CRYBA4

CRYBA4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3LWK
Identifiers
Aliases	CRYBA4 , CTRCT23, MCOPCT4, CYRBA4, crystallin beta A4
External IDs	OMIM: 123631 MGI: 102716 HomoloGene: 1422 GeneCards: CRYBA4
Gene location (Human) Chr. Chromosome 22 (human) [1] Band 22q12.1 Start 26,621,963 bp [1] End 26,630,669 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5|5 F Start 112,394,359 bp [2] End 112,400,384 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in spleen prefrontal cortex dorsolateral prefrontal cortex cingulate gyrus appendix spinal cord Brodmann area 9 rectum amygdala duodenum Top expressed in mirror conjunctival fornix ciliary body retinal pigment epithelium lip hair follicle adrenal gland iris cornea skin of abdomen More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding structural constituent of eye lens molecular function Cellular component cellular component Biological process camera-type eye development visual perception lens development in camera-type eye Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1413 12959 Ensembl ENSG00000196431 ENSMUSG00000066975 UniProt P53673 Q9JJV0 RefSeq (mRNA) NM_001886 NM_021351 NM_001312884 RefSeq (protein) NP_001877 NP_001877.1 NP_001299813 NP_067326 Location (UCSC) Chr 22: 26.62 – 26.63 Mb Chr 5: 112.39 – 112.4 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Beta-crystallin A4 is a protein that in humans is encoded by the CRYBA4 gene. ^{[5] [6] [7]}

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 acidic group member, is part of a gene cluster with beta-B1, beta-B2, and beta-B3. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000196431 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000066975 - 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. Schuschke G, Mielke U, Bodamer S, Rosenkranz M (Oct 1976). "[Feral domestic pigeons as a hygienic problem in big cities--the situation in Magdeburg]". Z Gesamte Hyg. 22 (1): 30–4. PMID   960806.
7. "Entrez Gene: CRYBA4 crystallin, beta A4".

External links

• Human CRYBA4 genome location and CRYBA4 gene details page in the UCSC Genome Browser .

Further reading

• Billingsley G, Santhiya ST, Paterson AD, et al. (2006). "CRYBA4, a novel human cataract gene, is also involved in microphthalmia". Am. J. Hum. Genet. 79 (4): 702–9. doi:10.1086/507712. PMC   1592554 . PMID   16960806.
• 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.
• 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.
• 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.
• Mackay DS, Boskovska OB, Knopf HL, et al. (2003). "A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q". Am. J. Hum. Genet. 71 (5): 1216–21. doi:10.1086/344212. PMC   385100 . PMID   12360425.
• 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.
• 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.
• 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.
• David LL, Shearer TR, Shih M (1993). "Sequence analysis of lens beta-crystallins suggests involvement of calpain in cataract formation". J. Biol. Chem. 268 (3): 1937–40. doi: 10.1016/S0021-9258(18)53944-2 . PMID   8420967.
• Bijlsma EK, Delattre O, Juyn JA, et al. (1994). "Regional fine mapping of the beta crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2". Genes Chromosomes Cancer. 8 (2): 112–8. doi:10.1002/gcc.2870080208. PMID   7504514. S2CID   31532867.
• van Rens GL, Geurts van Kessel AH, Bloemendal H (1992). "Localization of the beta A4-crystallin gene (CRYBA4) on human chromosome 22 in the region q11.2→q13.1". Cytogenet. Cell Genet. 61 (3): 180–3. doi:10.1159/000133403. PMID   1424806.