Cryba1 crystallin, beta A1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cryba1provided by MGI
Official Full Name: crystallin, beta A1provided by MGI
Primary source: MGI:MGI:88518
See related: Ensembl:ENSMUSG00000000724 AllianceGenome:MGI:88518
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cryb; BA3/A1
Summary: Mammalian lens crystallins are divided into alpha, beta, and gamma families. 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 11 B5; 11 46.74 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (77609440..77616119, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (77718614..77725293, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lens-specific betaA3/A1-conditional knockout mice: Phenotypic characteristics and calpain activation causing protein degradation and insolubilization.
Title: Lens-specific βA3/A1-conditional knockout mice: Phenotypic characteristics and calpain activation causing protein degradation and insolubilization.
betaA3/A1-crystallin regulates apical polarity and EGFR endocytosis in retinal pigmented epithelial cells.
Title: βA3/A1-crystallin regulates apical polarity and EGFR endocytosis in retinal pigmented epithelial cells.
betaA1-crystallin regulates glucose metabolism and mitochondrial function in mouse retinal astrocytes by modulating PTP1B activity.
Title: βA1-crystallin regulates glucose metabolism and mitochondrial function in mouse retinal astrocytes by modulating PTP1B activity.
CRYbetaA3/A1-crystallin has a role in preventing nuclear cataract impaired lysosomal cargo clearance and calpain activation
Title: CRYβA3/A1-Crystallin Knockout Develops Nuclear Cataract and Causes Impaired Lysosomal Cargo Clearance and Calpain Activation.
Data suggest a mechanism by which betaA3/A1-crystallin regulates lysosomal function by modulating the activity of V-ATPase.
Title: Modulation of V-ATPase by βA3/A1-Crystallin in Retinal Pigment Epithelial Cells.
Data show that betaA3/A1-crystallin affects the signal transducer and activator of transcription 3 (STAT3) activation in optic nerve astrocytes.
Title: βA3/A1-crystallin is a critical mediator of STAT3 signaling in optic nerve astrocytes.
loss of CRYBA1 causes lysosomal dysregulation leading to the impairment of both autophagy and phagocytosis
Title: Lysosomal-mediated waste clearance in retinal pigment epithelial cells is regulated by CRYBA1/βA3/A1-crystallin via V-ATPase-MTORC1 signaling.
p53 can regulate lens differentiation by controlling expression of the differentiation genes coding for the lens crystallins.
Title: p53 directly regulates αA- and βA3/A1-crystallin genes to modulate lens differentiation.
The thermodynamic consequences of the loss of beta A3-crystallin terminal extensions by in vivo proteolytic processing could increase their tendency to associate and so promote the formation of higher order associates in the aging and cataractous lens.
Title: Energetics of domain-domain interactions and entropy driven association of beta-crystallins.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11Bhm151 (e-PCR), detects polymorphism
- UniSTS:141589

Cryba1 (e-PCR), detects polymorphism
- UniSTS:498739

Cryba1 (e-PCR), detects polymorphism
- UniSTS:164682

Cryba1 (e-PCR), detects polymorphism
- UniSTS:256366

Cryba1 (e-PCR), detects polymorphism
- UniSTS:231400

NoName (e-PCR)
- UniSTS:484846

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of eye lens	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of eye lens	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lens development in camera-type eye	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of ERK1 and ERK2 cascade	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of TOR signaling	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cytokine production	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISO Inferred from Sequence Orthology more info
involved_in phagocytosis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of anoikis	ISO Inferred from Sequence Orthology more info
involved_in regulation of autophagy	ISO Inferred from Sequence Orthology more info
involved_in visual perception	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: beta-crystallin A1

Names: beta-A1-crystallin; beta-A3/A1-crystallin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001313933.1 → NP_001300862.1 beta-crystallin A1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate internal exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AJ239052, CK628527, CN539082

UniProtKB/TrEMBL

Q9QXC6

Conserved Domains (1) summary

smart00247
Location:32 → 72

XTALbg; Beta/gamma crystallins
NM_009965.3 → NP_034095.1 beta-crystallin A1 isoform 1

See identical proteins and their annotated locations for NP_034095.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AJ239052, CN539082

Consensus CDS

CCDS25084.1

UniProtKB/Swiss-Prot

P02525

UniProtKB/TrEMBL

Q9QXC6

Related

ENSMUSP00000077693.5, ENSMUST00000078623.5

Conserved Domains (2) summary

smart00247
Location:125 → 213

XTALbg; Beta/gamma crystallins

pfam00030
Location:32 → 116

Crystall; Beta/Gamma crystallin