Q12988 (HSPB3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	HSPB3
Synonyms:	HSP27, HSPL27

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	150 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Inhibitor of actin polymerization.
Subcellular location	Cytoplasm. Nucleus. Note: Translocates to nuclear foci during heat shock. Ref.4
Involvement in disease	Defects in HSPB3 are the cause of distal hereditary motor neuronopathy type 2C (HMN2C) [MIM:613376]. It is 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. Ref.5
Sequence similarities	Belongs to the small heat shock protein (HSP20) family.

Ontologies

Keywords
Biological process	Stress response
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Polymorphism
Disease	Disease mutation Neurodegeneration
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cell death Inferred from electronic annotation. Source: UniProtKB-KW response to unfolded protein Traceable author statement. Source: ProtInc
Cellular component	cytoplasm Inferred from direct assay Ref.4. Source: UniProtKB nucleus Inferred from direct assay Ref.4. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 150	150	Heat shock protein beta-3		PRO_0000125936
Natural variations
	Natural variant	7	1	R → S in HMN2C. Ref.5		VAR_063773
	Natural variant	67	1	G → S. Corresponds to variant rs35258119 [ dbSNP | Ensembl ].		VAR_061271

Sequences

	Sequence		Length	Mass (Da)
	Q12988 [UniParc]. Last modified May 1, 1999. Version 2. Checksum: CE5A4DF34CD38715	FASTA	150	16,966
	10 20 30 40 50 60 MAKIILRHLI EIPVRYQEEF EARGLEDCRL DHALYALPGP TIVDLRKTRA AQSPPVDSAA 70 80 90 100 110 120 ETPPREGKSH FQILLDVVQF LPEDIIIQTF EGWLLIKAQH GTRMDEHGFI SRSFTRQYKL 130 140 150 PDGVEIKDLS AVLCHDGILV VEVKDPVGTK

References

[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: 9858786] [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: 8972725] [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: 19464326] [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: 20142617] [Abstract] Cited for: VARIANT HMN2C SER-7.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U15590 mRNA. Translation: AAD05360.1. Y17782 mRNA. Translation: CAA76848.1.
IPI	IPI00030405.
RefSeq	NP_006299.1. NM_006308.2.
UniGene	Hs.41707.
3D structure databases
ProteinModelPortal	Q12988.
SMR	Q12988. Positions 62-150.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q12988. 17 interactions.
MINT	MINT-1367935.
STRING	Q12988.
Polymorphism databases
DMDM	6016270.
Proteomic databases
PRIDE	Q12988.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000302005; ENSP00000303394; ENSG00000169271.
GeneID	8988.
KEGG	hsa:8988.
UCSC	uc003jph.1. human.
Organism-specific databases
CTD	8988.
GeneCards	GC05P053787.
H-InvDB	HIX0032082.
HGNC	HGNC:5248. HSPB3.
MIM	604624. gene. 613376. phenotype.
neXtProt	NX_Q12988.
Orphanet	139525. Distal hereditary motor neuropathy type 2.
PharmGKB	PA29513.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG13698.
HOGENOM	HBG446446.
HOVERGEN	HBG052039.
InParanoid	Q12988.
OMA	ETPVRYQ.
OrthoDB	EOG4H72CW.
PhylomeDB	Q12988.
Gene expression databases
ArrayExpress	Q12988.
Bgee	Q12988.
CleanEx	HS_HSPB3.
Genevestigator	Q12988.
GermOnline	ENSG00000169271. Homo sapiens.
Family and domain databases
InterPro	IPR001436. Alpha-crystallin/HSP. IPR002068. Hsp20. IPR008978. HSP20-like_chaperone. [Graphical view]
KO	K09544.
Pfam	PF00011. HSP20. 1 hit. [Graphical view]
PIRSF	PIRSF036514. Sm_HSP_B1. 1 hit.
PRINTS	PR00299. ACRYSTALLIN.
SUPFAM	SSF49764. HSP20_chap. 1 hit.
PROSITE	PS01031. HSP20. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	33707.
SOURCE	Search...

Entry information

Entry name

HSPB3_HUMAN

Accession

Primary (citable) accession number: Q12988

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	May 1, 1999
Last modified:	January 25, 2012
This is version 81 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.