CRYGS

CRYGS
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1HA4, 2M3T, 2M3U
Identifiers
Aliases	CRYGS , CRYG8, CTRCT20, crystallin gamma S
External IDs	OMIM: 123730 MGI: 1298216 HomoloGene: 40695 GeneCards: CRYGS
Gene location (Human) Chr. Chromosome 3 (human) [1] Band 3q27.3 Start 186,538,441 bp [1] End 186,546,702 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16 B1|16 13.66 cM Start 22,623,953 bp [2] End 22,630,327 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in anterior segment of eyeball mirror cerebellar hemisphere right lobe of liver spleen body of pancreas right lobe of thyroid gland left lobe of thyroid gland right uterine tube tibial nerve Top expressed in corneal stroma ciliary body retinal pigment epithelium conjunctival fornix iris morula sciatic nerve entorhinal cortex extraocular muscle sexually immature organism More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 1427 12970 Ensembl ENSG00000213139 ENSMUSG00000033501 UniProt P22914 O35486 RefSeq (mRNA) NM_017541 NM_009967 RefSeq (protein) NP_060011 NP_034097 Location (UCSC) Chr 3: 186.54 – 186.55 Mb Chr 16: 22.62 – 22.63 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Gamma-crystallin S is a protein that in humans is encoded by the CRYGS gene. ^[5]

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. ^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000213139 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000033501 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: CRYGS crystallin, gamma S".

External links

• Human CRYGS genome location and CRYGS gene details page in the UCSC Genome Browser .

Further reading

• Graw J (1998). "The crystallins: genes, proteins and diseases". Biol. Chem. 378 (11): 1331–48. doi:10.1515/bchm.1997.378.11.1299. PMID   9426193.
• Slingsby C, Clout NJ (2000). "Structure of the crystallins". Eye. 13 ( Pt 3b) (3): 395–402. doi: 10.1038/eye.1999.113 . PMID   10627816.
• Zarina S, Abbasi A, Zaidi ZH (1992). "Primary structure of beta s-crystallin from human lens". Biochem. J. 287 (Pt 2): 375–81. doi:10.1042/bj2870375. PMC   1133175 . PMID   1445197.
• Brakenhoff RH, Aarts HJ, Reek FH, et al. (1991). "Human gamma-crystallin genes. A gene family on its way to extinction". J. Mol. Biol. 216 (3): 519–32. doi:10.1016/0022-2836(90)90380-5. PMID   2258929.
• Meakin SO, Du RP, Tsui LC, Breitman ML (1987). "Gamma-crystallins of the human eye lens: expression analysis of five members of the gene family". Mol. Cell. Biol. 7 (8): 2671–9. doi:10.1128/mcb.7.8.2671. PMC   367883 . PMID   3670288.
• Smith JB, Yang Z, Lin P, et al. (1995). "The complete sequence of human lens gamma s-crystallin". Biochem. J. 307 (Pt 2): 407–10. doi:10.1042/bj3070407. PMC   1136663 . PMID   7733876.
• Zarina S, Slingsby C, Jaenicke R, et al. (1995). "Three-dimensional model and quaternary structure of the human eye lens protein gamma S-crystallin based on beta- and gamma-crystallin X-ray coordinates and ultracentrifugation". Protein Sci. 3 (10): 1840–6. doi:10.1002/pro.5560031023. PMC   2142617 . PMID   7849599.
• Lampi KJ, Ma Z, Shih M, et al. (1997). "Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens". J. Biol. Chem. 272 (4): 2268–75. doi: 10.1074/jbc.272.4.2268 . PMID   8999933.
• Wistow G, Sardarian L, Gan W, Wyatt MK (2000). "The human gene for gammaS-crystallin: alternative transcripts and expressed sequences from the first intron". Mol. Vis. 6: 79–84. PMID   10837510.
• Purkiss AG, Bateman OA, Goodfellow JM, et al. (2002). "The X-ray crystal structure of human gamma S-crystallin C-terminal domain". J. Biol. Chem. 277 (6): 4199–205. doi: 10.1074/jbc.M110083200 . PMID   11706012.
• MacCoss MJ, McDonald WH, Saraf A, et al. (2002). "Shotgun identification of protein modifications from protein complexes and lens tissue". Proc. Natl. Acad. Sci. U.S.A. 99 (12): 7900–5. Bibcode:2002PNAS...99.7900M. doi: 10.1073/pnas.122231399 . PMC   122992 . PMID   12060738.
• Lapko VN, Purkiss AG, Smith DL, Smith JB (2002). "Deamidation in human gamma S-crystallin from cataractous lenses is influenced by surface exposure". Biochemistry. 41 (27): 8638–48. doi:10.1021/bi015924t. PMID   12093281.
• Lapko VN, Smith DL, Smith JB (2003). "S-methylated cysteines in human lens gamma S-crystallins". Biochemistry. 41 (50): 14645–51. doi:10.1021/bi0267700. PMID   12475213.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Annunziata O, Ogun O, Benedek GB (2003). "Observation of liquid–liquid phase separation for eye lens γS-crystallin". Proc. Natl. Acad. Sci. U.S.A. 100 (3): 970–4. Bibcode:2003PNAS..100..970A. doi: 10.1073/pnas.242746499 . PMC   298710 . PMID   12529503.
• Craghill J, Cronshaw AD, Harding JJ (2004). "The identification of a reaction site of glutathione mixed-disulphide formation on gammaS-crystallin in human lens". Biochem. J. 379 (Pt 3): 595–600. doi:10.1042/BJ20031367. PMC   1224128 . PMID   14763903.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Sun H, Ma Z, Li Y, et al. (2006). "Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans". J. Med. Genet. 42 (9): 706–10. doi:10.1136/jmg.2004.028274. PMC   1736139 . PMID   16141006.