HIP1 (Huntingtin interactin protein 1)
1998-08-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
7q11.23
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
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)
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9140394 | 1997 | HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain. | Kalchman MA et al |
| 9147654 | 1997 | HIP-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 ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000127946 | ENST00000336926 | O00291 |
| ENSG00000127946 | ENST00000420909 | C9JMG5 |
| ENSG00000127946 | ENST00000434438 | O00291 |
| ENSG00000127946 | ENST00000616821 | O00291 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38726004 | 2024 | KIF1C and new Huntingtin-interacting protein 1 binding proteins regulate rheumatoid arthritis fibroblast-like synoviocytes' phenotypes. | 0 |
| 38726004 | 2024 | KIF1C and new Huntingtin-interacting protein 1 binding proteins regulate rheumatoid arthritis fibroblast-like synoviocytes' phenotypes. | 0 |
| 33368549 | 2021 | MOBP and HIP1 in multiple system atrophy: New α-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis. | 10 |
| 33368549 | 2021 | MOBP and HIP1 in multiple system atrophy: New α-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis. | 10 |
| 31535203 | 2020 | White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy. | 25 |
| 32069895 | 2020 | miR-1272 Exerts Tumor-Suppressive Functions in Prostate Cancer via HIP1 Suppression. | 5 |
| 31535203 | 2020 | White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy. | 25 |
| 32069895 | 2020 | miR-1272 Exerts Tumor-Suppressive Functions in Prostate Cancer via HIP1 Suppression. | 5 |
| 29284659 | 2018 | A Targeted RNAi Screen Identifies Endocytic Trafficking Factors That Control GLP-1 Receptor Signaling in Pancreatic β-Cells. | 19 |
| 30049830 | 2018 | Huntingtin-interacting protein 1 (HIP1) regulates arthritis severity and synovial fibroblast invasiveness by altering PDGFR and Rac1 signalling. | 17 |
| 30224518 | 2018 | Deficiency of the Endocytic Protein Hip1 Leads to Decreased Gdpd3 Expression, Low Phosphocholine, and Kypholordosis. | 5 |
| 29284659 | 2018 | A Targeted RNAi Screen Identifies Endocytic Trafficking Factors That Control GLP-1 Receptor Signaling in Pancreatic β-Cells. | 19 |
| 30049830 | 2018 | Huntingtin-interacting protein 1 (HIP1) regulates arthritis severity and synovial fibroblast invasiveness by altering PDGFR and Rac1 signalling. | 17 |
| 30224518 | 2018 | Deficiency of the Endocytic Protein Hip1 Leads to Decreased Gdpd3 Expression, Low Phosphocholine, and Kypholordosis. | 5 |
| 28452374 | 2017 | Prognostic significance of huntingtin interacting protein 1 expression on patients with acute myeloid leukemia. | 11 |
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)
