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FLASH GENE
Symbol HIP1 contributors: mct - updated : 27-04-2012
HGNC name huntingtin interacting protein 1
HGNC id 4913
Corresponding disease
DEL7Q1123 chromosome 7q11.23 microdeletion, distally adjacent to WBS common deletion
Location 7q11.23      Physical location : 75.163.408 - 75.368.279
Synonym symbol(s) ILWEQ, MGC126506
DNA
TYPE functioning gene
STRUCTURE 204.00 kb     31 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site
text structure a clathrin-box and AP2 consensus-binding sites that display high affinity binding to the terminal domain of the clathrin heavy chain and the ear domain of the AP2 alpha subunit, respectively
MAPPING cloned Y linked N status confirmed
Physical map
GTF2IRD1 7q11.23 GTF2I repeat domain containing 1 LOC389521 7 LOC389521 WBSCR23 7q11.23 Williams-Beuren syndrome chromosome region 23 GTF2I 7q11.23 general transcription factor II, i GTF2IRD2 7q11.23 transcription factor GTF2IRD2 LOC389522 7 similar to Cohesin subunit SA-3 (Stromal antigen 3) (SCC3 homolog 3) PMS2L5 7q11-q22 postmeiotic segregation increased 2-like 5 LOC389523 7 similar to opposite strand transcription unit to Stag3; Gats protein WBSCR16 7q11.23 Williams-Beuren syndrome chromosome region 16 LOC389524 7 similar to transcription factor GTF2IRD2 NCF1 7q11.23 neutrophil cytosolic factor 1 (47kDa, chronic granulomatous disease, autosomal 1) LOC392058 7 similar to opposite strand transcription unit to Stag3; Gats protein PMS2L2 7q11-q22 postmeiotic segregation increased 2-like 2 LOC222190 7q11.23 hypothetical gene supported by AK024602 DKFZP434A0131 7q11.23-q21.1 DKFZp434A0131 protein TRIM50B 7q11.23 tripartite motif-containing 50B WBSCR20B 7q11.23 tripartite motif-containing 50B LOC340318 7q11.23 hypothetical protein LOC340318 PMS2L9 7q11.23 postmeiotic segregation increased 2-like 9 HIP1 7q11.23 huntingtin interacting protein 1 CCL26 7q11.23 chemokine (C-C motif) ligand 26 CCL24 7q11.23 chemokine (C-C motif) ligand 24 LOC392059 7 similar to ALY NPD007 7q11.23 NPD007 protein POR 7q11.2 P450 (cytochrome) oxidoreductase TMPIT 7q11.23 transmembrane protein induced by tumor necrosis factor alpha MK-STYX 7q11.23 map kinase phosphatase-like protein MK-STYX MDH2 7cen-q22 malate dehydrogenase 2, NAD (mitochondrial) LOC389525 7 similar to hypothetical protein LOC285908 LOC392060 7 similar to GrpE protein homolog 1, mitochondrial precursor (Mt-GrpE#1) (HMGE) LOC392061 7 similar to GTF2I repeat domain containing 1 isoform 2; Williams-Beuren syndrome chromosome region 11; GTF2I repeat domain-containing 1; general transcription factor 3; muscle TFII-I repeat domain-containing protein 1 alpha 1 FLJ37078 7q11.23 hypothetical protein FLJ37078 HSPB1 7q11.23 heat shock 27kDa protein 1 YWHAG 7q11.23 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide LOC392062 7 similar to peptidylprolyl isomerase A SRCRB4D 7p12.3 scavenger receptor cysteine rich domain containing, group B (4 domains) ZP3 7q11.23 zona pellucida glycoprotein 3 (sperm receptor) DTX2 7p12.3 deltex homolog 2 (Drosophila) UPK3B 7q11.2 uroplakin 3B POMZP3 7q11.23 POM (POM121 homolog, rat) and ZP3 fusion
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
31 - 8051 115.4 1030 - 2005 15533941
- - 7898 - 1003 - 2005 15533941
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen    
Digestiveliver    
Nervousbrain   predominantly
Reproductivemale systemtestis   
Respiratorylung    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Lymphoid    
Nervouscentral   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
Reproductivespermatid
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four-tyrosine "HIP1 phosphorylation motif" (HPM) in the N-terminal region required for phosphorylation mediated by both EGFR and PDGFRB
  • ENTH domain (epsin N terminal homology)
  • copies of the sequence motif DPF (Asp-Pro-Phe)
