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FLASH GENE

Symbol

CRYAA

contributors: mct/npt/pgu - updated : 22-02-2010

HGNC name	crystallin, alpha A
HGNC id	2388

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ADCC1 congenital cataract, zonular central nuclear 1 ARCC1 congenital cataract, autosomal recessive 1
Location	21q22.3      Physical location : 44.589.140 - 44.592.913
Synonym name	heat-shock protein beta-4
	alpha crystallin A chain
	crystallin, alpha-1
Synonym symbol(s)	HSPB4, CRYA1

DNA

TYPE	functioning gene
STRUCTURE	3.77 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	see COL6A2 , TFF1 , PFKL PFKL

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000394 3 - 1114 NP_000385 - 173 - 1992 1730617

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Visual eye lens       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

eye, lens

PROTEIN

PHYSICAL PROPERTIES		acid
STRUCTURE

motifs/domains	an N-ter involved in multimerization
	a C-terminus with the alpha cristallin domain responsible for chaperone function, C-terminal flexible arm significantly affecting the interaction with target proteins, and needed to keep the chaperone-target protein complex soluble

mono polymer

heteromer , dimer

HOMOLOGY

interspecies

homolog to murine Cryaa (94,80 pc)

Homologene

FAMILY	alpha crystallin superfamily
	small heat shock protein (sHSP or HSP20) subfamily

CATEGORY

chaperone/stress , structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	contributing to the refractive index and transparency of lens
	preventing the aggregation of other crystallins and proteins
	involved in chaperone activity
	potentially involved in maintenance of cytoskeletal network in muscle
	survival-promoting protein that enhances cellular resistance to apoptosis
	molecular chaperones that protect vertebrate eye lens proteins from detrimental protein aggregation
	a lens chaperone that plays an essential role in the transparency and refractive properties of the lens

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

a component	complexing with CRYAB (ratio AA3/AB1) (30-40 subunits,600-800 kDa)
	aggragating with alpha B in a 3:1 ratio

INTERACTION

DNA

RNA

small molecule

protein

CRYAB

cell & other

REGULATION

inhibited by

methionine oxidation in combination with loss of MSRA repair which causes loss of alpha-crystallin chaperone function

ASSOCIATED DISORDERS

corresponding disease(s)

ADCC1 , ARCC1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS