InnateDB Protein
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IDBP-20635.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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HSPB3
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Protein Name
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heat shock 27kDa protein 3
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Synonyms
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DHMN2C; HMN2C; HSPL27;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000303394
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InnateDB Gene
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IDBG-20633 (HSPB3)
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Protein Structure
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Function |
Inhibitor of actin polymerization.
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:19464326}. Nucleus {ECO:0000269PubMed:19464326}. Note=Translocates to nuclear foci during heat shock.
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Disease Associations |
Neuronopathy, distal hereditary motor, 2C (HMN2C) [MIM:613376]: 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. {ECO:0000269PubMed:20142617}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
18
[view]
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Protein-Protein |
18
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001436
Alpha crystallin/Heat shock protein
IPR002068
Alpha crystallin/Hsp20 domain
IPR008978
HSP20-like chaperone
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PFAM |
PF00011
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PRINTS |
PR00299
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PIRSF |
PIRSF036514
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q12988
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PhosphoSite |
PhosphoSite-Q12988
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TrEMBL |
Q6ICS9
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UniProt Splice Variant |
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Entrez Gene |
8988
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UniGene |
Hs.732700
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RefSeq |
NP_006299
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HUGO |
HGNC:5248
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OMIM |
604624
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CCDS |
CCDS3961
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HPRD |
06861
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IMGT |
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EMBL |
AK314215
BC126272
BC132869
CH471123
CR450314
U15590
Y17782
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GenPept |
AAD05360
AAI26273
AAI32870
BAG36889
CAA76848
CAG29310
EAW54893
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