HIP1R Gene - Huntingtin Interacting Protein 1 Related
Comprehensive genomic and functional analysis of HIP1R, a key regulator of clathrin-mediated endocytosis and tumor suppression.
Gene Information Card
| Symbol | HIP1R |
|---|---|
| Full Name | Huntingtin Interacting Protein 1 Related |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 9026 ncbi.nlm.nih.gov/gene/9026 |
| Ensembl ID | ENSG00000130726 |
| UniProt ID | O75146 |
| OMIM ID | 605613 |
| HGNC ID | 18415 |
| Aliases | HIP3, HIP12, IL14 |
Description
HIP1R (Huntingtin Interacting Protein 1 Related) encodes a protein involved in clathrin-mediated endocytosis and intracellular trafficking. It interacts with huntingtin (HTT) and functions as a tumor suppressor in various cancers, including prostate and breast cancer. The gene is located on chromosome 12q24.31 and is widely expressed in normal tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Loss of HIP1R expression promotes androgen receptor signaling and tumor progression | PMID: 23542345 |
| Breast cancer | Reduced HIP1R levels correlate with poor prognosis and increased metastasis | PMID: 25609832 |
| Colorectal cancer | HIP1R downregulation associated with Wnt/β-catenin pathway activation | PMID: 27323850 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 15.2 | Medium |
| Testis | 22.8 | High |
| Prostate | 18.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.7 | Cervical cancer cell line |
| MCF7 | 9.2 | Breast cancer cell line |
| PC3 | 5.1 | Prostate cancer cell line |
| A549 | 11.3 | Lung cancer cell line |
| HEK293 | 16.8 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.2% | p.Arg412Cys; potential loss of function |
| c.567_568del | Frameshift | 0.1% | p.Glu189fs; truncation |
| c.2101G>A | Nonsense | 0.05% | p.Trp701*; premature stop |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in HIP1R lead to truncated protein and loss of endocytic function, contributing to tumor progression.
Gain of Function (GOF)
No gain-of-function mutations have been reported for HIP1R.
Dominant Negative (DN)
Missense mutations in the clathrin-binding domain may exert dominant-negative effects by disrupting endocytosis.
View complete mutation data：
Gene Ontology (GO)
| • GO:0006897 - endocytosis | • GO:0030136 - clathrin-coated vesicle |
| • GO:0005515 - protein binding | • GO:0048471 - perinuclear region of cytoplasm |
| • GO:0005886 - plasma membrane |
Pathways
• Clathrin-mediated endocytosis (KEGG hsa04144)
• Huntington disease (KEGG hsa05016)
Protein Summary
HIP1R is a 1068-amino acid protein that contains an ANTH domain, a coiled-coil region, and a clathrin-binding motif. It localizes to clathrin-coated pits and vesicles, facilitating receptor internalization and signal attenuation. The protein also interacts with huntingtin and may modulate neuronal function. Loss of HIP1R is implicated in oncogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HIP1R Knockout HEK293 Cell Line | EDJ-KQ5753 | Human | 9026 | 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 |
| HIP1R Knockout HeLa Cell Line | EDJ-KQ30498 | Human | 9026 | Details Get a Quote |
| HIP1R Knockout HAP1 Cell Line | EDC08157 | Human | 9026 | Details Get a Quote |
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