Details for: CRYBA1

Gene ID: 1411

Symbol: CRYBA1

Ensembl ID: ENSG00000108255

Description: crystallin beta A1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 3.8508
    Cell Significance Index: 54.0900
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 2.5797
    Cell Significance Index: 81.5900
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.5760
    Cell Significance Index: 4.7200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.4829
    Cell Significance Index: 656.6800
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.4453
    Cell Significance Index: 6.4900
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.2562
    Cell Significance Index: 2.8300
  • Cell Name: bipolar neuron (CL0000103)
    Fold Change: 0.1917
    Cell Significance Index: 1.0800
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.1468
    Cell Significance Index: 2.0300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1395
    Cell Significance Index: 214.7900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1208
    Cell Significance Index: 2.0700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1111
    Cell Significance Index: 204.9000
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.0827
    Cell Significance Index: 0.8600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0817
    Cell Significance Index: 2.1000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0809
    Cell Significance Index: 5.1000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0751
    Cell Significance Index: 1.0800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0498
    Cell Significance Index: 0.7400
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.0205
    Cell Significance Index: 0.5100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0137
    Cell Significance Index: 0.7100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0131
    Cell Significance Index: 2.3600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0107
    Cell Significance Index: 2.1400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0088
    Cell Significance Index: 6.0700
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.0085
    Cell Significance Index: 0.1400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0059
    Cell Significance Index: 1.7100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0053
    Cell Significance Index: 0.4100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0042
    Cell Significance Index: 0.0500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0031
    Cell Significance Index: 0.6200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0008
    Cell Significance Index: 0.3000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0005
    Cell Significance Index: 0.9400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0002
    Cell Significance Index: -0.0800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0019
    Cell Significance Index: -1.2100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0024
    Cell Significance Index: -1.1000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0025
    Cell Significance Index: -1.8700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0030
    Cell Significance Index: -1.6500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0031
    Cell Significance Index: -0.4500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0034
    Cell Significance Index: -1.9100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0039
    Cell Significance Index: -0.4800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0051
    Cell Significance Index: -0.0700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0056
    Cell Significance Index: -0.9500
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0085
    Cell Significance Index: -0.1100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0095
    Cell Significance Index: -2.0000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0109
    Cell Significance Index: -1.2500
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0109
    Cell Significance Index: -0.1500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0109
    Cell Significance Index: -1.5000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0129
    Cell Significance Index: -0.9100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0162
    Cell Significance Index: -1.6900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0168
    Cell Significance Index: -1.9800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0176
    Cell Significance Index: -0.4700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0195
    Cell Significance Index: -2.0000
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: -0.0217
    Cell Significance Index: -0.2100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0225
    Cell Significance Index: -1.0500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0234
    Cell Significance Index: -1.1000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0242
    Cell Significance Index: -1.6300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0249
    Cell Significance Index: -1.1000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0252
    Cell Significance Index: -1.2700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0296
    Cell Significance Index: -1.6600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0298
    Cell Significance Index: -1.8300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0299
    Cell Significance Index: -0.8000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0301
    Cell Significance Index: -1.1400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0326
    Cell Significance Index: -0.8900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0327
    Cell Significance Index: -2.1100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0342
    Cell Significance Index: -1.0900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0357
    Cell Significance Index: -1.2500
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0367
    Cell Significance Index: -0.4700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0374
    Cell Significance Index: -1.9500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0391
    Cell Significance Index: -1.2800
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0403
    Cell Significance Index: -0.8200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0405
    Cell Significance Index: -0.8600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0405
    Cell Significance Index: -0.8400
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.0406
    Cell Significance Index: -0.4600
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0423
    Cell Significance Index: -0.5700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0423
    Cell Significance Index: -0.8900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0448
    Cell Significance Index: -1.8300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0455
    Cell Significance Index: -1.1100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0483
    Cell Significance Index: -1.3500
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0486
    Cell Significance Index: -1.0500
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0525
    Cell Significance Index: -1.3100
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0542
    Cell Significance Index: -0.7600
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.0550
    Cell Significance Index: -0.7100
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0576
    Cell Significance Index: -0.8500
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0599
    Cell Significance Index: -0.9100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0612
    Cell Significance Index: -1.2100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0613
    Cell Significance Index: -1.2300
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.0617
    Cell Significance Index: -1.0000
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0617
    Cell Significance Index: -0.9900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0618
    Cell Significance Index: -2.1700
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.0638
    Cell Significance Index: -1.0300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0639
    Cell Significance Index: -1.8400
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.0642
    Cell Significance Index: -0.8900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0645
    Cell Significance Index: -1.8400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0669
    Cell Significance Index: -1.7900
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.0673
    Cell Significance Index: -0.8800
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0675
    Cell Significance Index: -0.6400
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0680
    Cell Significance Index: -1.4200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0680
    Cell Significance Index: -1.9500
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.0689
    Cell Significance Index: -0.9300
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.0710
    Cell Significance Index: -1.0100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0720
    Cell Significance Index: -2.1200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0728
    Cell Significance Index: -1.4200
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0729
    Cell Significance Index: -1.8200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0738
    Cell Significance Index: -1.7700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Expression in eye cells:** CRYBA1 is predominantly expressed in eye cells, including OFF-bipolar cells, ON-bipolar cells, retinal bipolar neurons, retinal cone cells, secondary lens fibers, and lens epithelial cells. 2. **Structural constituent of the eye lens:** CRYBA1 is a structural component of the eye lens, contributing to its transparency and refractive power. 3. **Regulation of cellular processes:** CRYBA1 is involved in the regulation of various cellular processes, including negative regulation of cytokine production, negative regulation of the ERK1/2 cascade, and positive regulation of anoikis. 4. **Cellular localization:** CRYBA1 is primarily localized to the nucleus and cytoplasm of cells. **Pathways and Functions:** 1. **Negative regulation of cytokine production:** CRYBA1 inhibits the production of cytokines, which are essential for immune responses, thereby maintaining immune homeostasis. 2. **Negative regulation of ERK1/2 cascade:** CRYBA1 suppresses the activation of the ERK1/2 signaling pathway, which is involved in cell proliferation, differentiation, and survival. 3. **Negative regulation of PI3K/PKB signaling:** CRYBA1 inhibits the PI3K/PKB signaling pathway, which is crucial for cell survival, proliferation, and angiogenesis. 4. **Negative regulation of TOR signaling:** CRYBA1 suppresses the activation of the TOR (target of rapamycin) signaling pathway, which regulates cell growth, proliferation, and metabolism. 5. **Positive regulation of anoikis:** CRYBA1 promotes anoikis, a form of programmed cell death that occurs in response to detachment from the extracellular matrix. **Clinical Significance:** 1. **Eye diseases:** Mutations in the CRYBA1 gene have been associated with various eye diseases, including cataracts, glaucoma, and age-related macular degeneration. 2. **Immunological disorders:** Alterations in CRYBA1 expression have been linked to immunological disorders, such as autoimmune diseases and allergic reactions. 3. **Cancer:** CRYBA1's role in regulating cell growth, proliferation, and apoptosis makes it a potential target for cancer therapy. 4. **Neurological disorders:** CRYBA1's involvement in cellular processes beyond the eye lens, such as regulation of cytokine production and ERK1/2 signaling, may also contribute to the pathogenesis of neurological disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, CRYBA1 plays a vital role in maintaining the structural integrity and function of the eye lens, as well as regulating various cellular processes beyond the eye lens. Further research is necessary to fully elucidate the mechanisms by which CRYBA1 functions and to explore its potential as a therapeutic target for various diseases.

