HIP1R (huntingtin interacting protein 1 related)

2014-08-01  

Identity

HGNC
LOCATION
12q24.31
LOCUSID
ALIAS
HIP12,HIP3,ILWEQ
FUSION GENES

Other Information

Locus ID:

NCBI: 9026
MIM: 605613
HGNC: 18415
Ensembl: ENSG00000130787

Variants:

dbSNP: 9026
ClinVar: 9026
TCGA: ENSG00000130787
COSMIC: HIP1R

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130787ENST00000253083O75146
ENSG00000130787ENST00000535012H0YH66

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Golgi Associated Vesicle BiogenesisREACTOMER-HSA-432722
Clathrin-mediated endocytosisREACTOMER-HSA-8856828

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
147427092004RNAi-mediated Hip1R silencing results in stable association between the endocytic machinery and the actin assembly machinery.56
164158832006Structural definition of the F-actin-binding THATCH domain from HIP1R.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
181653182008Clathrin light chains function in mannose phosphate receptor trafficking via regulation of actin assembly.28
187907402008Actin binding by Hip1 (huntingtin-interacting protein 1) and Hip1R (Hip1-related protein) is regulated by clathrin light chain.27
179284472007Huntingtin-interacting protein 1 influences worm and mouse presynaptic function and protects Caenorhabditis elegans neurons against mutant polyglutamine toxicity.24
147327152004HIP1 and HIP1r stabilize receptor tyrosine kinases and bind 3-phosphoinositides via epsin N-terminal homology domains.21
174523702007Degenerative phenotypes caused by the combined deficiency of murine HIP1 and HIP1r are rescued by human HIP1.19

Citation

Dessen P

HIP1R (huntingtin interacting protein 1 related)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54361/hip1r-(huntingtin-interacting-protein-1-related)