Bbs1 (Bardet-Biedl syndrome 1) - Rat Genome Database

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Advanced Search (OLGA)
Gene: Bbs1 (Bardet-Biedl syndrome 1) Mus musculus
Analyze
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
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39194,936,906 - 4,956,681 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl194,936,906 - 4,956,656 (-)EnsemblGRCm39 Ensembl
GRCm38194,886,878 - 4,906,653 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl194,886,878 - 4,906,628 (-)EnsemblGRCm38mm10GRCm38
MGSCv37194,886,882 - 4,906,627 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36194,889,158 - 4,906,612 (-)NCBIMGSCv36mm8
Celera194,757,796 - 4,779,714 (-)NCBICelera
Cytogenetic Map19ANCBI
cM Map194.14NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
axoneme  (IBA)
BBSome  (IBA,IDA,ISO)
centriolar satellite  (IDA)
centrosome  (IBA,IDA,ISO)
ciliary basal body  (ISO)
ciliary membrane  (ISO)
cilium  (IDA)
cytoplasm  (IEA)
motile cilium  (IMP)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal blood vessel morphology  (IEA)
abnormal cone electrophysiology  (IAGP)
abnormal ependyma motile cilium morphology  (IAGP)
abnormal eye electrophysiology  (IAGP)
abnormal eye morphology  (IEA)
abnormal fat pad morphology  (IAGP)
abnormal neuronal precursor proliferation  (IAGP)
abnormal olfactory epithelium cilium morphology  (IAGP)
abnormal olfactory sensory neuron morphology  (IAGP)
abnormal orientation of outer hair cell stereociliary bundles  (IAGP)
abnormal outer hair cell stereociliary bundle morphology  (IAGP)
abnormal photoreceptor outer segment morphology  (IAGP)
abnormal placenta morphology  (IEA)
abnormal placenta vasculature  (IEA)
abnormal retina photoreceptor morphology  (IAGP)
abnormal rod electrophysiology  (IAGP)
absent sperm flagellum  (IAGP)
anophthalmia  (IEA)
decreased aggression towards mice  (IAGP)
decreased birth body size  (IAGP)
decreased dendritic spine density  (IAGP)
decreased locomotor activity  (IAGP)
decreased neuronal precursor proliferation  (IAGP)
decreased striatum size  (IAGP)
dilated brain ventricle  (IAGP)
dilated lateral ventricle  (IAGP)
disorganized photoreceptor inner segment  (IAGP)
disorganized photoreceptor outer segment  (IAGP)
edema  (IEA)
embryonic lethality during organogenesis, incomplete penetrance  (IAGP)
enlarged lateral ventricles  (IAGP)
enlarged third ventricle  (IAGP)
hydrocephaly  (IAGP)
impaired olfaction  (IAGP)
increased brown adipose tissue amount  (IAGP)
increased circulating leptin level  (IAGP)
increased food intake  (IAGP)
increased heart rate  (IAGP)
increased neuron apoptosis  (IAGP)
increased total body fat amount  (IAGP)
male infertility  (IAGP)
microphthalmia  (IEA)
obese  (IAGP)
photoreceptor inner segment degeneration  (IAGP)
preweaning lethality, complete penetrance  (IEA)
retina degeneration  (IAGP)
retina outer nuclear layer degeneration  (IAGP)
small hippocampus  (IAGP)
thin cerebral cortex  (IAGP)
References