  • coiled coil forming domain containing a potential clathrin binding motif, and is potentially uniquely suited to allow conformational flexibility
  • talin like actin-binding domain, TALIN homology domains that have the capacity to interact with actin
  • HOMOLOGY
    interspecies homolog to yeast S. cerevisiae Sla2p or End4p,Mop2p
    ortholog to murine Hip1 hutingtin interacting protein 1
    Homologene
    FAMILY SLA2 family
    CATEGORY structural protein , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,nucleus
    text
  • associated with the clathrin coated vesicles
  • highly colocalized with clathrin at the plasma membrane and shares similar dynamics with a subpopulation of clathrin assemblies
  • postsynaptic HIP1 is concentrated near the plasma membrane
  • basic FUNCTION
  • putatively involved in endocytosis and synaptic vesicle recycling in neurons
  • may be playing a fundamental role in clathrin trafficking
  • required for the survival /proliferation of diverses types of somatic cells including hematopoietic progenitors
  • regulating clathrin assembly through direct binding to the regulatory region of the clathrin light chain
  • EPN1 and huntingtin-interacting protein 1 (HIP1) are endocytic accessory proteins
  • EPN1 and HIP1 in the synapse: as broadly required factors for promoting clathrin assembly and as adaptors for specific endocytic pathways
  • playing roles with HIP1R in affecting clathrin assembly and actin distribution are mediated by their interaction with the conserved sequence of clathrin light chains
  • plays a key role in endocytosis and intracellular transport, and in Notch-mediated neurogenesis
  • accessory protein of the clathrin-mediated endocytosis (CME) pathway
  • role in pits maturation and formation of the coated vesicle, and having strong dependence on clathrin for membranal localization
  • important link between the actin cytoskeleton and clathrin-mediated endocytosis machinery
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS endocytosis transport
    PATHWAY
    metabolism
    signaling
    a component
  • component of clathrin coats
  • EFT57/HIP1 heterodimer recruits procaspase-8, followed by its activation and induction of the downstream apoptotic cascade
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • huntingtin, clathrin, AP2 (adaptor protein 2), playing a functinal role in clathrin-mediated endocytosis
  • clathrin heavy chain 1, alpha adaptin A CLAPA1 and alpha adaptin CL, AP2A2
  • actin binding by HIP1 and HIP1R is regulated by clathrin light chain
  • binding of HIP1 to actin is regulated through an interaction with clathrin light chain
  • interacts with SCF-activated KIT
  • proapoptotic protein that preferentially interacts with wild type HTT, but under diseased conditions when HTT is mutated, HIP1 dissociates from mutant HTT and interacts with IFT57
  • cell & other
    REGULATION
    Phosphorylated by receptor tyrosine kinases (RTKs) and phosphorylation of HIP1 by RTKs in an N-terminal region contributes to the promotion of cellular survival (pMID: 23836884)
    Other huntingtin polyglutamine expansion liberates (heterodimer with ESRRBL1 and CASP8 favoured)
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL7Q1123
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion translocation   protein chimeric
    t(5;7)(q33;q11.2) in chronic myelomonocytic leukemia leading to a HIP1-PDGFRB gene fusion
    tumoral     --over  
    in multiple tumors(prostate and colon tumor)
    constitutional     --over  
    in fibroblasts from progeria patients and elderly individuals
    tumoral     --over  
    in Merkel cell carcinoma
    constitutional     --over  
    increases levels of the RTK epidermal growth factor receptor (EGFR) and transforms fibroblasts
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS