HIP1 (Huntingtin Interacting Protein 1)
A key regulator of clathrin-mediated endocytosis and apoptosis, implicated in Huntington disease and cancer.
Gene Information Card
| Symbol | HIP1 |
|---|---|
| Full Name | Huntingtin Interacting Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 3092 ncbi.nlm.nih.gov/gene/3092 |
| Ensembl ID | ENSG00000127946 |
| UniProt ID | O00291 |
| OMIM ID | 601767 |
| HGNC ID | 4913 |
| Aliases | HIP-I, ILWEQ, SHON |
Description
HIP1 (Huntingtin Interacting Protein 1) encodes a protein that interacts with huntingtin, clathrin, and adaptor protein complex 2 (AP-2). It plays a critical role in clathrin-mediated endocytosis, receptor trafficking, and apoptosis. HIP1 is involved in the pathogenesis of Huntington disease and is implicated in various cancers through its anti-apoptotic and endocytic functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Huntington Disease | HIP1 interacts with mutant huntingtin, contributing to altered endocytosis and neuronal toxicity. | OMIM #143100; NCBI Gene |
| Prostate Cancer | HIP1 overexpression promotes cell survival and proliferation via anti-apoptotic mechanisms. | COSMIC; PubMed |
| Colorectal Cancer | HIP1 upregulation is associated with poor prognosis and increased tumor growth. | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Prostate | 6.1 | Low |
| Colon | 5.4 | Low |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.8 | Moderate expression |
| MCF7 | 7.5 | Low expression |
| PC3 | 9.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation of C-terminal domain |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function; premature stop codon |
| c.890A>G (p.Asn297Ser) | Missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein lacking clathrin-binding domain.
Gain of Function (GOF)
Not well characterized; overexpression in cancer may confer gain-of-function anti-apoptotic effects.
Dominant Negative (DN)
Not reported for HIP1.
View complete mutation data：
Gene Ontology (GO)
| • clathrin binding | • protein homodimerization activity |
| • phospholipid binding | • clathrin-mediated endocytosis |
| • apoptotic process | • intracellular protein transport |
Pathways
• Clathrin-mediated endocytosis (Reactome: R-HSA-8856828)
• Huntington disease (KEGG: hsa05016)
Protein Summary
HIP1 is a 900-amino acid protein containing an N-terminal ANTH domain (AP180 N-terminal homology) that binds phosphoinositides, a central coiled-coil region mediating dimerization and huntingtin interaction, and a C-terminal clathrin/AP-2 binding domain. It localizes to clathrin-coated pits and vesicles, regulating endocytic trafficking. HIP1 also inhibits apoptosis by sequestering pro-apoptotic factors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| Kv4.3/KChIP1 Overexpression HEK293 Stable Cell Line | EDJ-GQ50 | Human | Details Get a Quote | |
| HIP1 Knockout HEK293 Cell Line | EDJ-KQ4867 | Human | 3092 | Details Get a Quote |
| HIP1R Knockout HEK293 Cell Line | EDJ-KQ5753 | Human | 9026 | Details Get a Quote |
| FHIP1A Knockout HEK293 Cell Line | EDJ-KQ13479 | Human | 729830 | Details Get a Quote |
| FHIP1B Knockout HEK293 Cell Line | EDJ-KQ13480 | Human | 84067 | Details Get a Quote |
| FHIP1A Knockout HCT 116 Cell Line | EDJ-KQ43071 | Human | 729830 | Details Get a Quote |
| FHIP1A Knockout HeLa Cell Line | EDJ-KQ43072 | Human | 729830 | Details Get a Quote |
| FHIP1B Knockout A-549 Cell Line | EDJ-KQ43073 | Human | 84067 | Details Get a Quote |
| FHIP1B Knockout HCT 116 Cell Line | EDJ-KQ43074 | Human | 84067 | Details Get a Quote |
| FHIP1B Knockout HeLa Cell Line | EDJ-KQ43075 | Human | 84067 | Details Get a Quote |
| HIP1 Knockout A-549 Cell Line | EDJ-KQ27645 | Human | 3092 | Details Get a Quote |
| HIP1 Knockout HCT 116 Cell Line | EDJ-KQ27646 | Human | 3092 | Details Get a Quote |
| HIP1 Knockout HeLa Cell Line | EDJ-KQ27647 | Human | 3092 | Details Get a Quote |
| HIP1R Knockout A-549 Cell Line | EDJ-KQ30495 | Human | 9026 | Details Get a Quote |
| HIP1R Knockout HCT 116 Cell Line | EDJ-KQ30497 | Human | 9026 | Details Get a Quote |
Displaying Records 1 To 15 Of 27 Records
