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Aliases for HSPB1 Gene

Aliases for HSPB1 Gene

  • Heat Shock Protein Family B (Small) Member 1 2 3 5
  • Estrogen-Regulated 24 KDa Protein 3 4
  • Stress-Responsive Protein 27 3 4
  • Heat Shock 27kDa Protein 1 2 3
  • Heat Shock 27kD Protein 1 2 3
  • Heat Shock 27 KDa Protein 3 4
  • 28 KDa Heat Shock Protein 3 4
  • HSP27 3 4
  • HSP28 3 4
  • SRP27 3 4
  • Epididymis Secretory Protein Li 102 3
  • HEL-S-102 3
  • HS.76067 3
  • HSP 27 4
  • CMT2F 3
  • HMN2B 3
  • Hsp25 3
  • HspB1 4

External Ids for HSPB1 Gene

Previous GeneCards Identifiers for HSPB1 Gene

  • GC07P074467
  • GC07P075530
  • GC07P075544
  • GC07P075576
  • GC07P075769
  • GC07P075931
  • GC07P071018

Summaries for HSPB1 Gene

Entrez Gene Summary for HSPB1 Gene

  • The protein encoded by this gene is induced by environmental stress and developmental changes. The encoded protein is involved in stress resistance and actin organization and translocates from the cytoplasm to the nucleus upon stress induction. Defects in this gene are a cause of Charcot-Marie-Tooth disease type 2F (CMT2F) and distal hereditary motor neuropathy (dHMN). [provided by RefSeq, Oct 2008]

GeneCards Summary for HSPB1 Gene

HSPB1 (Heat Shock Protein Family B (Small) Member 1) is a Protein Coding gene. Diseases associated with HSPB1 include Neuropathy, Distal Hereditary Motor, Type Iib and Charcot-Marie-Tooth Disease, Axonal, Type 2F. Among its related pathways are Interleukin-3, 5 and GM-CSF signaling and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and protein kinase binding. An important paralog of this gene is HSPB6.

UniProtKB/Swiss-Prot for HSPB1 Gene

  • Involved in stress resistance and actin organization.

Gene Wiki entry for HSPB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSPB1 Gene

Genomics for HSPB1 Gene

Regulatory Elements for HSPB1 Gene

Enhancers for HSPB1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HSPB1 on UCSC Golden Path with GeneCards custom track

Promoters for HSPB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HSPB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HSPB1 Gene

Chromosome:
7
Start:
76,302,544 bp from pter
End:
76,304,297 bp from pter
Size:
1,754 bases
Orientation:
Plus strand

Genomic View for HSPB1 Gene

Genes around HSPB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSPB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSPB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSPB1 Gene

Proteins for HSPB1 Gene

  • Protein details for HSPB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04792-HSPB1_HUMAN
    Recommended name:
    Heat shock protein beta-1
    Protein Accession:
    P04792
    Secondary Accessions:
    • B2R4N8
    • Q6FI47
    • Q96C20
    • Q96EI7
    • Q9UC31
    • Q9UC34
    • Q9UC35
    • Q9UC36

    Protein attributes for HSPB1 Gene

    Size:
    205 amino acids
    Molecular mass:
    22783 Da
    Quaternary structure:
    • Interacts with TGFB1I1 (By similarity). Associates with alpha- and beta-tubulin, microtubules and CRYAB. Interacts with HSPB8 and HSPBAP1.
    SequenceCaution:
    • Sequence=AAA62175.1; Type=Frameshift; Positions=194; Evidence={ECO:0000305}; Sequence=AAB20722.1; Type=Frameshift; Positions=194; Evidence={ECO:0000305}; Sequence=CAA34498.1; Type=Frameshift; Positions=194; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HSPB1 Gene

neXtProt entry for HSPB1 Gene

Proteomics data for HSPB1 Gene at MOPED

Post-translational modifications for HSPB1 Gene

  • Phosphorylated in MCF-7 cells on exposure to protein kinase C activators and heat shock.
  • Phosphorylation by MAPKAPK2 and MAPKAPK3 in response to stress leads to dissociate HSP27/HSPB1 from large small heat-shock protein (sHsps) oligomers and impair its chaperone activity and ability to protect against oxidative stress effectively. Phosphorylation by MAPKAPK5 in response to PKA stimulation induces F-actin rearrangement.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSPB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Assay Products

  • Cloud-Clone Corp Assay Kits for HSPB1

No data available for DME Specific Peptides for HSPB1 Gene

Domains & Families for HSPB1 Gene

Gene Families for HSPB1 Gene

Protein Domains for HSPB1 Gene

Suggested Antigen Peptide Sequences for HSPB1 Gene

Graphical View of Domain Structure for InterPro Entry

P04792

UniProtKB/Swiss-Prot:

