CRYBB3

CRYBB3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3QK3
Identifiers
Aliases	CRYBB3 , CATCN2, CRYB3, CTRCT22, crystallin beta B3
External IDs	OMIM: 123630; MGI: 102717; HomoloGene: 3008; GeneCards: CRYBB3; OMA:CRYBB3 - orthologs
Gene location (Human) Chr. Chromosome 22 (human) [1] Band 22q11.23 Start 25,199,858 bp [1] End 25,207,359 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5 F|5 55.38 cM Start 113,075,839 bp [2] End 113,081,584 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle mucosa of transverse colon right lobe of liver lens left lobe of thyroid gland right lobe of thyroid gland human kidney minor salivary glands right uterine tube ascending aorta Top expressed in lens epithelium of lens conjunctival fornix retinal pigment epithelium ciliary body neural layer of retina iris cornea embryo embryo More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 1417 12962 Ensembl ENSG00000100053 ENSMUSG00000029352 UniProt P26998 Q9JJU9 RefSeq (mRNA) NM_004076 NM_001159650 NM_021352 RefSeq (protein) NP_004067 NP_001153122 NP_067327 NP_001345933 NP_001345934 NP_001345935 NP_001345936 NP_001345937 Location (UCSC) Chr 22: 25.2 – 25.21 Mb Chr 5: 113.08 – 113.08 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Beta-crystallin B3 is a protein that in humans is encoded by the CRYBB3 gene. ^{[5] [6]}

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.

Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000100053 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000029352 – 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. Lampi KJ, Ma Z, Shih M, Shearer TR, Smith JB, Smith DL, David LL (Feb 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.
6. "Entrez Gene: CRYBB3 crystallin, beta B3".

External links

• Human CRYBB3 genome location and CRYBB3 gene details page in the UCSC Genome Browser .

Further reading

• Aarts HJ, Jacobs EH, van Willigen G, et al. (1989). "Different evolution rates within the lens-specific beta-crystallin gene family". J. Mol. Evol. 28 (4): 313–21. Bibcode:1989JMolE..28..313A. doi:10.1007/BF02103427. PMID   2499686. S2CID   40148208.
• Kramer P, Yount J, Mitchell T, et al. (1996). "A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22". Genomics. 35 (3): 539–42. doi: 10.1006/geno.1996.0395 . PMID   8812489.
• Kimoto Y (1997). "A possibility of all mRNA expression in a human single lymphocyte". Hum. Cell. 9 (4): 367–70. PMID   9183670.
• Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. Bibcode:1999Natur.402..489D. doi: 10.1038/990031 . PMID   10591208.
• 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.
• Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi: 10.1186/gb-2004-5-10-r84 . PMC   545604 . PMID   15461802.
• 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.
• Riazuddin SA, Yasmeen A, Yao W, et al. (2005). "Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families". Invest. Ophthalmol. Vis. Sci. 46 (6): 2100–6. doi:10.1167/iovs.04-1481. PMID   15914629.