CRYBA1 - crystallin beta A1 Gene

Also Known as CRYB1; CTRCT10

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1411

About CRYBA1

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:29,246,859-29,254,494 (from NCBI)

This gene has 2 transcripts (splice variants), 204 orthologues, 14 paralogues and is associated with 7 phenotypes. Low expression observed in reference dataset.

Summary

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'. [provided by RefSeq, Jul 2008]

CRYBA1 Products (1)

mRNA	Protein	Name
NM_005208.5	NP_005199.2	beta-crystallin A3

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Referencias	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17046756	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CRYBA1 Protein Structure

Crystall

0
100
200
215 a.a.

Protein Preferred Names	Protein Names
beta-crystallin A3	beta crystallin A3 chain transcript CN

CRYBA1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	CRYBA1	P05813	KRTAP13-3	Homo sapiens	Q3SY46	Validated Y2H	32296183
Intra	CRYBA1	P05813	KRTAP13-3	Homo sapiens	Q3SY46	Y2H Array	32296183
Intra	CRYBA1	P05813	KRTAP13-3	Homo sapiens	Q3SY46	Y2H Prey Pooling	32296183
Intra	CRYBA1	P05813	CERK	Homo sapiens	Q8TCT0	Validated Y2H	32296183
Intra	CRYBA1	P05813	KRTAP11-1	Homo sapiens	Q8IUC1	Validated Y2H	32296183
Intra	CRYBA1	P05813	KRTAP11-1	Homo sapiens	Q8IUC1	Y2H Array	32296183
Intra	CRYBA1	P05813	KRTAP11-1	Homo sapiens	Q8IUC1	Y2H Prey Pooling	32296183
Intra	CRYBA1	P05813	KRTAP13-2	Homo sapiens	Q52LG2	Y2H Array	32296183
Intra	CRYBA1	P05813	KRTAP13-2	Homo sapiens	Q52LG2	Validated Y2H	32296183
Intra	CRYBA1	P05813	KRTAP13-2	Homo sapiens	Q52LG2	Y2H Prey Pooling	32296183
Intra	CRYBA1	P05813	BANF2	Homo sapiens	Q9H503-2	Y2H Prey Pooling	32296183
Intra	CRYBA1	P05813	BANF2	Homo sapiens	Q9H503-2	Validated Y2H	32296183
Intra	CRYBA1	P05813	BANF2	Homo sapiens	Q9H503-2	Y2H Array	32296183
Intra	CRYBA1	P05813	NOXA1	Homo sapiens	Q86UR1-2	Validated Y2H	32296183
Intra	CRYBA1	P05813	CELF6	Homo sapiens	Q96J87-2	Validated Y2H	32296183
Intra	CRYBA1	P05813	CELF6	Homo sapiens	Q96J87-2	Y2H Prey Pooling	32296183
Intra	CRYBA1	P05813	CELF6	Homo sapiens	Q96J87-2	Y2H Array	32296183
Intra	CRYBA1	P05813	HOXC8	Homo sapiens	P31273	Validated Y2H	32296183
Intra	CRYBA1	P05813	CRYBB3	Homo sapiens	P26998	Y2H Array	32296183
Intra	CRYBA1	P05813	CRYBB3	Homo sapiens	P26998	Y2H Prey Pooling	25416956
Intra	CRYBA1	P05813	CRYBB3	Homo sapiens	P26998	Y2H Prey Pooling	32296183
Intra	CRYBA1	P05813	CRYBB3	Homo sapiens	P26998	Validated Y2H	32296183
Intra	CRYBA1	P05813	CRYBB3	Homo sapiens	P26998	Y2H Array	25416956
Intra	CRYBA1	P05813	VAC14	Homo sapiens	Q08AM6	Y2H Prey Pooling	32296183
Intra	CRYBA1	P05813	VAC14	Homo sapiens	Q08AM6	Y2H Array	32296183
Intra	CRYBA1	P05813	VAC14	Homo sapiens	Q08AM6	Validated Y2H	32296183
Intra	CRYBA1	P05813	CHCHD2	Homo sapiens	Q9Y6H1	Validated Y2H	32296183
Intra	CRYBA1	P05813	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	CRYBA1	P05813	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	CRYBA1	P05813	CRYAB	Homo sapiens	P02511	CD	17046756
Intra	CRYBA1	P05813	CRYAB	Homo sapiens	P02511	NMR	17046756
Intra	CRYBA1	P05813	RBPMS	Homo sapiens	Q93062	Validated Y2H	25416956
Intra	CRYBA1	P05813	PLEKHF2	Homo sapiens	Q9H8W4	Validated Y2H	32296183
Intra	CRYBA1	P05813	CRYBB1	Homo sapiens	P53674	Validated Y2H	25416956
Intra	CRYBA1	P05813	CRYBB1	Homo sapiens	P53674	Y2H Array	25416956
Intra	CRYBA1	P05813	CRYBB1	Homo sapiens	P53674	Y2H Prey Pooling	25416956
Intra	CRYBA1	P05813	LASP1	Homo sapiens	Q14847-2	Y2H Prey Pooling	32296183
Intra	CRYBA1	P05813	LASP1	Homo sapiens	Q14847-2	Validated Y2H	32296183
Intra	CRYBA1	P05813	LASP1	Homo sapiens	Q14847-2	Y2H Array	32296183
Intra	CRYBA1	P05813	ARID5A	Homo sapiens	Q03989	Y2H Prey Pooling	32296183
Intra	CRYBA1	P05813	ARID5A	Homo sapiens	Q03989	Validated Y2H	32296183
Intra	CRYBA1	P05813	ARID5A	Homo sapiens	Q03989	Y2H Array	32296183
Intra	CRYBA1	P05813	CRYBB2	Homo sapiens	P43320	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

