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Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2019]
CRYAB (Crystallin Alpha B) is a Protein Coding gene. Diseases associated with CRYAB include Myopathy, Myofibrillar, 2 and Cardiomyopathy, Dilated, 1Ii. Among its related pathways are Protein processing in endoplasmic reticulum and Longevity regulating pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and microtubule binding. An important paralog of this gene is CRYAA.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001540 | amyloid-beta binding | IPI | 23106396 |
GO:0005198 | structural molecule activity | IDA | 16303126 |
GO:0005212 | structural constituent of eye lens | IEA | -- |
GO:0005515 | protein binding | IPI | 11700327 |
GO:0008017 | microtubule binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005634 | nucleus | IEA,IDA | 19464326 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA,IDA | 14752512 |
GO:0005739 | mitochondrion | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Longevity regulating pathway | ||
2 | Protein processing in endoplasmic reticulum |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001666 | response to hypoxia | IEA | -- |
GO:0002088 | lens development in camera-type eye | IEA | -- |
GO:0006457 | protein folding | NAS,IEA | -- |
GO:0006936 | muscle contraction | TAS | 9731540 |
GO:0007021 | tubulin complex assembly | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||
SP2: | - | ||||||||||||||||
SP3: | |||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CRYAB 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CRYAB 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CRYAB 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cryab 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cryab 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CRYAB 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CRYAB 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CRYAB 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CRYAB 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cryab 30 |
|
||
Str.8597 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7573 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cryabb 30 31 |
|
OneToMany | |
cryaba 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | l(2)efl 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007162 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.195 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
804222 | Pathogenic: Alpha-B crystallinopathy | 111,908,777(-) |
GC/G NM_001289808.2(CRYAB):c.514del (p.Ala172fs) |
FRAMESHIFT | |
839870 | Uncertain Significance: Dilated cardiomyopathy 1II; not provided | 111,911,640(-) |
C/G NM_001289808.2(CRYAB):c.85G>C (p.Gly29Arg) |
MISSENSE | |
843625 | Uncertain Significance: Dilated cardiomyopathy 1II | 111,911,613(-) |
A/G NM_001289808.2(CRYAB):c.112T>C (p.Phe38Leu) |
MISSENSE | |
848591 | Uncertain Significance: Dilated cardiomyopathy 1II | 111,910,445(-) |
C/A NM_001289808.2(CRYAB):c.206G>T (p.Arg69Leu) |
MISSENSE | |
854963 | Uncertain Significance: Dilated cardiomyopathy 1II | 111,910,374(-) |
C/A NM_001289808.2(CRYAB):c.277G>T (p.Val93Leu) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1070987 | CNV | deletion | 25765185 |
nsv482162 | CNV | loss | 20164927 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myopathy, myofibrillar, 2 |
|
|
cardiomyopathy, dilated, 1ii |
|
|
myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related |
|
|
cataract 16, multiple types |
|
|
early-onset posterior polar cataract |
|