InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HSPB8

Summary

InnateDB Protein

IDBP-59914.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HSPB8

Protein Name

heat shock 22kDa protein 8

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000281938

InnateDB Gene

IDBG-59912 (HSPB8)

Protein Structure

UniProt Annotation

Function

Displays temperature-dependent chaperone activity.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:19464326}. Nucleus {ECO:0000269PubMed:19464326}. Note=Translocates to nuclear foci during heat shock.

Disease Associations

Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590]: 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:15122253}. Note=The disease is caused by mutations affecting the gene represented in this entry.Charcot-Marie-Tooth disease 2L (CMT2L) [MIM:608673]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269PubMed:15565283}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Predominantly expressed in skeletal muscle and heart. {ECO:0000269PubMed:11470154}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	19 [view]
Protein-Protein	19 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0042802	identical protein binding

Biological Process

GO:0006950	response to stress
GO:0008150	biological_process
GO:0008219	cell death

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005737	cytoplasm

Protein Structure and Domains

PDB ID

InterPro

IPR001436 Alpha crystallin/Heat shock protein
IPR002068 Alpha crystallin/Hsp20 domain
IPR008978 HSP20-like chaperone

PFAM

PF00011

PRINTS

PR00299

PIRSF

PIRSF036514

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9UJY1

PhosphoSite

PhosphoSite-Q9UJY1

TrEMBL

UniProt Splice Variant

Entrez Gene

26353

UniGene

Hs.400095

RefSeq

NP_055180

HUGO

HGNC:30171

OMIM

608014

CCDS

CCDS9189

HPRD

06420

IMGT

EMBL

AF133207 AF191017 AF217987 AF250138 AK312501 AL136936 BC002673 BT006876 CH471054 CR533453

GenPept

AAD55359 AAF09481 AAF65562 AAG17230 AAH02673 AAP35522 BAG35403 CAB66870 CAG38484 EAW98144