HSPB8
entrez
26353
canonical
uniprot
Q9UJY1
canonical
ensembl
ENSG00000152137
resolver
ensp
ENSP00000281938
resolver
enst
ENST00000281938
resolver
genesymbol
HSPB8
resolver
genesymbol_syn
CRYAC
resolver
genesymbol_syn
E2IG1
resolver
genesymbol_syn
HSP22
resolver
hgnc
HGNC:30171
resolver
uniprot
B2R6A6
resolver
uniprot
Q6FIH3
resolver
uniprot
Q9UKS3
resolver
uniprot_entry
HSPB8_HUMAN
resolver
uniprot_sec
B2R6A6
resolver
uniprot_sec
Q6FIH3
resolver
uniprot_sec
Q9UKS3
resolver
amino_acid_sequence
MADGQMPFSCHYPSRLRRDPFRDSPLSSRLLDDGFGMDPFPDDLTASWPDWALPRLSSAWPGTLRSGMVPRGPTATARFGVPAEGRTPPPFPGEPWKVCVNVHSFKPEELMVKTKDGYVEVSGKHEEKQQEGGIVSKNFTKKIQLPAEVDPVTVFASLSPEGLLIIEAPQVPPYSTFGESSFNNELPQDSQEVTCT
uniprot
proteins
disease_involvement
DISEASE: Neuronopathy, distal hereditary motor, autosomal dominant 2 (HMND2) [MIM:158590]: 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:15122253, ECO:0000269|PubMed:28144995, ECO:0000269|PubMed:29029362}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, axonal, type 2L (CMT2L) [MIM:608673]: An autosomal 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. {ECO:0000269|PubMed:15565283, ECO:0000269|PubMed:23796487}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myopathy, myofibrillar, 13, with rimmed vacuoles (MFM13) [MIM:621078]: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM13 is an autosomal dominant form characterized by progressive distal and proximal muscle weakness, muscle atrophy, and unsteady gait and walking difficulties. Symptoms usually begin in adulthood, although earlier disease onset has been reported in some cases. Muscle biopsy shows myofibrillar changes and rimmed vacuoles. Some patients have features of a peripheral motor or sensorimotor neuropathy. {ECO:0000269|PubMed:26718575, ECO:0000269|PubMed:28501893, ECO:0000269|PubMed:31403083, ECO:0000269|PubMed:32165108, ECO:0000269|PubMed:33744911, ECO:0000269|PubMed:39548192}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in the chaperone-assisted selective autophagy (CASA), a crucial process for protein quality control, particularly in mechanical strained cells and tissues such as muscle. Displays temperature-dependent chaperone activity. {ECO:0000250|UniProtKB:Q9JK92}.
uniprot
proteins
mass_dalton
21604
uniprot
proteins
protein_family
Small heat shock protein (HSP20) family
uniprot
proteins
pubmed
10833516
uniprot
proteins
pubmed
11085516
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
11342557
uniprot
proteins
pubmed
11470154
uniprot
proteins
pubmed
11816564
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15122253
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
15565283
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19464326
uniprot
proteins
pubmed
20060297
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22366786
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23796487
uniprot
proteins
pubmed
26718575
uniprot
proteins
pubmed
27884606
uniprot
proteins
pubmed
28144995
uniprot
proteins
pubmed
28501893
uniprot
proteins
pubmed
29029362
uniprot
proteins
pubmed
31403083
uniprot
proteins
pubmed
32165108
uniprot
proteins
pubmed
33744911
uniprot
proteins
pubmed
39548192
uniprot
proteins
sequence_length
196
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19464326, ECO:0000269|PubMed:28144995}. Nucleus {ECO:0000269|PubMed:19464326}. Note=Translocates to nuclear foci during heat shock.
uniprot
proteins