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

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Gene: Bbs1 (Bardet-Biedl syndrome 1) Rattus norvegicus
Analyze
Symbol: Bbs1
Name: Bardet-Biedl syndrome 1
RGD ID: 1307581
Description: Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity; phosphoprotein binding activity; and signaling receptor binding activity. Predicted to be involved in several processes, including non-motile cilium assembly; photoreceptor cell maintenance; and regulation of cilium beat frequency involved in ciliary motility. Predicted to act upstream of or within several processes, including Golgi to plasma membrane protein transport; nervous system development; and olfactory behavior. Predicted to be located in centriolar satellite; ciliary membrane; and motile cilium. Predicted to be part of BBSome. Predicted to be active in axoneme and centrosome. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 1. Orthologous to human BBS1 (Bardet-Biedl syndrome 1); INTERACTS WITH 6-propyl-2-thiouracil; acrylamide; bisphenol A.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: Bardet-Biedl syndrome 1 homolog; Bardet-Biedl syndrome 1 homolog (human); Bardet-Biedl syndrome 1 protein; LOC309156
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Candidate Gene For: Arrd2
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
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Original Reference(s)
Bbs1RatBardet-Biedl syndrome  ISOBBS1 (Homo sapiens)1579969DNA:mutations: :multiple (human)RGD 
Bbs1Rathyperinsulinism  ISOBbs1 (Mus musculus)243065268 RGD 
Bbs1Ratobesity no_associationISOBBS1 (Homo sapiens)1601314DNA:mutation: :p.M390R (human)RGD 
Bbs1Ratobesity  ISOBbs1 (Mus musculus)243065268 RGD 
1 to 13 of 13 rows
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Original Reference(s)
Bbs1RatAicardi-Goutieres Syndrome 3  ISOBBS1 (Homo sapiens)8554872ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3ClinVarPMID:28492532
Bbs1RatBardet-Biedl syndrome  ISOBBS1 (Homo sapiens)8554872ClinVar Annotator: match by term: Bardet-Biedl syndromeClinVarPMID:10564830 more ...
Bbs1RatBardet-Biedl syndrome 1  ISOBBS1 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:10564830 more ...
Bbs1RatBardet-Biedl Syndrome 1/7, Digenic  ISOBBS1 (Homo sapiens)8554872ClinVar Annotator: match by term: Bardet-Biedl syndrome 1/7 and digenicClinVarPMID:12567324 more ...
Bbs1Ratcongenital muscular dystrophy-dystroglycanopathy type A13  ISOBBS1 (Homo sapiens)8554872ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13ClinVarPMID:22219654 and PMID:28492532
Bbs1Ratfundus dystrophy  ISOBBS1 (Homo sapiens)8554872ClinVar Annotator: match by term: Retinal dystrophyClinVarPMID:12118255 more ...
Bbs1Ratgenetic disease  ISOBBS1 (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:12118255 more ...
Bbs1Ratglycogen storage disease V  ISOBBS1 (Homo sapiens)8554872ClinVar Annotator: match by term: Glycogen storage disease and type VClinVarPMID:12118255 more ...
Bbs1Ratimmunodeficiency 90  ISOBBS1 (Homo sapiens)8554872ClinVar Annotator: match by term: Infections more ...ClinVarPMID:28492532
Bbs1Ratintellectual disability  ISOBBS1 (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVar 
Bbs1Ratretinitis pigmentosa  ISOBBS1 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:12118255 more ...
Bbs1Ratretinitis pigmentosa  ISOBBS1 (Homo sapiens)8554872ClinVar Annotator: match by term: Retinitis pigmentosaClinVarPMID:12118255 more ...
Bbs1RatUsher syndrome  ISOBBS1 (Homo sapiens)8554872ClinVar Annotator: match by term: Usher syndromeClinVarPMID:12118255 more ...
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Original Reference(s)
Bbs1RatBardet-Biedl syndrome 1  ISOBBS1 (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTD 
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Original Reference(s)
Bbs1RatBardet-Biedl syndrome 1  ISSBbs1 (Mus musculus)13592920OMIM:209900MouseDO 
Bbs1Ratobesity  ISSBbs1 (Mus musculus)13592920OMIM:601665MouseDO 
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Original Reference(s)
Bbs1RatBardet-Biedl syndrome 1  ISOBBS1 (Homo sapiens)7240710 OMIM 

