Details for: CRYAB

Gene ID: 1410

Symbol: CRYAB

Ensembl ID: ENSG00000109846

Description: crystallin alpha B

Associated with

Other Information

Genular Protein ID: 978141804

Symbol: CRYAB_HUMAN

Name: Alpha-crystallin B chain

UniProtKB Accession Codes:

P02511 B0YIX0 O43416 Q9UC37 Q9UC38 Q9UC39 Q9UC40 Q9UC41

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CPTC 1 CTD 1 ChEBI 5 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 EMBL 9 EMDB 1 EPD 1 Ensembl 10 EvolutionaryTrace 1 ExpressionAtlas 1 GO 50 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 2 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 MoonDB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PDB 24 PDBsum 20 PIR 1 PIRSF 1 PRIDE 1 PRINTS 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 1 RefSeq 4 SAM 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SWISS-2DPAGE 1 SignaLink 1 TCDB 1 TreeFam 1 UCD-2DPAGE 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 838078

Title: The primary structure of the B2 chain of human alpha-crystallin.

PubMed ID: 838078

DOI: 10.1016/0014-5793(77)80757-6

PubMed ID: 2387586

Title: Human alpha B-crystallin gene and preferential promoter function in lens.

PubMed ID: 2387586

DOI: 10.1016/0888-7543(90)90204-8

PubMed ID: 1407707

Title: Accumulation of alpha B-crystallin in brains of patients with Alexander's disease is not due to an abnormality of the 5'-flanking and coding sequence of the genomic DNA.

PubMed ID: 1407707

DOI: 10.1016/0304-3940(92)90689-5

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1560006

Title: Copurification of small heat shock protein with alpha B crystallin from human skeletal muscle.

PubMed ID: 1560006

DOI: 10.1016/s0021-9258(18)42574-4

PubMed ID: 8999933

Title: Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens.

PubMed ID: 8999933

DOI: 10.1074/jbc.272.4.2268

PubMed ID: 7498159

Title: The major protein expression profile and two-dimensional protein database of human heart.

PubMed ID: 7498159

DOI: 10.1002/elps.11501601192

PubMed ID: 2539261

Title: Alpha B-crystallin is expressed in non-lenticular tissues and accumulates in Alexander's disease brain.

PubMed ID: 2539261

DOI: 10.1016/0092-8674(89)90173-6

PubMed ID: 8142454

Title: Simultaneous racemization and isomerization at specific aspartic acid residues in alpha B-crystallin from the aged human lens.

PubMed ID: 8142454

DOI: 10.1016/0167-4838(94)90003-5

PubMed ID: 8175657

Title: Post-translational modifications of water-soluble human lens crystallins from young adults.

PubMed ID: 8175657

DOI: 10.1016/s0021-9258(18)99902-3

PubMed ID: 10508479

Title: Antigens recognized by autologous antibody in patients with renal-cell carcinoma.

PubMed ID: 10508479

DOI: 10.1002/(sici)1097-0215(19991112)83:4<456::aid-ijc4>3.0.co;2-5

PubMed ID: 10930324

Title: The major in vivo modifications of the human water-insoluble lens crystallins are disulfide bonds, deamidation, methionine oxidation and backbone cleavage.

PubMed ID: 10930324

DOI: 10.1006/exer.2000.0868

PubMed ID: 10751411

Title: Identification and characterization of a novel protein from Sertoli cells, PASS1, that associates with mammalian small stress protein hsp27.

PubMed ID: 10751411

DOI: 10.1074/jbc.m001981200

PubMed ID: 11577372

Title: Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.

PubMed ID: 11577372

DOI: 10.1086/324158

PubMed ID: 11158243

Title: Ser-59 is the major phosphorylation site in alphaB-crystallin accumulated in the brains of patients with Alexander's disease.

PubMed ID: 11158243

DOI: 10.1046/j.1471-4159.2001.00038.x

PubMed ID: 11369851

Title: In vivo carbamylation and acetylation of water-soluble human lens alphaB-crystallin lysine 92.

PubMed ID: 11369851

DOI: 10.1110/ps.40901

PubMed ID: 14681890

Title: Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.

PubMed ID: 14681890

DOI: 10.1002/ana.10767

PubMed ID: 14676215

Title: Association of the chaperone alphaB-crystallin with titin in heart muscle.

PubMed ID: 14676215

DOI: 10.1074/jbc.m307473200

PubMed ID: 19464326

Title: HSPB7 is a SC35 speckle resident small heat shock protein.

PubMed ID: 19464326

DOI: 10.1016/j.bbamcr.2009.05.005

PubMed ID: 20836128

Title: Importance of eye lens alpha-crystallin heteropolymer with 3:1 alphaA to alphaB ratio: stability, aggregation, and modifications.