References - curated
# 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.
Additional References at PubMed
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:37998397   PMID:38155679   PMID:38355793  


Genomics

Comparative Map Data
Bbs1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39194,936,906 - 4,956,681 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl194,936,906 - 4,956,656 (-)EnsemblGRCm39 Ensembl
GRCm38194,886,878 - 4,906,653 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl194,886,878 - 4,906,628 (-)EnsemblGRCm38mm10GRCm38
MGSCv37194,886,882 - 4,906,627 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36194,889,158 - 4,906,612 (-)NCBIMGSCv36mm8
Celera194,757,796 - 4,779,714 (-)NCBICelera
Cytogenetic Map19ANCBI
cM Map194.14NCBI
BBS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381166,510,635 - 66,533,598 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1166,510,606 - 66,533,613 (+)EnsemblGRCh38hg38GRCh38
GRCh371166,278,106 - 66,301,069 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361166,034,695 - 66,057,660 (+)NCBINCBI36Build 36hg18NCBI36
Build 341166,034,694 - 66,057,660NCBI
Celera1163,598,354 - 63,621,361 (+)NCBICelera
Cytogenetic Map11q13.2NCBI
HuRef1162,606,029 - 62,628,992 (+)NCBIHuRef
CHM1_11166,161,845 - 66,184,809 (+)NCBICHM1_1
T2T-CHM13v2.01166,506,874 - 66,529,839 (+)NCBIT2T-CHM13v2.0
Bbs1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81211,614,195 - 211,633,504 (-)NCBIGRCr8
mRatBN7.21202,184,812 - 202,204,118 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1202,186,125 - 202,204,086 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1210,539,190 - 210,557,170 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01217,631,564 - 217,649,496 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01210,322,591 - 210,340,523 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01220,146,084 - 220,165,545 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1220,147,327 - 220,165,678 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01227,078,590 - 227,096,525 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41207,503,399 - 207,521,683 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11207,658,767 - 207,675,153 (-)NCBI
Celera1199,725,764 - 199,743,588 (-)NCBICelera
Cytogenetic Map1q43NCBI
Bbs1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542218,825,756 - 18,844,036 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542218,825,756 - 18,843,820 (-)NCBIChiLan1.0ChiLan1.0
BBS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2967,736,682 - 67,760,911 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11168,779,386 - 68,803,756 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01161,868,257 - 61,892,473 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11165,192,346 - 65,216,274 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1165,192,355 - 65,216,274 (+)Ensemblpanpan1.1panPan2
BBS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11850,816,126 - 50,835,354 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1849,426,815 - 49,443,963 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01851,854,538 - 51,873,747 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1851,853,428 - 51,873,589 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11850,955,485 - 50,974,765 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01850,531,013 - 50,548,161 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01851,320,949 - 51,338,319 (-)NCBIUU_Cfam_GSD_1.0
