair related QTL 2	3.03	0.0028	locomotor behavior trait (VT:0001392)	amount of time spent in voluntary immobility (CMO:0001043)	3	97084464	142084464	Rat
631649	Bp123	Blood pressure QTL 123	3.2		arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	3	89772419	134772419	Rat
631841	Niddm39	Non-insulin dependent diabetes mellitus QTL 39	3.36		blood glucose amount (VT:0000188)	blood glucose level (CMO:0000046)	3	94856903	159898684	Rat
619618	Rf3	Renal disease susceptibility QTL 3	6.5	0.001	urine albumin amount (VT:0002871)	urine albumin excretion rate to body weight ratio (CMO:0001270)	3	107693393	152693393	Rat
12879848	Bw181	Body weght QTL 181		0.015	body mass (VT:0001259)	body weight (CMO:0000012)	3	70348525	121056321	Rat
2301971	Cm71	Cardiac mass QTL 71	4.63		heart left ventricle mass (VT:0007031)	heart left ventricle weight (CMO:0000776)	3	41874578	155617519	Rat
2312659	Slep7	Serum leptin concentration QTL 7		0.001	blood leptin amount (VT:0005667)	serum leptin level (CMO:0000780)	3	98535255	168026850	Rat
1358885	Bp251	Blood pressure QTL 251	3.8		arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	3	14489145	121056321	Rat
2301970	Bw81	Body weight QTL 81	5.19		body mass (VT:0001259)	body weight (CMO:0000012)	3	41874578	155617519	Rat
1581546	Pur13	Proteinuria QTL 13	2.93	0.0335	urine total protein amount (VT:0000032)	urine protein excretion rate (CMO:0000759)	3	78196190	146592722	Rat
631665	Bw8	Body weight QTL 8	5.5		body mass (VT:0001259)	body weight (CMO:0000012)	3	50437042	119183768	Rat
1331758	Bp207	Blood pressure QTL 207	2.848		arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	3	112287552	135181505	Rat
1358888	Bp264	Blood pressure QTL 264	4.43		arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	3	14489145	121056321	Rat
2293087	Iddm27	Insulin dependent diabetes mellitus QTL 27	2.68		blood glucose amount (VT:0000188)	blood glucose level (CMO:0000046)	3	97551417	147415807	Rat
2312670	Bw94	Body weight QTL 94		0.01	inguinal fat pad mass (VT:0010424)	inguinal fat pad weight to body weight ratio (CMO:0001253)	3	98535255	168026850	Rat
724532	Cm17	Cardiac mass QTL 17	2		heart mass (VT:0007028)	calculated heart weight (CMO:0000073)	3	95735366	140735366	Rat

RH143152

Rat Assembly	Chr	Position (strand)	Source	JBrowse
mRatBN7.2	3	114,979,231 - 114,979,467 (+)	MAPPER	mRatBN7.2
Rnor_6.0	3	120,334,628 - 120,334,863	NCBI	Rnor6.0
Rnor_5.0	3	126,999,170 - 126,999,405	UniSTS	Rnor5.0
RGSC_v3.4	3	115,282,402 - 115,282,637	UniSTS	RGSC3.4
Celera	3	113,813,700 - 113,813,935	UniSTS
RH 3.4 Map	3	986.9	UniSTS
Cytogenetic Map	3	q36	UniSTS

BF403450

Rat Assembly	Chr	Position (strand)	Source	JBrowse
mRatBN7.2	3	114,962,104 - 114,962,314 (+)	MAPPER	mRatBN7.2
Rnor_6.0	3	120,317,501 - 120,317,710	NCBI	Rnor6.0
Rnor_5.0	3	127,016,323 - 127,016,532	UniSTS	Rnor5.0
RGSC_v3.4	3	115,265,275 - 115,265,484	UniSTS	RGSC3.4
Celera	3	113,796,573 - 113,796,782	UniSTS
RH 3.4 Map	3	985.7	UniSTS
Cytogenetic Map	3	q36	UniSTS