HSPB1_HUMAN :
  • Belongs to the small heat shock protein (HSP20) family.
Family:
  • Belongs to the small heat shock protein (HSP20) family.
genes like me logo Genes that share domains with HSPB1: view

Function for HSPB1 Gene

Molecular function for HSPB1 Gene

GENATLAS Biochemistry:
heat shock protein 1,estrogen receptor related
UniProtKB/Swiss-Prot Function:
Involved in stress resistance and actin organization.
UniProtKB/Swiss-Prot Induction:
Expressed in response to environmental stresses such as heat shock, or estrogen stimulation in MCF-7 cells. Up-regulated in response to enterovirus 71 (EV71) infection (at protein level).
genes like me logo Genes that share phenotypes with HSPB1: view

Human Phenotype Ontology for HSPB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HSPB1 Gene

MGI Knock Outs for HSPB1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for HSPB1 Gene

Localization for HSPB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSPB1 Gene

Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, spindle. Note=Cytoplasmic in interphase cells. Colocalizes with mitotic spindles in mitotic cells. Translocates to the nucleus during heat shock and resides in sub-nuclear structures known as SC35 speckles or nuclear splicing speckles.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HSPB1 Gene COMPARTMENTS Subcellular localization image for HSPB1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 5
plasma membrane 4
mitochondrion 3
endoplasmic reticulum 2
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for HSPB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005737 cytoplasm IEA,TAS 16130169
genes like me logo Genes that share ontologies with HSPB1: view

Pathways & Interactions for HSPB1 Gene

genes like me logo Genes that share pathways with HSPB1: view

SIGNOR curated interactions for HSPB1 Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for HSPB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006446 regulation of translational initiation TAS 10859165
GO:0006986 response to unfolded protein NAS 1560006
GO:0035924 cellular response to vascular endothelial growth factor stimulus IMP 18440775
GO:0042535 positive regulation of tumor necrosis factor biosynthetic process IEA,ISS --
GO:0043066 negative regulation of apoptotic process TAS 16130169
genes like me logo Genes that share ontologies with HSPB1: view

Drugs & Compounds for HSPB1 Gene

(76) Drugs for HSPB1 Gene - From: DrugBank, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Geldanamycin Experimental Pharma Hsp90 inhibitor,potent and specific, Selective Hsp90 inhibitor 0
OGX-427 Investigational Pharma Inhibition, antisense, Target 0
AT13387 Pharma Hsp90 inhibitor 0
BIIB021 Pharma Hsp90 inhibitor,selective and competitive 0
CH5138303 Pharma 0

(54) Additional Compounds for HSPB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(8) ApexBio Compounds for HSPB1 Gene

Compound Action Cas Number
AT13387 Hsp90 inhibitor 912999-49-6
BIIB021 Hsp90 inhibitor,selective and competitive 848695-25-0
CH5138303 959763-06-5
Geldanamycin Hsp90 inhibitor,potent and specific 30562-34-6
HSP990 (NVP-HSP990) 934343-74-5
NMS-E973 Hsp90 inhibitor,potent and selective 1253584-84-7
VER-49009 558640-51-0
VER-50589 747413-08-7
genes like me logo Genes that share compounds with HSPB1: view

Transcripts for HSPB1 Gene

mRNA/cDNA for HSPB1 Gene

Unigene Clusters for HSPB1 Gene

Heat shock 27kDa protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HSPB1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c
SP1: - -
SP2:
SP3:

Relevant External Links for HSPB1 Gene

GeneLoc Exon Structure for
HSPB1
ECgene alternative splicing isoforms for
HSPB1

Expression for HSPB1 Gene

mRNA expression in normal human tissues for HSPB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HSPB1 Gene

This gene is overexpressed in Esophagus - Mucosa (x4.9).

Protein differential expression in normal tissues from HIPED for HSPB1 Gene

This gene is overexpressed in Bone (12.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HSPB1 Gene



SOURCE GeneReport for Unigene cluster for HSPB1 Gene Hs.520973

mRNA Expression by UniProt/SwissProt for HSPB1 Gene

P04792-HSPB1_HUMAN
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 and cerebrospinal fluid. Highest levels are found in the heart and in tissues composed of striated and smooth muscle.
genes like me logo Genes that share expression patterns with HSPB1: view