Bbs1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049476,607,347 - 6,634,045 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365993,059,148 - 3,076,299 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365993,059,274 - 3,076,853 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BBS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl25,886,990 - 5,906,388 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.125,886,989 - 5,906,468 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.224,963,170 - 4,982,613 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BBS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.117,737,887 - 7,765,022 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl17,737,578 - 7,764,732 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038105,022,016 - 105,048,815 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bbs1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476719,875,535 - 19,893,694 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476719,875,597 - 19,893,652 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Bbs1
602 total Variants
miRNA Target Status

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.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
4142302Nstr1_mnerve sheath tumor resistance QTL 1 (mouse)Not determined19122371338Mouse
1301271Datd_mdopamine transporter density (mouse)Not determined19132340234Mouse
1300923Bits4_mbitterness sensitivity 4 (mouse)Not determined19332321637323348Mouse
4142406Pbctlp1_mperipheral blood cytotoxic T lymphocyte percentage 1 (mouse)Not determined132875174Mouse
1300776Lfp3_mlong free running period 3 (mouse)Not determined19120328703Mouse
1300904Chab5_mcholesterol absorption 5 (mouse)Not determined19165376435653927Mouse
26884385Skwq14_mskull length QTL 14, 16 week (mouse)19325000035877400Mouse
1301800Faq10_mfluctuating asymmetry QTL 10 (mouse)Not determined19332321637323348Mouse
1300591Pas3_mpulmonary adenoma susceptibility 3 (mouse)Not determined19332321637323348Mouse
1302126Skull26_mskull morphology 26 (mouse)Not determined19332321637323348Mouse
4142161Drinksac2_mdrink saccharin 2 (mouse)Not determined120695286Mouse
1357819Tgct2_mtesticular germ cell tumor 2 (mouse)Not determined19332855120539663Mouse

Markers in Region
C86324  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38194,907,240 - 4,907,456UniSTSGRCm38
MGSCv37194,907,240 - 4,907,456UniSTSGRCm37
Celera194,780,326 - 4,780,542UniSTS
Cytogenetic Map19AUniSTS
Whitehead/MRC_RH1959.73UniSTS
AW821961  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38194,907,365 - 4,907,612UniSTSGRCm38
MGSCv37194,907,365 - 4,907,612UniSTSGRCm37
Celera194,780,451 - 4,780,698UniSTS
Cytogenetic Map19AUniSTS
Whitehead/MRC_RH1960.35UniSTS
AI451249  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38194,887,132 - 4,887,211UniSTSGRCm38
MGSCv37194,887,132 - 4,887,211UniSTSGRCm37
Celera194,758,046 - 4,758,125UniSTS
Cytogenetic Map19AUniSTS
Whitehead/MRC_RH1965.1UniSTS
UniSTS:237864  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38194,889,294 - 4,889,514UniSTSGRCm38
MGSCv37194,889,294 - 4,889,514UniSTSGRCm37
