Crystallin, beta A1

Last updated • 1 min readFrom Wikipedia, The Free Encyclopedia
CRYBA1
Identifiers
Aliases CRYBA1 , CRYB1, CTRCT10, crystallin beta A1
External IDs OMIM: 123610 MGI: 88518 HomoloGene: 3815 GeneCards: CRYBA1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005208

NM_009965
NM_001313933

RefSeq (protein)

NP_005199

NP_001300862
NP_034095

Location (UCSC) Chr 17: 29.25 – 29.25 Mb Chr 11: 77.61 – 77.62 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Beta-crystallin A3 is a protein that in humans is encoded by the CRYBA1 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, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease 'zonular cataract with sutural opacities'. [7]

Related Research Articles

<span class="mw-page-title-main">WFS1</span>

Wolframin is a protein that in humans is encoded by the WFS1 gene.

<span class="mw-page-title-main">Crystallin, gamma D</span>

Gamma-crystallin D is a protein that in humans is encoded by the CRYGD gene.

<span class="mw-page-title-main">Lens fiber major intrinsic protein</span>

Lens fiber major intrinsic protein also known as aquaporin-0 is a protein that in humans is encoded by the MIP gene.

<span class="mw-page-title-main">CRYBB2</span>

Beta-crystallin B2 is a protein that in humans is encoded by the CRYBB2 gene.

<span class="mw-page-title-main">PRKCSH</span> Protein-coding gene in the species Homo sapiens

Glucosidase 2 subunit beta is an enzyme that in humans is encoded by the PRKCSH gene.

<span class="mw-page-title-main">CRYGC</span>

Crystallin, gamma C, also known as CRYGC, is a protein which in humans is encoded by the CRYGC gene.

<span class="mw-page-title-main">GJB3</span> Mammalian protein found in Homo sapiens

Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a protein that in humans is encoded by the GJB3 gene.

<span class="mw-page-title-main">GJA3</span>

Gap junction alpha-3 protein is a protein that in humans is encoded by the GJA3 gene.

<span class="mw-page-title-main">CRYBB1</span>

Beta-crystallin B1 is a protein that in humans is encoded by the CRYBB1 gene. Variants in CRYBB1 are associated with autosomal dominant congenital cataract.

<span class="mw-page-title-main">CRYGB</span>

Gamma-crystallin B is a protein that in humans is encoded by the CRYGB gene.

<span class="mw-page-title-main">CRYGS</span>

Gamma-crystallin S is a protein that in humans is encoded by the CRYGS gene.

<span class="mw-page-title-main">GJA8</span> Protein-coding gene in the species Homo sapiens

Gap junction alpha-8 protein is a protein that in humans is encoded by the GJA8 gene. It is also known as connexin 50.

<span class="mw-page-title-main">HSF4</span> Protein-coding gene in the species Homo sapiens

Heat shock factor protein 4 is a protein that in humans is encoded by the HSF4 gene.

<span class="mw-page-title-main">CRYBA4</span>

Beta-crystallin A4 is a protein that in humans is encoded by the CRYBA4 gene.

<span class="mw-page-title-main">BFSP2</span>

BFSP2 is a gene that encodes the protein phakinin in humans.

<span class="mw-page-title-main">CRYBB3</span>

Beta-crystallin B3 is a protein that in humans is encoded by the CRYBB3 gene.

<span class="mw-page-title-main">CRYGA</span> Protein-coding gene in the species Homo sapiens

Gamma-crystallin A is a protein that in humans is encoded by the CRYGA gene.

<span class="mw-page-title-main">LIM2</span> Protein-coding gene in the species Homo sapiens

Lens fiber membrane intrinsic protein is a protein that in humans is encoded by the LIM2 gene.

<span class="mw-page-title-main">CRYAA</span> Protein-coding gene in the species Homo sapiens

Alpha-crystallin A chain is a protein that in humans is encoded by the CRYAA gene.

<span class="mw-page-title-main">FOXE3</span> Protein-coding gene in the species Homo sapiens

Forkhead box protein E3 (FOXE3) also known as forkhead-related transcription factor 8 (FREAC-8) is a protein that in humans is encoded by the FOXE3 gene located on the short arm of chromosome 1.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000108255 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000000724 - 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. Hogg D, Tsui LC, Gorin M, Breitman ML (Oct 1986). "Characterization of the human beta-crystallin gene Hu beta A3/A1 reveals ancestral relationships among the beta gamma-crystallin superfamily". J Biol Chem. 261 (26): 12420–7. doi: 10.1016/S0021-9258(18)67257-6 . PMID   3745196.
  6. Sparkes RS, Mohandas T, Heinzmann C, Gorin MB, Zollman S, Horwitz J (Nov 1986). "Assignment of a human beta-crystallin gene to 17cen-q23". Hum Genet. 74 (2): 133–6. doi:10.1007/BF00282076. PMID   3770741. S2CID   7875247.
  7. 1 2 "Entrez Gene: CRYBA1 crystallin, beta A1".

Further reading