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Original Reference(s)
Bbs1Rat17alpha-ethynylestradiol multiple interactionsISOBbs1 (Mus musculus)6480464[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of BBS1 mRNACTDPMID:17942748
Bbs1Rat2,3,7,8-tetrachlorodibenzodioxine multiple interactionsISOBbs1 (Mus musculus)6480464[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of BBS1 mRNACTDPMID:17942748
Bbs1Rat3-isobutyl-1-methyl-7H-xanthine multiple interactionsISOBBS1 (Homo sapiens)6480464[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of BBS1 mRNACTDPMID:28628672
Bbs1Rat4-hydroxyphenyl retinamide increases expressionISOBbs1 (Mus musculus)6480464Fenretinide results in increased expression of BBS1 mRNACTDPMID:28973697
Bbs1Rat6-propyl-2-thiouracil increases expressionEXP 6480464Propylthiouracil results in increased expression of BBS1 mRNACTDPMID:24780913
Bbs1Ratacrylamide increases expressionEXP 6480464Acrylamide results in increased expression of BBS1 mRNACTDPMID:28959563
Bbs1Ratacrylamide decreases expressionISOBBS1 (Homo sapiens)6480464Acrylamide results in decreased expression of BBS1 mRNACTDPMID:32763439
Bbs1Ratacrylamide increases expressionISOBbs1 (Mus musculus)6480464Acrylamide results in increased expression of BBS1 mRNACTDPMID:30807115
Bbs1Rataflatoxin B1 increases expressionISOBbs1 (Mus musculus)6480464Aflatoxin B1 results in increased expression of BBS1 mRNACTDPMID:19770486
Bbs1Rataflatoxin B1 increases expressionISOBBS1 (Homo sapiens)6480464Aflatoxin B1 results in increased expression of BBS1 mRNACTDPMID:21641981
Bbs1Ratatrazine decreases expressionISOBBS1 (Homo sapiens)6480464Atrazine results in decreased expression of BBS1 mRNACTDPMID:22378314
Bbs1Ratbenzo[a]pyrene affects methylationISOBBS1 (Homo sapiens)6480464Benzo(a)pyrene affects the methylation of BBS1 promoterCTDPMID:27901495
Bbs1Ratbeta-lapachone decreases expressionISOBBS1 (Homo sapiens)6480464beta-lapachone results in decreased expression of BBS1 mRNACTDPMID:38218311
Bbs1Ratbis(2-ethylhexyl) phthalate increases expressionISOBbs1 (Mus musculus)6480464Diethylhexyl Phthalate results in increased expression of BBS1 mRNACTDPMID:34319233
Bbs1Ratbisphenol A affects expressionEXP 6480464bisphenol A affects the expression of BBS1 mRNACTDPMID:25181051
Bbs1Ratbisphenol A decreases expressionEXP 6480464bisphenol A results in decreased expression of BBS1 mRNACTDPMID:30816183 more ...
Bbs1Ratbisphenol F multiple interactionsISOBBS1 (Homo sapiens)6480464[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of BBS1 mRNACTDPMID:28628672
Bbs1Ratbutanal decreases expressionISOBBS1 (Homo sapiens)6480464butyraldehyde results in decreased expression of BBS1 mRNACTDPMID:26079696
Bbs1RatC60 fullerene increases expressionEXP 6480464fullerene C60 results in increased expression of BBS1 mRNACTDPMID:19167457
Bbs1Ratcadmium dichloride increases expressionISOBBS1 (Homo sapiens)6480464Cadmium Chloride results in increased expression of BBS1 proteinCTDPMID:24527689

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Biological Process
1 to 20 of 67 rows