Celera194,760,208 - 4,760,428UniSTS
Cytogenetic Map19AUniSTS
D19Ertd609e  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38194,889,160 - 4,889,359UniSTSGRCm38
MGSCv37194,889,160 - 4,889,359UniSTSGRCm37
Celera194,760,074 - 4,760,273UniSTS
Cytogenetic Map19AUniSTS
cM Map19 UniSTS
D10Mit157.2  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6D1UniSTS
Cytogenetic Map16B4UniSTS
Cytogenetic Map18E2UniSTS
Cytogenetic Map4C3UniSTS
Cytogenetic Map7B2UniSTS
Cytogenetic Map4D2.3UniSTS
Cytogenetic Map11E1UniSTS
Cytogenetic Map14E2.2UniSTS
Cytogenetic Map4C7UniSTS
Cytogenetic Map2H4UniSTS
Cytogenetic Map1FUniSTS
Cytogenetic Map6C3UniSTS
Cytogenetic Map11DUniSTS
Cytogenetic Map3G2UniSTS
Cytogenetic Map17A1UniSTS
Cytogenetic Map9F2UniSTS
Cytogenetic Map12F1UniSTS
Cytogenetic Map19C2UniSTS
Cytogenetic Map3BUniSTS
Cytogenetic Map8C1UniSTS
Cytogenetic Map18A2UniSTS
Cytogenetic Map3F2UniSTS
Cytogenetic Map14C3UniSTS
Cytogenetic Map8E1UniSTS
Cytogenetic Map8E2UniSTS
Cytogenetic Map5B1UniSTS
Cytogenetic Map18B1UniSTS
Cytogenetic Map9CUniSTS
Cytogenetic Map14C2UniSTS
Cytogenetic Map6A1UniSTS
Cytogenetic Map10B4UniSTS
Cytogenetic Map13D2.1UniSTS
Cytogenetic Map5E5UniSTS
Cytogenetic Map11B1.3UniSTS
Cytogenetic Map4D1UniSTS
Cytogenetic Map9A5.2UniSTS
Cytogenetic Map3F1UniSTS
Cytogenetic Map17E3UniSTS
Cytogenetic Map11B3UniSTS
Cytogenetic Map1H4UniSTS
Cytogenetic Map6A3UniSTS
Cytogenetic Map5E4-E5UniSTS
Cytogenetic Map15E1UniSTS
Cytogenetic Map13DUniSTS
Cytogenetic Map14BUniSTS
Cytogenetic Map14D1UniSTS
Cytogenetic Map7B4UniSTS
Cytogenetic Map8D3UniSTS
Cytogenetic MapXDUniSTS
Cytogenetic Map17A3.3UniSTS
Cytogenetic Map7E2UniSTS
Cytogenetic Map1H2.3UniSTS
Cytogenetic Map7A2UniSTS
Cytogenetic Map7F3UniSTS
Cytogenetic Map9F1UniSTS
Cytogenetic Map10C1UniSTS
Cytogenetic Map4E2UniSTS
Cytogenetic Map16A1UniSTS
Cytogenetic Map8B3.3UniSTS
Cytogenetic Map8D2UniSTS
Cytogenetic Map3DUniSTS
Cytogenetic Map15D2UniSTS
Cytogenetic Map17B1UniSTS
Cytogenetic Map7A3UniSTS
Cytogenetic Map15F1UniSTS
Cytogenetic Map16B2UniSTS
Cytogenetic Map7CUniSTS
Cytogenetic Map3F2.1UniSTS
Cytogenetic Map6F3UniSTS
Cytogenetic Map1C4UniSTS
Cytogenetic Map11E2UniSTS
Cytogenetic Map11B5UniSTS
Cytogenetic Map9F3UniSTS
Cytogenetic Map2BUniSTS
Cytogenetic Map13B3UniSTS
Cytogenetic Map9A4UniSTS
Cytogenetic Map5A3UniSTS
Cytogenetic Map2H1UniSTS
Cytogenetic Map16B1UniSTS
Cytogenetic Map1A5UniSTS
Cytogenetic Map11CUniSTS
Cytogenetic Map9E1UniSTS
Cytogenetic Map6G1UniSTS
Cytogenetic MapXA2UniSTS
Cytogenetic Map13B1UniSTS
Cytogenetic Map5E2UniSTS
Cytogenetic Map12C1UniSTS
Cytogenetic Map5FUniSTS
Cytogenetic Map4D3UniSTS
Cytogenetic Map10C2UniSTS
Cytogenetic Map9BUniSTS
Cytogenetic Map5G2UniSTS
Cytogenetic Map7F1UniSTS
Cytogenetic Map12C3UniSTS
Cytogenetic Map10A4UniSTS
Cytogenetic Map8A2UniSTS
Cytogenetic Map18A1UniSTS
Cytogenetic Map12A1.1UniSTS
Cytogenetic Map1C2UniSTS
Cytogenetic Map11B2UniSTS
Cytogenetic Map6E3UniSTS
Cytogenetic Map5C3.3UniSTS
Cytogenetic Map1BUniSTS
Cytogenetic Map17A3.1UniSTS
Cytogenetic Map7A1UniSTS
Cytogenetic Map2E5UniSTS
Cytogenetic Map11A1UniSTS
Cytogenetic Map4B1UniSTS
Cytogenetic Map15A2UniSTS
Cytogenetic Map8C3UniSTS
Cytogenetic Map2A3UniSTS
Cytogenetic Map5G3UniSTS
Cytogenetic Map4A3UniSTS
Cytogenetic Map2H3UniSTS
Cytogenetic Map8A1UniSTS
Cytogenetic Map8A1.1UniSTS
