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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
  • Heat Shock Protein Beta-1 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

  • 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 folding of other proteins. This protein plays an important role in the differentiation of a wide variety of cell types. Expression of this gene is correlated with poor clinical outcome in multiple human cancers, and the encoded protein may promote cancer cell proliferation and metastasis, while protecting cancer cells from apoptosis. Mutations in this gene have been identified in human patients with Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. [provided by RefSeq, Aug 2017]

CIViC summary for HSPB1 Gene

GeneCards Summary for HSPB1 Gene

HSPB1 (Heat Shock Protein Family B (Small) Member 1) is a Protein Coding gene. Diseases associated with HSPB1 include Charcot-Marie-Tooth Disease, Axonal, Type 2F and Neuropathy, Distal Hereditary Motor, Type Iib. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and RET signaling. GO annotations related to this gene include poly(A) RNA binding and protein kinase binding. An important paralog of this gene is HSPB8.

UniProtKB/Swiss-Prot for HSPB1 Gene

  • 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). Through its molecular chaperone activity may regulate numerous biological processes including the phosphorylation and the axonal transport of neurofilament proteins (PubMed:23728742).

Gene Wiki entry for HSPB1 Gene

Additional gene information 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H076337 1.2 Ensembl ENCODE dbSUPER 12.7 +35.6 35642 2 ZNF362 CEBPB FEZF1 EBF1 PRDM6 ZNF366 POLR2A ZNF629 ZSCAN5C FOS HSPB1 SRRM3 PIR61421 GC07M076330 YWHAG
GH07H076321 1.1 Ensembl ENCODE dbSUPER 12.9 +21.1 21054 3 FOXA2 HLF FOSL1 ZNF121 POLR2A IKZF1 PRDM10 RUNX3 MAFK SUPT5H POMZP3 HSPB1 SRRM3 SSC4D PIR61421 GC07M076330 GC07P076306
GH07H076267 0.9 Ensembl ENCODE 12.2 -34.9 -34913 1 MAZ SP3 L3MBTL2 ZBTB8A ZIC2 ZFHX2 GLIS2 EGR1 ZNF341 GLIS1 HSPB1 SRRM3 STYXL1 CCL24 POMZP3 GC07M076265 GC07P076289
GH07H076272 0.8 Ensembl dbSUPER 12.7 -29.4 -29377 0 HDGF SOX13 MCM3 EZH2 STAG3L1 HSPB1 PMS2P9 DTX2P1 SRRM3 PMS2P3 FAM185BP CCL24 GC07M076265 GC07P076289
GH07H076290 2 FANTOM5 Ensembl ENCODE dbSUPER 3.3 -8.0 -7990 8 HNRNPUL1 PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF548 STAG3L1 PMS2P3 FAM185BP POMZP3 DTX2P1 SRRM3 PMS2P9 DTX2 SPDYE18 ENSG00000250778
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000213898 756 1801 HDGF FOXA2 ARNT ARID4B SIN3A FEZF1 ZBTB7B YY1 SLC30A9 ZNF143

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:
    • Homooligomer (PubMed:10383393). Homodimer; becomes monomeric upon activation (PubMed:20178975). Heterooligomer; with HSPB6 (PubMed:23948568). Associates with alpha- and beta-tubulin (PubMed:10777697). Interacts with TGFB1I1 (By similarity). Interacts with CRYAB (PubMed:1560006). Interacts with HSPB8 (PubMed:11342557). Interacts with HSPBAP1 (PubMed:10751411).
    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

Post-translational modifications for HSPB1 Gene

  • Phosphorylated upon exposure to protein kinase C activators and heat shock (PubMed:8325890). Phosphorylation by MAPKAPK2 and MAPKAPK3 in response to stress dissociates HSPB1 from large small heat-shock protein (sHsps) oligomers and impairs its chaperone activity and ability to protect against oxidative stress effectively. Phosphorylation by MAPKAPK5 in response to PKA stimulation induces F-actin rearrangement (PubMed:1332886, PubMed:8093612, PubMed:19166925).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSPB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Assay Products

No data available for DME Specific Peptides for HSPB1 Gene

Domains & Families for HSPB1 Gene

Gene Families for HSPB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

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:
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). Through its molecular chaperone activity may regulate numerous biological processes including the phosphorylation and the axonal transport of neurofilament proteins (PubMed:23728742).
UniProtKB/Swiss-Prot Induction:
Up-regulated in response to environmental stresses such as heat shock (PubMed:8325890). Up-regulated by estrogen stimulation (PubMed:2743305).
UniProtKB/Swiss-Prot Induction:
(Microbial infection) Up-regulated in response to enterovirus 71 (EV71) infection (at protein level).

Phenotypes From GWAS Catalog for HSPB1 Gene

Gene Ontology (GO) - Molecular Function for HSPB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0005080 protein kinase C binding IEA,ISS --
GO:0005515 protein binding IPI 11003656
GO:0008426 protein kinase C inhibitor activity ISS,IEA --
GO:0019901 protein kinase binding IPI 8774846
genes like me logo Genes that share ontologies with HSPB1: view
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HSPB1
  • Applied Biological Materials Clones for HSPB1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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. {ECO:0000269 PubMed:19464326}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSPB1 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 4
mitochondrion 3
endoplasmic reticulum 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HSPB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex ISS --
GO:0005615 extracellular space IDA 22664934
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA,IDA 19464326
GO:0005737 cytoplasm 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:0001895 retina homeostasis IEP 23580065
GO:0001932 regulation of protein phosphorylation IMP 23728742
GO:0006446 regulation of translational initiation TAS 10859165
GO:0006469 negative regulation of protein kinase activity IEA,ISS --
GO:0006928 movement of cell or subcellular component TAS 16130169
genes like me logo Genes that share ontologies with HSPB1: view