  
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Original Reference(s)
Bbs1Ratadult behavior acts_upstream_of_or_withinIEAUniProtKB:Q3V3N7 and ensembl:ENSMUSP000000553211600115GO_REF:0000107EnsemblGO_REF:0000107
Bbs1Ratadult behavior acts_upstream_of_or_withinISOBbs1 (Mus musculus)1624291MGI:3767672 PMID:18032602RGDPMID:18032602
Bbs1Ratbiological_process  ND 159840702/2007: no relevant rat dataRGD 
Bbs1Ratbrain morphogenesis acts_upstream_of_or_withinISOBbs1 (Mus musculus)1624291MGI:3767672 PMID:18032602RGDPMID:18032602
Bbs1Ratbrain morphogenesis acts_upstream_of_or_withinIEAUniProtKB:Q3V3N7 and ensembl:ENSMUSP000000553211600115GO_REF:0000107EnsemblGO_REF:0000107
Bbs1Ratcartilage development acts_upstream_of_or_withinISOBbs1 (Mus musculus)1624291MGI:3767672 PMID:19195025RGDPMID:19195025
Bbs1Ratcartilage development acts_upstream_of_or_withinIEAUniProtKB:Q3V3N7 and ensembl:ENSMUSP000000553211600115GO_REF:0000107EnsemblGO_REF:0000107
Bbs1Ratcerebral cortex development acts_upstream_of_or_withinIEAUniProtKB:Q3V3N7 and ensembl:ENSMUSP000000553211600115GO_REF:0000107EnsemblGO_REF:0000107
Bbs1Ratcerebral cortex development acts_upstream_of_or_withinISOBbs1 (Mus musculus)1624291MGI:3767672 PMID:18032602RGDPMID:18032602
Bbs1Ratcilium assembly involved_inISOBBS1 (Homo sapiens)1624291 PMID:17574030RGDPMID:17574030
Bbs1Ratcilium assembly involved_inIEAUniProtKB:Q3V3N7 and ensembl:ENSMUSP000000553211600115GO_REF:0000107EnsemblGO_REF:0000107
Bbs1Ratcilium assembly acts_upstream_of_or_withinISOBbs1 (Mus musculus)1624291MGI:3767672 PMID:18032602 and PMID:27979967RGDPMID:18032602 and PMID:27979967
Bbs1Ratcilium assembly involved_inIEAUniProtKB:Q8NFJ9 and ensembl:ENSP000003174691600115GO_REF:0000107EnsemblGO_REF:0000107
Bbs1Ratcilium assembly involved_inISOBbs1 (Mus musculus)1624291 PMID:18299575RGDPMID:18299575
Bbs1Ratdendrite development acts_upstream_of_or_withinIEAUniProtKB:Q3V3N7 and ensembl:ENSMUSP000000553211600115GO_REF:0000107EnsemblGO_REF:0000107
Bbs1Ratdendrite development acts_upstream_of_or_withinISOBbs1 (Mus musculus)1624291MGI:3055491 PMID:15322545RGDPMID:15322545
Bbs1Ratfat cell differentiation involved_inIEAUniProtKB:Q3V3N7 and ensembl:ENSMUSP000000553211600115GO_REF:0000107EnsemblGO_REF:0000107
Bbs1Ratfat cell differentiation involved_inISOBbs1 (Mus musculus)1624291 PMID:17379567RGDPMID:17379567
Bbs1Ratfertilization acts_upstream_of_or_withinISOBbs1 (Mus musculus)1624291MGI:3767672 PMID:18032602RGDPMID:18032602
Bbs1Ratfertilization acts_upstream_of_or_withinIEAUniProtKB:Q3V3N7 and ensembl:ENSMUSP000000553211600115GO_REF:0000107EnsemblGO_REF:0000107
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Cellular Component
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Original Reference(s)
Bbs1Rataxoneme is_active_inIBAPANTHER:PTN000466746 and WB:WBGene000002411600115GO_REF:0000033GO_CentralGO_REF:0000033
Bbs1RatBBSome part_ofISOBBS1 (Homo sapiens)1624291 PMID:17574030 more ...RGDPMID:17574030 more ...
Bbs1RatBBSome part_ofIEAUniProtKB:Q8NFJ9 and ensembl:ENSP000003174691600115GO_REF:0000107EnsemblGO_REF:0000107
Bbs1RatBBSome part_ofISOBbs1 (Mus musculus)1624291 PMID:20080638 more ...RGDPMID:20080638 more ...
Bbs1RatBBSome part_ofIBAMGI:1277215 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
Bbs1RatBBSome part_ofIEAUniProtKB:Q3V3N7 and ensembl:ENSMUSP000000553211600115GO_REF:0000107EnsemblGO_REF:0000107
Bbs1RatBBSome part_ofIEAInterPro:IPR0287841600115GO_REF:0000002InterProGO_REF:0000002
Bbs1Ratcentriolar satellite located_inIEAUniProtKB:Q3V3N7 and ensembl:ENSMUSP000000553211600115GO_REF:0000107EnsemblGO_REF:0000107
Bbs1Ratcentriolar satellite located_inISOBbs1 (Mus musculus)1624291 PMID:27979967RGDPMID:27979967
Bbs1Ratcentrosome located_inISOBBS1 (Homo sapiens)1624291 PMID:18762586RGDPMID:18762586
