HIP1 (Huntingtin interactin protein 1)

Identity

HGNC	HIP1
Location	7q11.2
	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	HIP1   4913
Entrez_Gene	HIP1  3092  huntingtin interacting protein 1
	Cards
Atlas	HIP1ID138
GeneCards	HIP1
Ensembl	HIP1 [Search_View]   ENSG00000127946 [Gene_View]
Genatlas	HIP1
GeneLynx	HIP1
eGenome	HIP1
euGene	3092
	Genomic and cartography
GoldenPath	HIP1  -  7q11.2   chr7:75001345-75206215 -  7q11.23   [Description]    (hg18-Mar_2006)
Ensembl	HIP1 - 7q11.23 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	HIP1
	Gene and transcription
Genbank	AF365404 [ ENTREZ ]
Genbank	AF486833 [ ENTREZ ]
Genbank	AI978782 [ ENTREZ ]
Genbank	AK094866 [ ENTREZ ]
Genbank	BC110545 [ ENTREZ ]
RefSeq	NM_005338 [ SRS ]    NM_005338 [ ENTREZ ]
RefSeq	AC_000050 [ SRS ]    AC_000050 [ ENTREZ ]
RefSeq	AC_000068 [ SRS ]    AC_000068 [ ENTREZ ]
RefSeq	AC_000139 [ SRS ]    AC_000139 [ ENTREZ ]
RefSeq	NC_000007 [ SRS ]    NC_000007 [ ENTREZ ]
RefSeq	NT_007933 [ SRS ]    NT_007933 [ ENTREZ ]
RefSeq	NT_079595 [ SRS ]    NT_079595 [ ENTREZ ]
RefSeq	NW_001839047 [ SRS ]    NW_001839047 [ ENTREZ ]
RefSeq	NW_923484 [ SRS ]    NW_923484 [ ENTREZ ]
AceView	HIP1 AceView - NCBI
Unigene	Hs.619089 [ SRS ]    Hs.619089 [ NCBI ]     HS619089 [ spliceNest ]
Fast-db	7002 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	O00291 [ SRS]    O00291 [ EXPASY ]     O00291 [ INTERPRO ]     O00291 [ UNIPROT ]
Prosite	PS50942 ENTH [ SRS ]    PS50942 ENTH [ Expasy ]
Prosite	PS50945 I_LWEQ [ SRS ]    PS50945 I_LWEQ [ Expasy ]
Interpro	IPR011417 ANTH [ SRS ]    IPR011417 ANTH [ EBI ]
Interpro	IPR008942 ENTH_VHS [ SRS ]    IPR008942 ENTH_VHS [ EBI ]
Interpro	IPR013809 Epsin-like_N [ SRS ]    IPR013809 Epsin-like_N [ EBI ]
Interpro	IPR002558 ILWEQ [ SRS ]    IPR002558 ILWEQ [ EBI ]
CluSTr	O00291
Pfam	PF07651 ANTH [ SRS ]    PF07651 ANTH [ Sanger ]    pfam07651 [ NCBI-CDD ]
Pfam	PF01608 I_LWEQ [ SRS ]    PF01608 I_LWEQ [ Sanger ]    pfam01608 [ NCBI-CDD ]
Smart	SM00273 ENTH [EMBL]
Smart	SM00307 ILWEQ [EMBL]
Prodom	PD011820 ILWEQ[INRA-Toulouse]
Prodom	O00291 HIP1_HUMAN [ Domain structure ]   O00291 HIP1_HUMAN  [ sequences sharing at least 1 domain ]
Blocks	O00291
PDB	2NO2 [ SRS ]    2NO2 [ PdbSum ],   2NO2 [ IMB ]   2NO2 [ RSDB ]
HPRD	03461
	Protein Interaction databases
DIP	O00291
IntAct	O00291
	Polymorphism : SNP, mutations, diseases
OMIM	176807;601767    [ map ]
GENECLINICS	176807;601767
SNP	HIP1 [dbSNP-NCBI]
SNP	NM_005338 [SNP-NCI]
SNP	HIP1 [GeneSNPs - Utah]  HIP1] [HGBASE - SRS]
HAPMAP	HIP1 [HAPMAP]
COSMIC	HIP1 [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	HIP1 [Translocation breakpoints In Cancer]
HGMD	HIP1
	General knowledge
Family Browser	HIP1 [UCSC Family Browser]
SOURCE	NM_005338
SMD	Hs.619089
SAGE	Hs.619089
GO	actin binding [Amigo]  actin binding
GO	structural constituent of cytoskeleton [Amigo]  structural constituent of cytoskeleton
GO	phospholipid binding [Amigo]  phospholipid binding
GO	membrane fraction [Amigo]  membrane fraction
GO	cytoplasm [Amigo]  cytoplasm
GO	Golgi apparatus [Amigo]  Golgi apparatus
GO	cytoskeleton [Amigo]  cytoskeleton
GO	endocytosis [Amigo]  endocytosis
GO	caspase activation [Amigo]  caspase activation
GO	endomembrane system [Amigo]  endomembrane system
GO	membrane [Amigo]  membrane
GO	clathrin binding [Amigo]  clathrin binding
GO	regulation of apoptosis [Amigo]  regulation of apoptosis
GO	clathrin coat assembly [Amigo]  clathrin coat assembly
KEGG	Huntington's disease
PubGene	HIP1
TreeFam	HIP1
CTD	3092 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	Cancer Cytogenetics (Bari)
Probe	HIP1 Related clones (RZPD - Berlin)
	PubMed
PubMed	30 Pubmed reference(s) in LocusLink

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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	08-1998	Jean-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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 21:14:19 2008