ENSG00000171853


Homo sapiens

Features
Gene ID: ENSG00000171853
  
Biological name :TRAPPC12
  
Synonyms : Q8WVT3 / trafficking protein particle complex 12 / TRAPPC12
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: p25.3
Gene start: 3379675
Gene end: 3485094
  
Corresponding Affymetrix probe sets: 203122_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000409960
Ensembl peptide - ENSP00000405626
Ensembl peptide - ENSP00000406497
Ensembl peptide - ENSP00000324318
Ensembl peptide - ENSP00000371544
Ensembl peptide - ENSP00000395420
Ensembl peptide - ENSP00000396407
Ensembl peptide - ENSP00000396592
Ensembl peptide - ENSP00000399010
Ensembl peptide - ENSP00000399909
Ensembl peptide - ENSP00000401013
NCBI entrez gene - 51112     See in Manteia.
OMIM - 614139
RefSeq - XM_017004257
RefSeq - NM_001321102
RefSeq - NM_016030
RefSeq - XM_011510350
RefSeq - XM_011510352
RefSeq - XM_011510355
RefSeq - XM_011510356
RefSeq Peptide - NP_001308031
RefSeq Peptide - NP_057114
swissprot - Q8WVT3
swissprot - F8WCB4
swissprot - H0Y550
swissprot - H7C0K3
swissprot - H7C0T3
swissprot - H7C185
swissprot - H7C1E5
swissprot - H7C2F7
swissprot - H7C1M4
swissprot - H7C373
Ensembl - ENSG00000171853
  
Related genetic diseases (OMIM): 617669 - Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669
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
 trappc12ENSDARG00000060101Danio rerio
 TRAPPC12ENSGALG00000016387Gallus gallus
 Q8K2L8ENSMUSG00000020628Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR011990  Tetratricopeptide-like helical domain superfamily
 IPR013026  Tetratricopeptide repeat-containing domain
 IPR019734  Tetratricopeptide repeat


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport IMP
 biological_processGO:0007030 Golgi organization IMP
 biological_processGO:0016192 vesicle-mediated transport IEA
 biological_processGO:0051259 protein complex oligomerization IDA
 biological_processGO:0051310 metaphase plate congression IMP
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:0090234 regulation of kinetochore assembly IMP
 biological_processGO:1905342 positive regulation of protein localization to kinetochore IMP
 cellular_componentGO:0000776 kinetochore IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005793 endoplasmic reticulum-Golgi intermediate compartment IMP
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0030008 TRAPP complex IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IMP
 molecular_functionGO:0004175 endopeptidase activity IBA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0017112 Rab guanyl-nucleotide exchange factor activity TAS


Pathways (from Reactome)
Pathway description
RAB GEFs exchange GTP for GDP on RABs


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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