ENSG00000111490


Homo sapiens

Features
Gene ID: ENSG00000111490
  
Biological name :TBC1D30
  
Synonyms : Q9Y2I9 / TBC1D30 / TBC1 domain family member 30
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q14.3
Gene start: 64781193
Gene end: 64881032
  
Corresponding Affymetrix probe sets: 213912_at (Human Genome U133 Plus 2.0 Array)   213913_s_at (Human Genome U133 Plus 2.0 Array)   215186_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000440207
Ensembl peptide - ENSP00000440787
Ensembl peptide - ENSP00000442442
Ensembl peptide - ENSP00000439897
Ensembl peptide - ENSP00000440640
NCBI entrez gene - 23329     See in Manteia.
OMIM - 615077
RefSeq - XM_017019087
RefSeq - NM_001330187
RefSeq - NM_001330188
RefSeq - NM_015279
RefSeq - XM_011538078
RefSeq - XM_017019083
RefSeq - XM_017019084
RefSeq - XM_017019085
RefSeq - XM_017019086
RefSeq Peptide - NP_056094
RefSeq Peptide - NP_001317116
RefSeq Peptide - NP_001317117
swissprot - F5H0E8
swissprot - F5GY74
swissprot - Q9Y2I9
swissprot - F5H7L7
swissprot - F8VZ81
Ensembl - ENSG00000111490
  
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
 tbc1d30ENSDARG00000075281Danio rerio
 TBC1D30ENSGALG00000009859Gallus gallus
 Q69ZT9ENSMUSG00000052302Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q66K14 / TBC1D9B / TBC1 domain family member 9BENSG0000019722619
Q6ZT07 / TBC1D9 / TBC1 domain family member 9ENSG0000010943616
O95759 / TBC1D8 / TBC1 domain family member 8ENSG0000020463416
SGSM3 / Q96HU1 / small G protein signaling modulator 3ENSG0000010035915
Q0IIM8 / TBC1D8B / TBC1 domain family member 8BENSG0000013313815
Q9BYX2 / TBC1D2 / TBC1 domain family member 2ENSG0000009538312
Q9UPU7 / TBC1D2B / TBC1 domain family member 2BENSG0000016720211


Protein motifs (from Interpro)
Interpro ID Name
 IPR000195  Rab-GTPase-TBC domain
 IPR032738  TBC1 domain family member 30, C-terminal
 IPR035969  Rab-GTPase-TBC domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006886 intracellular protein transport IBA
 biological_processGO:0031338 regulation of vesicle fusion IBA
 biological_processGO:0043547 positive regulation of GTPase activity IDA
 biological_processGO:0090630 activation of GTPase activity IBA
 biological_processGO:1902018 negative regulation of cilium assembly IMP
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005929 cilium IDA
 cellular_componentGO:0012505 endomembrane system IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0036064 ciliary basal body IDA
 molecular_functionGO:0005096 GTPase activator activity IDA
 molecular_functionGO:0017137 Rab GTPase binding IPI


Pathways (from Reactome)
Pathway description
No match


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


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






 

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