Bbs1Ratcentrosome located_inIEAUniProtKB:Q3V3N7 and ensembl:ENSMUSP000000553211600115GO_REF:0000107EnsemblGO_REF:0000107
Bbs1Ratcentrosome located_inIEAUniProtKB:Q8NFJ9 and ensembl:ENSP000003174691600115GO_REF:0000107EnsemblGO_REF:0000107
Bbs1Ratcentrosome located_inISOBbs1 (Mus musculus)1624291 PMID:21471969RGDPMID:21471969
Bbs1Ratcentrosome is_active_inIBAMGI:1277215 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
Bbs1Ratciliary membrane located_inIEAUniProtKB:Q8NFJ9 and ensembl:ENSP000003174691600115GO_REF:0000107EnsemblGO_REF:0000107
Bbs1Ratciliary membrane located_inISOBBS1 (Homo sapiens)1624291 PMID:19081074RGDPMID:19081074
Bbs1Ratcilium located_inIEAUniProtKB:Q3V3N7 and ensembl:ENSMUSP000000553211600115GO_REF:0000107EnsemblGO_REF:0000107
Bbs1Ratcilium located_inISOBbs1 (Mus musculus)1624291 PMID:27979967RGDPMID:27979967
Bbs1Ratmotile cilium located_inISOBbs1 (Mus musculus)1624291 PMID:18299575RGDPMID:18299575
Bbs1Ratmotile cilium located_inIEAUniProtKB:Q3V3N7 and ensembl:ENSMUSP000000553211600115GO_REF:0000107EnsemblGO_REF:0000107
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Molecular Function
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Original Reference(s)
Bbs1Ratpatched binding enablesISOBBS1 (Homo sapiens)1624291UniProtKB:Q13635 and PMID:22228099RGDPMID:22228099
Bbs1Ratpatched binding enablesIBAPANTHER:PTN000466746 and UniProtKB:Q8NFJ91600115GO_REF:0000033GO_CentralGO_REF:0000033
Bbs1Ratpatched binding enablesIEAUniProtKB:Q8NFJ9 and ensembl:ENSP000003174691600115GO_REF:0000107EnsemblGO_REF:0000107
Bbs1Ratphosphoprotein binding enablesIEAUniProtKB:Q3V3N7 and ensembl:ENSMUSP000000553211600115GO_REF:0000107EnsemblGO_REF:0000107
Bbs1Ratphosphoprotein binding enablesISOBbs1 (Mus musculus)1624291PR:Q811T9-1 PMID:21471969RGDPMID:21471969
Bbs1Ratprotein binding enablesISOBBS1 (Homo sapiens)1624291UniProtKB:P05062 more ...RGDPMID:16327777 more ...
Bbs1Ratprotein binding enablesISOBbs1 (Mus musculus)1624291PR:Q8BMD2 more ...RGDPMID:17574030 more ...
Bbs1RatRNA polymerase II-specific DNA-binding transcription factor binding enablesISOBBS1 (Homo sapiens)1624291UniProtKB:Q99496 and PMID:22302990RGDPMID:22302990
Bbs1RatRNA polymerase II-specific DNA-binding transcription factor binding enablesIEAUniProtKB:Q8NFJ9 and ensembl:ENSP000003174691600115GO_REF:0000107EnsemblGO_REF:0000107
Bbs1Ratsignaling receptor binding enablesISOBbs1 (Mus musculus)1624291PR:P48356 more ...RGDPMID:19150989
Bbs1Ratsignaling receptor binding enablesIEAUniProtKB:Q3V3N7 and ensembl:ENSMUSP000000553211600115GO_REF:0000107EnsemblGO_REF:0000107
Bbs1Ratsmoothened binding enablesISOBBS1 (Homo sapiens)1624291UniProtKB:Q99835 and PMID:22228099RGDPMID:22228099
Bbs1Ratsmoothened binding enablesIEAUniProtKB:Q8NFJ9 and ensembl:ENSP000003174691600115GO_REF:0000107EnsemblGO_REF:0000107
Bbs1Ratsmoothened binding enablesIBAPANTHER:PTN000466746 and UniProtKB:Q8NFJ91600115GO_REF:0000033GO_CentralGO_REF:0000033
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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. 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 MGI mouse gene data--August 2006 MGD data from the GO Consortium
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. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. Comprehensive gene review and curation RGD comprehensive gene curation
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.
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PMID:15322545   PMID:16170314   PMID:17379567   PMID:17574030   PMID:17980398   PMID:18032602   PMID:18299575   PMID:18762586   PMID:19150989   PMID:19195025   PMID:20080638   PMID:21471969  
PMID:22072986   PMID:22228099   PMID:22302990   PMID:22500027   PMID:23160237   PMID:23943788   PMID:24550735   PMID:27979967  



