HSPB1_HUMAN
Source:
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
HSPB1
, HSP27, HSP28
Protein names and data:
HSPB1_HUMAN
, Heat shock protein beta-1; HspB1
, 28 kDa heat shock protein; Estrogen-regulated 24 kDa protein; Heat shock 27 kDa protein; HSP 27; Stress-responsive protein 27; SRP27
Lenght: 205 a.a.
Mass: 22783 Da
fasta formatted sequence
Function:
Involved in stress resistance and actin organization.
Disease:
( OMIM:
602195
606595
608634
)
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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
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.
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.
Genetic variants
127 - 127
R -> W (in HMN2B). VAR_018506
135 - 135
S -> F (in CMT2F and HMN2B). VAR_018507
136 - 136
R -> W (in CMT2F). VAR_018508
151 - 151
T -> I (in HMN2B). VAR_018509
164 - 164
T -> A (in CMT2F). VAR_067085
182 - 182
P -> L (in HMN2B). VAR_018510
Database cross-references
UniProt:
P04792
Ensembl:
ENST00000248553
MIM:
602195
MIM:
606595
MIM:
608634
neXtProt:
NX_P04792
Antibodypedia:
P04792
(may not find the protein thus also not any antibody)
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