HSPB3_HUMAN
ID HSPB3_HUMAN Reviewed; 150 AA.
AC Q12988;
DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-1999, sequence version 2.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Heat shock protein beta-3;
DE Short=HspB3;
DE AltName: Full=Heat shock 17 kDa protein;
DE Short=HSP 17;
DE AltName: Full=Protein 3;
GN Name=HSPB3; Synonyms=HSP27, HSPL27;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Heart;
RX PubMed=9858786; DOI=10.1016/s0167-4838(98)00215-5;
RA Boelens W.C., van Boekel M.A., de Jong W.W.;
RT "HspB3, the most deviating of the six known human small heat shock
RT proteins.";
RL Biochim. Biophys. Acta 1388:513-516(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Heart;
RX PubMed=8972725; DOI=10.1016/s0167-4889(96)00121-8;
RA Lam W.Y., Wing Tsui S.K.W., Law P.T.W., Luk S.C., Fung K.P., Lee C.Y.,
RA Waye M.M.Y.;
RT "Isolation and characterization of a human heart cDNA encoding a new member
RT of the small heat shock protein family -- HSPL27.";
RL Biochim. Biophys. Acta 1314:120-124(1996).
RN [3]
RP SEQUENCE REVISION.
RA Waye M.M.Y.;
RL Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP SUBCELLULAR LOCATION.
RX PubMed=19464326; DOI=10.1016/j.bbamcr.2009.05.005;
RA Vos M.J., Kanon B., Kampinga H.H.;
RT "HSPB7 is a SC35 speckle resident small heat shock protein.";
RL Biochim. Biophys. Acta 1793:1343-1353(2009).
RN [5]
RP VARIANT HMN2C SER-7.
RX PubMed=20142617; DOI=10.1212/wnl.0b013e3181cef84a;
RA Kolb S.J., Snyder P.J., Poi E.J., Renard E.A., Bartlett A., Gu S.,
RA Sutton S., Arnold W.D., Freimer M.L., Lawson V.H., Kissel J.T., Prior T.W.;
RT "Mutant small heat shock protein B3 causes motor neuropathy: utility of a
RT candidate gene approach.";
RL Neurology 74:502-506(2010).
CC -!- FUNCTION: Inhibitor of actin polymerization.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19464326}. Nucleus
CC {ECO:0000269|PubMed:19464326}. Note=Translocates to nuclear foci during
CC heat shock.
CC -!- DISEASE: Neuronopathy, distal hereditary motor, 2C (HMN2C)
CC [MIM:613376]: A neuromuscular disorder. Distal hereditary motor
CC neuronopathies constitute a heterogeneous group of neuromuscular
CC disorders caused by selective degeneration of motor neurons in the
CC anterior horn of the spinal cord, without sensory deficit in the
CC posterior horn. The overall clinical picture consists of a classical
CC distal muscular atrophy syndrome in the legs without clinical sensory
CC loss. The disease starts with weakness and wasting of distal muscles of
CC the anterior tibial and peroneal compartments of the legs. Later on,
CC weakness and atrophy may expand to the proximal muscles of the lower
CC limbs and/or to the distal upper limbs. {ECO:0000269|PubMed:20142617}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- SIMILARITY: Belongs to the small heat shock protein (HSP20) family.
CC {ECO:0000255|PROSITE-ProRule:PRU00285}.
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DR EMBL; U15590; AAD05360.1; -; mRNA.
DR EMBL; Y17782; CAA76848.1; -; mRNA.
DR CCDS; CCDS3961.1; -.
DR RefSeq; NP_006299.1; NM_006308.2.
DR PDB; 6F2R; X-ray; 3.90 A; Q/T/V=1-149.
DR PDBsum; 6F2R; -.
DR AlphaFoldDB; Q12988; -.
DR SMR; Q12988; -.
DR BioGRID; 114470; 19.
DR IntAct; Q12988; 19.
DR STRING; 9606.ENSP00000303394; -.
DR iPTMnet; Q12988; -.
DR PhosphoSitePlus; Q12988; -.
DR BioMuta; HSPB3; -.
DR DMDM; 6016270; -.
DR MassIVE; Q12988; -.
