HIP1 (Huntingtin interactin protein 1)

1998-08-01   Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
LOCATION
7q11.23
IMAGE
Atlas Image
LEGEND
HIP1 (7q11) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
ALIAS
HIP-I,ILWEQ,SHON,SHONbeta,SHONgamma
FUSION GENES

DNA/RNA

Transcription

cDNA: 9.4 kb; coding sequence: 2.9 kb

Proteins

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 name
t(5;7)(q33;q11)/myeloid malignancies --> PDGFRb - HIP1
Disease
yet unknown: only one case of chronic myelomonocytic leukaemia
Hybrid gene
5 HIP1- 3 PDGFRb
Fusion 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)

Bibliography

Pubmed IDLast YearTitleAuthors
91403941997HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain.Kalchman MA et al
91476541997HIP-I: a huntingtin interacting protein isolated by the yeast two-hybrid system.Wanker EE et al

Other Information

Locus ID:

NCBI: 3092
MIM: 601767
HGNC: 4913
Ensembl: ENSG00000127946

Variants:

dbSNP: 3092
ClinVar: 3092
TCGA: ENSG00000127946
COSMIC: HIP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000127946ENST00000336926O00291
ENSG00000127946ENST00000420909C9JMG5
ENSG00000127946ENST00000434438O00291
ENSG00000127946ENST00000616821O00291

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Huntington's diseaseKEGGko05016
Huntington's diseaseKEGGhsa05016
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
117888202002Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi.73
155339402005Huntingtin-interacting protein 1 (Hip1) and Hip1-related protein (Hip1R) bind the conserved sequence of clathrin light chains and thereby influence clathrin assembly in vitro and actin distribution in vivo.41
121634542002Huntingtin-interacting protein 1 is overexpressed in prostate and colon cancer and is critical for cellular survival.35
118891262002HIP1 and HIP12 display differential binding to F-actin, AP2, and clathrin. Identification of a novel interaction with clathrin light chain.32
155813532004Intrasteric inhibition mediates the interaction of the I/LWEQ module proteins Talin1, Talin2, Hip1, and Hip12 with actin.28
187907402008Actin binding by Hip1 (huntingtin-interacting protein 1) and Hip1R (Hip1-related protein) is regulated by clathrin light chain.27
211092262010Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.23
244960032014HIP1-ALK, a novel ALK fusion variant that responds to crizotinib.23
160272182005Huntingtin interacting protein 1 modulates the transcriptional activity of nuclear hormone receptors.22
147327152004HIP1 and HIP1r stabilize receptor tyrosine kinases and bind 3-phosphoinositides via epsin N-terminal homology domains.21

Citation

Jean-Loup Huret

HIP1 (Huntingtin interactin protein 1)

Atlas Genet Cytogenet Oncol Haematol. 1998-08-01

Online version: http://atlasgeneticsoncology.org/gene/138/hip1-(huntingtin-interactin-protein-1)