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
(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
(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
(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 in Bbs1
108 total Variants

Predicted Target Of
Summary Value
Count of predictions:523
Count of miRNA genes:256
Interacting mature miRNAs:326
Transcripts:ENSRNOT00000026915
Prediction methods:Microtar, 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.


1 to 10 of 85 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
1578778Pur4Proteinuria QTL 43.30.003urine total protein amount (VT:0000032)urine total protein excretion rate (CMO:0000756)1150700247252085048Rat
1354646Kidm18Kidney mass QTL 185.7kidney mass (VT:0002707)calculated kidney weight (CMO:0000160)1151162512256448636Rat
1357335Bw39Body weight QTL 393.3body mass (VT:0001259)body weight (CMO:0000012)1197814409242814409Rat
1578780Cm52Cardiac mass QTL 523.30.0001heart mass (VT:0007028)heart wet weight (CMO:0000069)181591954219808434Rat
2302375Bw83Body weight QTL 834.870.0002body mass (VT:0001259)body weight (CMO:0000012)1197697768242697768Rat
1354652Kidm20Kidney mass QTL 204.3kidney mass (VT:0002707)calculated kidney weight (CMO:0000160)1177227632256448636Rat
2293674Bss39Bone structure and strength QTL 397.10.0001femur strength trait (VT:0010010)femur total energy absorbed before break (CMO:0001677)1201554356246554356Rat
2302378Insul11Insulin level QTL 113.25blood insulin amount (VT:0001560)serum insulin level (CMO:0000358)1144267353251128347Rat
1354653Despr9Despair related QTL 90.00019locomotor behavior trait (VT:0001392)amount of experiment time spent in a discrete space in an experimental apparatus (CMO:0000958)1167909849212909849Rat
2293673Bss27Bone structure and strength QTL 2718.630.0001femur morphology trait (VT:0000559)femur midshaft cortical cross-sectional area (CMO:0001663)1171629477216629477Rat

1 to 10 of 85 rows
RH129849  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21202,186,240 - 202,186,437 (+)MAPPERmRatBN7.2
Rnor_6.01220,147,683 - 220,147,879NCBIRnor6.0
Rnor_5.01227,078,681 - 227,078,877UniSTSRnor5.0
RGSC_v3.41207,503,490 - 207,503,686UniSTSRGSC3.4
Celera1199,725,855 - 199,726,051UniSTS
RH 3.4 Map11555.9UniSTS
Cytogenetic Map1q43UniSTS
RH140927  
Rat AssemblyChrPosition (strand)SourceJBrowse
Rnor_5.01227,097,314 - 227,097,513NCBIRnor5.0
Rnor_5.0935,130,602 - 35,130,801NCBIRnor5.0
RGSC_v3.43138,288,501 - 138,288,699UniSTSRGSC3.4
RGSC_v3.41207,522,473 - 207,522,671UniSTSRGSC3.4
Celera930,011,590 - 30,011,788UniSTS
Celera1199,744,378 - 199,744,576UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map3q41UniSTS




