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HIP1 (Huntingtin interactin protein 1)

Written1998-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)ILWEQ
Other alias
HGNC (Hugo) HIP1
LocusID (NCBI) 3092
Atlas_Id 138
Location 7q11.23  [Link to chromosome band 7q11]
Location_base_pair Starts at 75162619 and ends at 75368290 bp from pter ( according to hg19-Feb_2009)  [Mapping HIP1.png]
 
  HIP1 (7q11) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2016)
ANGPT1 (8q23.1) / HIP1 (7q11.23)HACD2 (3q21.1) / HIP1 (7q11.23)HIP1 (7q11.23) / ALK (2p23.2)
HIP1 (7q11.23) / PDGFRB (5q32)PDGFRB (5q32) / HIP1 (7q11.23)SLC20A2 (8p11.21) / HIP1 (7q11.23)

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

Note
  
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).

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, Wälter S, Tait D, Colicelli J, Lehrach H
Human molecular genetics. 1997 ; 6 (3) : 487-495.
PMID 9147654
 

Citation

This paper should be referenced as such :
Huret, JL
HIP1 (huntingtin interactin protein 1)
Atlas Genet Cytogenet Oncol Haematol. 1998;2(4):120-121.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/HIP1ID138.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(5;7)(q33;q11) HIP1/PDGFRB


