CRYBB1

CRYBB1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1OKI
Identifiers
Aliases	CRYBB1 , CATCN3, CTRCT17, crystallin beta B1
External IDs	OMIM: 600929 MGI: 104992 HomoloGene: 1423 GeneCards: CRYBB1
Gene location (Human) Chr. Chromosome 22 (human) [1] Band 22q12.1 Start 26,599,278 bp [1] End 26,618,027 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5 F|5 54.63 cM Start 112,403,681 bp [2] End 112,417,451 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in prefrontal cortex appendix right coronary artery Brodmann area 9 spleen gallbladder corpus epididymis Right adrenal gland cingulate gyrus lymph node Top expressed in mirror conjunctival fornix retinal pigment epithelium ciliary body iris cornea masseter muscle temporal muscle sternocleidomastoid muscle sexually immature organism More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 1414 12960 Ensembl ENSG00000100122 ENSMUSG00000029343 UniProt P53674 Q9WVJ5 RefSeq (mRNA) NM_001887 NM_023695 NM_001312893 NM_001312894 NM_001312895 RefSeq (protein) NP_001878 NP_001299822 NP_001299823 NP_001299824 NP_076184 Location (UCSC) Chr 22: 26.6 – 26.62 Mb Chr 5: 112.4 – 112.42 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Beta-crystallin B1 is a protein that in humans is encoded by the CRYBB1 gene. ^{[5] [6]} Variants in CRYBB1 are associated with autosomal dominant congenital cataract. ^{[7] [8]}

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, undergoes extensive cleavage at its N-terminal extension during lens maturation. It is also a member of a gene cluster with beta-A4, beta-B2, and beta-B3. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000100122 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000029343 - 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. Hulsebos TJ, Gilbert DJ, Delattre O, Smink LJ, Dunham I, Westerveld A, Thomas G, Jenkins NA, Copeland NG (Mar 1996). "Assignment of the beta B1 crystallin gene (CRYBB1) to human chromosome 22 and mouse chromosome 5". Genomics. 29 (3): 712–8. doi:10.1006/geno.1995.9947. PMID   8575764.
6. "Entrez Gene: CRYBB1 crystallin, beta B1".
7. Mackay DS, Boskovska OB, Knopf HL, Lampi KJ, Shiels A (Oct 2002). "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.
8. Siggs OM, Javadiyan S, Sharma S, Souzeau E, Lower KM, Taranath DA, et al. (June 2017). "Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract". Eur. J. Hum. Genet. 25 (6): 711–718. doi:10.1038/ejhg.2017.33. PMC   5477362 . PMID   28272538.

External links

• Human CRYBB1 genome location and CRYBB1 gene details page in the UCSC Genome Browser .
• Overview of all the structural information available in the PDB for UniProt : P53674 (Beta-crystallin B1) at the PDBe-KB .

Further reading

• David LL, Lampi KJ, Lund AL, Smith JB (1996). "The sequence of human betaB1-crystallin cDNA allows mass spectrometric detection of betaB1 protein missing portions of its N-terminal extension". J. Biol. Chem. 271 (8): 4273–9. doi: 10.1074/jbc.271.8.4273 . PMID   8626774.
• Lampi KJ; Ma Z; Hanson SR; et al. (1998). "Age-related changes in human lens crystallins identified by two-dimensional electrophoresis and mass spectrometry". Exp. Eye Res. 67 (1): 31–43. doi:10.1006/exer.1998.0481. PMID   9702176.
• 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.
• Stempel D; Sandusky H; Lampi K; et al. (2003). "BetaB1-crystallin: identification of a candidate ciliary body uveitis antigen". Invest. Ophthalmol. Vis. Sci. 44 (1): 203–9. doi: 10.1167/iovs.01-1261 . PMID   12506076.
• Babenko AP, Bryan J (2004). "Sur domains that associate with and gate KATP pores define a novel gatekeeper". J. Biol. Chem. 278 (43): 41577–80. doi: 10.1074/jbc.C300363200 . PMID   12941953.
• Van Montfort RL, Bateman OA, Lubsen NH, Slingsby C (2004). "Crystal structure of truncated human betaB1-crystallin". Protein Sci. 12 (11): 2606–12. doi:10.1110/ps.03265903. PMC   2366963 . PMID   14573871.
• Harms MJ; Wilmarth PA; Kapfer DM; et al. (2004). "Laser light-scattering evidence for an altered association of beta B1-crystallin deamidated in the connecting peptide". Protein Sci. 13 (3): 678–86. doi:10.1110/ps.03427504. PMC   2286738 . PMID   14978307.
• 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.
• Annunziata O; Pande A; Pande J; et al. (2005). "Oligomerization and phase transitions in aqueous solutions of native and truncated human beta B1-crystallin". Biochemistry. 44 (4): 1316–28. CiteSeerX   10.1.1.330.9588 . doi:10.1021/bi048419f. PMID   15667225.
• Willoughby CE; Shafiq A; Ferrini W; et al. (2006). "CRYBB1 mutation associated with congenital cataract and microcornea". Mol. Vis. 11: 587–93. PMID   16110300.
• Hou HH, Kuo MY, Luo YW, Chang BE (2006). "Recapitulation of human betaB1-crystallin promoter activity in transgenic zebrafish". Dev. Dyn. 235 (2): 435–43. doi: 10.1002/dvdy.20652 . PMID   16331646.
• Smith MA, Bateman OA, Jaenicke R, Slingsby C (2007). "Mutation of interfaces in domain-swapped human betaB2-crystallin". Protein Sci. 16 (4): 615–25. doi:10.1110/ps.062659107. PMC   2203347 . PMID   17327390.
• Koteiche HA, Kumar MS, McHaourab HS (2007). "Analysis of betaB1-crystallin unfolding equilibrium by spin and fluorescence labeling: evidence of a dimeric intermediate". FEBS Lett. 581 (10): 1933–8. doi:10.1016/j.febslet.2007.04.004. PMC   2394508 . PMID   17448466.
• Cohen D; Bar-Yosef U; Levy J; et al. (2007). "Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract". Invest. Ophthalmol. Vis. Sci. 48 (5): 2208–13. doi: 10.1167/iovs.06-1019 . PMID   17460281.
• Wang J; Ma X; Gu F; et al. (2007). "A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract". Chin. Med. J. 120 (9): 820–4. doi: 10.1097/00029330-200705010-00015 . PMID   17531125.