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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

Keywordsi

Biological processStress 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

EuPathDBiHostDB:ENSG00000169271.2.
HGNCiHGNC:5248. HSPB3.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_0637737R → S in HMN2C. 1 PublicationCorresponds to variant dbSNP:rs139382018Ensembl.1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNETi8988.
MalaCardsiHSPB3.
MIMi613376. phenotype.
OpenTargetsiENSG00000169271.
Orphaneti139525. Distal hereditary motor neuropathy type 2.
PharmGKBiPA29513.

Polymorphism and mutation databases

BioMutaiHSPB3.
DMDMi6016270.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001259361 – 150Heat shock protein beta-3Add BLAST150

Proteomic databases

PaxDbiQ12988.
PeptideAtlasiQ12988.
PRIDEiQ12988.

PTM databases

iPTMnetiQ12988.
PhosphoSitePlusiQ12988.

Expressioni

Gene expression databases

BgeeiENSG00000169271.
CleanExiHS_HSPB3.
ExpressionAtlasiQ12988. baseline and differential.
GenevisibleiQ12988. HS.

Organism-specific databases

HPAiHPA062124.

Interactioni

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliQ12988.
SMRiQ12988.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini47 – 150sHSPPROSITE-ProRule annotationAdd BLAST104

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG3591. Eukaryota.
ENOG410YERS. LUCA.
GeneTreeiENSGT00760000119238.
HOGENOMiHOG000286024.
HOVERGENiHBG052039.
InParanoidiQ12988.
KOiK09544.
OMAiFCHDGIL.
OrthoDBiEOG091G0USC.
PhylomeDBiQ12988.
TreeFamiTF105049.

Family and domain databases

CDDicd06477. ACD_HspB3_Like. 1 hit.
Gene3Di2.60.40.790. 1 hit.
InterProiView protein in InterPro
IPR002068. A-crystallin/Hsp20_dom.
IPR001436. Alpha-crystallin/HSP.
IPR031107. HSP20.
IPR008978. HSP20-like_chaperone.
IPR033894. HSPB3.
PANTHERiPTHR11527. PTHR11527. 1 hit.
PTHR11527:SF29. PTHR11527:SF29. 1 hit.
PfamiView protein in Pfam
PF00011. HSP20. 1 hit.
PRINTSiPR00299. ACRYSTALLIN.
SUPFAMiSSF49764. SSF49764. 1 hit.
PROSITEiView protein in PROSITE
PS01031. SHSP. 1 hit.

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_0637737R → S in HMN2C. 1 PublicationCorresponds to variant dbSNP:rs139382018Ensembl.1
Natural variantiVAR_06127167G → S. Corresponds to variant dbSNP:rs35258119Ensembl.1

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

Similar proteinsi

Entry informationi

Entry nameiHSPB3_HUMAN
AccessioniPrimary (citable) accession number: Q12988
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: May 1, 1999
Last modified: November 22, 2017
This is version 125 of the entry and version 2 of the sequence. See 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