HSP90B1
Heat Shock Protein 90 Beta Family Member 1 (Endoplasmin)
Gene Information Card
| Symbol | HSP90B1 |
|---|---|
| Full Name | Heat Shock Protein 90 Beta Family Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q23.3 |
| NCBI Gene ID | 7184 ncbi.nlm.nih.gov/gene/7184 |
| Ensembl ID | ENSG00000166598 |
| UniProt ID | P14625 |
| OMIM ID | 191175 |
| HGNC ID | 12028 |
| Aliases | GRP94, TRA1, endoplasmin, gp96 |
Description
HSP90B1 encodes endoplasmin (GRP94), a member of the heat shock protein 90 family localized in the endoplasmic reticulum. It functions as a molecular chaperone involved in protein folding, quality control, and the unfolded protein response. GRP94 is essential for the maturation and transport of secreted and membrane proteins, including toll-like receptors and integrins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression of GRP94 promotes tumor cell survival under ER stress and hypoxia; facilitates immune evasion | ClinVar, COSMIC |
| Inflammatory bowel disease | GRP94 variants may alter ER stress response in intestinal epithelium | ClinVar |
| Hereditary sensory and autonomic neuropathy | Missense mutations impair chaperone function leading to neuronal ER stress | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 48.2 | High |
| Pancreas | 35.1 | High |
| Kidney | 28.7 | High |
| Heart | 22.5 | Medium |
| Brain | 12.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 62.4 | Cervical cancer cell line |
| HepG2 | 55.8 | Hepatocellular carcinoma |
| A549 | 41.2 | Lung adenocarcinoma |
| MCF7 | 38.9 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2023G>A (p.Gly675Arg) | Missense | <0.1% | Impaired chaperone activity; associated with neuropathy |
| c.1661C>T (p.Thr554Met) | Missense | <0.1% | Reduced protein stability |
| c.1129A>G (p.Asn377Asp) | Missense | <0.1% | Altered ATPase domain |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the ATPase domain reduce chaperone activity and protein folding capacity.
Gain of Function (GOF)
Not well documented; overexpression in tumors may confer gain-of-function by enhancing survival signaling.
Dominant Negative (DN)
Not reported for HSP90B1.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • chaperone binding |
| • protein folding | • unfolded protein binding |
| • endoplasmic reticulum lumen | • response to endoplasmic reticulum stress |
Pathways
• Unfolded protein response (UPR)
• ER-phagosome pathway
• Toll-like receptor signaling
Protein Summary
Endoplasmin (GRP94) is a 94 kDa ER-resident chaperone that binds ATP and assists in the folding and assembly of nascent proteins, particularly those destined for secretion or membrane insertion. It plays a critical role in ER stress adaptation and immune modulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSP90B1 Knockout HEK293 Cell Line | EDJ-KQ199 | Human | 7184 | Details Get a Quote |
| HSP90B1 Knockout A-549 Cell Line | EDJ-KQ19540 | Human | 7184 | Details Get a Quote |
| HSP90B1 Knockout HCT 116 Cell Line | EDJ-KQ19541 | Human | 7184 | Details Get a Quote |
| HSP90B1 Knockout HeLa Cell Line | EDJ-KQ19542 | Human | 7184 | Details Get a Quote |
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