ENSG00000036054


Homo sapiens

Features
Gene ID: ENSG00000036054
  
Biological name :TBC1D23
  
Synonyms : Q9NUY8 / TBC1D23 / TBC1 domain family member 23
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: q12.1
Gene start: 100261000
Gene end: 100325251
  
Corresponding Affymetrix probe sets: 225121_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000340693
Ensembl peptide - ENSP00000418714
Ensembl peptide - ENSP00000418059
Ensembl peptide - ENSP00000417487
Ensembl peptide - ENSP00000377700
NCBI entrez gene - 55773     See in Manteia.
OMIM - 617687
RefSeq - XM_011512974
RefSeq - XM_017006841
RefSeq - XM_017006840
RefSeq - NM_001199198
RefSeq - NM_018309
RefSeq Peptide - NP_001186127
RefSeq Peptide - NP_060779
swissprot - Q9NUY8
swissprot - E9PGE5
swissprot - C9IZ32
swissprot - C9JAM5
Ensembl - ENSG00000036054
  
Related genetic diseases (OMIM): 617695 - Pontocerebellar hypoplasia, type 11, 617695
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
 tbc1d23ENSDARG00000044357Danio rerio
 TBC1D23ENSGALG00000015273Gallus gallus
 Q8K0F1ENSMUSG00000022749Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR000195  Rab-GTPase-TBC domain
 IPR001763  Rhodanese-like domain
 IPR035969  Rab-GTPase-TBC domain superfamily
 IPR036873  Rhodanese-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007420 brain development IMP
 biological_processGO:0016192 vesicle-mediated transport IEA
 biological_processGO:0031175 neuron projection development IEA
 biological_processGO:0032680 regulation of tumor necrosis factor production IEA
 biological_processGO:0032755 positive regulation of interleukin-6 production IEA
 biological_processGO:0042147 retrograde transport, endosome to Golgi IMP
 biological_processGO:0050727 regulation of inflammatory response IEA
 biological_processGO:1990403 embryonic brain development IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005802 trans-Golgi network IDA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0071203 WASH complex IEA
 molecular_functionGO:0005515 protein 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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