CRYGC

CRYGC
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2NBR
Identifiers
Aliases	CRYGC , CCL, CRYG3, CTRCT2, crystallin gamma C
External IDs	OMIM: 123680; MGI: 88523; HomoloGene: 36281; GeneCards: CRYGC; OMA:CRYGC - orthologs
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2q33.3 Start 208,128,137 bp [1] End 208,129,828 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1 C2|1 32.81 cM Start 65,110,684 bp [2] End 65,112,848 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle gonad left testis right testis gastric mucosa duodenum hypothalamus islet of Langerhans C1 segment pituitary gland Top expressed in lens cornea corneal stroma urethra female urethra blastocyst male urethra epithelium of urethra epithelium of male urethra epithelium of female urethra More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding structural constituent of eye lens Cellular component cytoplasm nucleus Biological process visual perception lens development in camera-type eye Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1420 12966 Ensembl ENSG00000163254 ENSG00000285011 ENSMUSG00000025952 UniProt P07315 Q61597 RefSeq (mRNA) NM_020989 NM_001082573 NM_007775 RefSeq (protein) NP_066269 NP_001076042 NP_031801 Location (UCSC) Chr 2: 208.13 – 208.13 Mb Chr 1: 65.11 – 65.11 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Crystallin, gamma C, also known as CRYGC, is a protein which in humans is encoded by the CRYGC gene. ^{[5] [6]}

Function

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. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. ^[6]

Interactions

CRYGC has been shown to interact with CRYBB2, ^[7] CRYAA ^[7] and CRYAB. ^[7]

References

1. ENSG00000285011 GRCh38: Ensembl release 89: ENSG00000163254, ENSG00000285011 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025952 – 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. den Dunnen JT, Moormann RJ, Cremers FP, Schoenmakers JG (1985). "Two human gamma-crystallin genes are linked and riddled with Alu-repeats". Gene. 38 (1–3): 197–204. doi:10.1016/0378-1119(85)90218-5. PMID   4065573.
6. "Entrez Gene: CRYGC crystallin, gamma C".
7. Fu L, Liang JJ (February 2002). "Detection of protein-protein interactions among lens crystallins in a mammalian two-hybrid system assay". The Journal of Biological Chemistry. 277 (6): 4255–60. doi: 10.1074/jbc.M110027200 . PMID   11700327.