Protein tissue co-expression partners for HSPB1 Gene

Primer Products

Orthologs for HSPB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HSPB1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HSPB1 35
  • 88.27 (n)
  • 89.8 (a)
HSPB1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSPB1 35
  • 86.5 (n)
  • 86.34 (a)
HSPB1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hspb1 35
  • 84.07 (n)
  • 84.88 (a)
Hspb1 16
Hspb1 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HSPB1 35
  • 99.84 (n)
  • 100 (a)
HSPB1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hspb1 35
  • 81.57 (n)
  • 83.42 (a)
oppossum
(Monodelphis domestica)
Mammalia HSPB1 36
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSPB1 35
  • 74.47 (n)
  • 69.15 (a)
HSPB1 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hspb1 35
  • 66.99 (n)
  • 71.08 (a)
zebrafish
(Danio rerio)
Actinopterygii hspb1 35
  • 65.93 (n)
  • 68.33 (a)
idibd2821 35
hspb1 36
  • 61 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.195 36
  • 36 (a)
OneToMany
Species with no ortholog for HSPB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HSPB1 Gene

ENSEMBL:
Gene Tree for HSPB1 (if available)
TreeFam:
Gene Tree for HSPB1 (if available)

Paralogs for HSPB1 Gene

(4) SIMAP similar genes for HSPB1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for HSPB1 Gene

genes like me logo Genes that share paralogs with HSPB1: view

Variants for HSPB1 Gene

Sequence variations from dbSNP and Humsavar for HSPB1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_018506 Neuronopathy, distal hereditary motor, 2B (HMN2B)
VAR_018507 Charcot-Marie-Tooth disease 2F (CMT2F)
VAR_018507 Neuronopathy, distal hereditary motor, 2B (HMN2B)
VAR_018508 Charcot-Marie-Tooth disease 2F (CMT2F)
VAR_018509 Neuronopathy, distal hereditary motor, 2B (HMN2B)

Structural Variations from Database of Genomic Variants (DGV) for HSPB1 Gene

Variant ID Type Subtype PubMed ID
nsv528969 CNV Gain 19592680
essv14753 CNV CNV 17122850
dgv120n16 CNV Deletion 17901297
dgv2104e1 CNV Complex 17122850
nsv888387 CNV Loss 21882294
nsv519194 CNV Loss 19592680
esv2422494 CNV Duplication 17116639
nsv5796 CNV Insertion 18451855

Variation tolerance for HSPB1 Gene

Residual Variation Intolerance Score: 28.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HSPB1 Gene

Human Gene Mutation Database (HGMD)
HSPB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSPB1 Gene

Disorders for HSPB1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for HSPB1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neuropathy, distal hereditary motor, type iib
  • distal hereditary motor neuronopathy, type iib
charcot-marie-tooth disease, axonal, type 2f
  • charcot-marie-tooth neuropathy type 2f
autosomal dominant charcot-marie-tooth disease type 2f
  • cmt2f
distal hereditary motor neuropathy, type ii
  • spinal muscular atrophy, jerash type
charcot-marie-tooth disease
  • dejerine-sottas disease
- elite association - COSMIC cancer census association via MalaCards
Search HSPB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HSPB1_HUMAN
  • Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Onset of Charcot-Marie-Tooth disease type 2F is between 15 and 25 years with muscle weakness and atrophy usually beginning in feet and legs (peroneal distribution). Upper limb involvement occurs later. {ECO:0000269 PubMed:15122254, ECO:0000269 PubMed:22206013}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. {ECO:0000269 PubMed:15122254}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HSPB1

Genetic Association Database (GAD)
HSPB1
Human Genome Epidemiology (HuGE) Navigator
HSPB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSPB1
genes like me logo Genes that share disorders with HSPB1: view

No data available for Genatlas for HSPB1 Gene

Publications for HSPB1 Gene

  1. cDNA sequence of a human heat shock protein HSP27. (PMID: 2243808) Carper S.W. … Storm F.K. (Nucleic Acids Res. 1990) 2 3 4 67
  2. Heat shock protein 27 is over-expressed in tumor tissues and increased in sera of patients with gastric adenocarcinoma. (PMID: 19961396) Huang Q. … Lin X. (Clin. Chem. Lab. Med. 2010) 3 23
  3. miR-17-5p Promotes migration of human hepatocellular carcinoma cells through the p38 mitogen-activated protein kinase-heat shock protein 27 pathway. (PMID: 20209605) Yang F. … Sun S. (Hepatology 2010) 3 23
  4. HSP27 regulates IL-1 stimulated IKK activation through interacting with TRAF6 and affecting its ubiquitination. (PMID: 18950704) Wu Y. … Yin Z. (Cell. Signal. 2009) 3 23
  5. Heat shock protein 27 modification is increased in the human diabetic failing heart. (PMID: 19384818) Gawlowski T. … Milting H. (Horm. Metab. Res. 2009) 3 23

Products for HSPB1 Gene

Sources for HSPB1 Gene

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