Endometriosis Knowledgebase

Search Result

Gene id

1410

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

CRYAB Gene UCSC Ensembl

Aliases

CMD1II, CRYA2, CTPP2, CTRCT16, HEL-S-101, HSPB5, MFM2

Gene name

crystallin alpha B

Alternate names

alpha-crystallin B chain, epididymis secretory protein Li 101, heat shock protein beta-5, heat-shock 20 kD like-protein, renal carcinoma antigen NY-REN-27, rosenthal fiber component,

Gene location

11q23.1 (111913212: 111908619) Exons: 6 NC_000011.10

Gene summary(Entrez)

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. Post-translational modifications decrease the ability to chaperone. 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 2014]

OMIM

123590

Protein Summary

Protein general information

P02511

Name: Alpha crystallin B chain (Alpha(B) crystallin) (Heat shock protein beta 5) (HspB5) (Renal carcinoma antigen NY REN 27) (Rosenthal fiber component)

Length: 175 Mass: 20,159

Tissue specificity: Lens as well as other tissues.

Sequence

MDIAIHHPWIRRPFFPFHSPSRLFDQFFGEHLLESDLFPTSTSLSPFYLRPPSFLRAPSWFDTGLSEMRLEKDRF
SVNLDVKHFSPEELKVKVLGDVIEVHGKHEERQDEHGFISREFHRKYRIPADVDPLTITSSLSSDGVLTVNGPRK
QVSGPERTIPITREEKPAVTAAPKK

Structural information

Protein Domains	sHSP. (56-164)
Interpro:	IPR002068 IPR001436 IPR012273 IPR003090 IPR031107 IPR008978
Prosite:	PS01031
Pfam:	PF00525 PF00011
PDB:	2KLR 2N0K 2WJ7 2Y1Y 2Y1Z 2Y22 2YGD 3J07 3L1G 3SGM 3SGN 3SGO 3SGP 3SGR 3SGS 4M5S 4M5T
PDBsum:	2KLR 2N0K 2WJ7 2Y1Y 2Y1Z 2Y22 2YGD 3J07 3L1G 3SGM 3SGN 3SGO 3SGP 3SGR 3SGS 4M5S 4M5T
DIP:	35017
MINT:	221013
STRING:	ENSP00000227251;

