InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HSPB1

Summary

InnateDB Protein

IDBP-23060.6

Last Modified

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

Gene Symbol

HSPB1

Protein Name

heat shock 27kDa protein 1

Synonyms

CMT2F; HEL-S-102; HMN2B; HS.76067; Hsp25; HSP27; HSP28; SRP27;

Species

Homo sapiens

Ensembl Protein

ENSP00000248553

InnateDB Gene

IDBG-23058 (HSPB1)

Protein Structure

UniProt Annotation

Function

Involved in stress resistance and actin organization.

Subcellular Localization

Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, spindle. Note=Cytoplasmic in interphase cells. Colocalizes with mitotic spindles in mitotic cells. Translocates to the nucleus during heat shock and resides in sub-nuclear structures known as SC35 speckles or nuclear splicing speckles.

Disease Associations

Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595]: A dominant 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. Onset of Charcot-Marie-Tooth disease type 2F is between 15 and 25 years with muscle weakness and atrophy usually beginning in feet and legs (peroneal distribution). Upper limb involvement occurs later. {ECO:0000269PubMed:15122254, ECO:0000269PubMed:22206013}. Note=The disease is caused by mutations affecting the gene represented in this entry.Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]: 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:15122254}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in all tissues tested: skeletal muscle, heart, aorta, large intestine, small intestine, stomach, esophagus, bladder, adrenal gland, thyroid, pancreas, testis, adipose tissue, kidney, liver, spleen, cerebral cortex, blood serum and cerebrospinal fluid. Highest levels are found in the heart and in tissues composed of striated and smooth muscle. {ECO:0000269PubMed:1560006}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 372 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Experimentally validated
Total	372 [view]
Protein-Protein	372 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	8 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005080	protein kinase C binding
GO:0005515	protein binding
GO:0008426	protein kinase C inhibitor activity
GO:0019901	protein kinase binding
GO:0042802	identical protein binding
GO:0043130	ubiquitin binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0001895	retina homeostasis
GO:0006446	regulation of translational initiation
GO:0006469	negative regulation of protein kinase activity
GO:0006928	cellular component movement
GO:0006986	response to unfolded protein
GO:0008219	cell death
GO:0009615	response to virus
GO:0010467	gene expression
GO:0016070	RNA metabolic process
GO:0016071	mRNA metabolic process
GO:0032731	positive regulation of interleukin-1 beta production
GO:0035556	intracellular signal transduction
GO:0035924	cellular response to vascular endothelial growth factor stimulus
GO:0038033	positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway
GO:0042535	positive regulation of tumor necrosis factor biosynthetic process
GO:0043066	negative regulation of apoptotic process
GO:0043122	regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043536	positive regulation of blood vessel endothelial cell migration
GO:0045766	positive regulation of angiogenesis
GO:0071901	negative regulation of protein serine/threonine kinase activity
GO:1902176	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway
GO:2001028	positive regulation of endothelial cell chemotaxis
GO:2001234	negative regulation of apoptotic signaling pathway

Cellular Component

GO:0000502	proteasome complex
GO:0005615	extracellular space
GO:0005622	intracellular
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005819	spindle
GO:0005829	cytosol
GO:0005856	cytoskeleton
GO:0005886	plasma membrane
GO:0030018	Z disc
GO:0043292	contractile fiber
GO:0070062	extracellular vesicular exosome