CRYBA1 Antibodies

Referencia número	Nombre del producto	Aplicación	Reactivity
HY-P811338	CRYBA1 Antibody	WB, IHC-P	Human, Mouse

Related Diseases

Diseases	Alias
Cataract 10, Multiple Types	Cataract 10 Multiple Types CTRCT10 Cataract, Congenital Zonular, With Sutural Opacities Cczs Congenital Zonular Cataract With Sutural Opacities Cataract, Congenital, Zonular With Sutural Opacities Cataract, Type 10, Multiple Types
Early-Onset Sutural Cataract	Early-Onset Cataract With Y-Shaped Suture Opacities
Early-Onset Posterior Polar Cataract
Early-Onset Lamellar Cataract
Early-Onset Nuclear Cataract
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Cataract 32, Multiple Types	Cataract, Posterior Polar, 5 Ctpp5 CTRCT32 Ctaa1 Cataract, Anterior Polar Cap Cataract 32 Multiple Types Cataract, Anterior Polar, 1 Anterior Polar Cataract 1 Posterior Polar Cataract 5 Cataract, Anterior Polar 1
Posterior Polar Cataract	Cataract, Posterior Polar
Cataract 16, Multiple Types	Cataract 16 Multiple Types CTRCT16 Ctpp2 Cataract, Posterior Polar, 2 Posterior Polar Cataract 2 Cataract, Congenital Lamellar Congenital Lamellar Cataract
Cataract 31, Multiple Types	Cataract, Posterior Polar, 3 Ctpp3 Cataract 31 Multiple Types CTRCT31 Cpp3 Posterior Polar Cataract 3 Cataract, Type 31, Multiple Types
Nance-Horan Syndrome	NHS Cataract-Dental Syndrome Cataract, X-Linked, With Hutchinsonian Teeth Mesiodens-Cataract Syndrome Cataract X-Linked With Hutchinsonian Teeth Cataract Dental Syndrome Mesiodens Cataract Syndrome
Cataract 11, Multiple Types	Cataract, Posterior Polar, 4 Ctpp4 Cpp4 Cataract 11 Multiple Types CTRCT11 Cataract 11, Syndromic, Autosomal Recessive Cataract 11 With Microphthalmia And Neurodevelopmental Abnormalities Posterior Polar Cataract 4 Posterior Polar Cataract, 4 Cataract Posterior Polar 4 Syndromic Cataract 11 Cataract, Type 11, Multiple Types
Autoimmune Optic Neuritis
Axenfeld-Rieger Syndrome, Type 3	Axenfeld-Rieger Syndrome Type 3 RIEG3 Anterior Chamber Cleavage Syndrome Anterior Segment Mesenchymal Dysgenesis Axenfeld-Rieger Anomaly With Cardiac Defects And/Or Sensorineural Hearing Loss Axenfeld-Rieger Anomaly With Or Without Cardiac Defects And/Or Sensorineural Hearing Loss Rieger Syndrome Type 3 Axenfeld-Rieger Anomaly Rieger Syndrome, Type 3 Axenfeld-Rieger Syndrome 3 Axenfeld Anomaly Rieger Anomaly Rieger Syndrome Rieger Eye Malformation Sequence
