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
HIP1
LOCATION
7q11.23
IMAGE
Atlas Image
LEGEND
HIP1 (7q11) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
3092
ALIAS
HIP-I,ILWEQ,SHON,SHONbeta,SHONgamma
FUSION GENES
Show Gene Fusions

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)

Article 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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
387260042024KIF1C and new Huntingtin-interacting protein 1 binding proteins regulate rheumatoid arthritis fibroblast-like synoviocytes' phenotypes.0
387260042024KIF1C and new Huntingtin-interacting protein 1 binding proteins regulate rheumatoid arthritis fibroblast-like synoviocytes' phenotypes.0
333685492021MOBP and HIP1 in multiple system atrophy: New α-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis.10
333685492021MOBP and HIP1 in multiple system atrophy: New α-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis.10
315352032020White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy.25
320698952020miR-1272 Exerts Tumor-Suppressive Functions in Prostate Cancer via HIP1 Suppression.5
315352032020White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy.25
320698952020miR-1272 Exerts Tumor-Suppressive Functions in Prostate Cancer via HIP1 Suppression.5
292846592018A Targeted RNAi Screen Identifies Endocytic Trafficking Factors That Control GLP-1 Receptor Signaling in Pancreatic β-Cells.19
300498302018Huntingtin-interacting protein 1 (HIP1) regulates arthritis severity and synovial fibroblast invasiveness by altering PDGFR and Rac1 signalling.17
302245182018Deficiency of the Endocytic Protein Hip1 Leads to Decreased Gdpd3 Expression, Low Phosphocholine, and Kypholordosis.5
292846592018A Targeted RNAi Screen Identifies Endocytic Trafficking Factors That Control GLP-1 Receptor Signaling in Pancreatic β-Cells.19
300498302018Huntingtin-interacting protein 1 (HIP1) regulates arthritis severity and synovial fibroblast invasiveness by altering PDGFR and Rac1 signalling.17
302245182018Deficiency of the Endocytic Protein Hip1 Leads to Decreased Gdpd3 Expression, Low Phosphocholine, and Kypholordosis.5
284523742017Prognostic 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/gene-explorer/favicon/css/card-gene.css