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HIP1 (Huntingtin interactin protein 1)

Identity

HGNC (Hugo) HIP1
Location 7q11.2
Location_base_pair Starts at 75001345 and ends at 75206215 bp from pter ( according to hg18-Mar_2006)  [Mapping]
 
  HIP1 (7q11) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

DNA/RNA

Transcription cDNA: 9.4 kb; coding sequence: 2.9 kb

Protein

Description 968 amino acids; 116 kDa; contains a leucine zipper (amino acids 412-433) and a region with homology to talin, a cytoskeletal associated protein (amino acids 861-900).
Expression wide; brain in particular
Localisation membrane associated protein
Function probable role in the cytoskeleton organization
Homology with Sla2p (SLA2 gene product in yeast)

Implicated in

Entity t(5;7)(q33;q11)/myeloid malignancies --> PDGFRb - HIP1
Disease yet unknown: only one case of chronic myelomonocytic leukaemia
Hybrid/Mutated Gene 5' HIP1- 3' PDGFRb
Abnormal Protein nearly all of HIP1, including the leucine zipper and talin homology domains, is fused to the transmembrane and tyrosine kinase domain of the PDGFb.
Oncogenesis constitutive activation of PDGFb (by tyrosine autophosphorylation)
  

To be noted

HIP1, as its name indicates, interacts with huntingtin, the protein mutated (expansion of CAG/glutamine repeats) in Huntington's disease (progressive chorea, dementia, and depression or psychotic disorders; OMIM 143100).

External links

Nomenclature
HGNC (Hugo)HIP1   4913
Entrez_Gene (NCBI)HIP1  3092  huntingtin interacting protein 1
Cards
AtlasHIP1ID138
GeneCards (Weizmann)HIP1
Ensembl (Hinxton)ENSG00000127946 [Gene_View]  HIP1 [Vega]
AceView (NCBI)HIP1
Genatlas (Paris)HIP1
euGene (Indiana)3092
SOURCE (Stanford)NM_005338
Genomic and cartography
GoldenPath (UCSC)HIP1  -  7q11.2   chr7:75001345-75206215 -  7q11.23   [Description]    (hg18-Mar_2006)
EnsemblHIP1 - 7q11.23 [CytoView]
Mapping of homologs : NCBIHIP1 [Mapview]
OMIM176807   601767   
Gene and transcription
Gene : Genbank (Entrez)AF365404 AF486833 AI978782 AK094866 AK296390
Reference sequence (RefSeq transcript) :SRSNM_005338
Reference transcript : EntrezNM_005338
RefSeq genomic : SRSAC_000050 AC_000068 AC_000139 NC_000007 NT_007933 NT_079595 NW_001839047 NW_923484
RefSeq genomic : EntrezAC_000050 AC_000068 AC_000139 NC_000007 NT_007933 NT_079595 NW_001839047 NW_923484
Consensus coding sequences : CCDS NCBIHIP1
Cluster EST : UnigeneHs.619089 [ SRS ] Hs.619089 [ NCBI ]
Alternative Splicing : Fast-db (Paris)7002
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtO00291 (SRS) O00291 (Expasy) O00291 (Uniprot)
With graphics : InterProO00291
Splice isoforms : VarSplice FASTAO00291(VarSplice FASTA)
Domaine pattern : Prosite (SRS)ENTH (PS50942)    I_LWEQ (PS50945)   
Domain pattern : Prosite (Expaxy)ENTH (PS50942)    I_LWEQ (PS50945)   
Domains : Interpro (SRS)ANTH    ENTH_VHS    Epsin-like_N    ILWEQ   
Domains : Interpro (EBI)ANTH    ENTH_VHS    Epsin-like_N    ILWEQ   
Related proteins : CluSTrO00291
Domain families : Pfam SRSANTH (PF07651)    I_LWEQ (PF01608)   
Domain families : Pfam SangerANTH (PF07651)    I_LWEQ (PF01608)   
Domain families : Pfam NCBIpfam07651    pfam01608   
Domain families : Smart EMBLENTH (SM00273)ILWEQ (SM00307)
Domain structure : Prodom (Prabi Lyon)ILWEQ (PD011820)   
Blocks (Seattle)O00291
Crystal structure of protein : PDB SRS2NO2    2QA7   
Crystal structure of protein : PDBSum2NO2    2QA7   
Crystal structure of protein : IMB2NO2    2QA7   
Crystal structure of protein : PDB RSDB2NO2    2QA7   
HPRD03461
Protein Interaction databases
DIP (DOE-UCLA)O00291
IntAct (EBI)O00291
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIHIP1
SNP : GeneSNP UtahHIP1
SNP : HGBaseHIP1
Genetic variants : HAPMAPHIP1
Somatic Mutations in Cancer : COSMICHIP1 
Translocation Breakpoints in Cancer : TICdbHIP1 
Mutations and Diseases : HGMDHIP1
Hereditary diseases : OMIM176807    601767   
Hereditary diseases : GENETests176807    601767   
Diseases : Genetic AssociationHIP1
General knowledge
Homologs : HomoloGeneHIP1
Homology/Alignments : Family Browser UCSCHIP1
Phylogenetic Trees/Animal Genes : TreeFamHIP1
Chemical/Protein Interactions : CTD3092
Keywords Ontology : AmiGOactin binding  structural constituent of cytoskeleton  membrane fraction  nucleus  cytoplasm  Golgi apparatus  cytoskeleton  transcription  regulation of transcription, DNA-dependent  endocytosis  induction of apoptosis  activation of caspase activity  cell death  endomembrane system  membrane  clathrin-coated vesicle  cell differentiation  clathrin binding  cytoplasmic vesicle  phosphoinositide binding  regulation of apoptosis  positive regulation of receptor-mediated endocytosis  clathrin coat assembly  
Keywords Ontology : EGO-EBIactin binding  structural constituent of cytoskeleton  membrane fraction  nucleus  cytoplasm  Golgi apparatus  cytoskeleton  transcription  regulation of transcription, DNA-dependent  endocytosis  induction of apoptosis  activation of caspase activity  cell death  endomembrane system  membrane  clathrin-coated vesicle  cell differentiation  clathrin binding  cytoplasmic vesicle  phosphoinositide binding  regulation of apoptosis  positive regulation of receptor-mediated endocytosis  clathrin coat assembly  
Pathways : BIOCARTA
Pathways : KEGGHuntington's disease
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Probes : ImagenesHIP1 Related clones (RZPD - Berlin)
Literature
PubMed31 Pubmed reference(s) in Entrez
PubGeneHIP1

Bibliography

HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain.
Kalchman MA, Koide HB, McCutcheon K, Graham RK, Nichol K, Nishiyama K, Kazemi-Esfarjani P, Lynn FC, Wellington C, Metzler M, Goldberg YP, Kanazawa I, Gietz RD, Hayden MR
Nature genetics. 1997 ; 16 (1) : 44-53.
PMID 9140394
 
HIP-I: a huntingtin interacting protein isolated by the yeast two-hybrid system.
Wanker EE, Rovira C, Scherzinger E, Hasenbank R, Wˆ§lter S, Tait D, Colicelli J, Lehrach H
Human molecular genetics. 1997 ; 6 (3) : 487-495.
PMID 9147654
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written08-1998Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . HIP1 (Huntingtin interactin protein 1). Atlas Genet Cytogenet Oncol Haematol. August 1998 .
URL : http://AtlasGeneticsOncology.org/Genes/HIP1ID138.html

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indexed on : Sat Jun 27 16:36:59 CEST 2009
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