CRYBA1 Gene (Protein Coding)

Crystallin Beta A1

GC17P029246
GIFtS:
42
Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stab... See more...

Aliases for CRYBA1 Gene

Aliases for CRYBA1 Gene

  • Crystallin Beta A1 2 3 5
  • Eye Lens Structural Protein 2 3
  • Beta-Crystallin A3 3 4
  • CRYB1 3 4
  • Beta Crystallin A3 Chain Transcript LAM 3
  • Beta Crystallin A3 Chain Transcript CN 3
  • Beta Crystallin A3 Chain Transcript PS 3
  • Beta Crystallin A3 Chain Transcript TC 3
  • Truncated Beta Crystallin A3/A1 Chain 3
  • Truncated Beta-Crystallin A3 3
  • Crystallin Beta A3/A1 3
  • Crystallin, Beta A3 3
  • Crystallin, Beta A1 2
  • CTRCT10 3

External Ids for CRYBA1 Gene

Previous HGNC Symbols for CRYBA1 Gene

  • CRYB1

Previous GeneCards Identifiers for CRYBA1 Gene

  • GC17M027303
  • GC17P029473
  • GC17P027425
  • GC17P027719
  • GC17P024598
  • GC17P027573
  • GC17P023782

Summaries for CRYBA1 Gene

Entrez Gene Summary for CRYBA1 Gene

  • Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease 'zonular cataract with sutural opacities'. [provided by RefSeq, Jul 2008]

GeneCards Summary for CRYBA1 Gene

CRYBA1 (Crystallin Beta A1) is a Protein Coding gene. Diseases associated with CRYBA1 include Cataract 10, Multiple Types and Early-Onset Sutural Cataract. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and structural constituent of eye lens. An important paralog of this gene is CRYBA4.

UniProtKB/Swiss-Prot Summary for CRYBA1 Gene

  • Crystallins are the dominant structural components of the vertebrate eye lens.

Gene Wiki entry for CRYBA1 Gene

Additional gene information for CRYBA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CRYBA1 Gene

Genomics for CRYBA1 Gene

GeneHancer (GH) Regulatory Elements for CRYBA1 Gene

Promoters and enhancers for CRYBA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CRYBA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CRYBA1 gene promoter:
  • AP-1
  • E47
  • ITF-2
  • Lmo2
  • Pax-2
  • Pax-2a
  • POU2F1
  • POU2F1a
  • Tal-1
  • Tal-1beta

Genomic Locations for CRYBA1 Gene

Genomic Locations for CRYBA1 Gene
chr17:29,246,857-29,254,494
(GRCh38/hg38)
Size:
7,638 bases
Orientation:
Plus strand
chr17:27,573,875-27,581,512
(GRCh37/hg19)
Size:
7,638 bases
Orientation:
Plus strand

Genomic View for CRYBA1 Gene

Genes around CRYBA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRYBA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRYBA1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CRYBA1 Gene

Proteins for CRYBA1 Gene

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  • Protein details for CRYBA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05813-CRBA1_HUMAN
    Recommended name:
    Beta-crystallin A3
    Protein Accession:
    P05813
    Secondary Accessions:
    • Q13633
    • Q14CM9

    Protein attributes for CRYBA1 Gene

    Size:
    215 amino acids
    Molecular mass:
    25150 Da
    Quaternary structure:
    • Homo/heterodimer, or complexes of higher-order. The structure of beta-crystallin oligomers seems to be stabilized through interactions between the N-terminal arms (By similarity).

