{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P02511","secondaryAccessions":["B0YIX0","O43416","Q9UC37","Q9UC38","Q9UC39","Q9UC40","Q9UC41"],"uniProtkbId":"CRYAB_HUMAN","entryAudit":{"firstPublicDate":"1986-07-21","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"1990-01-01","entryVersion":261,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Alpha-crystallin B chain"}},"alternativeNames":[{"fullName":{"value":"Alpha(B)-crystallin"}},{"fullName":{"value":"Heat shock protein beta-5"},"shortNames":[{"value":"HspB5"}]},{"fullName":{"value":"Heat shock protein family B member 5"}},{"fullName":{"value":"Renal carcinoma antigen NY-REN-27"}},{"fullName":{"value":"Rosenthal fiber component"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:2389"}],"value":"CRYAB"},"synonyms":[{"value":"CRYA2"},{"value":"HSPB5"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P23927"}],"value":"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)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10751411"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14676215"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20836128"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22890888"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23542032"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28470624"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31786107"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32272059"}],"value":"Heteromer composed of three CRYAA and one CRYAB subunits (PubMed:20836128). Aggregates with homologous proteins, including the small heat shock protein HSPB1, to form large heteromeric complexes (PubMed:10751411). Inter-subunit bridging via zinc ions enhances stability, which is crucial as there is no protein turn over in the lens (PubMed:22890888). Interacts with HSPBAP1 and TTN/titin (PubMed:14676215). Interacts with TMEM109; in the cellular response to DNA damage (PubMed:23542032). Interacts with DES; binds rapidly during early stages of DES filament assembly and a reduced binding seen in the later stages (PubMed:28470624). Interacts with TMED10; the interaction mediates the translocation from the cytoplasm into the ERGIC (endoplasmic reticulum-Golgi intermediate compartment) and thereby secretion (PubMed:32272059). Interacts with ATP6V1A and with MTOR, forming a ternary complex (PubMed:31786107)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"P02511","intActId":"EBI-739060"},"interactantTwo":{"uniProtKBAccession":"Q6UY14-3","geneName":"ADAMTSL4","intActId":"EBI-10173507"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02511","intActId":"EBI-739060"},"interactantTwo":{"uniProtKBAccession":"P09525","geneName":"ANXA4","intActId":"EBI-2556852"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02511","intActId":"EBI-739060"},"interactantTwo":{"uniProtKBAccession":"P05067","geneName":"APP","intActId":"EBI-77613"},"numberOfExperiments":7,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02511","intActId":"EBI-739060"},"interactantTwo":{"uniProtKBAccession":"Q6QEF8-4","geneName":"CORO6","intActId":"EBI-10699285"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02511","intActId":"EBI-739060"},"interactantTwo":{"uniProtKBAccession":"Q14194","geneName":"CRMP1","intActId":"EBI-473101"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02511","intActId":"EBI-739060"},"interactantTwo":{"uniProtKBAccession":"P02489","geneName":"CRYAA","intActId":"EBI-6875961"},"numberOfExperiments":18,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02511","intActId":"EBI-739060"},"interactantTwo":{"uniProtKBAccession":"P02511","geneName":"CRYAB","intActId":"EBI-739060"},"numberOfExperiments":30,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02511","intActId":"EBI-739060"},"interactantTwo":{"uniProtKBAccession":"P05813","geneName":"CRYBA1","intActId":"EBI-7043337"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02511","intActId":"EBI-739060"},"interactantTwo":{"uniProtKBAccession":"P07315","geneName":"CRYGC","intActId":"EBI-6875941"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02511","intActId":"EBI-739060"},"interactantTwo":{"uniProtKBAccession":"P22914","geneName":"CRYGS","intActId":"EBI-11308647"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02511","intActId":"EBI-739060"},"interactantTwo":{"uniProtKBAccession":"P35222","geneName":"CTNNB1","intActId":"EBI-491549"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02511","intActId":"EBI-739060"},"interactantTwo":{"uniProtKBAccession":"O00471","geneName":"EXOC5","intActId":"EBI-949824"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02511","intActId":"EBI-739060"},"interactantTwo":{"uniProtKBAccession":"Q9H8Y8","geneName":"GORASP2","intActId":"EBI-739467"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02511","intActId":"EBI-739060"},"interactantTwo":{"uniProtKBAccession":"Q96LI6-3","geneName":"HSFY2","intActId":"EBI-25830912"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02511","intActId":"EBI-739060"},"interactantTwo":{"uniProtKBAccession":"P04792","geneName":"HSPB1","intActId":"EBI-352682"},"numberOfExperiments":8,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02511","intActId":"EBI-739060"},"interactantTwo":{"uniProtKBAccession":"Q16082","geneName":"HSPB2","intActId":"EBI-739395