ENSG00000127946


Homo sapiens

Features
Gene ID: ENSG00000127946
  
Biological name :HIP1
  
Synonyms : HIP1 / huntingtin interacting protein 1 / O00291
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q11.23
Gene start: 75533300
Gene end: 75738962
  
Corresponding Affymetrix probe sets: 1560317_s_at (Human Genome U133 Plus 2.0 Array)   205425_at (Human Genome U133 Plus 2.0 Array)   205426_s_at (Human Genome U133 Plus 2.0 Array)   226364_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000484528
Ensembl peptide - ENSP00000336747
Ensembl peptide - ENSP00000410300
Ensembl peptide - ENSP00000414280
NCBI entrez gene - 3092     See in Manteia.
OMIM - 601767
RefSeq - XM_017012099
RefSeq - NM_001243198
RefSeq - NM_005338
RefSeq - XM_005250304
RefSeq - XM_005250305
RefSeq - XM_011516116
RefSeq Peptide - NP_001230127
RefSeq Peptide - NP_005329
swissprot - C9JMG5
swissprot - O00291
Ensembl - ENSG00000127946
  
Related genetic diseases (OMIM): 176807 - {Prostate cancer, progression of}, 176807
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
 hip1ENSDARG00000062972Danio rerio
 HIP1ENSGALG00000040908Gallus gallus
 Hip1ENSMUSG00000039959Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HIP1R / O75146 / huntingtin interacting protein 1 relatedENSG0000013078751
TLN2 / Q9Y4G6 / talin 2ENSG0000017191422
TLN1 / Q9Y490 / talin 1ENSG0000013707622


Protein motifs (from Interpro)
Interpro ID Name
 IPR002558  I/LWEQ domain
 IPR008942  ENTH/VHS
 IPR011417  AP180 N-terminal homology (ANTH) domain
 IPR013809  ENTH domain
 IPR030224  Sla2 family
 IPR030554  Huntingtin-interacting protein 1
 IPR032422  Huntingtin-interacting protein 1, clathrin-binding domain
 IPR035964  I/LWEQ domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0006915 apoptotic process IDA
 biological_processGO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
 biological_processGO:0007010 cytoskeleton organization IEA
 biological_processGO:0030100 regulation of endocytosis NAS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0042981 regulation of apoptotic process IDA
 biological_processGO:0045742 positive regulation of epidermal growth factor receptor signaling pathway IMP
 biological_processGO:0048260 positive regulation of receptor-mediated endocytosis IMP
 biological_processGO:0048268 clathrin coat assembly IDA
 biological_processGO:0050821 protein stabilization IDA
 biological_processGO:0051897 positive regulation of protein kinase B signaling IC
 biological_processGO:0061024 membrane organization TAS
 biological_processGO:0072583 clathrin-dependent endocytosis IEA
 biological_processGO:0097190 apoptotic signaling pathway IDA
 biological_processGO:0099637 neurotransmitter receptor transport TAS
 biological_processGO:2000588 positive regulation of platelet-derived growth factor receptor-beta signaling pathway IMP
 cellular_componentGO:0005634 nucleus TAS
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton TAS
 cellular_componentGO:0012505 endomembrane system IEA
 cellular_componentGO:0016020 membrane TAS
 cellular_componentGO:0030122 AP-2 adaptor complex IDA
 cellular_componentGO:0030136 clathrin-coated vesicle IDA
 cellular_componentGO:0030665 clathrin-coated vesicle membrane IEA
 cellular_componentGO:0031234 extrinsic component of cytoplasmic side of plasma membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0098793 presynapse IDA
 cellular_componentGO:0098794 postsynapse TAS
 cellular_componentGO:0098888 extrinsic component of presynaptic membrane IEA
 cellular_componentGO:0098890 extrinsic component of postsynaptic membrane IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005154 epidermal growth factor receptor binding TAS
 molecular_functionGO:0005200 structural constituent of cytoskeleton TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005543 phospholipid binding IEA
 molecular_functionGO:0030276 clathrin binding IDA
 molecular_functionGO:0032051 clathrin light chain binding IPI
 molecular_functionGO:0032266 phosphatidylinositol-3-phosphate binding IDA
 molecular_functionGO:0035091 phosphatidylinositol binding IDA
 molecular_functionGO:0035254 glutamate receptor binding TAS
 molecular_functionGO:0035612 AP-2 adaptor complex binding IPI
 molecular_functionGO:0035615 clathrin adaptor activity IC
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0043325 phosphatidylinositol-3,4-bisphosphate binding IDA
 molecular_functionGO:0046982 protein heterodimerization activity IPI
 molecular_functionGO:0051015 actin filament binding IDA
 molecular_functionGO:0080025 phosphatidylinositol-3,5-bisphosphate binding IDA


Pathways (from Reactome)
Pathway description
Clathrin-mediated endocytosis


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


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000127946 HIP1 / O00291 / huntingtin interacting protein 1  / complex






 

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