HSPB3
entrez
8988
canonical
uniprot
Q12988
canonical
ensembl
ENSG00000169271
resolver
ensp
ENSP00000303394
resolver
enst
ENST00000302005
resolver
genesymbol
HSPB3
resolver
genesymbol_syn
HSP27
resolver
genesymbol_syn
HSPL27
resolver
hgnc
HGNC:5248
resolver
uniprot
Q6ICS9
resolver
uniprot_entry
HSPB3_HUMAN
resolver
uniprot_entry
Q6ICS9_HUMAN
resolver
amino_acid_sequence
MAKIILRHLIEIPVRYQEEFEARGLEDCRLDHALYALPGPTIVDLRKTRAAQSPPVDSAAETPPREGKSHFQILLDVVQFLPEDIIIQTFEGWLLIKAQHGTRMDEHGFISRSFTRQYKLPDGVEIKDLSAVLCHDGILVVEVKDPVGTK
uniprot
proteins
disease_involvement
DISEASE: Neuronopathy, distal hereditary motor, autosomal dominant 4 (HMND4) [MIM:613376]: A form of distal hereditary motor neuronopathy, 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. {ECO:0000269|PubMed:20142617}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Inhibitor of actin polymerization.
uniprot
proteins
mass_dalton
16966
uniprot
proteins
protein_family
Small heat shock protein (HSP20) family
uniprot
proteins
pubmed
19464326
uniprot
proteins
pubmed
20142617
uniprot
proteins
pubmed
8972725
uniprot
proteins
pubmed
9858786
uniprot
proteins
sequence_length
150
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19464326}. Nucleus {ECO:0000269|PubMed:19464326}. Note=Translocates to nuclear foci during heat shock.
uniprot
proteins