External links

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

Further reading

• Graw J (November 1997). "The crystallins: genes, proteins and diseases". Biological Chemistry. 378 (11): 1331–48. doi:10.1515/bchm.1997.378.11.1299. PMID   9426193.
• Slingsby C, Clout NJ (June 1999). "Structure of the crystallins". Eye. 13. 13 ( Pt 3b) (3): 395–402. doi: 10.1038/eye.1999.113 . PMID   10627816.
• Hearne CM, Todd JA (October 1991). "Trinucleotide repeat polymorphism at the CRYG1 locus". Nucleic Acids Research. 19 (19): 5450. doi:10.1093/nar/19.19.5450-a. PMC   328932 . PMID   1923840.
• Brakenhoff RH, Aarts HJ, Reek FH, Lubsen NH, Schoenmakers JG (December 1990). "Human gamma-crystallin genes. A gene family on its way to extinction". Journal of Molecular Biology. 216 (3): 519–32. doi:10.1016/0022-2836(90)90380-5. PMID   2258929.
• den Dunnen JT, van Neck JW, Cremers FP, Lubsen NH, Schoenmakers JG (May 1989). "Nucleotide sequence of the rat gamma-crystallin gene region and comparison with an orthologous human region". Gene. 78 (2): 201–13. doi:10.1016/0378-1119(89)90223-0. PMID   2777080.
• Shiloh Y, Donlon T, Bruns G, Breitman ML, Tsui LC (May 1986). "Assignment of the human gamma-crystallin gene cluster (CRYG) to the long arm of chromosome 2, region q33-36". Human Genetics. 73 (1): 17–9. doi:10.1007/BF00292656. PMID   3011643. S2CID   27997711.
• Lubsen NH, Renwick JH, Tsui LC, Breitman ML, Schoenmakers JG (January 1987). "A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family". Proceedings of the National Academy of Sciences of the United States of America. 84 (2): 489–92. Bibcode:1987PNAS...84..489L. doi: 10.1073/pnas.84.2.489 . PMC   304234 . PMID   3025877.
• Meakin SO, Du RP, Tsui LC, Breitman ML (August 1987). "Gamma-crystallins of the human eye lens: expression analysis of five members of the gene family". Molecular and Cellular Biology. 7 (8): 2671–9. doi:10.1128/mcb.7.8.2671. PMC   367883 . PMID   3670288.
• Meakin SO, Breitman ML, Tsui LC (June 1985). "Structural and evolutionary relationships among five members of the human gamma-crystallin gene family". Molecular and Cellular Biology. 5 (6): 1408–14. doi:10.1128/mcb.5.6.1408. PMC   366871 . PMID   4033658.
• den Dunnen JT, Moormann RJ, Cremers FP, Schoenmakers JG (1986). "Two human gamma-crystallin genes are linked and riddled with Alu-repeats". Gene. 38 (1–3): 197–204. doi:10.1016/0378-1119(85)90218-5. PMID   4065573.
• Andley UP, Mathur S, Griest TA, Petrash JM (December 1996). "Cloning, expression, and chaperone-like activity of human alphaA-crystallin". The Journal of Biological Chemistry. 271 (50): 31973–80. doi: 10.1074/jbc.271.50.31973 . PMID   8943244.
• Lampi KJ, Ma Z, Shih M, Shearer TR, Smith JB, Smith DL, David LL (January 1997). "Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens". The Journal of Biological Chemistry. 272 (4): 2268–75. doi: 10.1074/jbc.272.4.2268 . PMID   8999933.
• Héon E, Priston M, Schorderet DF, Billingsley GD, Girard PO, Lubsen N, Munier FL (November 1999). "The gamma-crystallins and human cataracts: a puzzle made clearer". American Journal of Human Genetics. 65 (5): 1261–7. doi:10.1086/302619. PMC   1288278 . PMID   10521291.
• Ren Z, Li A, Shastry BS, Padma T, Ayyagari R, Scott MH, Parks MM, Kaiser-Kupfer MI, Hejtmancik JF (May 2000). "A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract". Human Genetics. 106 (5): 531–7. doi:10.1007/s004390000289. hdl: 2027.42/42265 . PMID   10914683.
• Fu L, Liang JJ (February 2002). "Detection of protein-protein interactions among lens crystallins in a mammalian two-hybrid system assay". The Journal of Biological Chemistry. 277 (6): 4255–60. doi: 10.1074/jbc.M110027200 . PMID   11700327.
• Fu L, Liang JJ (February 2002). "Conformational change and destabilization of cataract gammaC-crystallin T5P mutant". FEBS Letters. 513 (2–3): 213–6. doi:10.1016/S0014-5793(02)02313-X. PMID   11904153. S2CID   84645424.
• Santhiya ST, Shyam Manohar M, Rawlley D, Vijayalakshmi P, Namperumalsamy P, Gopinath PM, Löster J, Graw J (May 2002). "Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts". Journal of Medical Genetics. 39 (5): 352–8. doi:10.1136/jmg.39.5.352. PMC   1735119 . PMID   12011157.
• MacCoss MJ, McDonald WH, Saraf A, Sadygov R, Clark JM, Tasto JJ, Gould KL, Wolters D, Washburn M, Weiss A, Clark JI, Yates JR (June 2002). "Shotgun identification of protein modifications from protein complexes and lens tissue". Proceedings of the National Academy of Sciences of the United States of America. 99 (12): 7900–5. Bibcode:2002PNAS...99.7900M. doi: 10.1073/pnas.122231399 . PMC   122992 . PMID   12060738.