HAPSTR1
HAPSTR1: A Stress-Response Gene Encoding the HUWE1-Associated Protein Required for Stress Responses
Gene Information Card
| Symbol | HAPSTR1 |
|---|---|
| Full Name | HUWE1 Associated Protein Required for Stress Responses 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q9H0C8 |
| OMIM ID | 618820 |
| HGNC ID | 24279 |
| Aliases | C16orf72, HSPC300, MGC8721 |
Description
HAPSTR1 (HUWE1 Associated Protein Required for Stress Responses 1) is a protein-coding gene located on chromosome 16p13.3. It encodes a small protein that plays a critical role in cellular stress responses by interacting with the E3 ubiquitin ligase HUWE1. HAPSTR1 is involved in maintaining protein homeostasis and protecting cells from proteotoxic stress. The gene is widely expressed in various tissues and has been implicated in cancer and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and seizures | Loss-of-function mutations in HAPSTR1 impair stress response pathways, leading to neuronal dysfunction | ClinVar; OMIM |
| Colorectal cancer | Overexpression of HAPSTR1 may promote tumorigenesis through dysregulation of HUWE1-mediated ubiquitination | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.7 | Low |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.5 | High expression |
| HeLa | 9.8 | Moderate expression |
| HCT116 | 7.3 | Moderate expression |
| SH-SY5Y | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.148C>T (p.Arg50*) | Nonsense | <0.01% | Premature stop, loss of function |
| c.200_201del (p.Glu67fs) | Frameshift | <0.01% | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in HAPSTR1 lead to truncated or absent protein, impairing stress response and HUWE1 interaction.
Gain of Function (GOF)
No gain-of-function mutations have been reported for HAPSTR1.
Dominant Negative (DN)
No dominant-negative mutations have been described for HAPSTR1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • ubiquitin protein ligase binding |
| • cellular response to stress | • protein ubiquitination |
| • cytoplasm |
Pathways
• HUWE1-mediated ubiquitination pathway
• Cellular response to proteotoxic stress
Protein Summary
The HAPSTR1 protein is a small, 73-amino-acid polypeptide that localizes to the cytoplasm. It directly binds to the HECT domain of the E3 ubiquitin ligase HUWE1, modulating its activity. HAPSTR1 is essential for the cellular response to heat shock and other proteotoxic stresses, promoting cell survival under stress conditions. Its dysregulation is linked to cancer and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HAPSTR1 Knockout HEK293 Cell Line | EDJ-KQ13723 | Human | 29035 | Details Get a Quote |
| HAPSTR1 Knockout A-549 Cell Line | EDJ-KQ43468 | Human | 29035 | Details Get a Quote |
| HAPSTR1 Knockout HCT 116 Cell Line | EDJ-KQ43469 | Human | 29035 | Details Get a Quote |
| HAPSTR1 Knockout HeLa Cell Line | EDJ-KQ43470 | Human | 29035 | Details Get a Quote |
