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CRYGS crystallin gamma S [ Homo sapiens (human) ]

Gene ID: 1427, updated on 8-May-2016
Official Symbol
CRYGSprovided by HGNC
Official Full Name
crystallin gamma Sprovided by HGNC
Primary source
HGNC:HGNC:2417
See related
Ensembl:ENSG00000213139 HPRD:00439; MIM:123730
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CRYG8; CTRCT20
Summary
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. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]
Orthologs
Location:
3q27.3
Exon count:
3
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (186538443..186544378, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (186256232..186263049, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene diacylglycerol kinase gamma Neighboring gene uncharacterized LOC253573 Neighboring gene TBCC domain containing 1 Neighboring gene DnaJ heat shock protein family (Hsp40) member B11

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Cataract, membranous
MedGen: C0524524 OMIM: 116100 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
A genome-wide association study of behavioral disinhibition.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
integrase gag-pol A crystallin variant, derived from the C-terminal domain of the eye lens protein human gammaS-crystallin, interacts with the integrase C-terminal domain and inhibits integrase substrate affinity PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
structural constituent of eye lens IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
lens development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
morphogenesis of an epithelium IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
beta-crystallin S
Names
crystallin, gamma 8
crystallin, gamma S
gamma-S-crystallin
gamma-crystallin S

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.

Genomic

  1. NG_009829.1 RefSeqGene

    Range
    5001..10936
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017541.2NP_060011.1  beta-crystallin S

    See identical proteins and their annotated locations for NP_060011.1

    Status: REVIEWED

    Source sequence(s)
    AH009380
    Consensus CDS
    CCDS3275.1
    UniProtKB/Swiss-Prot
    P22914
    Related
    ENSP00000312099, OTTHUMP00000210174, ENST00000307944, OTTHUMT00000344785
    Conserved Domains (2) summary
    smart00247
    Location:784
    XTALbg; Beta/gamma crystallins
    pfam00030
    Location:95176
    Crystall; Beta/Gamma crystallin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

    Range
    186538443..186544378 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    186220170..186226105 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)