HSPA1L
Heat Shock Protein Family A (Hsp70) Member 1 Like
Gene Information Card
| Symbol | HSPA1L |
|---|---|
| Full Name | Heat Shock Protein Family A (Hsp70) Member 1 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 3305 ncbi.nlm.nih.gov/gene/3305 |
| Ensembl ID | ENSG00000204388 |
| UniProt ID | P34931 |
| OMIM ID | 140550 |
| HGNC ID | 5233 |
| Aliases | HSP70-HOM, HSP70T, HSP70-1L, HSP70T1 |
Description
HSPA1L encodes a member of the heat shock protein 70 (Hsp70) family, which functions as a molecular chaperone involved in protein folding, stress response, and protection against apoptosis. This gene is located in the major histocompatibility complex (MHC) class III region on chromosome 6 and is constitutively expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid Arthritis | HSPA1L polymorphisms may alter chaperone function and immune response, contributing to autoimmune susceptibility. | OMIM 140550; NCBI Gene |
| Type 1 Diabetes | Variants in HSPA1L are associated with altered heat shock protein expression, potentially affecting beta-cell survival and autoimmunity. | OMIM 140550; NCBI Gene |
| Cancer (various) | Differential expression of HSPA1L in tumors may influence cell survival under stress; mutations are rare. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.8 | Moderate expression |
| K562 | 7.4 | Low expression |
| A549 | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.113G>A (p.Arg38Gln) | Missense | <0.01% | Unknown functional impact; rare in population databases |
| c.527C>T (p.Thr176Met) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in HSPA1L.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • unfolded protein binding (GO:0051082) |
| • protein folding (GO:0006457) | • response to heat (GO:0009408) |
| • cellular response to heat (GO:0034605) | • protein refolding (GO:0042026) |
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• Antigen processing and presentation (KEGG: hsa04612)
• Heat shock response (Reactome: R-HSA-3371556)
Protein Summary
HSPA1L is a 70 kDa heat shock protein (Hsp70) family member encoded by a gene in the MHC class III region. It functions as an ATP-dependent molecular chaperone, assisting in protein folding, preventing aggregation, and facilitating protein transport under stress conditions. Constitutively expressed in many tissues, it plays roles in immune modulation and cytoprotection.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSPA1L Knockout HEK293 Cell Line | EDJ-KQ671 | Human | 3305 | Details Get a Quote |
| HSPA1L Knockout A-549 Cell Line | EDJ-KQ19201 | Human | 3305 | Details Get a Quote |
| HSPA1L Knockout HeLa Cell Line | EDJ-KQ19202 | Human | 3305 | Details Get a Quote |
| HSPA1L Knockout HCT 116 Cell Line | EDJ-KQ70529 | Human | 3305 | Details Get a Quote |