Other Databases

GeneCards: CRYAB; Malacards: CRYAB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001666	response to hypoxia	IEA	biological_process
GO:0002088	lens development in camer a-type eye	IEA	biological_process
GO:0005212	structural constituent of eye lens	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005794	Golgi apparatus	IEA	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0006457	protein folding	IEA	biological_process
GO:0006936	muscle contraction	TAS	biological_process
GO:0007021	tubulin complex assembly	IEA	biological_process
GO:0007517	muscle organ development	IEA	biological_process
GO:0007568	aging	IEA	biological_process
GO:0008017	microtubule binding	IEA	molecular_function
GO:0009986	cell surface	IEA	cellular_component
GO:0010629	negative regulation of ge ne expression	IEA	biological_process
GO:0010941	regulation of cell death	IMP	biological_process
GO:0015630	microtubule cytoskeleton	IEA	cellular_component
GO:0030018	Z disc	IEA	cellular_component
GO:0030308	negative regulation of ce ll growth	IEA	biological_process
GO:0031109	microtubule polymerizatio n or depolymerization	IEA	biological_process
GO:0032355	response to estradiol	IEA	biological_process
GO:0032387	negative regulation of in tracellular transport	IDA	biological_process
GO:0032432	actin filament bundle	IEA	cellular_component
GO:0042542	response to hydrogen pero xide	IEA	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0043066	negative regulation of ap optotic process	IDA	biological_process
GO:0043154	negative regulation of cy steine-type endopeptidase activity involved in apo ptotic process	IEA	biological_process
GO:0043209	myelin sheath	IEA	cellular_component
GO:0046872	metal ion binding	IEA	molecular_function
GO:0051082	unfolded protein binding	IPI	molecular_function
GO:0051260	protein homooligomerizati on	IDA	biological_process
GO:0051403	stress-activated MAPK cas cade	IEA	biological_process
GO:0060561	apoptotic process involve d in morphogenesis	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071480	cellular response to gamm a radiation	IMP	biological_process
GO:1900034	regulation of cellular re sponse to heat	TAS	biological_process
GO:2000378	negative regulation of re active oxygen species met abolic process	IEA	biological_process
GO:0001666	response to hypoxia	IEA	biological_process
GO:0002088	lens development in camer a-type eye	IEA	biological_process
GO:0005212	structural constituent of eye lens	IEA	molecular_function
GO:0005212	structural constituent of eye lens	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005794	Golgi apparatus	IEA	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0006457	protein folding	IEA	biological_process
GO:0006457	protein folding	NAS	biological_process
GO:0006936	muscle contraction	TAS	biological_process
GO:0007021	tubulin complex assembly	IEA	biological_process
GO:0007517	muscle organ development	IEA	biological_process
GO:0007568	aging	IEA	biological_process
GO:0008017	microtubule binding	IEA	molecular_function
GO:0008092	cytoskeletal protein bind ing	IEA	molecular_function
GO:0009986	cell surface	IEA	cellular_component
GO:0010629	negative regulation of ge ne expression	IEA	biological_process
GO:0010941	regulation of cell death	IMP	biological_process
GO:0015630	microtubule cytoskeleton	IEA	cellular_component
GO:0030018	Z disc	IEA	cellular_component
GO:0030308	negative regulation of ce ll growth	IEA	biological_process
GO:0031109	microtubule polymerizatio n or depolymerization	IEA	biological_process
GO:0031674	I band	IEA	cellular_component
GO:0032355	response to estradiol	IEA	biological_process
GO:0032387	negative regulation of in tracellular transport	IDA	biological_process
GO:0032432	actin filament bundle	IEA	cellular_component
GO:0042542	response to hydrogen pero xide	IEA	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0043010	camera-type eye developme nt	IEA	biological_process
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0043066	negative regulation of ap optotic process	IDA	biological_process
GO:0043154	negative regulation of cy steine-type endopeptidase activity involved in apo ptotic process	IEA	biological_process
GO:0043209	myelin sheath	IEA	cellular_component
GO:0043292	contractile fiber	IEA	cellular_component
GO:0046872	metal ion binding	IEA	molecular_function
GO:0051082	unfolded protein binding	IPI	molecular_function
GO:0051260	protein homooligomerizati on	IDA	biological_process
GO:0051403	stress-activated MAPK cas cade	IEA	biological_process
GO:0060561	apoptotic process involve d in morphogenesis	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071480	cellular response to gamm a radiation	IMP	biological_process
GO:1900034	regulation of cellular re sponse to heat	TAS	biological_process
GO:2000378	negative regulation of re active oxygen species met abolic process	IEA	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006457	protein folding	NAS	biological_process
GO:0006936	muscle contraction	TAS	biological_process
GO:0010941	regulation of cell death	IMP	biological_process
GO:0032387	negative regulation of in tracellular transport	IDA	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0043066	negative regulation of ap optotic process	IDA	biological_process
GO:0051082	unfolded protein binding	IPI	molecular_function
GO:0051260	protein homooligomerizati on	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071480	cellular response to gamm a radiation	IMP	biological_process
GO:1900034	regulation of cellular re sponse to heat	TAS	biological_process

KEGG pathways

hsa04213 Longevity regulating pathway
hsa04141 Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Cardiomyopathy	OMIM: 123590
Cataract	OMIM: 123590, KEGG: H01202
Endometriosis	PMID: 24945100
Multiple sclerosis	PMID: 14610128
Myofibrillar myopathies	KEGG: H00595
Myopathy	OMIM: 123590
Endometriosis	INFBASE24945100

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
24945100	Endometrio sis			38 women with p eritoneal endom etriosis diagno sed during inve stigation for s econdary infert ility	Female infertility	ERA PR PR-B CRYAB	Show abstract