ENSMUSG00000006464


Mus musculus

Features
Gene ID: ENSMUSG00000006464
  
Biological name :Bbs1
  
Synonyms : Bardet-Biedl syndrome 1 protein homolog / Bbs1 / Q3V3N7
  
Possible biological names infered from orthology : AP002748.4 / Bardet-Biedl syndrome 1 / Q8NFJ9
  
Species: Mus musculus
  
Chr. number: 19
Strand: -1
Band: A
Gene start: 4886898
Gene end: 4906627
  
Corresponding Affymetrix probe sets: 10464858 (MoGene1.0st)   1437310_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000055321
NCBI entrez gene - 52028     See in Manteia.
MGI - MGI:1277215
RefSeq - NM_001033128
RefSeq - XM_006531788
RefSeq Peptide - NP_001028300
swissprot - Q3V3N7
Ensembl - ENSMUSG00000006464
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bbs1ENSDARG00000075169Danio rerio
 AP002748.4ENSG00000256349Homo sapiens
 BBS1ENSG00000174483Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR011047  Quinoprotein alcohol dehydrogenase-like superfamily
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR028784  Bardet-Biedl syndrome 1 protein
 IPR032728  Bardet-Biedl syndrome 1, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000226 microtubule cytoskeleton organization IMP
 biological_processGO:0001764 neuron migration IMP
 biological_processGO:0001895 retina homeostasis ISO
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0007608 sensory perception of smell IMP
 biological_processGO:0008104 protein localization IMP
 biological_processGO:0008594 photoreceptor cell morphogenesis IMP
 biological_processGO:0009566 fertilization IMP
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016358 dendrite development IMP
 biological_processGO:0021591 ventricular system development IMP
 biological_processGO:0021756 striatum development IMP
 biological_processGO:0021766 hippocampus development IMP
 biological_processGO:0021987 cerebral cortex development IMP
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0030534 adult behavior IMP
 biological_processGO:0035721 intraciliary retrograde transport ISO
 biological_processGO:0042048 olfactory behavior IMP
 biological_processGO:0042445 hormone metabolic process IMP
 biological_processGO:0043001 Golgi to plasma membrane protein transport ISO
 biological_processGO:0044255 cellular lipid metabolic process IMP
 biological_processGO:0045444 fat cell differentiation IEP
 biological_processGO:0045494 photoreceptor cell maintenance ISO
 biological_processGO:0048854 brain morphogenesis IMP
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0051216 cartilage development IMP
 biological_processGO:0060271 cilium assembly ISO
 biological_processGO:0060296 regulation of cilium beat frequency involved in ciliary motility IMP
 biological_processGO:0061351 neural precursor cell proliferation IMP
 biological_processGO:0061512 protein localization to cilium IBA
 biological_processGO:1905515 non-motile cilium assembly ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome ISO
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0005930 axoneme IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031514 motile cilium IMP
 cellular_componentGO:0034464 BBSome ISO
 cellular_componentGO:0036064 ciliary basal body IBA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0060170 ciliary membrane IEA
 molecular_functionGO:0001103 RNA polymerase II repressing transcription factor binding ISO
 molecular_functionGO:0005102 signaling receptor binding IPI
 molecular_functionGO:0005113 patched binding IBA
 molecular_functionGO:0005119 smoothened binding IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0051219 phosphoprotein binding IPI


Pathways (from Reactome)
Pathway description
BBSome-mediated cargo-targeting to cilium


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000005 increased brown fat amount "increased amount of thermogenic tissue in the body that is composed of cells containing multiple small fat droplets" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:14208]
Show

Allelic Composition: Bcl11btm1Avram/Bcl11btm1Avram,Tg(Cd4-cre)1Cwi/?,Tg(LCKprBCL2)36Sjk/?
Genetic Background: involves: 129 * C57BL/6 * DBA/2

 MP:0000825 dilated lateral ventricles "increase over the normal size of the horseshoe-shaped cavities of the cerebrum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:38857]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001004 abnormal photoreceptor morphology "structural or developmental anomaly of the receptors sensitive to light " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001261 obese "excessively fat; an increase in fat in the subcutaneous connective tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gng3tm1.1Rbs/Gng3tm1.1Rbs
Genetic Background: involves: C57BL/6J * FVB/N