PubMed ID: 20836128

DOI: 10.1002/iub.373

PubMed ID: 21337604

Title: Infantile muscular dystrophy in Canadian aboriginals is an alphaB-crystallinopathy.

PubMed ID: 21337604

DOI: 10.1002/ana.22331

PubMed ID: 22120592

Title: Acetylation of alphaA-crystallin in the human lens: effects on structure and chaperone function.

PubMed ID: 22120592

DOI: 10.1016/j.bbadis.2011.11.011

PubMed ID: 22890888

Title: Identification of histidine residues involved in Zn(2+) binding to alphaA- and alphaB-Crystallin by chemical modification and MALDI TOF mass spectrometry.

PubMed ID: 22890888

DOI: 10.1007/s10930-012-9439-0

PubMed ID: 23542032

Title: Protective role of the endoplasmic reticulum protein mitsugumin23 against ultraviolet C-induced cell death.

PubMed ID: 23542032

DOI: 10.1016/j.febslet.2013.03.024

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 28470624

Title: alphaB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments.

PubMed ID: 28470624

DOI: 10.1007/s12192-017-0788-7

PubMed ID: 28493373

Title: The novel alphaB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.

PubMed ID: 28493373

DOI: 10.1002/humu.23248

PubMed ID: 31786107

Title: Heat shock factor 4 regulates lysosome activity by modulating the alphaB-crystallin-ATP6V1A-mTOR complex in ocular lens.

PubMed ID: 31786107

DOI: 10.1016/j.bbagen.2019.129496

PubMed ID: 32272059

Title: A Translocation Pathway for Vesicle-Mediated Unconventional Protein Secretion.

PubMed ID: 32272059

DOI: 10.1016/j.cell.2020.03.031

PubMed ID: 19646995

Title: Crystal structures of alpha-crystallin domain dimers of alphaB-crystallin and Hsp20.

PubMed ID: 19646995

DOI: 10.1016/j.jmb.2009.07.069

PubMed ID: 9731540

Title: A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.

PubMed ID: 9731540

DOI: 10.1038/1765

PubMed ID: 12601044

Title: Alteration of protein-protein interactions of congenital cataract crystallin mutants.

PubMed ID: 12601044

DOI: 10.1167/iovs.02-0950

PubMed ID: 16483541

Title: Alpha B-crystallin mutation in dilated cardiomyopathy.

PubMed ID: 16483541

DOI: 10.1016/j.bbrc.2006.01.154

PubMed ID: 16793013

Title: alphaB-crystallin mutation in dilated cardiomyopathies: low prevalence in a consecutive series of 200 unrelated probands.

PubMed ID: 16793013

DOI: 10.1016/j.bbrc.2006.05.203

PubMed ID: 18587492

Title: Crystallin gene mutations in Indian families with inherited pediatric cataract.

PubMed ID: 18587492

PubMed ID: 21866213

Title: Mutation analysis of 12 genes in Chinese families with congenital cataracts.

PubMed ID: 21866213

PubMed ID: 21920752

Title: A novel CRYAB mutation resulting in multisystemic disease.

PubMed ID: 21920752

DOI: 10.1016/j.nmd.2011.07.004

Sequence Information:

  • Length: 175
  • Mass: 20159
  • Checksum: AE08BED46B7849CB
  • Sequence:
    • MDIAIHHPWI RRPFFPFHSP SRLFDQFFGE HLLESDLFPT STSLSPFYLR PPSFLRAPSW 
FDTGLSEMRL EKDRFSVNLD VKHFSPEELK VKVLGDVIEV HGKHEERQDE HGFISREFHR 
KYRIPADVDP LTITSSLSSD GVLTVNGPRK QVSGPERTIP ITREEKPAVT AAPKK

Genular Protein ID: 4145253263

Symbol: A0A024R3B9_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A024R3B9

Database IDs:

ARBA 5 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 4 EPD 1 Ensembl 5 GO 2 Gene3D 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 InterPro 3 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 2 PROSITE-ProRule 1 Pfam 1 Proteomes 2 RefSeq 1 RuleBase 1 SAM 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

Sequence Information:

  • Length: 108
  • Mass: 12253
  • Checksum: 69516E9976DC1238
  • Sequence:
    • MRLEKDRFSV NLDVKHFSPE ELKVKVLGDV IEVHGKHEER QDEHGFISRE FHRKYRIPAD 
VDPLTITSSL SSDGVLTVNG PRKQVSGPER TIPITREEKP AVTAAPKK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.