HSP90B1

Gene Information
 
Gene Symbol
HSP90B1
 
Aliases
ECGP, GP96, GRP94, HEL-S-125m, HEL35, TRA1
 
Entrez Gene ID
 
Gene Name
Heat shock protein 90 beta family member 1
 
Chromosomal Location
12q23.3
 
HGNC ID
 
Summary
This gene encodes a member of a family of adenosine triphosphate(ATP)-metabolizing molecular chaperones with roles in stabilizing and folding other proteins. The encoded protein is localized to melanosomes and the endoplasmic reticulum. Expression of this protein is associated with a variety of pathogenic states, including tumor formation. There is a microRNA gene located within the 5' exon of this gene. There are pseudogenes for this gene on chromosomes 1 and 15. [provided by RefSeq, Aug 2012]
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0001666 Biological process Response to hypoxia IDA 15620698
GO:0006457 Biological process Protein folding IBA 21873635
GO:0015031 Biological process Protein transport NAS 15845869
GO:0030433 Biological process Ubiquitin-dependent ERAD pathway IBA 21873635
GO:0030433 Biological process Ubiquitin-dependent ERAD pathway IMP 18264092
Protein Information
 
Protein Name
Endoplasmin, 94 kDa glucose-regulated protein, endothelial cell (HBMEC) glycoprotein, epididymis luminal protein 35, epididymis secretory sperm binding protein Li 125m, heat shock protein 90 kDa beta member 1, heat shock protein 90kDa beta (Grp94), member 1, heat shock protein 90kDa beta family member 1, stress-inducible tumor rejection antigen gp96, tumor rejection antigen (gp96) 1, tumor rejection antigen 1
 
Function
Molecular chaperone that functions in the processing and transport of secreted proteins (By similarity). When associated with CNPY3, required for proper folding of Toll-like receptors (By similarity). Functions in endoplasmic reticulum associated degradation (ERAD) (PubMed:18264092). Has ATPase activity (By similarity).
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF02518 HATPase_c
PF00183 HSP90
Pathways
 
KEGG
 
Reactome
 

Protein processing in endoplasmic reticulum
PI3K-Akt signaling pathway
IL-17 signaling pathway
Estrogen signaling pathway
Thyroid hormone synthesis
Pathways in cancer
Prostate cancer
Fluid shear stress and atherosclerosis

 

Trafficking and processing of endosomal TLR
Scavenging by Class A Receptors
ATF6 (ATF6-alpha) activates chaperone genes
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Interleukin-4 and Interleukin-13 signaling
Post-translational protein phosphorylation

Interactions
 
STRING MINT IntAct
ENSP00000303231 P29459
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Endocrine System Diseases
PCOS
Neoplasms
Prostate cancer
Psychiatric/Brain disorders
Bipolar Disorder
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
PCNA, CALM1, ANXA6, TPM2, STAT3, ERK 1/2, MCP1, GABARAP 
PCOS, anovulation, hyperandrogenism  
 
National Institutes of Health and the European Society for Human Reproduction and Embryology/American Society of Reproductive Medicine 
Related 
10 PCOS women and 10 control women 
HSP90B1 and CALM1 are increased, but ANXA6 and TPM2 are decreased, in the ovarian tissues of patients with PCOS. The altered gene expression profile observed in patient with PCOS, particularly that of HSP90B1, has a significant impact on ovarian cell survival and proliferation in patients with PCOS. 

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