BF398852

Rat Assembly	Chr	Position (strand)	Source	JBrowse
mRatBN7.2	3	114,962,149 - 114,962,301 (+)	MAPPER	mRatBN7.2
Rnor_6.0	3	120,317,546 - 120,317,697	NCBI	Rnor6.0
Rnor_5.0	3	127,016,336 - 127,016,487	UniSTS	Rnor5.0
RGSC_v3.4	3	115,265,320 - 115,265,471	UniSTS	RGSC3.4
Celera	3	113,796,618 - 113,796,769	UniSTS
RH 3.4 Map	3	985.7	UniSTS
Cytogenetic Map	3	q36	UniSTS

AU047816

Rat Assembly	Chr	Position (strand)	Source	JBrowse
mRatBN7.2	3	114,991,235 - 114,991,454 (+)	MAPPER	mRatBN7.2
Rnor_6.0	3	120,346,631 - 120,346,847	NCBI	Rnor6.0
Rnor_5.0	3	126,987,186 - 126,987,402	UniSTS	Rnor5.0
RGSC_v3.4	3	115,294,405 - 115,294,621	UniSTS	RGSC3.4
Celera	3	113,825,708 - 113,825,924	UniSTS
Cytogenetic Map	3	q36	UniSTS

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

alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	nervous system	renal system	reproductive system	respiratory system
9	11	49	113	91	90	59	25	59	6	218	97	93	45	60	31


RefSeq Transcripts	NM_001314002	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001314003	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001314004	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	BC168839	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH473949	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JAXUCZ010000003	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSRNOT00000067727 ⟹ ENSRNOP00000060013

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
mRatBN7.2 Ensembl	3	114,960,650 - 115,016,234 (-)	Ensembl
Rnor_6.0 Ensembl	3	120,316,047 - 120,373,500 (-)	Ensembl

RefSeq Acc Id:

NM_001314002 ⟹ NP_001300931

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
GRCr8	3	135,413,927 - 135,469,505 (-)	NCBI
mRatBN7.2	3	114,960,650 - 115,016,234 (-)	NCBI
Rnor_6.0	3	120,316,048 - 120,370,089 (-)	NCBI
Celera	3	113,795,120 - 113,850,690 (-)	NCBI

Sequence:

