CRYAA_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
CRYAA
, CRYA1, HSPB4
Protein names and data:
CRYAA_HUMAN
, Alpha-crystallin A chain
, Heat shock protein beta-4; HspB4; Alpha-crystallin A(1-172); Alpha-crystallin A(1-168); Alpha-crystallin A(1-162)
Lenght: 173 a.a.
Mass: 19909 Da
fasta formatted sequence
Function:
Contributes 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.
Disease:
( OMIM:
123580
604219
)
Note=Alpha-crystallin A 1-172 is found at nearly twofold higher levels in diabetic lenses than in age-matched control lenses (PubMed:12356833). Cataract 9, multiple types (CTRCT9) [MIM:604219]: 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. CTRCT9 includes nuclear, zonular central nuclear, anterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total cataracts, among others. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm. Nucleus. Note=Translocates to the nucleus during heat shock and resides in sub-nuclear structures known as SC35 speckles or nuclear splicing speckles.
Tissue specificity:
Expressed in eye lens.
Genetic variants
12 - 12
R -> C (in CTRCT9). VAR_070032
21 - 21
R -> L (in CTRCT9; associated with macular hypoplasia and a generally hypopigmented fundus). VAR_046892
49 - 49
R -> C (in CTRCT9; nuclear cataract). VAR_038375
105 - 105
D -> H (in a breast cancer sample; somatic mutation). VAR_036564
116 - 116
R -> C (in CTRCT9; zonular central nuclear cataract; reduced chaperone-like activity and increased membrane-binding capacity). VAR_003819
116 - 116
R -> H (in CTRCT9; reverse phase-high- performance liquid chromatography suggests an increase hydrophobicity of the mutant protein; loss of chaperone activity of the mutant is seen in DL- dithiothreitol-induced insulin aggregation assay; fast protein liquid chromatography purification shows that the mutant protein has increased binding affinity to lysozyme). VAR_046893
Database cross-references
UniProt:
P02489
Ensembl:
ENST00000291554
MIM:
123580
MIM:
604219
neXtProt:
NX_P02489
Antibodypedia:
P02489
(may not find the protein thus also not any antibody)
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