Details for: CRYBA1

Gene ID: 1411

Symbol: CRYBA1

Ensembl ID: ENSG00000108255

Description: crystallin beta A1

Associated with

Other Information

Genular Protein ID: 2486637131

Symbol: CRBA1_HUMAN

Name: Beta-crystallin A3, isoform A1, Delta4 form

UniProtKB Accession Codes:

P05813 Q13633 Q14CM9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 12 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 1 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 3745196

Title: Characterization of the human beta-crystallin gene Hu beta A3/A1 reveals ancestral relationships among the beta gamma-crystallin superfamily.

PubMed ID: 3745196

DOI: 10.1016/s0021-9258(18)67257-6

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: 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: 15576560

Title: Modifications of human betaA1/betaA3-crystallins include S-methylation, glutathiolation, and truncation.

PubMed ID: 15576560

DOI: 10.1110/ps.04738505

PubMed ID: 28083894

Title: The amino acid transporter SLC36A4 regulates the amino acid pool in retinal pigmented epithelial cells and mediates the mechanistic target of rapamycin, complex 1 signaling.

PubMed ID: 28083894

DOI: 10.1111/acel.12561

PubMed ID: 9788845

Title: Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene.

PubMed ID: 9788845

PubMed ID: 15016766

Title: Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract.

PubMed ID: 15016766

DOI: 10.1093/hmg/ddh110

PubMed ID: 21866213

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

PubMed ID: 21866213

PubMed ID: 31523120

Title: Mutation screening of crystallin genes in Chinese families with congenital cataracts.

PubMed ID: 31523120

Sequence Information:

  • Length: 215
  • Mass: 25150
  • Checksum: C544564835688A19
  • Sequence:
    • METQAEQQEL ETLPTTKMAQ TNPTPGSLGP WKITIYDQEN FQGKRMEFTS SCPNVSERSF 
DNVRSLKVES GAWIGYEHTS FCGQQFILER GEYPRWDAWS GSNAYHIERL MSFRPICSAN 
HKESKMTIFE KENFIGRQWE ISDDYPSLQA MGWFNNEVGS MKIQSGAWVC YQYPGYRGYQ 
YILECDHHGG DYKHWREWGS HAQTSQIQSI RRIQQ

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.