CRYGA

CRYGA
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1LER
Identifiers
Aliases	CRYGA , CRY-g-A, CRYG1, CRYG5, crystallin gamma A
External IDs	OMIM: 123660 MGI: 88521 HomoloGene: 129704 GeneCards: CRYGA
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2q33.3 Start 208,160,740 bp [1] End 208,163,589 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1 C2|1 32.84 cM Start 65,139,548 bp [2] End 65,142,532 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 9 prefrontal cortex nucleus accumbens putamen superior frontal gyrus amygdala caudate nucleus hypothalamus hippocampal formation hippocampus proper Top expressed in mirror kidney blastocyst hypothalamus hippocampus proper olfactory bulb superior frontal gyrus renal cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function structural constituent of eye lens Cellular component cellular component Biological process eye development visual perception lens development in camera-type eye Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1418 12964 Ensembl ENSG00000168582 ENSMUSG00000044429 UniProt P11844 P04345 RefSeq (mRNA) NM_014617 NM_007774 RefSeq (protein) NP_055432 NP_031800 Location (UCSC) Chr 2: 208.16 – 208.16 Mb Chr 1: 65.14 – 65.14 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Gamma-crystallin A is a protein that in humans is encoded by the CRYGA 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. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly 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. ^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000168582 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000044429 - 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: CRYGA crystallin, gamma A".

External links

• Human CRYGA genome location and CRYGA 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.
• 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.
• den Dunnen JT, Jongbloed RJ, Geurts van Kessel AH, Schoenmakers JG (1985). "Human lens gamma-crystallin sequences are located in the p12-qter region of chromosome 2". Hum. Genet. 70 (3): 217–21. doi:10.1007/bf00273445. PMID   2991114. S2CID   23745896.
• Shiloh Y, Donlon T, Bruns G, et al. (1986). "Assignment of the human gamma-crystallin gene cluster (CRYG) to the long arm of chromosome 2, region q33-36". Hum. Genet. 73 (1): 17–9. doi:10.1007/BF00292656. PMID   3011643. S2CID   27997711.
• 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.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID   8889548.
• Santhiya ST, Shyam Manohar M, Rawlley D, et al. (2002). "Novel mutations in the γ-crystallin genes cause autosomal dominant congenital cataracts". J. Med. Genet. 39 (5): 352–8. doi:10.1136/jmg.39.5.352. PMC   1735119 . PMID   12011157.
• 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.
• Salim A, Zaidi ZH (2003). "Homology models of human gamma-crystallins: structural study of the extensive charge network in gamma-crystallins". Biochem. Biophys. Res. Commun. 300 (3): 624–30. doi:10.1016/S0006-291X(02)02895-4. PMID   12507494.