ENSG00000173805


Homo sapiens

Features
Gene ID: ENSG00000173805
  
Biological name :HAP1
  
Synonyms : HAP1 / huntingtin associated protein 1 / P54257
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: q21.2
Gene start: 41717742
Gene end: 41734644
  
Corresponding Affymetrix probe sets: 211222_s_at (Human Genome U133 Plus 2.0 Array)   211604_x_at (Human Genome U133 Plus 2.0 Array)   238275_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000404640
Ensembl peptide - ENSP00000334002
Ensembl peptide - ENSP00000309392
Ensembl peptide - ENSP00000388981
Ensembl peptide - ENSP00000397242
Ensembl peptide - ENSP00000343170
Ensembl peptide - ENSP00000377513
NCBI entrez gene - 9001     See in Manteia.
OMIM - 600947
RefSeq - NM_177977
RefSeq - NM_001079870
RefSeq - NM_001079871
RefSeq Peptide - NP_001073339
RefSeq Peptide - NP_817084
RefSeq Peptide - NP_001073340
swissprot - P54257
swissprot - H7BZC9
swissprot - H7C0W9
swissprot - H7C295
Ensembl - ENSG00000173805
  
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
 Hap1ENSMUSG00000006930Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TRAK1 / Q9UPV9 / trafficking kinesin protein 1ENSG0000018260622
TRAK2 / O60296 / trafficking kinesin protein 2ENSG0000011599321


Protein motifs (from Interpro)
Interpro ID Name
 IPR006933  HAP1, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006887 exocytosis IEA
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0007268 chemical synaptic transmission TAS
 biological_processGO:0007420 brain development NAS
 biological_processGO:0008089 anterograde axonal transport ISS
 biological_processGO:0008090 retrograde axonal transport ISS
 biological_processGO:0008104 protein localization IMP
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0017157 regulation of exocytosis ISS
 biological_processGO:0021549 cerebellum development IEA
 biological_processGO:0021979 hypothalamus cell differentiation IEA
 biological_processGO:0022008 neurogenesis IEA
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0031587 positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ISS
 biological_processGO:0032230 positive regulation of synaptic transmission, GABAergic ISS
 biological_processGO:0032901 positive regulation of neurotrophin production ISS
 biological_processGO:0045742 positive regulation of epidermal growth factor receptor signaling pathway ISS
 biological_processGO:0047496 vesicle transport along microtubule IEA
 biological_processGO:0048011 neurotrophin TRK receptor signaling pathway ISS
 biological_processGO:0050769 positive regulation of neurogenesis IEA
 biological_processGO:1902430 negative regulation of amyloid-beta formation ISS
 biological_processGO:1902513 regulation of organelle transport along microtubule ISS
 biological_processGO:1902857 positive regulation of non-motile cilium assembly ISS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005776 autophagosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005814 centriole IEA
 cellular_componentGO:0005856 cytoskeleton TAS
 cellular_componentGO:0008021 synaptic vesicle IEA
 cellular_componentGO:0015629 actin cytoskeleton TAS
 cellular_componentGO:0016234 inclusion body IDA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:1904115 axon cytoplasm IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0044325 ion channel binding ISS
 molecular_functionGO:0048403 brain-derived neurotrophic factor binding ISS


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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