Gene Gene information from NCBI Gene database.
Entrez ID 3315
Gene name Heat shock protein family B (small) member 1
Gene symbol HSPB1
Synonyms (NCBI Gene)
CMT2FHEL-S-102HMN2BHMND3HS.76067HSP27HSP28Hsp25SRP27
Chromosome 7
Chromosome location 7q11.23
Summary This gene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and functions as a molecular chaperone that promotes the correct
SNPs SNP information provided by dbSNP.
30
SNP ID Visualize variation Clinical significance Consequence
rs1049324 G>A,T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs28937568 C>G,T Pathogenic Missense variant, coding sequence variant
rs28937569 C>T Pathogenic Missense variant, coding sequence variant
rs28939680 C>A,G,T Pathogenic, uncertain-significance Missense variant, coding sequence variant
rs28939681 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
102
miRTarBase ID miRNA Experiments Reference
MIRT1056380 hsa-miR-1273g CLIP-seq
MIRT1056381 hsa-miR-1908 CLIP-seq
MIRT1056382 hsa-miR-1909 CLIP-seq
MIRT1056383 hsa-miR-214 CLIP-seq
MIRT1056384 hsa-miR-3133 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
ESR1 Activation 10960840
STAT3 Activation 14715258
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
64
GO ID Ontology Definition Evidence Reference
GO:0000502 Component Proteasome complex ISS
GO:0001533 Component Cornified envelope IEA
GO:0001932 Process Regulation of protein phosphorylation IMP 23728742
GO:0003723 Function RNA binding HDA 22658674
GO:0005080 Function Protein kinase C binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602195 5246 ENSG00000106211
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04792
Protein name Heat shock protein beta-1 (HspB1) (28 kDa heat shock protein) (Estrogen-regulated 24 kDa protein) (Heat shock 27 kDa protein) (HSP 27) (Heat shock protein family B member 1) (Stress-responsive protein 27) (SRP27)
Protein function Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding-competent state (PubMed:10383393, PubMed:20178975). Plays a role in stress resistance and actin organization (PubMed:19166925)
PDB 2N3J , 3Q9P , 3Q9Q , 4MJH , 6DV5 , 6GJH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00011 HSP20 87 184 Hsp20/alpha crystallin family Family
Tissue specificity TISSUE SPECIFICITY: Detected in all tissues tested: skeletal muscle, heart, aorta, large intestine, small intestine, stomach, esophagus, bladder, adrenal gland, thyroid, pancreas, testis, adipose tissue, kidney, liver, spleen, cerebral cortex, blood serum
Sequence
MTERRVPFSLLRGPSWDPFRDWYPHSRLFDQAFGLPRLPEEWSQWLGGSSWPGYVRPLPP
AAIESPAVAAPAYSRALSRQLSSGVSEIRHTADRWRVSLDVNHFAPDELTVKTKDGVVEI
TGKHEERQDEHGYISRCFTRKYTLPPGVDPTQVSSSLSPEGTLTVEAPMPKLATQSNEIT
IPVT
FESRAQLGGPEAAKSDETAAK
Sequence length 205
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
VEGF signaling pathway
Amoebiasis
  VEGFA-VEGFR2 Pathway
AUF1 (hnRNP D0) binds and destabilizes mRNA
MAPK6/MAPK4 signaling
Extra-nuclear estrogen signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
467
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Charcot-Marie-Tooth disease Likely pathogenic; Pathogenic rs587781250, rs863225022, rs863225023, rs770272088, rs28939680, rs28937568, rs121909112, rs1422978230, rs557327165, rs1583964560, rs1240900244, rs1583966508 RCV000144874
RCV000789060
RCV000857186
RCV000789334
RCV000789332
RCV001174177
RCV001174175
RCV000789962
RCV000789058
RCV000789965
RCV000789964
RCV000789713
RCV000789059
RCV000789963
RCV000789331
Charcot-Marie-Tooth disease axonal type 2F Likely pathogenic; Pathogenic rs587781250, rs2536149513, rs2536151779, rs863225022, rs863225023, rs770272088, rs28939680, rs29001571, rs28937568, rs28937569, rs28939681, rs104894020, rs121909112, rs557327165, rs1060503021
View all (8 more)
RCV001048111
RCV002631139
RCV002889821
RCV000201072
RCV000201127
RCV000204495
RCV000007904
RCV000007907
RCV000809687
RCV005089204
RCV000007910
RCV000809907
RCV000688660
RCV003617756
RCV000468008
RCV001242069
RCV001383411
RCV000809593
RCV000820858
RCV000535288
RCV000641079
RCV000641078
RCV000684870
RCV001873176
RCV003992393
RCV003507314
RCV002549107
RCV001217374
RCV001227212
Distal hereditary motor neuropathy type 2 Likely pathogenic; Pathogenic rs770272088 RCV003993892
Distal spinal muscular atrophy Likely pathogenic; Pathogenic rs770272088 RCV005868108
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Uncertain significance rs1449874513 RCV005931647
Charcot-Marie-Tooth disease dominant intermediate C Conflicting classifications of pathogenicity rs768456339 RCV001535458
Charcot-Marie-Tooth disease type 2 Uncertain significance rs537392004 RCV000307724
Charcot-Marie-Tooth disease type 4 Conflicting classifications of pathogenicity; Uncertain significance rs200902768, rs1583965825 RCV000857185
RCV000857184
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 28275270
Adenocarcinoma Inhibit 10027336, 25230790
Adenocarcinoma Associate 15882177, 21966358, 22911792, 37010714
Adenocarcinoma of Lung Associate 21858536
Adenoma Pleomorphic Inhibit 25230790
Alcoholic Neuropathy Associate 33973728
Alopecia Associate 35545365
Alzheimer Disease Associate 25332170, 35276041, 37010714, 37735671, 38554950
Amyotrophic Lateral Sclerosis Associate 27492805
Amyotrophic lateral sclerosis 1 Associate 19335999