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    CRYBG1 crystallin beta-gamma domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 202, updated on 9-Dec-2024

    Summary

    Official Symbol
    CRYBG1provided by HGNC
    Official Full Name
    crystallin beta-gamma domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:356
    See related
    Ensembl:ENSG00000112297 MIM:601797; AllianceGenome:HGNC:356
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ST4; AIM1
    Summary
    Predicted to enable carbohydrate binding activity. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in esophagus (RPKM 35.8), skin (RPKM 27.1) and 19 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CRYBG1 in Genome Data Viewer
    Location:
    6q21
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (106360717..106572017)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (107536848..107748164)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (106808592..107019892)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene autophagy related 5 Neighboring gene RNA, 7SL, cytoplasmic 47, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:106770796-106771296 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:106771297-106771797 Neighboring gene RNA, U6 small nuclear 344, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24885 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17431 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:106808598-106809464 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:106895745-106896246 Neighboring gene uncharacterized LOC105377924 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:106908781-106909430 Neighboring gene RNA, 5S ribosomal pseudogene 211 Neighboring gene uncharacterized LOC101927405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:106957727-106958332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:106959060-106960018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17433 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:106967140-106968339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24891 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:107023180-107023700 Neighboring gene MPRA-validated peak6003 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr6:107033226-107033920 Neighboring gene reticulon 4 interacting protein 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:107061294-107061801 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:107062309-107062815 Neighboring gene RNA, U6 small nuclear 527, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24893 Neighboring gene ribosomal protein L21 pseudogene 65 Neighboring gene glutaminyl-tRNA amidotransferase subunit QRSL1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release.
    EBI GWAS Catalog
    Genome-wide association with select biomarker traits in the Framingham Heart Study.
    EBI GWAS Catalog
    Joint influence of small-effect genetic variants on human longevity.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
     

    General protein information

    Preferred Names
    beta/gamma crystallin domain-containing protein 1
    Names
    absent in melanoma 1 protein
    beta-gamma crystallin domain containing 1
    suppression of tumorigenicity 4 (malignant melanoma)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001371242.2NP_001358171.1  beta/gamma crystallin domain-containing protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL109920, AL359292, AL390074
      Consensus CDS
      CCDS93984.1
      UniProtKB/Swiss-Prot
      A0A0J9YWL0, B4DU04, O00296, Q5VWJ2, Q9Y4K1
      Related
      ENSP00000488010.2, ENST00000633556.3
      Conserved Domains (4) summary
      smart00247
      Location:14311522
      XTALbg; Beta/gamma crystallins
      PHA03307
      Location:192621
      PHA03307; transcriptional regulator ICP4; Provisional
      cd00161
      Location:19972125
      RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
      pfam00030
      Location:16271720
      Crystall; Beta/Gamma crystallin
    2. NM_001624.4NP_001615.2  beta/gamma crystallin domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001615.2

      Status: VALIDATED

      Source sequence(s)
      AL359292, AL390074
      Conserved Domains (5) summary
      smart00247
      Location:10231114
      XTALbg; Beta/gamma crystallins
      PHA03247
      Location:43455
      PHA03247; large tegument protein UL36; Provisional
      PRK12323
      Location:45211
      PRK12323; DNA polymerase III subunit gamma/tau
      cd00161
      Location:15891717
      RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
      pfam00030
      Location:12191312
      Crystall; Beta/Gamma crystallin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      106360717..106572017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418270.1XP_047274226.1  beta/gamma crystallin domain-containing protein 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      107536848..107748164
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354433.1XP_054210408.1  beta/gamma crystallin domain-containing protein 1 isoform X1

    2. XM_054354435.1XP_054210410.1  beta/gamma crystallin domain-containing protein 1 isoform X3

    3. XM_054354434.1XP_054210409.1  beta/gamma crystallin domain-containing protein 1 isoform X2