show sequence

CAACCGGCGCGGTCCCGCCGGCGGCGGCTAGGCCAATGCTCGCCCGGCGGCCGCGGGACCCGCTGCAGGCGCTGAGGCGCCGCGGGCAGGAGCTGAAGCTGCAGGTTGATAGTTTGGTTACTGAAAGC
CAACTAACAGGTGCTCTGGAACCAAGTAAAAGGAGAGATATTTACCAAAGATGTATCCAGTTAAAACAGGCAGTAGATGAAAATAAAAACGCTCTTCAAAAATTAAACAAAGCTGACGAAGCTGCACC
TGTGGGGAACTATGAGCAGAGGAAGGAGGAGGAGCACACACTTCTGGAGAAGCTAGCCTGCCAGCTGCAGGAGCTTGCTGTGGGCATCAGCAGGAAAGACACTCTCAAAGTTGAGGCACACAGTGACA
AGGAAGAAGATGACACCACTGAGGATGATGAAGAAGAAACTGAAGAAACTGGTGGAGAGGAAGAAGAGTCAGAAGGGGACGAGGAAGGAAAGCAGGAGCAAGCCTCCCCAGAACATGCAGAAACTGTC
ACATACATTGCTCTTGGGGACTTCGCTGCTCAGCAGGCTGGCGACCTGACCTTTAAGAAAGGAGACATTCTCCATATAATTGAGAAAAGGCCTGATGGTTGGTGGCTGGCTAAAGATGCTGAAGGAGG
TGAAGGTCTCATTCCCAGGACCTACTTGGAGCCCTATAATAAAGAAGACAAGCTGGAATCAAGCGAAGGCAGTGAGGAGGGTGACGAGGAGGGTGTCGGTGAGGACGGTGAGGATGGTGAGGACGGTG
AGGATGGTGAGGAGGACGTGGAGGTGGTGGATGAAACTGCAGACGGAGCCCAAGTGAAACAGAGAACTGATTCCCACTGGAGTGCGGTTAGAAAAGCTATCTCAGAGCAGATAAACACAGTTGATGTG
TTAGCCACAATGGGAGCCATTCCTGCAGGGTTCCGGCCTTCCACACTCTCCCAGCTGCTGGATGAAGCAGGGGGCCGCTTTCGAGCAAGCTACTTCTTGCAGCCGGAGCTCACGACATCACAGCTGGC
CTTCAGGGATCTAACGTGGGATGCCAAGACAGGCACGATCATGTCAAGACCAAGTCGTGTTTCATTGATTCTGACCCTATGGAGCTGTAAAATGATTCCTCTCCCAGGAACAAGCATACAGGTCCTCA
GCAGACACATCCGCCTCTGCCTGTTTGACGGCAGCAAGGTCCTGAGTAATATTCATACAGTCCGTGCCGTGTGGCAGCCTAAAAAGCCAAAAACATGGACCTTTTCTCCTCAGGTCACTGGCATCTTG
CCATGCTTGCTCGATGGTGACTGTTTTATCAGGTCCAATTCTTCAACTCCAGACCTCGGGATATTATTTGAACTTGGAATTTCTTATATTCGCAATTCGACTGGTGAGAGAGGAGAGTTAAGCTGTGG
CTGGGTGTTTCTTAAGCTTTTCGATGCCAGTGGAGTTCCTATTCCAGCAAAAACATACGAACTCTTCCTGAATGGCGGCACTCCTTATGAAAAAGGTGTTGAAGTAGACCCTTCAGTGTCCAGAAGAG
CACAGGGCAGTGTTTTCCGTCAGATGATAAGTGTGCGGAGGCAACCTCAACTTCTGGTGAAACTTCGGTCTCTGAACAGGAGGTCAAGGGCCATGCTCAGTCTGCTGCCAGAAACCTTGGTGGGGAGT
ATGTGCTCCGCTCACTTGCTGATATTTTACCGACAAATTCTTGGAGATGTGCTCCTGAGAGACAGGACAAGCCTGCAAAGTGCTGATTTAATTAGTCACCCCGTGCTGGCCACCTTCCCTCTGCTCCT
GGAGCAGCCCGATGTGATGGATGCTCTCAGGAGTTCCTGGGCTGAGAAAGAAAGCACACTAAAGCGATCGGAGAAGAGAGACAAAGAGCTCCTAAAGGCCGAGTTCCTCCTGGTCTACCATGACTGCG
TGCTCCCTCTTCTGCATTCCACATTGCTGCCCCCCTTTAGGTGGGCCGAGGAAGAGACAGAGGCTGCTAGATGGAAAGCCATCGCTGACTTCCTCAAGCAAAGCCGAGAGAACGAGGGTTCCCTGAAG
GCTCTTCTGTCACCAGATGGAGTTCACAAACCATTTGACCTTTCAGAGCAGACCTATGACTTCTTGGGTGAAATAAGAAAGAACTCAGGCTAATGATGGCCATGGCTCCCGATTCCCACTGGACCCAG
TGAGTTCCCCAGGATGACTTGGCTCAAACAACAGAACCAAAAGAAACAGACTGGTTAGAACTTAGGTCATATTCTTTTGTGTGCAAATAATATTTTCAAAAAACTATCTAATAATTTGATGCATGTAA
AACAATAAAATAAATTTTATAAGGAA

hide sequence

RefSeq Acc Id:

NM_001314003 ⟹ NP_001300932

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
GRCr8	3	135,413,927 - 135,469,505 (-)	NCBI
mRatBN7.2	3	114,960,650 - 115,016,234 (-)	NCBI
Rnor_6.0	3	120,316,048 - 120,370,089 (-)	NCBI
Celera	3	113,795,120 - 113,850,690 (-)	NCBI

