Gene Facts External Data Attribution

HGNC Symbol
HIP1 (HGNC:4913) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
huntingtin interacting protein 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
ILWEQ
%HI
34.13(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.76(Read more about gnomAD pLI score)
LOEUF
0.33(Read more about gnomAD LOEUF score)
Cytoband
7q11.23
Genomic Coordinates
GRCh37/hg19: chr7:75162619-75368259 NCBI Ensembl UCSC
GRCh38/hg38: chr7:75533298-75738941 NCBI Ensembl UCSC
MANE Select Transcript
NM_005338.7 ENST00000336926.11 (Read more about MANE Select)
Function
Plays a role in clathrin-mediated endocytosis and trafficking (PubMed:11532990, PubMed:11577110, PubMed:11889126). Involved in regulating AMPA receptor trafficking in the central nervous system in an NMDA-dependent manner (By similarity). Regulates presynaptic nerve terminal activity (By similarity). Enhances androgen receptor (AR)- mediated transcription (PubMed:16027218). May act as a proapoptotic protein that induces cell death by acting through the intrinsic apoptosis pathway (PubMed:1100780... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-2818
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)