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Gng3tm1.1Rbs/Gng3tm1.1Rbs
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001891 hydroencephaly "excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Bbs1tm2Vcs/Bbs1tm2Vcs,Tg(Pdgfra-cre)1Clc/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002626 increased heart rate "greater than average resting heart beats per minute" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003203 increased neuron apoptosis "increase in the number of neurons undergoing programmed cell death" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Bbs1tm2Vcs/Bbs1tm2Vcs,Tg(Pdgfra-cre)1Clc/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0003729 abnormal photoreceptor outer segments "malformation/anomalous structure of the photoreceptor layer which contains stacks of membranous discs that are rich in the visual pigment rhodopsin " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003863 decreased aggression towards mice "when compared to controls, subjects exhibit less than normal level of domineering, assaultive posture and/or hostile physical action towards other mice" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004021 abnormal rod electrophysiology "anomaly in the function of dark adapted vision mediated by the rods" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004022 abnormal cone electrophysiology "anomaly in the function of light adapted vision mediated by the cones" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004491 abnormal orientation of outer hair cell stereociliary bundles "misorientation or rotation of outer hair cell (OHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium " [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Vangl2Lp/Vangl2+,MkksGt(OST367255)Lex/Mkks+
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J * LPT/LeJ

Allelic Composition: Bbs1Gt1Nk/Bbs1+,Vangl2Lp/Vangl2+
Genetic Background: involves: 129S7/SvEvBrd * LPT/LeJ

 MP:0004527 abnormal outer hair cell stereociliary bundle morphology "any structural anomaly or disruption of the typical V or W-like pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear OHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest (outermost) row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vangl2Lp/Vangl2+,MkksGt(OST367255)Lex/Mkks+
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J * LPT/LeJ

Allelic Composition: Bbs1Gt1Nk/Bbs1+,Vangl2Lp/Vangl2+
Genetic Background: involves: 129S7/SvEvBrd * LPT/LeJ

 MP:0004948 abnormal neuronal precursor proliferation "any anomaly in the ability of a neuroblast population to undergo rapid expansion by cell division" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005334 abnormal fat pad "malformed or aberrant size of the encapsulated adipose tissue" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005551 abnormal eye electrophysiology "abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005669 increased circulating leptin level "greater than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, J:34751]
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Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0006092 abnormal olfactory neuron morphology "malformation in the neurons that are activated by specific odorants" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92950]
Show

Allelic Composition: Gng3tm1.1Rbs/Gng3tm1.1Rbs
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0006254 thin cerebral cortex "decreased depth of the mantle covering the surface of the cerebral hemispheres" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:84683]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008283 small hippocampus "reduced size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation" [ISBN:0-12-402035-6 "Kaufman, MH The Atlas of Mouse Development", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008518 retinal outer nuclear layer degeneration "a retrogressive impairment or destruction of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008535 enlarged lateral ventricles "increased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MESH:A08.186.211.276.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008536 enlarged third ventricle "increased size of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina" [MESH:A08.186.211.276.840, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008544 impaired olfaction "reduced ability to detect odors" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008545 absent sperm flagella "mature spermatozoa lack a flagella" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008580 photoreceptor inner segment degeneration "retrogressive pathologic change in the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008581 disorganized photoreceptor inner segment "derangement of the pattern of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008586 disorganized photoreceptor outer segment "derangement of the pattern of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Gng3tm1.1Rbs/Gng3tm1.1Rbs
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0010024 increased total body fat amount "greater than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011059 abnormal ependyma motile cilium morphology "any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain and the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid around the central nervous system" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011108 partial embryonic lethality during organogenesis "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Gng3tm1.1Rbs/Gng3tm1.1Rbs
Genetic Background: involves: C57BL/6J * FVB/N

Allelic Composition: Bbs1Gt1Nk/Bbs1+,Vangl2Lp/Vangl2+
Genetic Background: involves: 129S7/SvEvBrd * LPT/LeJ

 MP:0011281 abnormal olfactory epithelium cilium morphology "any structural anomaly of the cilia of the epithelial cells that line the interior of the nose" [MGI:smb]
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Allelic Composition: Gng3tm1.1Rbs/Gng3tm1.1Rbs
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0011939 increased food intake "increase in the total number of calories/food amount taken in over time when compared to the normal state" [MGI:csmith]
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Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0012468 decreased striatum area "reduced size of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking" [ISBN:0838580343, MGI:csmith]
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Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0012676 dilated brain ventricles "the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid" [MGI:anna]
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Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0020394 decreased neuronal precursor proliferation "reduction in the ability of a neuroblast population to undergo rapid expansion by cell division" [MGI:anna]
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Allelic Composition: Bbs1tm2Vcs/Bbs1tm2Vcs,Tg(Pdgfra-cre)1Clc/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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