External links

Nomenclature
HGNC (Hugo)HIP1   4913
Cards
AtlasHIP1ID138
Entrez_Gene (NCBI)HIP1  3092  huntingtin interacting protein 1
AliasesHIP-I; ILWEQ; SHON; SHONbeta; 
SHONgamma
GeneCards (Weizmann)HIP1
Ensembl hg19 (Hinxton)ENSG00000127946 [Gene_View]  chr7:75162619-75368290 [Contig_View]  HIP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000127946 [Gene_View]  chr7:75162619-75368290 [Contig_View]  HIP1 [Vega]
ICGC DataPortalENSG00000127946
TCGA cBioPortalHIP1
AceView (NCBI)HIP1
Genatlas (Paris)HIP1
WikiGenes3092
SOURCE (Princeton)HIP1
Genetics Home Reference (NIH)HIP1
Genomic and cartography
GoldenPath hg19 (UCSC)HIP1  -     chr7:75162619-75368290 -  7q11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HIP1  -     7q11.23   [Description]    (hg38-Dec_2013)
EnsemblHIP1 - 7q11.23 [CytoView hg19]  HIP1 - 7q11.23 [CytoView hg38]
Mapping of homologs : NCBIHIP1 [Mapview hg19]  HIP1 [Mapview hg38]
OMIM176807   601767   
Gene and transcription
Genbank (Entrez)AF365404 AF486833 AI978782 AK094866 AK296390
RefSeq transcript (Entrez)NM_001243198 NM_005338
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_023251 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)HIP1
Cluster EST : UnigeneHs.674397 [ NCBI ]
CGAP (NCI)Hs.674397
Alternative Splicing GalleryENSG00000127946
Gene ExpressionHIP1 [ NCBI-GEO ]   HIP1 [ EBI - ARRAY_EXPRESS ]   HIP1 [ SEEK ]   HIP1 [ MEM ]
Gene Expression Viewer (FireBrowse)HIP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3092
GTEX Portal (Tissue expression)HIP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00291   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00291  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00291
Splice isoforms : SwissVarO00291
PhosPhoSitePlusO00291
Domaine pattern : Prosite (Expaxy)ENTH (PS50942)    I_LWEQ (PS50945)   
Domains : Interpro (EBI)ANTH_dom    ENTH    ENTH_VHS    HIP1    HIP1_clath-bd    ILWEQ_dom    Sla2_fam   
Domain families : Pfam (Sanger)ANTH (PF07651)    HIP1_clath_bdg (PF16515)    I_LWEQ (PF01608)   
Domain families : Pfam (NCBI)pfam07651    pfam16515    pfam01608   
Domain families : Smart (EMBL)ENTH (SM00273)  ILWEQ (SM00307)  
Domain structure : Prodom (Prabi Lyon)ILWEQ (PD011820)   
Conserved Domain (NCBI)HIP1
DMDM Disease mutations3092
Blocks (Seattle)HIP1
PDB (SRS)2NO2    2QA7    3I00   
PDB (PDBSum)2NO2    2QA7    3I00   
PDB (IMB)2NO2    2QA7    3I00   
PDB (RSDB)2NO2    2QA7    3I00   
Structural Biology KnowledgeBase2NO2    2QA7    3I00   
SCOP (Structural Classification of Proteins)2NO2    2QA7    3I00   
CATH (Classification of proteins structures)2NO2    2QA7    3I00   
SuperfamilyO00291
Human Protein AtlasENSG00000127946
Peptide AtlasO00291
HPRD03461
IPIIPI00782965   IPI00926196   IPI00925974   
Protein Interaction databases
DIP (DOE-UCLA)O00291
IntAct (EBI)O00291
FunCoupENSG00000127946
BioGRIDHIP1
STRING (EMBL)HIP1
ZODIACHIP1
Ontologies - Pathways
QuickGOO00291
Ontology : AmiGOactin binding  structural constituent of cytoskeleton  protein binding  nucleus  cytoplasm  Golgi apparatus  cytoskeleton  transcription, DNA-templated  regulation of transcription, DNA-templated  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  membrane  clathrin-coated vesicle  cell differentiation  clathrin binding  clathrin-coated vesicle membrane  phosphatidylinositol binding  regulation of apoptotic process  intracellular membrane-bounded organelle  positive regulation of receptor-mediated endocytosis  clathrin coat assembly  clathrin-mediated endocytosis  apoptotic signaling pathway  
Ontology : EGO-EBIactin binding  structural constituent of cytoskeleton  protein binding  nucleus  cytoplasm  Golgi apparatus  cytoskeleton  transcription, DNA-templated  regulation of transcription, DNA-templated  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  membrane  clathrin-coated vesicle  cell differentiation  clathrin binding  clathrin-coated vesicle membrane  phosphatidylinositol binding  regulation of apoptotic process  intracellular membrane-bounded organelle  positive regulation of receptor-mediated endocytosis  clathrin coat assembly  clathrin-mediated endocytosis  apoptotic signaling pathway  
Pathways : KEGGHuntington's disease   
REACTOMEO00291 [protein]
REACTOME Pathways8856828 [pathway]   
NDEx NetworkHIP1
Atlas of Cancer Signalling NetworkHIP1
Wikipedia pathwaysHIP1
Orthology - Evolution
OrthoDB3092
GeneTree (enSembl)ENSG00000127946
Phylogenetic Trees/Animal Genes : TreeFamHIP1
HOVERGENO00291
HOGENOMO00291
Homologs : HomoloGeneHIP1
Homology/Alignments : Family Browser (UCSC)HIP1
Gene fusions - Rearrangements
Fusion : MitelmanHIP1/ALK [7q11.23/2p23.2]  
Fusion : MitelmanHIP1/PDGFRB [7q11.23/5q32]  [t(5;7)(q32;q11)]  
Fusion : MitelmanSLC20A2/HIP1 [8p11.21/7q11.23]  [t(7;8)(q11;p11)]  
Fusion : COSMICHIP1 [7q11.23]  -  ALK [2p23.2]  [fusion_1614]  [fusion_1615]  [fusion_1620]  [fusion_1621]  [fusion_1712]  [fusion_1713]  
Fusion: TCGASLC20A2 8p11.21 HIP1 7q11.23 BRCA
Fusion : TICdbHIP1 [7q11.23]  -  PDGFRB [5q32]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHIP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HIP1
dbVarHIP1
ClinVarHIP1
1000_GenomesHIP1 
Exome Variant ServerHIP1
ExAC (Exome Aggregation Consortium)HIP1 (select the gene name)
Genetic variants : HAPMAP3092
Genomic Variants (DGV)HIP1 [DGVbeta]
DECIPHER (Syndromes)7:75162619-75368290  ENSG00000127946
CONAN: Copy Number AnalysisHIP1 
Mutations
ICGC Data PortalHIP1 
TCGA Data PortalHIP1 
Broad Tumor PortalHIP1
OASIS PortalHIP1 [ Somatic mutations - Copy number]
Cancer Gene: CensusHIP1 
Somatic Mutations in Cancer : COSMICHIP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHIP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HIP1
DgiDB (Drug Gene Interaction Database)HIP1
DoCM (Curated mutations)HIP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HIP1 (select a term)
intoGenHIP1
NCG5 (London)HIP1
Cancer3DHIP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM176807    601767   
Orphanet
MedgenHIP1
Genetic Testing Registry HIP1
NextProtO00291 [Medical]
TSGene3092
GENETestsHIP1
Huge Navigator HIP1 [HugePedia]
snp3D : Map Gene to Disease3092
BioCentury BCIQHIP1
ClinGenHIP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3092
Chemical/Pharm GKB GenePA29289
Clinical trialHIP1
Miscellaneous
canSAR (ICR)HIP1 (select the gene name)
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHIP1
EVEXHIP1
GoPubMedHIP1
iHOPHIP1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:42:02 CET 2017

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.