HIP1 (Huntingtin interactin protein 1)

Identity

HGNC

HIP1

LOCATION

7q11.23

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 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

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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)

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

Pathway	Source	External ID
Clathrin-mediated endocytosis	REACTOME	R-HSA-8856828
Huntington's disease	KEGG	ko05016
Huntington's disease	KEGG	hsa05016
Membrane Trafficking	REACTOME	R-HSA-199991
Vesicle-mediated transport	REACTOME	R-HSA-5653656

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Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
28452374	2017	Prognostic significance of huntingtin interacting protein 1 expression on patients with acute myeloid leukemia.	11
29284659	2018	A Targeted RNAi Screen Identifies Endocytic Trafficking Factors That Control GLP-1 Receptor Signaling in Pancreatic β-Cells.	19
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
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
30224518	2018	Deficiency of the Endocytic Protein Hip1 Leads to Decreased Gdpd3 Expression, Low Phosphocholine, and Kypholordosis.	5
31535203	2020	White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy.	25
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

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Citation

Jean-Loup Huret

HIP1 (Huntingtin interactin protein 1)

Atlas Genet Cytogenet Oncol Haematol. 1998-08-01

Online version: http://atlasgeneticsoncology.org/gene/138