Sequence:

show sequence

CAACCGGCGCGGTCCCGCCGGCGGCGGCTAGGCCAATGCTCGCCCGGCGGCCGCGGGACCCGCT
GCAGGCGCTGAGGCGCCGCGGGCAGGAGCTGAAGCTGCAGGTTGATAGTTTGGTTACTGAAAGCCAACTAACAGGTGCTCTGGAACCAAGTAAAAGGAGAGATATTTACCAAAGATGTATCCAGTTAA
AACAGGCAGTAGATGAAAATAAAAACGCTCTTCAAAAATTAAACAAAGCTGACGAAGCTGCACCTGTGGGGAACTATGAGCAGAGGAAGGAGGAGGAGCACACACTTCTGGAGAAGCTAGCCTGCCAG
CTGCAGGAGCTTGCTGTGGGCATCAGCAGGAAAGACACTCTCAAAGTTGAGGCACACAGTGACAAGGAAGAAGATGACACCACTGAGGATGATGAAGAAGAAACTGAAGAAACTGGTGGAGAGGAAGA
AGAGTCAGAAGGGGACGAGGAAGGAAAGCAGGAGCAAGCCTCCCCAGAACATGCAGAAACTGTCACATACATTGCTCTTGGGGACTTCGCTGCTCAGCAGGCTGGCGACCTGACCTTTAAGAAAGGAG
ACATTCTCCATATAATTGAGAAAAGGCCTGATGGTTGGTGGCTGGCTAAAGATGCTGAAGGAGGTGAAGGTCTCATTCCCAGGACCTACTTGGAGCCCTATAATAAAGAAGACAAGCTGGAATCAAGC
GAAGGCAGTGAGGAGGGTGACGAGGAGGGTGTCGGTGAGGACGGTGAGGATGGTGAGGACGGTGAGGATGGTGAGGAGGACGTGGAGGTGGTGGATGAAACTGCAGACGGAGCCCAAGTGAAACAGAG
AACTGATTCCCACTGGAGTGCGGTTAGAAAAGCTATCTCAGAGCAGATAAACACAGTTGATGTGTTAGCCACAATGGGAGCCATTCCTGCAGGGTTCCGGCCTTCCACACTCTCCCAGCTGCTGGATG
AAGGGGGCCGCTTTCGAGCAAGCTACTTCTTGCAGCCGGAGCTCACGACATCACAGCTGGCCTTCAGGGATCTAACGTGGGATGCCAAGACAGGCACGATCATGTCAAGACCAAGTCGTGTTTCATTG
ATTCTGACCCTATGGAGCTGTAAAATGATTCCTCTCCCAGGAACAAGCATACAGGTCCTCAGCAGACACATCCGCCTCTGCCTGTTTGACGGCAGCAAGGTCCTGAGTAATATTCATACAGTCCGTGC
CGTGTGGCAGCCTAAAAAGCCAAAAACATGGACCTTTTCTCCTCAGGTCACTGGCATCTTGCCATGCTTGCTCGATGGTGACTGTTTTATCAGGTCCAATTCTTCAACTCCAGACCTCGGGATATTAT
TTGAACTTGGAATTTCTTATATTCGCAATTCGACTGGTGAGAGAGGAGAGTTAAGCTGTGGCTGGGTGTTTCTTAAGCTTTTCGATGCCAGTGGAGTTCCTATTCCAGCAAAAACATACGAACTCTTC
CTGAATGGCGGCACTCCTTATGAAAAAGGTGTTGAAGTAGACCCTTCAGTGTCCAGAAGAGCACAGGGCAGTGTTTTCCGTCAGATGATAAGTGTGCGGAGGCAACCTCAACTTCTGGTGAAACTTCG
GTCTCTGAACAGGAGGTCAAGGGCCATGCTCAGTCTGCTGCCAGAAACCTTGGTGGGGAGTATGTGCTCCGCTCACTTGCTGATATTTTACCGACAAATTCTTGGAGATGTGCTCCTGAGAGACAGGA
CAAGCCTGCAAAGTGCTGATTTAATTAGTCACCCCGTGCTGGCCACCTTCCCTCTGCTCCTGGAGCAGCCCGATGTGATGGATGCTCTCAGGAGTTCCTGGGCTGAGAAAGAAAGCACACTAAAGCGA
TCGGAGAAGAGAGACAAAGAGCTCCTAAAGGCCGAGTTCCTCCTGGTCTACCATGACTGCGTGCTCCCTCTTCTGCATTCCACATTGCTGCCCCCCTTTAGGTGGGCCGAGGAAGAGACAGAGGCTGC
TAGATGGAAAGCCATCGCTGACTTCCTCAAGCAAAGCCGAGAGAACGAGGGTTCCCTGAAGGCTCTTCTGTCACCAGATGGAGTTCACAAACCATTTGACCTTTCAGAGCAGACCTATGACTTCTTGG
GTGAAATAAGAAAGAACTCAGGCTAATGATGGCCATGGCTCCCGATTCCCACTGGACCCAGTGAGTTCCCCAGGATGACTTGGCTCAAACAACAGAACCAAAAGAAACAGACTGGTTAGAACTTAGGT
CATATTCTTTTGTGTGCAAATAATATTTTCAAAAAACTATCTAATAATTTGATGCATGTAAAACAATAAAATAAATTTTATAAGGAA