Genular Protein ID: 2486637131

Symbol: CRBA1_HUMAN

Name: Beta-crystallin A3, isoform A1, Delta4 form

UniProtKB Accession Codes:

P05813 Q13633 Q14CM9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 Ensembl 1 ExpressionAtlas 1 GO 12 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 3745196

Title: Characterization of the human beta-crystallin gene Hu beta A3/A1 reveals ancestral relationships among the beta gamma-crystallin superfamily.

PubMed ID: 3745196

DOI: 10.1016/s0021-9258(18)67257-6

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8999933

Title: Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens.

PubMed ID: 8999933

DOI: 10.1074/jbc.272.4.2268

PubMed ID: 15576560

Title: Modifications of human betaA1/betaA3-crystallins include S-methylation, glutathiolation, and truncation.

PubMed ID: 15576560

DOI: 10.1110/ps.04738505

PubMed ID: 28083894

Title: The amino acid transporter SLC36A4 regulates the amino acid pool in retinal pigmented epithelial cells and mediates the mechanistic target of rapamycin, complex 1 signaling.

PubMed ID: 28083894

DOI: 10.1111/acel.12561

PubMed ID: 9788845

Title: Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene.

PubMed ID: 9788845

PubMed ID: 15016766

Title: Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract.

PubMed ID: 15016766

DOI: 10.1093/hmg/ddh110

PubMed ID: 21866213

Title: Mutation analysis of 12 genes in Chinese families with congenital cataracts.

PubMed ID: 21866213

PubMed ID: 31523120

Title: Mutation screening of crystallin genes in Chinese families with congenital cataracts.

PubMed ID: 31523120

Sequence Information:

  • Length: 215
  • Mass: 25150
  • Checksum: C544564835688A19
  • Sequence:
    • METQAEQQEL ETLPTTKMAQ TNPTPGSLGP WKITIYDQEN FQGKRMEFTS SCPNVSERSF 
DNVRSLKVES GAWIGYEHTS FCGQQFILER GEYPRWDAWS GSNAYHIERL MSFRPICSAN 
HKESKMTIFE KENFIGRQWE ISDDYPSLQA MGWFNNEVGS MKIQSGAWVC YQYPGYRGYQ 
YILECDHHGG DYKHWREWGS HAQTSQIQSI RRIQQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.