HSPA4L
Heat Shock Protein Family A (Hsp70) Member 4 Like
Gene Information Card
| Symbol | HSPA4L |
|---|---|
| Full Name | Heat Shock Protein Family A (Hsp70) Member 4 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 4q28.1 |
| NCBI Gene ID | 22824 ncbi.nlm.nih.gov/gene/22824 |
| Ensembl ID | ENSG00000164070 |
| UniProt ID | O95757 |
| OMIM ID | 601113 |
| HGNC ID | 5238 |
| Aliases | HSPH3, Osp94, APG-1 |
Description
HSPA4L encodes a member of the Hsp70 family of heat shock proteins. This protein functions as a molecular chaperone, assisting in protein folding, assembly, and transport under normal and stress conditions. It is involved in the cellular response to heat shock and other proteotoxic stresses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Overexpression may promote tumor cell survival under stress | COSMIC |
| Neurodegenerative disorders | Chaperone dysfunction may contribute to protein aggregation | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | High expression |
| HEK293 | 9.8 | Moderate expression |
| K562 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.1% | Unknown functional impact |
| c.567delA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely cause loss of chaperone activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • protein folding |
| • chaperone | • response to heat |
| • cytosol |
Pathways
• Protein processing in endoplasmic reticulum
• Heat shock response
Protein Summary
HSPA4L is a 941-amino acid protein with a molecular weight of approximately 104 kDa. It contains an N-terminal ATPase domain and a C-terminal peptide-binding domain, characteristic of Hsp70 chaperones. It is induced by heat shock and other stresses, and plays a role in protecting cells from protein aggregation and apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSPA4L Knockout HEK293 Cell Line | EDJ-KQ12195 | Human | 22824 | Details Get a Quote |
| HSPA4L Knockout A-549 Cell Line | EDJ-KQ40919 | Human | 22824 | Details Get a Quote |
| HSPA4L Knockout HCT 116 Cell Line | EDJ-KQ40920 | Human | 22824 | Details Get a Quote |
| HSPA4L Knockout HeLa Cell Line | EDJ-KQ39681 | Human | 22824 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