hide sequence

RefSeq Acc Id:

NM_001314004 ⟹ NP_001300933

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
GRCr8	3	135,413,927 - 135,469,505 (-)	NCBI
mRatBN7.2	3	114,960,650 - 115,016,234 (-)	NCBI
Rnor_6.0	3	120,316,048 - 120,370,089 (-)	NCBI
Celera	3	113,795,120 - 113,850,690 (-)	NCBI

Sequence:

show sequence

CAACCGGCGCGGTCCCGCCGGCGGCGGCTAGGCCAATGCTCGCCCGGCGGCCGCGGGACCCGCTGCAGGCGCTGAGGCGCCGCGGGCAGGAGCTGAAGCTGCAGGTTGATAGTTTGGTTACTGAAAGC
CAACTAACAGGTGCTCTGGAACCAAGTAAAAGGAGAGATATTTACCAAAGATGTATCCAGTTAAAACAGGCAGTAGATGAAAATAAAAACGCTCTTCAAAAATTAAACAAAGCTGACGAAGCTGCACC
TGTGGGGAACTATGAGCAGAGGAAGGAGGAGGAGCACACACTTCTGGAGAAGCTAGCCTGCCAGCTGCAGGAGCTTGCTGTGGGCATCAGCAGGAAAGACACTCTCAAAGTTGAGGCACACAGTGACA
AGGAAGAAGATGACACCACTGAGGATGATGAAGAAGAAACTGAAGAAACTGGTGGAGAGGAAGAAGAGTCAGAAGGGGACGAGGAAGGAAAGCAGGAGCAAGCCTCCCCAGAACATGCAGAAACTGTC
ACATACATTGCTCTTGGGGACTTCGCTGCTCAGCAGGCTGGCGACCTGACCTTTAAGAAAGGAGACATTCTCCATATAATTGAGAAAAGGCCTGATGGTTGGTGGCTGGCTAAAGATGCTGAAGGAGG
TGAAGGTCTCATTCCCAGGACCTACTTGGAGCCCTATAATAAAGAAGACAAGCTGGAATCAAGCGAAGGCAGTGAGGAGGGTGACGAGGAGGGTGTCGGTGAGGACGGTGAGGATGGTGAGGACGGTG
AGGATGGTGAGGAGGACGTGGAGGTGGTGGATGAAACTGCAGACGGAGCCCAAGTGAAACAGAGAACTGATTCCCACTGGAGTGCGGTTAGAAAAGCTATCTCAGAGATAAACACAGTTGATGTGTTA
GCCACAATGGGAGCCATTCCTGCAGGGTTCCGGCCTTCCACACTCTCCCAGCTGCTGGATGAAGGGGGCCGCTTTCGAGCAAGCTACTTCTTGCAGCCGGAGCTCACGACATCACAGCTGGCCTTCAG
GGATCTAACGTGGGATGCCAAGACAGGCACGATCATGTCAAGACCAAGTCGTGTTTCATTGATTCTGACCCTATGGAGCTGTAAAATGATTCCTCTCCCAGGAACAAGCATACAGGTCCTCAGCAGAC
