Crystallin, gamma D

CRYGD
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1H4A, 1HK0, 2G98, 2KFB, 2KLJ, 4GR7, 4JGF
Identifiers
Aliases	CRYGD , CACA, CCA3, CCP, CRYG4, CTRCT4, PCC, cry-g-D, crystallin gamma D
External IDs	OMIM: 123690 MGI: 88524 HomoloGene: 36213 GeneCards: CRYGD
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2q33.3 Start 208,121,607 bp [1] End 208,124,524 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1 C2|1 32.8 cM Start 65,101,031 bp [2] End 65,102,611 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence mirror hypothalamus substantia nigra prefrontal cortex temporal lobe amygdala dorsolateral prefrontal cortex Brodmann area 9 putamen Top expressed in conjunctival fornix retinal pigment epithelium occiput ciliary body occipital bone iris Meckel's cartilage rib sphenoid bone lateral part of occipital bone More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding structural constituent of eye lens Cellular component nucleus cytoplasm Biological process cellular response to reactive oxygen species response to stimulus visual perception lens development in camera-type eye lens fiber cell differentiation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1421 12967 Ensembl ENSG00000118231 ENSG00000285434 ENSMUSG00000067299 UniProt P07320 P04342 RefSeq (mRNA) NM_006891 NM_007776 RefSeq (protein) NP_008822 NP_031802 Location (UCSC) Chr 2: 208.12 – 208.12 Mb Chr 1: 65.1 – 65.1 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Gamma-crystallin D is a protein that in humans is encoded by the CRYGD 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. ENSG00000285434 GRCh38: Ensembl release 89: ENSG00000118231, ENSG00000285434 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000067299 - 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: CRYGD crystallin, gamma D".

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.
• 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.
• Lubsen NH, Renwick JH, Tsui LC, et al. (1987). "A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family". Proc. Natl. Acad. Sci. U.S.A. 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 (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.
• Meakin SO, Breitman ML, Tsui LC (1985). "Structural and evolutionary relationships among five members of the human gamma-crystallin gene family". Mol. Cell. Biol. 5 (6): 1408–14. doi:10.1128/mcb.5.6.1408. PMC   366871 . PMID   4033658.
• Rogaev EI, Rogaeva EA, Korovaitseva GI, et al. (1997). "Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35". Hum. Mol. Genet. 5 (5): 699–703. doi: 10.1093/hmg/5.5.699 . PMID   8733140.
• Andley UP, Mathur S, Griest TA, Petrash JM (1997). "Cloning, expression, and chaperone-like activity of human alphaA-crystallin". J. Biol. Chem. 271 (50): 31973–80. doi: 10.1074/jbc.271.50.31973 . PMID   8943244.
• 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.
• Stephan DA, Gillanders E, Vanderveen D, et al. (1999). "Progressive juvenile-onset punctate cataracts caused by mutation of the γD-crystallin gene". Proc. Natl. Acad. Sci. U.S.A. 96 (3): 1008–12. Bibcode:1999PNAS...96.1008S. doi: 10.1073/pnas.96.3.1008 . PMC   15341 . PMID   9927684.
• Héon E, Priston M, Schorderet DF, et al. (1999). "The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer". Am. J. Hum. Genet. 65 (5): 1261–7. doi:10.1086/302619. PMC   1288278 . PMID   10521291.
• Pande A, Pande J, Asherie N, et al. (2000). "Molecular basis of a progressive juvenile-onset hereditary cataract". Proc. Natl. Acad. Sci. U.S.A. 97 (5): 1993–8. Bibcode:2000PNAS...97.1993P. doi: 10.1073/pnas.040554397 . PMC   15742 . PMID   10688888.
• Kmoch S, Brynda J, Asfaw B, et al. (2000). "Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography". Hum. Mol. Genet. 9 (12): 1779–86. doi: 10.1093/hmg/9.12.1779 . PMID   10915766.
• Pande A, Pande J, Asherie N, et al. (2001). "Crystal cataracts: Human genetic cataract caused by protein crystallization". Proc. Natl. Acad. Sci. U.S.A. 98 (11): 6116–20. Bibcode:2001PNAS...98.6116P. doi: 10.1073/pnas.101124798 . PMC   33431 . PMID   11371638.
• 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.
• 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.
• 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.