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

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
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: mRatBN7.2 - mRatBN7.2 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


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
axoneme  (IBA)
BBSome  (IBA,ISO)
centriolar satellite  (ISO)
centrosome  (IBA,ISO)
ciliary membrane  (ISO)
cilium  (ISO)
motile cilium  (ISO)

Molecular Function

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. 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.
Additional References at PubMed
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  


Genomics

Comparative Map Data
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

.
Variants in Bbs1
108 total Variants
miRNA Target Status

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.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
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
2302375Bw83Body weight QTL 834.870.0002body mass (VT:0001259)body weight (CMO:0000012)1197697768242697768Rat
1578780Cm52Cardiac mass QTL 523.30.0001heart mass (VT:0007028)heart wet weight (CMO:0000069)181591954219808434Rat
2293674Bss39Bone structure and strength QTL 397.10.0001femur strength trait (VT:0010010)femur total energy absorbed before break (CMO:0001677)1201554356246554356Rat
1354652Kidm20Kidney mass QTL 204.3kidney mass (VT:0002707)calculated kidney weight (CMO:0000160)1177227632256448636Rat
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
2293677Bss41Bone structure and strength QTL 419.380.0001lumbar vertebra size trait (VT:0010518)lumbar vertebra cross-sectional area (CMO:0001689)1171629477216629477Rat
1302787Stl25Serum triglyceride level QTL 252.70.0073blood triglyceride amount (VT:0002644)plasma triglyceride level (CMO:0000548)1180359209210702199Rat
1549830Bss1Bone structure and strength QTL 14.8femur strength trait (VT:0010010)femur ultimate force (CMO:0001675)1172609619217609619Rat
70163Bw20Body weight QTL 205.1body mass (VT:0001259)body weight (CMO:0000012)1174133260219133260Rat
7794788Mcs32Mammary carcinoma susceptibility QTL 322.61mammary gland integrity trait (VT:0010552)mammary tumor incidence/prevalence measurement (CMO:0000946)1115540693238914717Rat
1600395Niddm69Non-insulin dependent diabetes mellitus QTL 694.140.0002blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)1195804352257091168Rat
1578763Kidm29Kidney mass QTL 293.30.0001kidney mass (VT:0002707)both kidneys wet weight (CMO:0000085)1179567751260522016Rat
1600396Niddm68Non-insulin dependent diabetes mellitus QTL 684.970.0003blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)1195804352257091168Rat
1354624Cm35Cardiac mass QTL355.7heart left ventricle mass (VT:0007031)calculated heart weight (CMO:0000073)1177227632256448636Rat
1558658Bw59Body weight QTL 593.50.0003body mass (VT:0001259)body weight (CMO:0000012)1178784622223784622Rat
631838Niddm36Non-insulin dependent diabetes mellitus QTL 360.01insulin secretion trait (VT:0003564)calculated pancreatic islet insulin release measurement (CMO:0001217)1184550676229550676Rat
1549837Hcar15Hepatocarcinoma resistance QTL 150.05liver integrity trait (VT:0010547)liver tumorous lesion number (CMO:0001068)1153136852260522016Rat
2293689Bss47Bone structure and strength QTL 477.250.0001lumbar vertebra size trait (VT:0010518)lumbar vertebra trabecular cross-sectional area (CMO:0001692)1171629477216629477Rat
2293694Bss38Bone structure and strength QTL 387.050.0001femur strength trait (VT:0010010)femur stiffness (CMO:0001674)1201554356246554356Rat
1600388Niddm67Non-insulin dependent diabetes mellitus QTL 675.840.000004blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)1195804352257091168Rat
152025235Bw194Body weight QTL 1944.86body mass (VT:0001259)1123556856242907031Rat
1598853Memor3Memory QTL 34.5exploratory behavior trait (VT:0010471)total horizontal distance resulting from voluntary locomotion in an experimental apparatus (CMO:0001443)1143506580212458660Rat
61341Bp26Blood pressure QTL 26arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1169537671214537671Rat
2293693Bss22Bone structure and strength QTL 2233.520.0001femur morphology trait (VT:0000559)femur cross-sectional area (CMO:0001661)1171629477216629477Rat