Drugs & Compounds for HSPB1 Gene

(83) 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
Apatorsen Investigational Pharma Target 0
Phenethyl isothiocyanate Investigational Pharma Target 12
BIIB021 Investigational Pharma Hsp90 inhibitor,selective and competitive 0
AT13387 Pharma Hsp90 inhibitor 0

(49) 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

Drug Products

Transcripts for HSPB1 Gene

mRNA/cDNA for HSPB1 Gene

Unigene Clusters for HSPB1 Gene

Heat shock 27kDa protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HSPB1
  • Applied Biological Materials Clones for HSPB1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for HSPB1 Gene



Protein tissue co-expression partners for HSPB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of HSPB1 Gene:

HSPB1

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.

Evidence on tissue expression from TISSUES for HSPB1 Gene

  • Nervous system(5)
  • Lung(4.9)
  • Muscle(4.9)
  • Pancreas(4.9)
  • Skin(4.9)
  • Liver(4.7)
  • Eye(4.6)
  • Blood(4.5)
  • Intestine(4.5)
  • Heart(4.3)
  • Kidney(4.2)
  • Stomach(3.4)
  • Adrenal gland(2.7)
  • Lymph node(2.5)
  • Bone(2.3)
  • Spleen(2.2)
  • Bone marrow(2)
  • Gall bladder(2)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HSPB1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • head
Limb:
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with HSPB1: view

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
chimpanzee
(Pan troglodytes)
Mammalia HSPB1 33 34
  • 99.84 (n)
cow
(Bos Taurus)
Mammalia HSPB1 33 34
  • 88.27 (n)
dog
(Canis familiaris)
Mammalia HSPB1 33 34
  • 86.5 (n)
mouse
(Mus musculus)
Mammalia Hspb1 33 16 34
  • 84.07 (n)
rat
(Rattus norvegicus)
Mammalia Hspb1 33
  • 81.57 (n)
oppossum
(Monodelphis domestica)
Mammalia HSPB1 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSPB1 33 34
  • 74.47 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia hspb1 33
  • 66.99 (n)
zebrafish
(Danio rerio)
Actinopterygii hspb1 33 34
  • 65.93 (n)
idibd2821 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.195 34
  • 36 (a)
OneToMany
Species where no ortholog for HSPB1 was found in the sources mined by GeneCards:
  • 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
rs121909112 Pathogenic, Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634] 76,303,855(+) TCACG(C/G)GGAAA reference, missense
rs121909113 Likely pathogenic, Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634] 76,303,007(+) TGTCC(A/C)TGGAT reference, missense
rs28937568 Pathogenic, Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634] 76,304,007(+) CCCCA(C/G/T)CCAAG reference, missense
rs28937569 Pathogenic, Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634] 76,304,100(+) CATCC(C/T)AGTCA reference, missense
rs28939680 Pathogenic, Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595], Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634] 76,303,841(+) CATCT(C/T)CCGGT reference, missense

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

Variant ID Type Subtype PubMed ID
dgv120n16 CNV deletion 17901297
esv2422494 CNV duplication 17116639
nsv519194 CNV loss 19592680
nsv528969 CNV gain 19592680
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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSPB1

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

Disorders for HSPB1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, axonal, type 2f
  • charcot-marie-tooth disease axonal type 2f
neuropathy, distal hereditary motor, type iib
  • distal hereditary motor neuronopathy, type iib
charcot-marie-tooth disease type 2f
  • charcot-marie-tooth disease, axonal, type 2f
distal hereditary motor neuropathy, type ii
  • dsma2
charcot-marie-tooth disease
  • charcot marie tooth muscular atrophy
- 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:20178975, ECO:0000269 PubMed:22176143, ECO:0000269 PubMed:22206013, ECO:0000269 PubMed:23728742}. 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, ECO:0000269 PubMed:18832141, ECO:0000269 PubMed:18952241, ECO:0000269 PubMed:20178975, ECO:0000269 PubMed:20870250, ECO:0000269 PubMed:22176143, ECO:0000269 PubMed:23643870, ECO:0000269 PubMed:23728742, ECO:0000269 PubMed:23948568, ECO:0000269 PubMed:25965061, ECO:0000269 PubMed:28144995}. 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. PKA-induced F-actin rearrangement requires phosphorylation of Hsp27 by the MAPKAP kinase MK5. (PMID: 19166925) Kostenko S … Moens U (Cellular signalling 2009) 3 4 22 60
  2. Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. (PMID: 18832141) Houlden H … Reilly MM (Neurology 2008) 3 4 22 60
  3. HSP22, a new member of the small heat shock protein superfamily, interacts with mimic of phosphorylated HSP27 ((3D)HSP27). (PMID: 11342557) Benndorf R … Welsh MJ (The Journal of biological chemistry 2001) 3 4 22 60
  4. Small heat shock proteins are molecular chaperones. (PMID: 8093612) Jakob U … Buchner J (The Journal of biological chemistry 1993) 3 4 22 60
  5. Identification of MAPKAP kinase 2 as a major enzyme responsible for the phosphorylation of the small mammalian heat shock proteins. (PMID: 1332886) Stokoe D … Gaestel M (FEBS letters 1992) 3 4 22 60

Products for HSPB1 Gene

  • Addgene plasmids for HSPB1

Sources for HSPB1 Gene

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