ACATCCGCCTCTGCCTGTTTGACGGCAGCAAGGTCCTGAGTAATATTCATACAGTCCGTGCCGTGTGGCAGCCTAAAAAGCCAAAAACATGGACCTTTTCTCCTCAGGTCACTGGCATCTTGCCATGC
TTGCTCGATGGTGACTGTTTTATCAGGTCCAATTCTTCAACTCCAGACCTCGGGATATTATTTGAACTTGGAATTTCTTATATTCGCAATTCGACTGGTGAGAGAGGAGAGTTAAGCTGTGGCTGGGT
GTTTCTTAAGCTTTTCGATGCCAGTGGAGTTCCTATTCCAGCAAAAACATACGAACTCTTCCTGAATGGCGGCACTCCTTATGAAAAAGGTGTTGAAGTAGACCCTTCAGTGTCCAGAAGAGCACAGG
GCAGTGTTTTCCGTCAGATGATAAGTGTGCGGAGGCAACCTCAACTTCTGGTGAAACTTCGGTCTCTGAACAGGAGGTCAAGGGCCATGCTCAGTCTGCTGCCAGAAACCTTGGTGGGGAGTATGTGC
TCCGCTCACTTGCTGATATTTTACCGACAAATTCTTGGAGATGTGCTCCTGAGAGACAGGACAAGCCTGCAAAGTGCTGATTTAATTAGTCACCCCGTGCTGGCCACCTTCCCTCTGCTCCTGGAGCA
GCCCGATGTGATGGATGCTCTCAGGAGTTCCTGGGCTGAGAAAGAAAGCACACTAAAGCGATCGGAGAAGAGAGACAAAGAGCTCCTAAAGGCCGAGTTCCTCCTGGTCTACCATGACTGCGTGCTCC
CTCTTCTGCATTCCACATTGCTGCCCCCCTTTAGGTGGGCCGAGGAAGAGACAGAGGCTGCTAGATGGAAAGCCATCGCTGACTTCCTCAAGCAAAGCCGAGAGAACGAGGGTTCCCTGAAGGCTCTT
CTGTCACCAGATGGAGTTCACAAACCATTTGACCTTTCAGAGCAGACCTATGACTTCTTGGGTGAAATAAGAAAGAACTCAGGCTAATGATGGCCATGGCTCCCGATTCCCACTGGACCCAGTGAGTT
CCCCAGGATGACTTGGCTCAAACAACAGAACCAAAAGAAACAGACTGGTTAGAACTTAGGTCATATTCTTTTGTGTGCAAATAATATTTTCAAAAAACTATCTAATAATTTGATGCATGTAAAACAAT
AAAATAAATTTTATAAGGAA

hide sequence


Protein RefSeqs	NP_001300931	(Get FASTA)	NCBI Sequence Viewer
	NP_001300932	(Get FASTA)	NCBI Sequence Viewer
	NP_001300933	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI68839	(Get FASTA)	NCBI Sequence Viewer
	EDL80128	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSRNOP00000060013
	ENSRNOP00000060013.2
	ENSRNOP00000104569

