ENSMUSG00000035759


Mus musculus

Features
Gene ID: ENSMUSG00000035759
  
Biological name :Bbs10
  
Synonyms : Bardet-Biedl syndrome 10 protein homolog / Bbs10 / Q9DBI2
  
Possible biological names infered from orthology : Bardet-Biedl syndrome 10 / Q8TAM1
  
Species: Mus musculus
  
Chr. number: 10
Strand: 1
Band: D1
Gene start: 111298679
Gene end: 111301727
  
Corresponding Affymetrix probe sets: 10366335 (MoGene1.0st)   1430170_at (Mouse Genome 430 2.0 Array)   1440787_s_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000049387
NCBI entrez gene - 71769     See in Manteia.
MGI - MGI:1919019
RefSeq - NM_027914
RefSeq Peptide - NP_082190
swissprot - Q9DBI2
Ensembl - ENSMUSG00000035759
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bbs10ENSDARG00000069515Danio rerio
 BBS10ENSGALG00000033769Gallus gallus
 BBS10ENSG00000179941Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR002423  Chaperonin Cpn60/TCP-1 family
 IPR027413  GroEL-like equatorial domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001895 retina homeostasis IEA
 biological_processGO:0043254 regulation of protein complex assembly IEA
 biological_processGO:0045494 photoreceptor cell maintenance IEA
 biological_processGO:0051131 chaperone-mediated protein complex assembly IEA
 biological_processGO:1905515 non-motile cilium assembly IEA
 cellular_componentGO:0005575 cellular_component ND
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0001103 RNA polymerase II repressing transcription factor binding IEA
 molecular_functionGO:0005524 ATP binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
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Allelic Composition: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 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]
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Allelic Composition: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 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]
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Allelic Composition: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 MP:0001433 polyphagia "eating to excess" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 MP:0001762 polyuria "increased volume of urine produced and excreted" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 MP:0002959 increased microalbumin excretion "greater than the normal amount of fragments of this protein voided by the kidneys" [RGD:Rat Genome Database submission]
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Allelic Composition: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 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]
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Allelic Composition: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 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: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 MP:0005291 abnormal glucose tolerance "deviation from the normal response to oral consumption or intravenous injection of specified amounts of glucose; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 MP:0005610 increased circulating antidiuretic hormone level "greater than the normal concentration of this peptide hormone in the blood; it is normally released by the neurohypophysis to control water metabolism and balance by regulating water loss; it also contracts smooth muscle" [RGD:Rat Genome Database submission, MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 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: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 MP:0006072 abnormal retinal apoptosis "increase or decrease in the number of cells in the retina undergoing programmed cell death" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92622:]
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Allelic Composition: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 MP:0008138 absent podocyte foot process "absence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 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"]
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Allelic Composition: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 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: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 MP:0008584 photoreceptor outer segment degeneration "retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 MP:0009640 abnormal renal tubule epithelium morphology "any structural anomaly of the cellular avascular layer of the renal tubule luminar surfaces" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0011431 increased urine flow rate "increased volume of urine produced in a specified period of time" [MGI:anna]
Show

Allelic Composition: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 MP:0011859 decreased renal glomerulus basement membrane thickness "reduced width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule" [MGI:anna]
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Allelic Composition: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

 MP:0011965 decreased total retina thickness "decreased width of the retina through the center plane" [MGI:csmith]
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Allelic Composition: Smad4tm1.1Gsu/Smad4tm1.1Gsu,Ptf1atm1.1(cre)Cvw/Ptf1a+,Tg(MtTGFA)Lmb/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

  


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






 

0 s.

 
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