1578759Uae30Urinary albumin excretion QTL 303.30.003urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)1150700247252085048Rat
2300161Bmd43Bone mineral density QTL 438.40.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)1171629477216629477Rat
1300145Rf7Renal function QTL 72.96urine creatinine amount (VT:0010540)urine creatinine level (CMO:0000125)1185145134221264292Rat
61347Bp197Blood pressure QTL 1974.2arterial blood pressure trait (VT:2000000)blood pressure measurement (CMO:0000003)1158633083203633083Rat
8655655Arrd2Age-related retinal degeneration QTL 27.79retinal layer morphology trait (VT:0003727)percentage of study population developing retinopathy during a period of time (CMO:0002453)1183970203243914901Rat
1358898Bp255Blood pressure QTL 2553.6arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1191019702246062233Rat
631214Bw61Body weight QTL613.40.0001intramuscular adipose amount (VT:0010044)intramuscular fat area (CMO:0001162)1173108781218108781Rat
7771612Cm80Cardiac mass QTL 808.4heart left ventricle mass (VT:0007031)heart left ventricle weight (CMO:0000776)1149448574221264292Rat
731168Bp154Blood pressure QTL 1543.4arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)194642644214537671Rat
2300175Bmd40Bone mineral density QTL 4015.40.0001femur mineral mass (VT:0010011)bone mineral density (CMO:0001226)1201554356246554356Rat
2300174Bmd42Bone mineral density QTL 428.40.0001lumbar vertebra mineral mass (VT:0010511)bone mineral density (CMO:0001226)1171629477216629477Rat
737828Hcas3Hepatocarcinoma susceptibility QTL 34.9liver integrity trait (VT:0010547)liver tumorous lesion volume to total liver volume ratio (CMO:0001082)1144267353222987745Rat
1354661Bw33Body weight QTL 335.2body mass (VT:0001259)body weight (CMO:0000012)1151162512256448636Rat
737977Bp160Blood pressure QTL 1600.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1181133855226133855Rat
1358886Bp260Blood pressure QTL 2603.67arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1151162766225824951Rat
2293654Bss30Bone structure and strength QTL 3032.650.0001femur strength trait (VT:0010010)femur midshaft polar moment of inertia (CMO:0001669)1171629477216629477Rat
2293655Bss36Bone structure and strength QTL 3610.660.0001femur strength trait (VT:0010010)femur ultimate force (CMO:0001675)1201554356246554356Rat
1298084Thym4Thymus enlargement QTL 410.68thymus mass (VT:0004954)thymus weight to body weight ratio (CMO:0000612)1197814409242814409Rat
724531Uae5Urinary albumin excretion QTL 54urine albumin amount (VT:0002871)urine albumin level (CMO:0000130)1150700142252085212Rat
2300187Bmd41Bone mineral density QTL 418.90.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)1171629477216629477Rat
8552891Epfw5Epididymal fat weight QTL 54.4epididymal fat pad mass (VT:0010421)epididymal fat pad weight to body weight ratio (CMO:0000658)1193113876238113876Rat
1359018Hrtrt20Heart rate QTL 203.08heart pumping trait (VT:2000009)heart rate (CMO:0000002)1185356336202902618Rat
1354580Scort1Serum corticosterone level QTL 13.4blood corticosterone amount (VT:0005345)blood corticosterone level (CMO:0001172)1156677124256448636Rat
634313Niddm43Non-insulin dependent diabetes mellitus QTL 43blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)1199050459259647894Rat
1358292Cm37Cardiac mass QTL 376.28e-07heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)1196248093241248093Rat
61376Bp42Blood pressure QTL 4223.4arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1197814409242814409Rat
634312Bp143Blood pressure QTL 14330.0002arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1182623426219932796Rat
1358294Bw37Body weight QTL 3750.000011body mass (VT:0001259)body weight (CMO:0000012)1171310381216310381Rat
724559Pancm1Pancreatic morphology QTL 17.1islet of Langerhans morphology trait (VT:0005215)pancreatic islet damage composite score (CMO:0001156)1181759564214537555Rat
2312420Pur17Proteinuria QTL 177.10.0001urine protein amount (VT:0005160)urine total protein excretion rate (CMO:0000756)1156677124218753816Rat
10059600Bp378Blood pressure QTL 3783.080.05arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1176869060221869060Rat
7421630Bp362Blood pressure QTL 3620.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1118608292241799120Rat