DR PaxDb; Q12988; -.
DR PeptideAtlas; Q12988; -.
DR PRIDE; Q12988; -.
DR ProteomicsDB; 59085; -.
DR Antibodypedia; 23356; 50 antibodies from 14 providers.
DR DNASU; 8988; -.
DR Ensembl; ENST00000302005.3; ENSP00000303394.1; ENSG00000169271.3.
DR GeneID; 8988; -.
DR KEGG; hsa:8988; -.
DR MANE-Select; ENST00000302005.3; ENSP00000303394.1; NM_006308.3; NP_006299.1.
DR CTD; 8988; -.
DR DisGeNET; 8988; -.
DR GeneCards; HSPB3; -.
DR GeneReviews; HSPB3; -.
DR HGNC; HGNC:5248; HSPB3.
DR HPA; ENSG00000169271; Group enriched (heart muscle, skeletal muscle, tongue).
DR MalaCards; HSPB3; -.
DR MIM; 604624; gene.
DR MIM; 613376; phenotype.
DR neXtProt; NX_Q12988; -.
DR OpenTargets; ENSG00000169271; -.
DR Orphanet; 139525; Distal hereditary motor neuropathy type 2.
DR PharmGKB; PA29513; -.
DR VEuPathDB; HostDB:ENSG00000169271; -.
DR eggNOG; KOG3591; Eukaryota.
DR GeneTree; ENSGT00940000161247; -.
DR HOGENOM; CLU_151649_0_0_1; -.
DR InParanoid; Q12988; -.
DR OMA; HGPRMDE; -.
DR OrthoDB; 1187096at2759; -.
DR PhylomeDB; Q12988; -.
DR TreeFam; TF105049; -.
DR PathwayCommons; Q12988; -.
DR SignaLink; Q12988; -.
DR BioGRID-ORCS; 8988; 11 hits in 1077 CRISPR screens.
DR GenomeRNAi; 8988; -.
DR Pharos; Q12988; Tbio.
DR PRO; PR:Q12988; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q12988; protein.
DR Bgee; ENSG00000169271; Expressed in heart right ventricle and 125 other tissues.
DR ExpressionAtlas; Q12988; baseline and differential.
DR Genevisible; Q12988; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0016607; C:nuclear speck; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0006986; P:response to unfolded protein; TAS:ProtInc.
DR CDD; cd06477; ACD_HspB3_Like; 1.
DR Gene3D; 2.60.40.790; -; 1.
DR InterPro; IPR002068; A-crystallin/Hsp20_dom.
DR InterPro; IPR001436; Alpha-crystallin/sHSP_animal.
DR InterPro; IPR008978; HSP20-like_chaperone.
DR InterPro; IPR033894; HSPB3.
DR PANTHER; PTHR47097; PTHR47097; 1.
DR Pfam; PF00011; HSP20; 1.
DR PRINTS; PR00299; ACRYSTALLIN.
DR SUPFAM; SSF49764; SSF49764; 1.
DR PROSITE; PS01031; SHSP; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Cytoplasm; Disease variant; Neurodegeneration; Neuropathy;
KW Nucleus; Reference proteome; Stress response.
FT CHAIN 1..150
FT /note="Heat shock protein beta-3"
FT /id="PRO_0000125936"
FT DOMAIN 47..150
FT /note="sHSP"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00285"
FT VARIANT 7
FT /note="R -> S (in HMN2C; dbSNP:rs139382018)"
FT /evidence="ECO:0000269|PubMed:20142617"
FT /id="VAR_063773"
FT VARIANT 67
FT /note="G -> S (in dbSNP:rs35258119)"
FT /id="VAR_061271"
SQ SEQUENCE 150 AA; 16966 MW; CE5A4DF34CD38715 CRC64;
MAKIILRHLI EIPVRYQEEF EARGLEDCRL DHALYALPGP TIVDLRKTRA AQSPPVDSAA
ETPPREGKSH FQILLDVVQF LPEDIIIQTF EGWLLIKAQH GTRMDEHGFI SRSFTRQYKL
PDGVEIKDLS AVLCHDGILV VEVKDPVGTK