    Alternative splice isoforms for CRYBA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CRYBA1 Gene

Protein Expression for CRYBA1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CRYBA1 Gene

  • Specific cleavages in the N-terminal arm occur during lens maturation and give rise to several truncated forms. Cleavages do not seem to have adverse effects on solubility.
  • S-methylation and glutathionylation occur in normal young lenses and do not seem to be detrimental.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CRYBA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CRYBA1 Gene

Domains & Families for CRYBA1 Gene

Gene Families for CRYBA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CRYBA1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CRYBA1 Gene

GenScript: Design optimal peptide antigens:
  • Beta-crystallin A3 (CRBA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P05813

UniProtKB/Swiss-Prot:

CRBA1_HUMAN :
  • Has a two-domain beta-structure, folded into four very similar Greek key motifs.
  • Belongs to the beta/gamma-crystallin family.
Domain:
  • Has a two-domain beta-structure, folded into four very similar Greek key motifs.
Family:
  • Belongs to the beta/gamma-crystallin family.
genes like me logo Genes that share domains with CRYBA1: view

Function for CRYBA1 Gene

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Molecular function for CRYBA1 Gene

UniProtKB/Swiss-Prot Function:
Crystallins are the dominant structural components of the vertebrate eye lens.
GENATLAS Biochemistry:
crystallin,beta polypeptide A1

Phenotypes From GWAS Catalog for CRYBA1 Gene

Gene Ontology (GO) - Molecular Function for CRYBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005212 structural constituent of eye lens IBA 21873635
GO:0005515 protein binding IPI 17046756
genes like me logo Genes that share ontologies with CRYBA1: view
genes like me logo Genes that share phenotypes with CRYBA1: view

Human Phenotype Ontology for CRYBA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CRYBA1 Gene

MGI Knock Outs for CRYBA1:
  • Cryba1 Cryba1<tm1a(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for CRYBA1 Gene

miRTarBase miRNAs that target CRYBA1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRYBA1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CRYBA1 Gene

Localization for CRYBA1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CRYBA1 gene
Compartment Confidence
nucleus 4
cytosol 2
lysosome 1
extracellular 0

Gene Ontology (GO) - Cellular Components for CRYBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS,IEA --
GO:0005737 cytoplasm IEA,ISS --
genes like me logo Genes that share ontologies with CRYBA1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for CRYBA1 Gene

Pathways & Interactions for CRYBA1 Gene

PathCards logo

SuperPathways for CRYBA1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CRYBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001818 negative regulation of cytokine production IEA --
GO:0002088 lens development in camera-type eye IBA 21873635
GO:0007601 visual perception IBA,NAS 8999933
GO:0014067 negative regulation of phosphatidylinositol 3-kinase signaling IEA --
GO:0032007 negative regulation of TOR signaling IEA --
genes like me logo Genes that share ontologies with CRYBA1: view

No data available for Pathways by source and SIGNOR curated interactions for CRYBA1 Gene

Drugs & Compounds for CRYBA1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for CRYBA1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CRYBA1 Gene

(1) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(146) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRYBA1

Alternative Splicing Database (ASD) splice patterns (SP) for CRYBA1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1:
SP2: -

Relevant External Links for CRYBA1 Gene

GeneLoc Exon Structure for
CRYBA1
ECgene alternative splicing isoforms for
CRYBA1

Expression for CRYBA1 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CRYBA1 Gene

mRNA expression in normal human tissues for CRYBA1 Gene
mRNA expression by GTEx for CRYBA1 GenemRNA expression by BioGPS for CRYBA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CRYBA1 Gene

This gene is overexpressed in Vitreous humor (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CRYBA1 Gene



Protein tissue co-expression partners for CRYBA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CRYBA1 Gene:

CRYBA1

SOURCE GeneReport for Unigene cluster for CRYBA1 Gene:

Hs.46275

Evidence on tissue expression from TISSUES for CRYBA1 Gene

  • Eye(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CRYBA1 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CRYBA1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CRYBA1 Gene

Orthologs for CRYBA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CRYBA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CRYBA1 33 32
  • 99.22 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CRYBA3 33
  • 96 (a)
 OneToOne
CRYBA1 32
  • 93.02 (n)
rat
(Rattus norvegicus)
 Mammalia Cryba1 32
  • 92.09 (n)
cow
(Bos Taurus)
 Mammalia CRYBA1 33 32
  • 91.32 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Cryba1 17 33 32
  • 90.54 (n)
oppossum
(Monodelphis domestica)
 Mammalia CRYBA1 33
  • 89 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CRYBA1 33
  • 76 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CRYBA1 33 32
  • 78.91 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CRYBA1 33
  • 77 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cryba1 32
  • 77.27 (n)
Str.11862 32
African clawed frog
(Xenopus laevis)
 Amphibia Xl.28806 32
zebrafish
(Danio rerio)
 Actinopterygii cryba1a 33 32
  • 76.87 (n)
 OneToOne
Species where no ortholog for CRYBA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CRYBA1 Gene

