CRYAB
entrez
1410
canonical
uniprot
P02511
canonical
ensembl
ENSG00000109846
resolver
ensp
ENSP00000227251
resolver
ensp
ENSP00000433560
resolver
ensp
ENSP00000434247
resolver
ensp
ENSP00000435046
resolver
ensp
ENSP00000435411
resolver
ensp
ENSP00000435931
resolver
ensp
ENSP00000435960
resolver
ensp
ENSP00000436051
resolver
ensp
ENSP00000436089
resolver
ensp
ENSP00000437149
resolver
ensp
ENSP00000483554
resolver
ensp
ENSP00000498735
resolver
ensp
ENSP00000498749
resolver
ensp
ENSP00000499082
resolver
ensp
ENSP00000528850
resolver
enst
ENST00000227251
resolver
enst
ENST00000525823
resolver
enst
ENST00000526180
resolver
enst
ENST00000527899
resolver
enst
ENST00000527950
resolver
enst
ENST00000528961
resolver
enst
ENST00000531198
resolver
enst
ENST00000533280
resolver
enst
ENST00000533475
resolver
enst
ENST00000533879
resolver
enst
ENST00000616970
resolver
enst
ENST00000650687
resolver
enst
ENST00000651164
resolver
enst
ENST00000651650
resolver
enst
ENST00000858791
resolver
genesymbol
CRYAB
resolver
genesymbol
HEL-S-101
resolver
genesymbol_syn
CRYA2
resolver
genesymbol_syn
CRYAB
resolver
genesymbol_syn
HSPB5
resolver
hgnc
HGNC:2389
resolver
uniprot
A0A024R3B9
resolver
uniprot
B0YIX0
resolver
uniprot
O43416
resolver
uniprot
Q9UC37
resolver
uniprot
Q9UC38
resolver
uniprot
Q9UC39
resolver
uniprot
Q9UC40
resolver
uniprot
Q9UC41
resolver
uniprot
V9HW27
resolver
uniprot_entry
A0A024R3B9_HUMAN
resolver
uniprot_entry
CRYAB_HUMAN
resolver
uniprot_entry
V9HW27_HUMAN
resolver
uniprot_sec
B0YIX0
resolver
uniprot_sec
O43416
resolver
uniprot_sec
Q9UC37
resolver
uniprot_sec
Q9UC38
resolver
uniprot_sec
Q9UC39
resolver
uniprot_sec
Q9UC40
resolver
uniprot_sec
Q9UC41
resolver
amino_acid_sequence
MDIAIHHPWIRRPFFPFHSPSRLFDQFFGEHLLESDLFPTSTSLSPFYLRPPSFLRAPSWFDTGLSEMRLEKDRFSVNLDVKHFSPEELKVKVLGDVIEVHGKHEERQDEHGFISREFHRKYRIPADVDPLTITSSLSSDGVLTVNGPRKQVSGPERTIPITREEKPAVTAAPKK
uniprot
proteins
disease_involvement
DISEASE: Myopathy, myofibrillar, 2A, adult-onset (MFM2A) [MIM:608810]: 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. MFM2A is an autosomal dominant form characterized by weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, respiratory insufficiency, hypertrophic cardiomyopathy, and cataract. {ECO:0000269|PubMed:12601044, ECO:0000269|PubMed:14681890, ECO:0000269|PubMed:21920752, ECO:0000269|PubMed:25208129, ECO:0000269|PubMed:9731540}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cataract 16, multiple types (CTRCT16) [MIM:613763]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT16 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. {ECO:0000269|PubMed:11577372, ECO:0000269|PubMed:18587492, ECO:0000269|PubMed:21866213}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=CRYAB mutations may be involved in restrictive cardiomyopathy (RCM), a rare non-ischemic myocardial disease. RCM is characterized by restrictive ventricular-filling physiology in the presence of normal or reduced diastolic and/or systolic volumes (of 1 or both ventricles), biatrial enlargement, and normal ventricular wall thickness. {ECO:0000269|PubMed:28493373}.; DISEASE: Myopathy, myofibrillar, 2B, infantile-onset (MFM2B) [MIM:613869]: 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. MFM2B is an autosomal recessive form characterized by onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years. {ECO:0000269|PubMed:21337604}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, dilated, 1II (CMD1II) [MIM:615184]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:16483541, ECO:0000269|PubMed:16793013}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions. In lens epithelial cells, stabilizes the ATP6V1A protein, preventing its degradation by the proteasome (By similarity). {ECO:0000250|UniProtKB:P23927}.
uniprot
proteins
mass_dalton
20159
uniprot
proteins
protein_family
Small heat shock protein (HSP20) family
uniprot
proteins
pubmed
10508479
uniprot
proteins
pubmed
10751411
uniprot
proteins
pubmed
10930324
uniprot
proteins
pubmed
11158243
uniprot
proteins
pubmed
11369851
uniprot
proteins
pubmed
11577372
uniprot
proteins
pubmed
12601044
uniprot
proteins
pubmed
1407707
uniprot
proteins
pubmed
14676215
uniprot
proteins
pubmed
14681890
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1560006
uniprot
proteins
pubmed
16483541
uniprot
proteins
pubmed
16793013
uniprot
proteins
pubmed
18587492
uniprot
proteins
pubmed
19464326
uniprot
proteins
pubmed
19646995
uniprot
proteins
pubmed
20836128
uniprot
proteins
pubmed
21337604
uniprot
proteins
pubmed
21866213
uniprot
proteins
pubmed
21920752
uniprot
proteins
pubmed
22120592
uniprot
proteins
pubmed
22890888
uniprot
proteins
pubmed
23542032
uniprot
proteins
pubmed
2387586
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25208129
uniprot
proteins
pubmed
2539261
uniprot
proteins
pubmed
28470624
uniprot
proteins
pubmed
28493373
uniprot
proteins
pubmed
28939839
uniprot
proteins
pubmed
31786107
uniprot
proteins
pubmed
32272059
uniprot
proteins
pubmed
7498159
uniprot
proteins
pubmed
8142454
uniprot
proteins
pubmed
8175657
uniprot
proteins
pubmed
838078
uniprot
proteins
pubmed
8999933
uniprot
proteins
pubmed
9731540
uniprot
proteins
sequence_length
175
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19464326, ECO:0000269|PubMed:28493373}. Nucleus {ECO:0000269|PubMed:19464326}. Secreted {ECO:0000269|PubMed:32272059}. Lysosome {ECO:0000250|UniProtKB:P23927}. Note=Translocates to the nucleus during heat shock and resides in sub-nuclear structures known as SC35 speckles or nuclear splicing speckles (PubMed:19464326). Localizes at the Z-bands and the intercalated disk in cardiomyocytes (PubMed:28493373). Can be secreted; the secretion is dependent on protein unfolding and facilitated by the cargo receptor TMED10; it results in protein translocation from the cytoplasm into the ERGIC (endoplasmic reticulum-Golgi intermediate compartment) followed by vesicle entry and secretion (PubMed:32272059). {ECO:0000269|PubMed:19464326, ECO:0000269|PubMed:28493373, ECO:0000269|PubMed:32272059}.
uniprot
proteins