RefSeq Acc Id:	NP_001300933 ⟸ NM_001314004
- Peptide Label:	isoform c
- UniProtKB:	B5DEX2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLARRPRDPLQALRRRGQELKLQVDSLVTESQLTGALEPSKRRDIYQRCIQLKQAVDENKNALQKLNKADEAAPVGNYEQRKEEEHTLLEKLACQLQELAVGISRKDTLKVEAHSDKEEDDTTEDDEE ETEETGGEEEESEGDEEGKQEQASPEHAETVTYIALGDFAAQQAGDLTFKKGDILHIIEKRPDGWWLAKDAEGGEGLIPRTYLEPYNKEDKLESSEGSEEGDEEGVGEDGEDGEDGEDGEEDVEVVDE TADGAQVKQRTDSHWSAVRKAISEINTVDVLATMGAIPAGFRPSTLSQLLDEGGRFRASYFLQPELTTSQLAFRDLTWDAKTGTIMSRPSRVSLILTLWSCKMIPLPGTSIQVLSRHIRLCLFDGSKV LSNIHTVRAVWQPKKPKTWTFSPQVTGILPCLLDGDCFIRSNSSTPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGVEVDPSVSRRAQGSVFRQMISVRR QPQLLVKLRSLNRRSRAMLSLLPETLVGSMCSAHLLIFYRQILGDVLLRDRTSLQSADLISHPVLATFPLLLEQPDVMDALRSSWAEKESTLKRSEKRDKELLKAEFLLVYHDCVLPLLHSTLLPPFR WAEEETEAARWKAIADFLKQSRENEGSLKALLSPDGVHKPFDLSEQTYDFLGEIRKNSG hide sequence

RefSeq Acc Id:	NP_001300932 ⟸ NM_001314003
- Peptide Label:	isoform b
- UniProtKB:	B5DEX2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLARRPRDPLQALRRRGQELKLQVDSLVTESQLTGALEPSKRRDIYQRCIQLKQAVDENKNALQ KLNKADEAAPVGNYEQRKEEEHTLLEKLACQLQELAVGISRKDTLKVEAHSDKEEDDTTEDDEEETEETGGEEEESEGDEEGKQEQASPEHAETVTYIALGDFAAQQAGDLTFKKGDILHIIEKRPDG WWLAKDAEGGEGLIPRTYLEPYNKEDKLESSEGSEEGDEEGVGEDGEDGEDGEDGEEDVEVVDETADGAQVKQRTDSHWSAVRKAISEQINTVDVLATMGAIPAGFRPSTLSQLLDEGGRFRASYFLQ PELTTSQLAFRDLTWDAKTGTIMSRPSRVSLILTLWSCKMIPLPGTSIQVLSRHIRLCLFDGSKVLSNIHTVRAVWQPKKPKTWTFSPQVTGILPCLLDGDCFIRSNSSTPDLGILFELGISYIRNST GERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGVEVDPSVSRRAQGSVFRQMISVRRQPQLLVKLRSLNRRSRAMLSLLPETLVGSMCSAHLLIFYRQILGDVLLRDRTSLQSADLISHP VLATFPLLLEQPDVMDALRSSWAEKESTLKRSEKRDKELLKAEFLLVYHDCVLPLLHSTLLPPFRWAEEETEAARWKAIADFLKQSRENEGSLKALLSPDGVHKPFDLSEQTYDFLGEIRKNSG hide sequence

RefSeq Acc Id:	NP_001300931 ⟸ NM_001314002
- Peptide Label:	isoform a
- UniProtKB:	D3ZJ87 (UniProtKB/TrEMBL), B5DEX2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLARRPRDPLQALRRRGQELKLQVDSLVTESQLTGALEPSKRRDIYQRCIQLKQAVDENKNALQKLNKADEAAPVGNYEQRKEEEHTLLEKLACQLQELAVGISRKDTLKVEAHSDKEEDDTTEDDEE ETEETGGEEEESEGDEEGKQEQASPEHAETVTYIALGDFAAQQAGDLTFKKGDILHIIEKRPDGWWLAKDAEGGEGLIPRTYLEPYNKEDKLESSEGSEEGDEEGVGEDGEDGEDGEDGEEDVEVVDE TADGAQVKQRTDSHWSAVRKAISEQINTVDVLATMGAIPAGFRPSTLSQLLDEAGGRFRASYFLQPELTTSQLAFRDLTWDAKTGTIMSRPSRVSLILTLWSCKMIPLPGTSIQVLSRHIRLCLFDGS KVLSNIHTVRAVWQPKKPKTWTFSPQVTGILPCLLDGDCFIRSNSSTPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGVEVDPSVSRRAQGSVFRQMISV RRQPQLLVKLRSLNRRSRAMLSLLPETLVGSMCSAHLLIFYRQILGDVLLRDRTSLQSADLISHPVLATFPLLLEQPDVMDALRSSWAEKESTLKRSEKRDKELLKAEFLLVYHDCVLPLLHSTLLPP FRWAEEETEAARWKAIADFLKQSRENEGSLKALLSPDGVHKPFDLSEQTYDFLGEIRKNSG hide sequence