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



Ensembl Acc Id: ENSRNOT00000026915   ⟹   ENSRNOP00000026915
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1202,186,125 - 202,204,067 (-)Ensembl
Rnor_6.0 Ensembl1220,147,327 - 220,165,678 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000097583   ⟹   ENSRNOP00000085404
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1202,186,125 - 202,204,067 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000104874   ⟹   ENSRNOP00000087914
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1202,186,125 - 202,204,067 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000110110   ⟹   ENSRNOP00000087522
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1202,188,352 - 202,204,086 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000111822   ⟹   ENSRNOP00000082124
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1202,187,158 - 202,204,074 (-)Ensembl
RefSeq Acc Id: NM_001107569   ⟹   NP_001101039
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81211,615,533 - 211,633,468 (-)NCBI
mRatBN7.21202,186,150 - 202,204,086 (-)NCBI
Rnor_6.01220,147,592 - 220,165,527 (-)NCBI
Rnor_5.01227,078,590 - 227,096,525 (-)NCBI
RGSC_v3.41207,503,399 - 207,521,683 (-)RGD
Celera1199,725,764 - 199,743,588 (-)RGD
Sequence:
RefSeq Acc Id: XM_008760137   ⟹   XP_008758359
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81211,614,195 - 211,633,504 (-)NCBI
mRatBN7.21202,184,812 - 202,204,118 (-)NCBI
Rnor_6.01220,146,084 - 220,165,545 (-)NCBI
Sequence:
RefSeq Acc Id: XM_039079420   ⟹   XP_038935348
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81211,614,195 - 211,633,330 (-)NCBI
mRatBN7.21202,184,812 - 202,203,971 (-)NCBI
1 to 12 of 12 rows
Protein RefSeqs NP_001101039 (Get FASTA)   NCBI Sequence Viewer  
  XP_008758359 (Get FASTA)   NCBI Sequence Viewer  
  XP_038935348 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein EDM12435 (Get FASTA)   NCBI Sequence Viewer  
  EDM12436 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000026915.5
  ENSRNOP00000082124
  ENSRNOP00000082124.1
  ENSRNOP00000085404
  ENSRNOP00000085404.1
  ENSRNOP00000087522.1
  ENSRNOP00000087914.1
1 to 12 of 12 rows
RefSeq Acc Id: NP_001101039   ⟸   NM_001107569
- UniProtKB: D4A4U2 (UniProtKB/TrEMBL),   A6HZ05 (UniProtKB/TrEMBL),   A0A8I5ZVJ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_008758359   ⟸   XM_008760137
- Peptide Label: isoform X2
- UniProtKB: A0A8I6A032 (UniProtKB/TrEMBL),   A0A8I5ZVJ8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000026915   ⟸   ENSRNOT00000026915
RefSeq Acc Id: XP_038935348   ⟸   XM_039079420
- Peptide Label: isoform X1
- UniProtKB: A0A8I5ZVJ8 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSRNOP00000082124   ⟸   ENSRNOT00000111822
Name Modeler Protein Id AA Range Protein Structure
AF-D4A4U2-F1-model_v2 AlphaFold D4A4U2 1-594 view protein structure


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



1 to 26 of 26 rows
Database
Acc Id
Source(s)
BioCyc Gene G2FUF-56729 BioCyc
Ensembl Genes ENSRNOG00000019832 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000026915.7 UniProtKB/TrEMBL
  ENSRNOT00000097583 ENTREZGENE
  ENSRNOT00000097583.1 UniProtKB/TrEMBL
  ENSRNOT00000104874.1 UniProtKB/TrEMBL
  ENSRNOT00000110110.1 UniProtKB/TrEMBL
  ENSRNOT00000111822 ENTREZGENE
  ENSRNOT00000111822.1 UniProtKB/TrEMBL
InterPro BBS1 UniProtKB/TrEMBL
  BBS1_N UniProtKB/TrEMBL
  Quino_AlcDH-like UniProtKB/TrEMBL
KEGG Report rno:309156 UniProtKB/TrEMBL
NCBI Gene 309156 ENTREZGENE
PANTHER BARDET-BIEDL SYNDROME 1 PROTEIN UniProtKB/TrEMBL
  PTHR20870 UniProtKB/TrEMBL
Pfam BBS1 UniProtKB/TrEMBL
PhenoGen Bbs1 PhenoGen
RatGTEx ENSRNOG00000019832 RatGTEx
Superfamily-SCOP Quin_alc_DH_like UniProtKB/TrEMBL
UniProt A0A8I5ZVJ8 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I6A032 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I6A6T6_RAT UniProtKB/TrEMBL
  A0A8I6A851_RAT UniProtKB/TrEMBL
  A6HZ05 ENTREZGENE, UniProtKB/TrEMBL
  D4A4U2 ENTREZGENE, UniProtKB/TrEMBL
1 to 26 of 26 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2009-11-05 Bbs1  Bardet-Biedl syndrome 1  Bbs1  Bardet-Biedl syndrome 1 homolog (human)   Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-04-30 Bbs1  Bardet-Biedl syndrome 1 homolog (human)   Bbs1_predicted  Bardet-Biedl syndrome 1 homolog (human) (predicted)  'predicted' is removed 2292626 APPROVED
2006-03-30 Bbs1_predicted  Bardet-Biedl syndrome 1 homolog (human) (predicted)    Bardet-Biedl syndrome 1 (predicted)  Name updated 1299863 APPROVED
2005-01-12 Bbs1_predicted  Bardet-Biedl syndrome 1 (predicted)      Symbol and Name status set to approved 70820 APPROVED