Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3315
Gene name Gene Name - the full gene name approved by the HGNC.
Heat shock protein family B (small) member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HSPB1
Synonyms (NCBI Gene) Gene synonyms aliases
CMT2F, HEL-S-102, HMN2B, HMND3, HS.76067, HSP27, HSP28, Hsp25, SRP27
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q11.23
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
ESR1 Activation 10960840
STAT3 Activation 14715258
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602195 5246 ENSG00000106211
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease rs557327165, rs121909112, rs587781250, rs28937568, rs1583964560, rs28939680, rs863225022, rs1240900244, rs863225023, rs1422978230, rs1583966508, rs770272088 N/A
Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease axonal type 2F rs863225022, rs121909112, rs29001571, rs1060503021, rs28937568, rs766728475, rs587781250, rs1064796370, rs1064795077, rs28937569, rs1554614680, rs28939680, rs28939681, rs863225023, rs1422978230
View all (5 more)
N/A
Distal Hereditary Motor Neuronopathy distal hereditary motor neuropathy type 2, Neuronopathy, distal hereditary motor, type 2B rs770272088, rs28937568, rs557327165, rs121909113, rs1064796370, rs28937569, rs28939680, rs104894020, rs121909112, rs29001571 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Distal Spinal Muscular Atrophy distal spinal muscular atrophy N/A N/A ClinVar
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease 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