ENSMUSG00000027465


Mus musculus

Features
Gene ID: ENSMUSG00000027465
  
Biological name :Tbc1d20
  
Synonyms : Q9D9I4 / Tbc1d20 / TBC1 domain family member 20
  
Possible biological names infered from orthology : Q96BZ9
  
Species: Mus musculus
  
Chr. number: 2
Strand: 1
Band: G3
Gene start: 152293828
Gene end: 152313996
  
Corresponding Affymetrix probe sets: 10477090 (MoGene1.0st)   1426644_at (Mouse Genome 430 2.0 Array)   1447688_at (Mouse Genome 430 2.0 Array)   1452140_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000028963
Ensembl peptide - ENSMUSP00000122542
Ensembl peptide - ENSMUSP00000119209
NCBI entrez gene - 67231     See in Manteia.
MGI - MGI:1914481
RefSeq - NM_024196
RefSeq Peptide - NP_077158
swissprot - B0R080
swissprot - B0R081
swissprot - Q0P648
swissprot - Q9D9I4
Ensembl - ENSMUSG00000027465
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tbc1d20ENSDARG00000032298Danio rerio
 TBC1D20ENSGALG00000006201Gallus gallus
 Q96BZ9ENSG00000125875Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR000195  Rab-GTPase-TBC domain
 IPR035969  Rab-GTPase-TBC domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001675 acrosome assembly IMP
 biological_processGO:0002088 lens development in camera-type eye IMP
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport IEA
 biological_processGO:0007030 Golgi organization IEA
 biological_processGO:0007283 spermatogenesis IMP
 biological_processGO:0008584 male gonad development IMP
 biological_processGO:0019068 virion assembly IEA
 biological_processGO:0034389 lipid particle organization IMP
 biological_processGO:0043010 camera-type eye development IMP
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:0044829 positive regulation by host of viral genome replication IEA
 biological_processGO:0046726 positive regulation by virus of viral protein levels in host cell ISO
 biological_processGO:0070309 lens fiber cell morphogenesis IMP
 biological_processGO:0072520 seminiferous tubule development IMP
 biological_processGO:0090110 cargo loading into COPII-coated vesicle IEA
 biological_processGO:1902953 positive regulation of ER to Golgi vesicle-mediated transport IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030173 integral component of Golgi membrane IEA
 cellular_componentGO:0031965 nuclear membrane IEA
 molecular_functionGO:0005096 GTPase activator activity IBA
 molecular_functionGO:0017137 Rab GTPase binding IEA


Pathways (from Reactome)
Pathway description
COPII-mediated vesicle transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000358 abnormal cell content/ morphology "structural anomalies of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: PhexHyp/PhexHyp
Genetic Background: B6.Cg-PhexHyp/J

 MP:0000411 shiny fur "fur with a glossy or glistening appearance" [J:45065]
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Allelic Composition: Gdf5brp/Gdf5brp
Genetic Background: NC

 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
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Allelic Composition: Gdf5brp/Gdf5brp
Genetic Background: NC

Allelic Composition: Tbc1d20bs/Tbc1d20bs
Genetic Background: 129S;AKR-Tbc1d20bs/J

 MP:0001155 arrest of spermatogenesis "block of the process by which spermatogonial stem cells divide and differentiate into spermatozoa" [J:62271]
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Allelic Composition: Gdf5brp/Gdf5brp
Genetic Background: NC

Allelic Composition: Tbc1d20bs/Tbc1d20bs
Genetic Background: 129S;AKR-Tbc1d20bs/J

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
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Allelic Composition: Gdf5brp/Gdf5brp
Genetic Background: NC

 MP:0001303 abnormal lens morphology "malformed transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]
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Allelic Composition: PhexHyp/PhexHyp
Genetic Background: B6.Cg-PhexHyp/J

 MP:0001304 cataracts "complete or partial opacity of the lens" [J:65031]
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Allelic Composition: Gdf5brp/Gdf5brp
Genetic Background: NC

Allelic Composition: Tbc1d20bs/Tbc1d20bs
Genetic Background: 129S;AKR-Tbc1d20bs/J

 MP:0001306 small lens "reduced size of the transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Tbc1d20bs/Tbc1d20bs
Genetic Background: 129S;AKR-Tbc1d20bs/J

 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: Gdf5brp/Gdf5brp
Genetic Background: NC

 MP:0001932 abnormal spermiogenesis "failure of sperm cells to form or differentiate" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gdf5brp/Gdf5brp
Genetic Background: NC

 MP:0002675 asthenozoospermia "loss or reduction of the mobility of the spermatozoa, frequently associated with infertility" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Gdf5brp/Gdf5brp
Genetic Background: NC

 MP:0002687 oligozoospermia "reduced concentration of spermatozoa " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312]
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Allelic Composition: Gdf5brp/Gdf5brp
Genetic Background: NC

 MP:0002840 abnormal lens fibers morphology "structural anomaly of the elongated cells of the crystalline lens of the eye" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Tbc1d20bs/Tbc1d20bs
Genetic Background: 129S;AKR-Tbc1d20bs/J

 MP:0004852 decreased testis weight "reduced average weight of the male reproductive glands" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gdf5brp/Gdf5brp
Genetic Background: NC

 MP:0004901 decreased male germ cell number "reduced numbers of male germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Tbc1d20bs/Tbc1d20bs
Genetic Background: 129S;AKR-Tbc1d20bs/J

 MP:0005578 teratozoospermia "presence of malformed spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator]
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Allelic Composition: Gdf5brp/Gdf5brp
Genetic Background: NC

 MP:0006362 abnormal male germ cell morphology "any structural anomaly of male germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Gdf5brp/Gdf5brp
Genetic Background: NC

 MP:0008839 absent acrosome "mature spermatozoa lack the cap-like structure at the anterior end of the sperm head that produces enzymes needed for egg penetration" [MESH:A05.360.490.890.820.100, MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Gdf5brp/Gdf5brp
Genetic Background: NC

Allelic Composition: Tbc1d20bs/Tbc1d20bs
Genetic Background: 129S;AKR-Tbc1d20bs/J

 MP:0008841 ruptured lens capsule "a break or tear in the elastic, clear, membrane-like structure, that is outer most layer of the lens" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Tbc1d20bs/Tbc1d20bs
Genetic Background: 129S;AKR-Tbc1d20bs/J

 MP:0009230 abnormal sperm head morphology "any structural abnormality of the head segment of the sperm cell which contains the nucleus with densely coiled chromatin fibers, and is surrounded anteriorly by the acrosome which contains enzymes used for penetrating the female egg" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Gdf5brp/Gdf5brp
Genetic Background: NC

 MP:0011743 abnormal Golgi apparatus morphology "any structural anomaly of the compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack; Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations" [GO:0005794, MGI:mberry]
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Allelic Composition: Tbc1d20bs/Tbc1d20bs
Genetic Background: 129S;AKR-Tbc1d20bs/J

 MP:0011750 abnormal seminiferous tubule epithelium morphology "any structural anomaly of the stratified epithelial lining of the seminiferous tubules, consisting of the developing spermatozoa and the supporting Sertoli cells, which are tall, columnar type cells that line the tubule" [MGI:csmith]
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Allelic Composition: Tbc1d20bs/Tbc1d20bs
Genetic Background: 129S;AKR-Tbc1d20bs/J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000024870 Rab1b / Q9D1G1 / RAB1B, member RAS oncogene family / Q9H0U4*  / complex / reaction






 

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