Cytogenetic Map16A3UniSTS
Cytogenetic Map10B1UniSTS
Cytogenetic Map19AUniSTS
Cytogenetic Map10A1UniSTS
Cytogenetic Map13D1UniSTS
Cytogenetic Map4A1UniSTS
Cytogenetic Map9A3UniSTS
Cytogenetic Map17CUniSTS
Cytogenetic Map1DUniSTS
Cytogenetic Map5E3UniSTS
Cytogenetic Map15D3UniSTS
Cytogenetic Map2H2UniSTS
Cytogenetic Map7D3UniSTS
Cytogenetic Map2A1UniSTS
Cytogenetic Map14C1UniSTS
Cytogenetic Map14E5UniSTS
Cytogenetic Map10CUniSTS
Cytogenetic Map18B2UniSTS
Cytogenetic Map2F1UniSTS
Cytogenetic Map10D3UniSTS
Cytogenetic Map17A2UniSTS
Cytogenetic Map2C3UniSTS
Cytogenetic Map1C3UniSTS
Cytogenetic Map17B2UniSTS
Cytogenetic Map5B2UniSTS
Cytogenetic Map5G1UniSTS
Cytogenetic Map4C6UniSTS
Cytogenetic Map13C3UniSTS
Cytogenetic Map2E1UniSTS
Cytogenetic Map17A3.2-A3.3UniSTS
Cytogenetic Map19C3UniSTS
Cytogenetic Map7E3UniSTS
Cytogenetic Map13C1UniSTS
Cytogenetic Map9E3.1UniSTS
Cytogenetic Map15E3UniSTS
Cytogenetic Map6B1UniSTS
Cytogenetic MapXE3UniSTS
Cytogenetic Map4C4UniSTS
Cytogenetic Map3E3UniSTS
Cytogenetic Map11A4UniSTS
Cytogenetic Map4C5UniSTS
Cytogenetic Map18B3UniSTS
Cytogenetic Map9A2UniSTS
Cytogenetic Map7E1UniSTS
Cytogenetic Map5D-E1UniSTS
Cytogenetic Map5B3UniSTS
Cytogenetic Map13A2-A3UniSTS
Cytogenetic Map5A2UniSTS
Cytogenetic Map4B3UniSTS
Cytogenetic Map1E4UniSTS
Cytogenetic Map17E4UniSTS
Cytogenetic Map1G2UniSTS
Cytogenetic Map15B3.1UniSTS
Cytogenetic Map12EUniSTS
Cytogenetic MapXA5UniSTS
Cytogenetic Map6A3.3UniSTS
Cytogenetic Map6G3UniSTS
Cytogenetic Map6F2UniSTS
Cytogenetic Map5C1UniSTS
Cytogenetic Map4D2.1UniSTS
Cytogenetic Map4A5UniSTS
Cytogenetic Map3F2.2UniSTS
Cytogenetic Map1E3-E4UniSTS
Cytogenetic Map9F1-F3UniSTS
Cytogenetic Map1C1.1UniSTS
Cytogenetic Map14D2UniSTS
Cytogenetic Map12A2UniSTS
Cytogenetic Map17A3-BUniSTS
Cytogenetic Map7F5UniSTS
Cytogenetic Map14A3UniSTS
Cytogenetic Map5G1.1UniSTS
Cytogenetic MapXF2-F4UniSTS
Cytogenetic Map7D2UniSTS
Cytogenetic Map2F3UniSTS
Cytogenetic Map10A3UniSTS
Cytogenetic MapXA7.3UniSTS
Cytogenetic Map9F1-F2UniSTS
Cytogenetic Map13A3.2UniSTS
Cytogenetic Map10A2UniSTS
Cytogenetic Map1C1UniSTS
Cytogenetic Map1A1UniSTS
Cytogenetic Map12D3UniSTS
Cytogenetic Map1A3-A5UniSTS
Cytogenetic Map2A2UniSTS
Cytogenetic Map3A1UniSTS
Cytogenetic MapXA3.3UniSTS
Cytogenetic Map16A-B1UniSTS
Cytogenetic Map1D2.3UniSTS
Cytogenetic Map6B2.3UniSTS
Cytogenetic Map2G3UniSTS
Cytogenetic MapXA2-A3.1UniSTS
Cytogenetic Map9A5.3UniSTS
Cytogenetic Map14A2-BUniSTS
Cytogenetic Map8E1-E2UniSTS
Cytogenetic Map8A3UniSTS
Cytogenetic Map1G3-H1UniSTS
Cytogenetic Map8B3-C1UniSTS
Cytogenetic Map19C1UniSTS
Cytogenetic Map8C5UniSTS
Cytogenetic Map8A4UniSTS
Cytogenetic Map15F3UniSTS
Cytogenetic Map14E4UniSTS
Cytogenetic Map4D2.2UniSTS
Cytogenetic MapXF5UniSTS
cM Map1040.0UniSTS
Whitehead Genetic1033.9UniSTS


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENSMUST00000053506   ⟹   ENSMUSP00000055321
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl194,936,906 - 4,956,656 (-)Ensembl
GRCm38.p6 Ensembl194,886,878 - 4,906,628 (-)Ensembl
Ensembl Acc Id: ENSMUST00000235498
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl194,948,830 - 4,956,646 (-)Ensembl
GRCm38.p6 Ensembl194,898,802 - 4,906,618 (-)Ensembl
Ensembl Acc Id: ENSMUST00000236150
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl194,942,915 - 4,947,745 (-)Ensembl