ENSEMBL:
Gene Tree for CRYBA1 (if available)
TreeFam:
Gene Tree for CRYBA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CRYBA1: view image

Paralogs for CRYBA1 Gene

Paralogs for CRYBA1 Gene

(14) SIMAP similar genes for CRYBA1 Gene using alignment to 2 proteins:

  • CRBA1_HUMAN
  • J3QRT1_HUMAN
genes like me logo Genes that share paralogs with CRYBA1: view

Variants for CRYBA1 Gene

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Sequence variations from dbSNP and Humsavar for CRYBA1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs117757092 uncertain-significance, benign, Cataract, congenital zonular, with sutural opacities, not specified 29,253,757(+) G/A coding_sequence_variant, missense_variant
rs1264025914 pathogenic, Cataract, congenital zonular, with sutural opacities, Inborn genetic diseases 29,250,301(+) G/A/T splice_donor_variant
rs142631461 benign, not specified, Cataract, congenital zonular, with sutural opacities 29,249,184(+) C/T coding_sequence_variant, missense_variant
rs1555547008 likely-pathogenic, Cataract, congenital zonular, with sutural opacities 29,254,227(+) TATCGTGGGTATC/TATC coding_sequence_variant, inframe_deletion
rs1567671947 pathogenic, Cataract, congenital zonular, with sutural opacities 29,254,308(+) CA/ coding_sequence_variant, frameshift

Structural Variations from Database of Genomic Variants (DGV) for CRYBA1 Gene

Variant ID Type Subtype PubMed ID
nsv1116210 CNV deletion 24896259
nsv953873 CNV duplication 24416366

Variation tolerance for CRYBA1 Gene

Residual Variation Intolerance Score: 52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.64; 31.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CRYBA1 Gene

Human Gene Mutation Database (HGMD)
CRYBA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRYBA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRYBA1 Gene

Disorders for CRYBA1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CRYBA1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract 10, multiple types
  • ctrct10
early-onset sutural cataract
  • early-onset cataract with y-shaped suture opacities
cataract 16, multiple types
  • ctrct16
early-onset lamellar cataract
early-onset nuclear cataract
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CRBA1_HUMAN
  • Cataract 10, multiple types (CTRCT10) [MIM:600881]: 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. CTRCT10 includes congenital zonular with sutural opacities, among others. This is a form of zonular cataract with an erect Y-shaped anterior and an inverted Y-shaped posterior sutural opacities. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. {ECO:0000269 PubMed:15016766, ECO:0000269 PubMed:9788845}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CRYBA1

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CRYBA1: view

No data available for Genatlas for CRYBA1 Gene

Publications for CRYBA1 Gene

  1. Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. (PMID: 9788845) Kannabiran C … Hejtmancik JF (Molecular vision 1998) 3 4 23 56
  2. Characterization of the human beta-crystallin gene Hu beta A3/A1 reveals ancestral relationships among the beta gamma-crystallin superfamily. (PMID: 3745196) Hogg D … Breitman ML (The Journal of biological chemistry 1986) 2 3 4 56
  3. Crystallin gene mutations in Indian families with inherited pediatric cataract. (PMID: 18587492) Devi RR … Hejtmancik JF (Molecular vision 2008) 3 23 56
  4. Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations. (PMID: 17653060) Lu S … Larsson C (Molecular vision 2007) 3 23 56
  5. Modifications of human betaA1/betaA3-crystallins include S-methylation, glutathiolation, and truncation. (PMID: 15576560) Lapko VN … Smith JB (Protein science : a publication of the Protein Society 2005) 3 4 56

ExternalLinks

View latest publications for CRYBA1 gene in Mastermind

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