ENSG00000104946


Homo sapiens

Features
Gene ID: ENSG00000104946
  
Biological name :TBC1D17
  
Synonyms : Q9HA65 / TBC1D17 / TBC1 domain family member 17
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.33
Gene start: 49877425
Gene end: 49888749
  
Corresponding Affymetrix probe sets: 218466_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000472647
Ensembl peptide - ENSP00000469747
Ensembl peptide - ENSP00000481003
Ensembl peptide - ENSP00000221543
Ensembl peptide - ENSP00000446323
Ensembl peptide - ENSP00000469010
NCBI entrez gene - 79735     See in Manteia.
OMIM - 616659
RefSeq - XM_011527317
RefSeq - NM_001168222
RefSeq - NM_024682
RefSeq Peptide - NP_001161694
RefSeq Peptide - NP_078958
swissprot - A0A087WXG5
swissprot - M0R2L2
swissprot - M0QYC9
swissprot - M0QXA2
swissprot - Q9HA65
Ensembl - ENSG00000104946
  
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
 tbc1d17ENSDARG00000005927Danio rerio
 Q8BYH7ENSMUSG00000038520Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8TC07 / TBC1D15 / TBC1 domain family member 15ENSG0000012174948
Q3MII6 / TBC1D25 / TBC1 domain family member 25ENSG0000006835424
Q8TBP0 / TBC1D16 / TBC1 domain family member 16ENSG0000016729124
SGSM2 / O43147 / small G protein signaling modulator 2ENSG0000014125822
SGSM1 / Q2NKQ1 / small G protein signaling modulator 1ENSG0000016703722


Protein motifs (from Interpro)
Interpro ID Name
 IPR000195  Rab-GTPase-TBC domain
 IPR021935  Domain of unknown function DUF3548
 IPR035969  Rab-GTPase-TBC domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006886 intracellular protein transport IBA
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0031338 regulation of vesicle fusion IBA
 biological_processGO:0042147 retrograde transport, endosome to Golgi IMP
 biological_processGO:0090630 activation of GTPase activity IBA
 cellular_componentGO:0005776 autophagosome IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0012505 endomembrane system IBA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0055037 recycling endosome TAS
 molecular_functionGO:0005096 GTPase activator activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017137 Rab GTPase binding IBA


Pathways (from Reactome)
Pathway description
TBC/RABGAPs


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


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000123240 OPTN / Q96CV9 / optineurin  / reaction / complex
 ENSG00000167461 RAB8A / P61006 / RAB8A, member RAS oncogene family  / reaction / complex
 ENSG00000166128 RAB8B / Q92930 / RAB8B, member RAS oncogene family  / reaction / complex






 

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