619613Bp77Blood pressure QTL 770.01arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)1164747424209747424Rat
2312564Glom18Glomerulus QTL 182.40.003kidney glomerulus morphology trait (VT:0005325)index of glomerular damage (CMO:0001135)1185356336231689108Rat
2292218Kidm35Kidney mass QTL 35kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)1199368955224569684Rat
634321Hc1Hypercalciuria QTL 12.91urine calcium amount (VT:0002985)urine calcium excretion rate (CMO:0000763)1178810256240830002Rat
724562Rends1Renal damage susceptibility QTL 10.05kidney glomerulus integrity trait (VT:0010546)index of glomerular damage (CMO:0001135)1169537671214537671Rat
1331790Bp201Blood pressure QTL 2013.127arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1198211513225126682Rat
10059587Bw173Body weight QTL 1733.230.025body mass (VT:0001259)body weight (CMO:0000012)1202069611247069611Rat
2292222Bp307Blood pressure QTL 3073.060.0014arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1164310393213533942Rat
2292220Bp306Blood pressure QTL 3063.470.00087arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1164310393243914901Rat
1641926Teswt2Testicular weight QTL 22.82testis mass (VT:1000644)both testes wet weight (CMO:0000175)1197697768238755659Rat
10059590Kidm44Kidney mass QTL 443.420.025kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)1191033875236033875Rat
631658Cm7Cardiac mass QTL 75.320.0001aorta mass (VT:0002845)aorta weight (CMO:0000076)1196248093241248093Rat
1600380Niddm70Non-insulin dependent diabetes mellitus QTL 703.10.0008blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)1176550523221550523Rat
1582206Kidm33Kidney mass QTL 336.9kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)1188377360224054420Rat
1354610Bw34Body weight QTL 344.1body mass (VT:0001259)body weight (CMO:0000012)1151162512256448636Rat
634338Hcar4Hepatocarcinoma resistance QTL 44.6liver integrity trait (VT:0010547)liver tumorous lesion number to liver area ratio (CMO:0001210)1193422268214537671Rat
8655855Arrd3Age-related retinal degeneration QTL 33.07lens clarity trait (VT:0001304)cataract incidence/prevalence measurement (CMO:0001585)1183970203243914901Rat
1600374Mcs17Mammary carcinoma susceptibility QTL 173mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)1197670404242670404Rat
6903303Scl34Serum cholesterol QTL 342.50.0033blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)1180359209218108781Rat
2293083Iddm25Insulin dependent diabetes mellitus QTL 254.18blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)1181829673224569684Rat
1354606Bp246Blood pressure QTL 2463.6arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)1102813953218753816Rat
738032Hcas5Hepatocarcinoma susceptibility QTL 53.12liver integrity trait (VT:0010547)liver tumorous lesion number (CMO:0001068)1176426412257976495Rat
1358191Ept10Estrogen-induced pituitary tumorigenesis QTL 103.8pituitary gland mass (VT:0010496)pituitary gland wet weight (CMO:0000853)1192825253243914732Rat
7394701Uae46Urinary albumin excretion QTL 463.60.0056urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)1201554356246554356Rat

Markers in Region
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


Expression

RNA-SEQ Expression

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

Sequence


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
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
Ensembl Acc Id: ENSRNOP00000085404   ⟸   ENSRNOT00000097583
Ensembl Acc Id: ENSRNOP00000087914   ⟸   ENSRNOT00000104874
Ensembl Acc Id: ENSRNOP00000087522   ⟸   ENSRNOT00000110110
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-D4A4U2-F1-model_v2 AlphaFold D4A4U2 1-594 view protein structure

Transcriptome

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


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1307581 AgrOrtholog
BioCyc Gene G2FUF-56729 BioCyc
Ensembl Genes ENSRNOG00000019832 Ensembl, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000026915.7 UniProtKB/TrEMBL
  ENSRNOT00000097583.1 UniProtKB/TrEMBL
  ENSRNOT00000104874.1 UniProtKB/TrEMBL
  ENSRNOT00000110110.1 UniProtKB/TrEMBL
  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


Nomenclature History
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