ENSG00000145979


Homo sapiens

Features
Gene ID: ENSG00000145979
  
Biological name :TBC1D7
  
Synonyms : Q9P0N9 / TBC1D7 / TBC1 domain family member 7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: p24.1
Gene start: 13266542
Gene end: 13328583
  
Corresponding Affymetrix probe sets: 1563839_at (Human Genome U133 Plus 2.0 Array)   223461_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000475469
Ensembl peptide - ENSP00000475191
Ensembl peptide - ENSP00000475355
Ensembl peptide - ENSP00000475727
Ensembl peptide - ENSP00000476109
Ensembl peptide - ENSP00000475795
Ensembl peptide - ENSP00000343100
Ensembl peptide - ENSP00000348813
Ensembl peptide - ENSP00000368593
Ensembl peptide - ENSP00000368602
Ensembl peptide - ENSP00000368609
Ensembl peptide - ENSP00000394425
Ensembl peptide - ENSP00000401339
Ensembl peptide - ENSP00000401438
Ensembl peptide - ENSP00000404680
Ensembl peptide - ENSP00000412102
Ensembl peptide - ENSP00000414101
Ensembl peptide - ENSP00000414292
Ensembl peptide - ENSP00000417005
NCBI entrez gene - 51256     See in Manteia.
NCBI entrez gene - 107080638     See in Manteia.
OMIM - 612655
RefSeq - NM_001143966
RefSeq - NM_001143964
RefSeq - NM_001143965
RefSeq - NM_001258457
RefSeq - NM_001318805
RefSeq - NM_001318806
RefSeq - NM_001318809
RefSeq - NM_016495
RefSeq Peptide - NP_001305735
RefSeq Peptide - NP_001305738
RefSeq Peptide - NP_057579
RefSeq Peptide - NP_001137436
RefSeq Peptide - NP_001137437
RefSeq Peptide - NP_001137438
RefSeq Peptide - NP_001245386
RefSeq Peptide - NP_001305734
swissprot - Q5SZM1
swissprot - B4DK47
swissprot - A0A024R011
swissprot - Q5SZM2
swissprot - Q9P0N9
swissprot - A0A024QZX0
swissprot - U3KPS8
swissprot - U3KQ23
swissprot - U3KPY5
swissprot - U3KQD8
swissprot - U3KQQ0
swissprot - Q5SZL3
swissprot - Q5SZL4
swissprot - Q5SZL5
swissprot - Q5SZL6
swissprot - Q5SZL8
Ensembl - ENSG00000145979
  
Related genetic diseases (OMIM): 248000 - Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000
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
 F1QRX7ENSDARG00000029581Danio rerio
 TBC1D7ENSGALG00000012731Gallus gallus
 Q9D0K0ENSMUSG00000021368Mus musculus


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:0031398 positive regulation of protein ubiquitination IDA
 biological_processGO:0032007 negative regulation of TOR signaling IMP
 biological_processGO:0043547 positive regulation of GTPase activity IDA
 biological_processGO:0070848 response to growth factor IMP
 biological_processGO:0090630 activation of GTPase activity IMP
 biological_processGO:1902018 negative regulation of cilium assembly IMP
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0036064 ciliary basal body IDA
 molecular_functionGO:0005096 GTPase activator activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017137 Rab GTPase binding IPI


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
 ENSG00000103197 TSC2 / P49815 / TSC complex subunit 2  / complex / reaction
 ENSG00000165699 TSC1 / Q92574 / TSC complex subunit 1  / reaction / complex






 

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