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

Gene ID: 202, updated on 6-Jan-2019

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
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
Expression
Broad expression in esophagus (RPKM 35.8), skin (RPKM 27.1) and 19 other tissues See more
Orthologs

Genomic context

See CRYBG1 in Genome Data Viewer
Location:
6q21
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (106360808..106570449)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (106808683..107018335)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene autophagy related 5 Neighboring gene RNA, 7SL, cytoplasmic 47, pseudogene Neighboring gene RNA, U6 small nuclear 344, pseudogene Neighboring gene uncharacterized LOC105377924 Neighboring gene RNA, 5S ribosomal pseudogene 211 Neighboring gene uncharacterized LOC101927405 Neighboring gene reticulon 4 interacting protein 1 Neighboring gene RNA, U6 small nuclear 527, pseudogene Neighboring gene ribosomal protein L21 pseudogene 65 Neighboring gene QRSL1, glutaminyl-tRNA amidotransferase subunit A

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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_001624.3NP_001615.2  beta/gamma crystallin domain-containing protein 1

    See identical proteins and their annotated locations for NP_001615.2

    Status: VALIDATED

    Source sequence(s)
    AK056705, AL359292, AL390074, U83115
    Consensus CDS
    CCDS34506.1
    UniProtKB/Swiss-Prot
    Q9Y4K1
    UniProtKB/TrEMBL
    B3KPT0
    Related
    ENSP00000358062.3, ENST00000369066.7
    Conserved Domains (5) summary
    smart00247
    Location:10231114
    XTALbg; Beta/gamma crystallins
    smart00458
    Location:15941716
    RICIN; Ricin-type beta-trefoil
    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
    pfam15304
    Location:29207
    AKAP2_C; A-kinase anchor protein 2 C-terminus

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    106360808..106570449
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266839.3XP_005266896.1  beta/gamma crystallin domain-containing protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A0J9YWL0
    Related
    ENSP00000488010.1, ENST00000633556.1
    Conserved Domains (5) summary
    smart00247
    Location:14311522
    XTALbg; Beta/gamma crystallins
    smart00458
    Location:20022124
    RICIN; Ricin-type beta-trefoil
    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
    pfam15304
    Location:437615
    AKAP2_C; A-kinase anchor protein 2 C-terminus
  2. XM_017010333.1XP_016865822.1  beta/gamma crystallin domain-containing protein 1 isoform X2

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