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FLASH GENE

Symbol

HSPB3

contributors: npt/ - updated : 23-08-2007

HGNC name	heat shock 27kDa protein 3
HGNC id	5248

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HMN2C neuropathy, distal hereditary motor, type IIC
Location	5q11.2      Physical location : 53.751.444 - 53.752.207
Synonym name	heat shock 17 kDa protein
Synonym symbol(s)	HSPL27, HSPBL4, HSB3

DNA

TYPE	functioning gene
STRUCTURE	0.76 kb     1 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006308 1 - 764 NP_006299 - 150 - -

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth       Muscular striatum cardiac

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminus involved in multimerization
	a C terminus lacking extension

HOMOLOGY

interspecies

homolog to murine Hspb3

Homologene

FAMILY

small heat shock (HSP20) family

CATEGORY

chaperone/stress

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	inhibitor of actin polymerization
	plays an important role in motor neuron viability (Kolb 2010)

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

complexing with HSPB2 during myogenic differentiation, but biochemical properties of the HSPB2/B3 complex are distinctly different from those of other small heat-shock proteins, indicating that the HSPB2/B3 assembly is likely to possess cellular functions other than those of its family members

INTERACTION

DNA

RNA

small molecule

protein

complexing with HSPBP2 during myogenic differentiation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HMN2C

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS