HIP1 |
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
Related Links:
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)