Ensembl Acc Id:

ENSRNOP00000060013 ⟸ ENSRNOT00000067727

Protein Domains

SH3

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-D3ZJ87-F1-model_v2	AlphaFold	D3ZJ87	1-457	view protein structure

eQTL		View at Phenogen
WGCNA		View at Phenogen
Tissue/Strain Expression		View at Phenogen

Database	Acc Id	Source(s)
BioCyc Gene	G2FUF-47961	BioCyc
Ensembl Genes	ENSRNOG00000015756	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSRNOT00000067727	ENTREZGENE
	ENSRNOT00000067727.3	UniProtKB/TrEMBL
	ENSRNOT00000153600	ENTREZGENE
Gene3D-CATH	SH3 Domains	UniProtKB/TrEMBL
InterPro	NPHP1	UniProtKB/TrEMBL
	NPHP1_SH3	UniProtKB/TrEMBL
	SH3-like_dom_sf	UniProtKB/TrEMBL
	SH3_domain	UniProtKB/TrEMBL
KEGG Report	rno:296136	UniProtKB/TrEMBL
NCBI Gene	296136	ENTREZGENE
PANTHER	NEPHROCYSTIN	UniProtKB/TrEMBL
	PTHR15176:SF1	UniProtKB/TrEMBL
Pfam	SH3_1	UniProtKB/TrEMBL
PhenoGen	Nphp1	PhenoGen
PRINTS	SH3DOMAIN	UniProtKB/TrEMBL
PROSITE	SH3	UniProtKB/TrEMBL
RatGTEx	ENSRNOG00000015756	RatGTEx
SMART	SH3	UniProtKB/TrEMBL
Superfamily-SCOP	SSF50044	UniProtKB/TrEMBL
UniProt	B5DEX2	ENTREZGENE, UniProtKB/TrEMBL
	D3ZJ87	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-05-20	Nphp1	nephrocystin 1	Nphp1	nephronophthisis 1 (juvenile)	Nomenclature updated to reflect human and mouse nomenclature	1299863	APPROVED
2015-07-29	Nphp1	nephronophthisis 1 (juvenile)	LOC680233	hypothetical protein LOC680233	Data merged from RGD:1594198	737654	PROVISIONAL
2013-01-22	Nphp1	nephronophthisis 1 (juvenile)	Nphp1	nephronophthisis 1 (juvenile) homolog (human)	Nomenclature updated to reflect human and mouse nomenclature	1299863	APPROVED
2008-04-30	Nphp1	nephronophthisis 1 (juvenile) homolog (human)	Nphp1_predicted	nephronophthisis 1 (juvenile) homolog (human) (predicted)	'predicted' is removed	2292626	APPROVED
2008-01-09	LOC680233	hypothetical protein LOC680233	LOC688095	hypothetical protein LOC688095	Data merged from RGD:1593568	1643240	APPROVED
2006-11-20	LOC680233	hypothetical protein LOC680233			Symbol and Name status set to provisional	70820	PROVISIONAL
2006-11-20	LOC688095	hypothetical protein LOC688095			Symbol and Name status set to provisional	70820	PROVISIONAL
2006-03-30	Nphp1_predicted	nephronophthisis 1 (juvenile) homolog (human) (predicted)		nephronophthisis 1 (juvenile) (predicted)	Name updated	1299863	APPROVED
2005-01-12	Nphp1_predicted	nephronophthisis 1 (juvenile) (predicted)			Symbol and Name status set to approved	70820	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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