ENSG00000136111


Homo sapiens

Features
Gene ID: ENSG00000136111
  
Biological name :TBC1D4
  
Synonyms : O60343 / TBC1D4 / TBC1 domain family member 4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 13
Strand: -1
Band: q22.2
Gene start: 75284665
Gene end: 75482114
  
Corresponding Affymetrix probe sets: 203386_at (Human Genome U133 Plus 2.0 Array)   203387_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000366852
Ensembl peptide - ENSP00000366863
Ensembl peptide - ENSP00000395986
Ensembl peptide - ENSP00000396932
NCBI entrez gene - 9882     See in Manteia.
OMIM - 612465
RefSeq - XM_017020883
RefSeq - NM_001286658
RefSeq - NM_001286659
RefSeq - NM_014832
RefSeq - XM_005266603
RefSeq - XM_005266605
RefSeq - XM_006719903
RefSeq - XM_011535331
RefSeq - XM_017020882
RefSeq Peptide - NP_001273588
RefSeq Peptide - NP_055647
RefSeq Peptide - NP_001273587
swissprot - O60343
swissprot - Q5JU47
Ensembl - ENSG00000136111
  
Related genetic diseases (OMIM): 616087 - {Diabetes mellitus, noninsulin-dependent, 5}, 616087
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tbc1d4ENSDARG00000075156Danio rerio
 TBC1D4ENSGALG00000016925Gallus gallus
 Tbc1d4ENSMUSG00000033083Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q86TI0 / TBC1D1 / TBC1 domain family member 1ENSG0000006588247
Q9Y3P9 / RABGAP1 / RAB GTPase activating protein 1ENSG0000001145417
B7ZAP0 / Q5R372 / RABGAP1L / RAB GTPase activating protein 1 likeENSG0000015206115
EVI5L / Q96CN4 / ecotropic viral integration site 5 likeENSG0000014245910
Q9P2M4 / TBC1D14 / TBC1 domain family member 14ENSG0000013240510
EVI5 / O60447 / ecotropic viral integration site 5ENSG0000006720810
O60347 / TBC1D12 / TBC1 domain family member 12ENSG000001082399


Protein motifs (from Interpro)
Interpro ID Name
 IPR000195  Rab-GTPase-TBC domain
 IPR006020  PTB/PI domain
 IPR011993  PH-like domain superfamily
 IPR021785  Domain of unknown function DUF3350
 IPR033564  TBC1 domain family member 4
 IPR035969  Rab-GTPase-TBC domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006886 intracellular protein transport IBA
 biological_processGO:0016192 vesicle-mediated transport IMP
 biological_processGO:0031338 regulation of vesicle fusion IBA
 biological_processGO:0031339 negative regulation of vesicle fusion IEA
 biological_processGO:0032869 cellular response to insulin stimulus IMP
 biological_processGO:0061024 membrane organization TAS
 biological_processGO:0090630 activation of GTPase activity IBA
 cellular_componentGO:0005622 intracellular IBA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0012505 endomembrane system IBA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane TAS
 cellular_componentGO:0031982 vesicle IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005096 GTPase activator activity IBA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0017137 Rab GTPase binding IBA


Pathways (from Reactome)
Pathway description
Translocation of SLC2A4 (GLUT4) to the plasma membrane


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000113441 LNPEP / Q9UIQ6 / leucyl and cystinyl aminopeptidase  / complex






 

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