GRCm38.p6 Ensembl194,892,887 - 4,897,717 (-)Ensembl
Ensembl Acc Id: ENSMUST00000236538
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl194,950,568 - 4,956,397 (-)Ensembl
GRCm38.p6 Ensembl194,900,540 - 4,906,369 (-)Ensembl
Ensembl Acc Id: ENSMUST00000237085   ⟹   ENSMUSP00000157393
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl194,940,660 - 4,956,648 (-)Ensembl
GRCm38.p6 Ensembl194,890,632 - 4,906,620 (-)Ensembl
Ensembl Acc Id: ENSMUST00000237362   ⟹   ENSMUSP00000157728
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl194,940,691 - 4,956,648 (-)Ensembl
GRCm38.p6 Ensembl194,890,663 - 4,906,620 (-)Ensembl
Ensembl Acc Id: ENSMUST00000237638
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl194,951,468 - 4,956,655 (-)Ensembl
GRCm38.p6 Ensembl194,901,440 - 4,906,627 (-)Ensembl
Ensembl Acc Id: ENSMUST00000238170   ⟹   ENSMUSP00000157830
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl194,940,511 - 4,956,656 (-)Ensembl
GRCm38.p6 Ensembl194,890,483 - 4,906,628 (-)Ensembl
RefSeq Acc Id: NM_001033128   ⟹   NP_001028300
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39194,936,910 - 4,956,655 (-)NCBI
GRCm38194,886,882 - 4,906,627 (-)NCBI
MGSCv37194,886,882 - 4,906,627 (-)RGD
Celera194,757,796 - 4,779,714 (-)RGD
cM Map19 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006531788   ⟹   XP_006531851
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39194,936,906 - 4,956,681 (-)NCBI
GRCm38194,886,878 - 4,906,653 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001028300   ⟸   NM_001033128
- UniProtKB: Q3V3N7 (UniProtKB/TrEMBL),   A0A494B8X5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006531851   ⟸   XM_006531788
- Peptide Label: isoform X1
- UniProtKB: A0A494B8X5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSMUSP00000157393   ⟸   ENSMUST00000237085
Ensembl Acc Id: ENSMUSP00000157728   ⟸   ENSMUST00000237362
Ensembl Acc Id: ENSMUSP00000055321   ⟸   ENSMUST00000053506
Ensembl Acc Id: ENSMUSP00000157830   ⟸   ENSMUST00000238170
Protein Domains
Bardet-Biedl syndrome 1 N-terminal

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

Promoters
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 AssemblyChrPosition (strand)Source
MGSCv36194,906,349 - 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 AssemblyChrPosition (strand)Source
GRCm38194,906,627 - 4,906,687EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1277215 AgrOrtholog
Ensembl Genes ENSMUSG00000006464 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000053506 ENTREZGENE
  ENSMUST00000053506.8 UniProtKB/Swiss-Prot
  ENSMUST00000237085.2 UniProtKB/TrEMBL
  ENSMUST00000237362.2 UniProtKB/TrEMBL
  ENSMUST00000238170.2 UniProtKB/TrEMBL
InterPro BBS1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BBS1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Quinoprotein_ADH-like_supfam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:52028 UniProtKB/Swiss-Prot
MGD MGI:1277215 ENTREZGENE
NCBI Gene 52028 ENTREZGENE
PANTHER BARDET-BIEDL SYNDROME 1 PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR20870 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BBS1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Bbs1 PhenoGen
Superfamily-SCOP SSF50998 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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