2. Gene
  3. CRYBA1 - crystallin beta A1 Gene

CRYBA1 - crystallin beta A1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CRYB1; CTRCT10

Gene ID: 1411 | Gene type: protein coding

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 Reference 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

Crystall: Beta/Gamma crystallin (32 - 116)

Crystall

Crystall: Beta/Gamma crystallin (125 - 213)

  • 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 Reference
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

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS03208 CRYBA1 Human Pre-designed siRNA Set A Pre-designed Sets / 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