"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02511","intActId":"EBI-739060"},"interactantTwo":{"uniProtKBAccession":"Q3LI64","geneName":"KRTAP6-1","intActId":"EBI-12111050"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02511","intActId":"EBI-739060"},"interactantTwo":{"uniProtKBAccession":"P60891","geneName":"PRPS1","intActId":"EBI-749195"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02511","intActId":"EBI-739060"},"interactantTwo":{"uniProtKBAccession":"Q8WUY3","geneName":"PRUNE2","intActId":"EBI-743880"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02511","intActId":"EBI-739060"},"interactantTwo":{"uniProtKBAccession":"Q3UBX0","geneName":"Tmem109","intActId":"EBI-2366300"},"numberOfExperiments":2,"organismDiffer":true}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19464326"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28493373"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32272059"}],"value":"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)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19464326"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28493373"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19464326"}],"value":"Nucleus","id":"SL-0191"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32272059"}],"value":"Secreted","id":"SL-0243"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P23927"}],"value":"Lysosome","id":"SL-0158"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2387586"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28493373"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"838078"}],"value":"Lens as well as other tissues (PubMed:2387586, PubMed:838078). Expressed in myocardial tissue (PubMed:28493373)"}],"commentType":"TISSUE SPECIFICITY"},{"commentType":"MASS SPECTROMETRY","method":"Electrospray","molWeight":20201.0,"molWeightError":0.0,"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10930324"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8175657"}]},{"commentType":"MASS SPECTROMETRY","method":"Electrospray","molWeight":20281.0,"molWeightError":0.0,"note":"With 1 phosphate group.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10930324"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8175657"}]},{"commentType":"MASS SPECTROMETRY","method":"Electrospray","molWeight":20360.0,"molWeightError":0.0,"note":"With 2 phosphate groups.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8175657"}]},{"commentType":"MASS SPECTROMETRY","method":"Electrospray","molWeight":20199.0,"molWeightError":0.0,"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10930324"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8175657"}]},{"commentType":"MASS SPECTROMETRY","method":"Electrospray","molWeight":20278.0,"molWeightError":0.0,"note":"With 1 phosphate group.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10930324"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8175657"}]},{"commentType":"DISEASE","disease":{"diseaseId":"Myopathy, myofibrillar, 2A, adult-onset","diseaseAccession":"DI-01179","acronym":"MFM2A","description":"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.","diseaseCrossReference":{"database":"MIM","id":"608810"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12601044"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14681890"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21920752"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25208129"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9731540"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Cataract 16, multiple types","diseaseAccession":"DI-02998","acronym":"CTRCT16","description":"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.","diseaseCrossReference":{"database":"MIM","id":"613763"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11577372"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18587492"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21866213"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28493373"}],"value":"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"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Myopathy, myofibrillar, 2B, infantile-onset","diseaseAccession":"DI-03083","acronym":"MFM2B","description":"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.","diseaseCrossReference":{"database":"MIM","id":"613869"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21337604"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Cardiomyopathy, dilated, 1II","diseaseAccession":"DI-03750","acronym":"CMD1II","description":"A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.","diseaseCrossReference":{"database":"MIM","id":"615184"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16483541"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16793013"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00285"}],"value":"Belongs to the small heat shock protein (HSP20) family"}],"commentType":"SIMILARITY"},{"commentType":"WEB RESOURCE","resourceName":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","resourceUrl":"https://atlasgeneticsoncology.org/gene/40156/CRYAB","ftp":false}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":175,"modifier":"EXACT"}},"description":"Alpha-crystallin B 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