Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Heat shock protein beta-3

Gene

HSPB3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Inhibitor of actin polymerization.

GO - Biological processi

  • response to unfolded protein Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Stress response

Names & Taxonomyi

Protein namesi
Recommended name:
Heat shock protein beta-3
Short name:
HspB3
Alternative name(s):
Heat shock 17 kDa protein
Short name:
HSP 17
Protein 3
Gene namesi
Name:HSPB3
Synonyms:HSP27, HSPL27
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:5248. HSPB3.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Neuronopathy, distal hereditary motor, 2C (HMN2C)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613376
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti7 – 71R → S in HMN2C. 1 Publication
Corresponds to variant rs139382018 [ dbSNP | Ensembl ].
VAR_063773

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

MalaCardsiHSPB3.
MIMi613376. phenotype.
Orphaneti139525. Distal hereditary motor neuropathy type 2.
PharmGKBiPA29513.

Polymorphism and mutation databases

BioMutaiHSPB3.
DMDMi6016270.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 150150Heat shock protein beta-3PRO_0000125936Add
BLAST

Proteomic databases

PaxDbiQ12988.
PeptideAtlasiQ12988.
PRIDEiQ12988.

PTM databases

iPTMnetiQ12988.

Expressioni

Gene expression databases

BgeeiQ12988.
CleanExiHS_HSPB3.
ExpressionAtlasiQ12988. baseline and differential.
GenevisibleiQ12988. HS.

Interactioni

Protein-protein interaction databases

BioGridi114470. 17 interactions.
IntActiQ12988. 18 interactions.
MINTiMINT-1367935.
STRINGi9606.ENSP00000303394.

Structurei

3D structure databases

ProteinModelPortaliQ12988.
SMRiQ12988. Positions 65-139.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the small heat shock protein (HSP20) family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3591. Eukaryota.
ENOG410YERS. LUCA.
HOGENOMiHOG000286024.
HOVERGENiHBG052039.
InParanoidiQ12988.
KOiK09544.
OMAiFCHDGIL.
OrthoDBiEOG7WHHBK.
PhylomeDBiQ12988.
TreeFamiTF105049.

Family and domain databases

InterProiIPR002068. A-crystallin/Hsp20_dom.
IPR001436. Alpha-crystallin/HSP.
IPR031107. HSP20.
IPR008978. HSP20-like_chaperone.
[Graphical view]
PANTHERiPTHR11527. PTHR11527. 1 hit.
PfamiPF00011. HSP20. 1 hit.
[Graphical view]
PRINTSiPR00299. ACRYSTALLIN.
SUPFAMiSSF49764. SSF49764. 1 hit.
PROSITEiPS01031. HSP20. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q12988-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAKIILRHLI EIPVRYQEEF EARGLEDCRL DHALYALPGP TIVDLRKTRA
60 70 80 90 100
AQSPPVDSAA ETPPREGKSH FQILLDVVQF LPEDIIIQTF EGWLLIKAQH
110 120 130 140 150
GTRMDEHGFI SRSFTRQYKL PDGVEIKDLS AVLCHDGILV VEVKDPVGTK
Length:150
Mass (Da):16,966
Last modified:May 1, 1999 - v2
Checksum:iCE5A4DF34CD38715
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti7 – 71R → S in HMN2C. 1 Publication
Corresponds to variant rs139382018 [ dbSNP | Ensembl ].
VAR_063773
Natural varianti67 – 671G → S.
Corresponds to variant rs35258119 [ dbSNP | Ensembl ].
VAR_061271

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U15590 mRNA. Translation: AAD05360.1.
Y17782 mRNA. Translation: CAA76848.1.
CCDSiCCDS3961.1.
RefSeqiNP_006299.1. NM_006308.2.
UniGeneiHs.41707.

Genome annotation databases

EnsembliENST00000302005; ENSP00000303394; ENSG00000169271.
GeneIDi8988.
KEGGihsa:8988.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U15590 mRNA. Translation: AAD05360.1.
Y17782 mRNA. Translation: CAA76848.1.
CCDSiCCDS3961.1.
RefSeqiNP_006299.1. NM_006308.2.
UniGeneiHs.41707.

3D structure databases

ProteinModelPortaliQ12988.
SMRiQ12988. Positions 65-139.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114470. 17 interactions.
IntActiQ12988. 18 interactions.
MINTiMINT-1367935.
STRINGi9606.ENSP00000303394.

PTM databases

iPTMnetiQ12988.

Polymorphism and mutation databases

BioMutaiHSPB3.
DMDMi6016270.

Proteomic databases

PaxDbiQ12988.
PeptideAtlasiQ12988.
PRIDEiQ12988.

Protocols and materials databases

DNASUi8988.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302005; ENSP00000303394; ENSG00000169271.
GeneIDi8988.
KEGGihsa:8988.

Organism-specific databases

CTDi8988.
GeneCardsiHSPB3.
HGNCiHGNC:5248. HSPB3.
MalaCardsiHSPB3.
MIMi604624. gene.
613376. phenotype.
neXtProtiNX_Q12988.
Orphaneti139525. Distal hereditary motor neuropathy type 2.
PharmGKBiPA29513.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3591. Eukaryota.
ENOG410YERS. LUCA.
HOGENOMiHOG000286024.
HOVERGENiHBG052039.
InParanoidiQ12988.
KOiK09544.
OMAiFCHDGIL.
OrthoDBiEOG7WHHBK.
PhylomeDBiQ12988.
TreeFamiTF105049.

Miscellaneous databases

GenomeRNAii8988.
PROiQ12988.
SOURCEiSearch...

Gene expression databases

BgeeiQ12988.
CleanExiHS_HSPB3.
ExpressionAtlasiQ12988. baseline and differential.
GenevisibleiQ12988. HS.

Family and domain databases

InterProiIPR002068. A-crystallin/Hsp20_dom.
IPR001436. Alpha-crystallin/HSP.
IPR031107. HSP20.
IPR008978. HSP20-like_chaperone.
[Graphical view]
PANTHERiPTHR11527. PTHR11527. 1 hit.
PfamiPF00011. HSP20. 1 hit.
[Graphical view]
PRINTSiPR00299. ACRYSTALLIN.
SUPFAMiSSF49764. SSF49764. 1 hit.
PROSITEiPS01031. HSP20. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "HspB3, the most deviating of the six known human small heat shock proteins."
    Boelens W.C., van Boekel M.A., de Jong W.W.
    Biochim. Biophys. Acta 1388:513-516(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Heart.
  2. "Isolation and characterization of a human heart cDNA encoding a new member of the small heat shock protein family -- HSPL27."
    Lam W.Y., Wing Tsui S.K.W., Law P.T.W., Luk S.C., Fung K.P., Lee C.Y., Waye M.M.Y.
    Biochim. Biophys. Acta 1314:120-124(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Heart.
  3. Waye M.M.Y.
    Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  4. "HSPB7 is a SC35 speckle resident small heat shock protein."
    Vos M.J., Kanon B., Kampinga H.H.
    Biochim. Biophys. Acta 1793:1343-1353(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  5. "Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach."
    Kolb S.J., Snyder P.J., Poi E.J., Renard E.A., Bartlett A., Gu S., Sutton S., Arnold W.D., Freimer M.L., Lawson V.H., Kissel J.T., Prior T.W.
    Neurology 74:502-506(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HMN2C SER-7.

Entry informationi

Entry nameiHSPB3_HUMAN
AccessioniPrimary (citable) accession number: Q12988
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: May 1, 1999
Last modified: July 6, 2016
This is version 116 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.