Persistent Hyperplastic Primary Vitreous	Congenital Retinal Detachment Ncrna Disease Non-Syndromic Congenital Retinal Non-Attachment Pfvs Phpv Persistent Fetal Vasculature Syndrome
Lens Disease	Lens Diseases
Esotropia	Convergence In Manifest Squint Crossed Eyes Internal Strabismus Convergent Concomitant Strabismus Convergent Squint Convergent Strabismus Cross-Eye
Amblyopia	Lazy Eye
Aniridia 1	Aniridia Congenital Aniridia AN1 An Cataract With Late-Onset Corneal Dystrophy Aplasia Of Iris Absent Iris Irideremia Aniridia Ii, Formerly An2, Formerly An2 Aniridia Type Ii Aniridia, Type 1 An-1 Absence Of Iris Agenesis Of Iris Congenital Absence Of Iris Hereditary Aniridia Sporadic Aniridia
Erythrokeratodermia Variabilis Et Progressiva 1	Erythrokeratodermia Variabilis Erythrokeratodermia Variabilis Et Progressiva Greither Disease Ekv Ekvp PSEK Erythrokeratodermia Variabilis With Erythema Gyratum Repens Keratosis Palmoplantaris Transgrediens Et Progrediens Transgrediens Et Progrediens Palmoplantar Keratoderma EKVP1 Erythrokeratodermia, Progressive Symmetric Erythrokeratodermia Figurata, Congenital Familial, In Plaques Keratoderma Palmoplantaris Transgrediens Keratosis Extremitatum Hereditaria Progrediens Erythrokeratodermia Variabilis, Mendes Da Costa Type Progressive Symmetric Erythrokeratodermia Erythrokeratodermia Figurata Variabilis Greither'S Disease Ekv-P Erythrokeratodermia Variabilis Of Mendes Da Costa Progressive Symmetrical Erythrokeratoderma Of Gottron Progressive Diffuse Ppk Progressive Diffuse Palmoplantar Keratoderma Transgrediens Et Progrediens Ppk Darier-Gottron Disease Erythrokeratodermia Progressiva Symmetrica Progressive Symmetric Erythrokeratodermia, Gottron Type Congenital Familial Erythrokeratodermia Figurata In Plaques Erythrokeratodermia Progressive Symmetric Erythrokeratodermia Variabilis Mendes Da Costa Type
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS03208	CRYBA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CRYBA1	VGNC	VGNC:27733
Canis familiaris	CRYBA1	VGNC	VGNC:39636
Rattus norvegicus	CRYBA1	RGD	RGD:2415
Felis catus	CRYBA1	VGNC	VGNC:61198
Macaca mulatta	CRYBA1	VGNC	VGNC:71502
Mus musculus	CRYBA1	MGD	MGI:88518
Others	CRYBA1	NCBI