Details for: CRYBB1

Gene ID: 1414

Symbol: CRYBB1

Ensembl ID: ENSG00000100122

Description: crystallin beta B1

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 11.8294
    Cell Significance Index: -1.8400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 6.8600
    Cell Significance Index: -1.7400
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 5.6034
    Cell Significance Index: 78.7000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 4.1845
    Cell Significance Index: -1.7000
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 2.6559
    Cell Significance Index: 84.0000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.4929
    Cell Significance Index: 3389.6400
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.8868
    Cell Significance Index: 7.2600
  • Cell Name: bipolar neuron (CL0000103)
    Fold Change: 0.4334
    Cell Significance Index: 2.4300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.4162
    Cell Significance Index: 5.9600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.2804
    Cell Significance Index: 431.6500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.2347
    Cell Significance Index: 432.7800
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.1924
    Cell Significance Index: 2.7000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.1324
    Cell Significance Index: 1.0800
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.0995
    Cell Significance Index: 1.4600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0447
    Cell Significance Index: 2.8200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0412
    Cell Significance Index: 2.1400
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.0208
    Cell Significance Index: 0.3300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0155
    Cell Significance Index: 4.4700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0140
    Cell Significance Index: 2.8100
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.0098
    Cell Significance Index: 0.1400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0093
    Cell Significance Index: 0.2500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0005
    Cell Significance Index: -0.0100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0006
    Cell Significance Index: -1.0600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0023
    Cell Significance Index: -0.4100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0024
    Cell Significance Index: -1.8000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0026
    Cell Significance Index: -1.6800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0027
    Cell Significance Index: -1.5300
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0030
    Cell Significance Index: -0.1300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0031
    Cell Significance Index: -1.1200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0031
    Cell Significance Index: -1.6700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0040
    Cell Significance Index: -1.8300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0043
    Cell Significance Index: -0.5100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0048
    Cell Significance Index: -0.9600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0063
    Cell Significance Index: -0.6400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0069
    Cell Significance Index: -0.1900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0076
    Cell Significance Index: -0.4900
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.0080
    Cell Significance Index: -0.0900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0084
    Cell Significance Index: -1.4400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0087
    Cell Significance Index: -1.8400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0097
    Cell Significance Index: -1.4100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0097
    Cell Significance Index: -0.4600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0097
    Cell Significance Index: -0.2700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0108
    Cell Significance Index: -1.3800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0116
    Cell Significance Index: -1.5900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0133
    Cell Significance Index: -1.6400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0154
    Cell Significance Index: -1.7700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0155
    Cell Significance Index: -1.8100
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: -0.0160
    Cell Significance Index: -0.1300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0171
    Cell Significance Index: -1.7800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0215
    Cell Significance Index: -1.4500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0223
    Cell Significance Index: -1.7100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0227
    Cell Significance Index: -1.0600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0236
    Cell Significance Index: -1.4500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0265
    Cell Significance Index: -0.7800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0267
    Cell Significance Index: -1.3500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0278
    Cell Significance Index: -1.5600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0299
    Cell Significance Index: -1.5600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0301
    Cell Significance Index: -0.4100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0303
    Cell Significance Index: -1.0600
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.0340
    Cell Significance Index: -0.4200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0355
    Cell Significance Index: -1.1300
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0357
    Cell Significance Index: -0.8900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0363
    Cell Significance Index: -1.1900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0370
    Cell Significance Index: -1.9500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0405
    Cell Significance Index: -1.7900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0417
    Cell Significance Index: -1.7100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0431
    Cell Significance Index: -0.4900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0467
    Cell Significance Index: -1.7700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0481
    Cell Significance Index: -1.6700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0506
    Cell Significance Index: -1.3500
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.0515
    Cell Significance Index: -0.6600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0518
    Cell Significance Index: -1.9000
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0521
    Cell Significance Index: -1.0600
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0547
    Cell Significance Index: -0.9200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0559
    Cell Significance Index: -1.4000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0561
    Cell Significance Index: -1.6000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0603
    Cell Significance Index: -2.1200
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0608
    Cell Significance Index: -1.5500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0612
    Cell Significance Index: -1.2800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0628
    Cell Significance Index: -1.7100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0634
    Cell Significance Index: -1.6200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0635
    Cell Significance Index: -1.3900
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0647
    Cell Significance Index: -0.4400
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.0648
    Cell Significance Index: -0.5400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0666
    Cell Significance Index: -1.7500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0688
    Cell Significance Index: -2.0200
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.0689
    Cell Significance Index: -1.1700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0689
    Cell Significance Index: -1.1800
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: -0.0692
    Cell Significance Index: -0.9200
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.0694
    Cell Significance Index: -0.9600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0702
    Cell Significance Index: -1.4900
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.0732
    Cell Significance Index: -1.4600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0736
    Cell Significance Index: -2.1200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0737
    Cell Significance Index: -1.4800
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0751
    Cell Significance Index: -0.9700
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0762
    Cell Significance Index: -1.5900
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0768
    Cell Significance Index: -1.6600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0769
    Cell Significance Index: -1.5200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0796
    Cell Significance Index: -1.9900
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0797
    Cell Significance Index: -1.9300

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 Pattern:** CRYBB1 is significantly expressed in various lens cells, including secondary lens fibers, lens epithelial cells, and anterior lens cells, suggesting its widespread involvement in lens development, maintenance, and function. 2. **Protein Function:** The CRYBB1 protein is a member of the crystallin family, which is responsible for maintaining the lens's refractive properties and ensuring optimal visual acuity. 3. **Structural Composition:** CRYBB1 is a structural constituent of the eye lens, playing a critical role in maintaining the lens's transparency and refractive power. 4. **Cellular Expression:** CRYBB1 is expressed in various cell types beyond the lens, including cardiac endothelial cells, Hofbauer cells, and goblet cells, highlighting its potential role in other tissues and organs. **Pathways and Functions:** 1. **Lens Development:** CRYBB1 is involved in the development of the lens, particularly during the differentiation of lens epithelial cells into secondary lens fibers. 2. **Protein Binding:** The CRYBB1 protein interacts with other lens proteins, such as alpha-A-crystallin, to maintain the lens's refractive properties and ensure optimal visual acuity. 3. **Structural Maintenance:** CRYBB1 contributes to the structural integrity of the lens, maintaining its transparency and refractive power. 4. **Visual Perception:** The CRYBB1 protein is essential for maintaining the lens's refractive properties, which is critical for optimal visual acuity and perception. **Clinical Significance:** 1. **Cataract Formation:** Mutations in the CRYBB1 gene have been associated with cataract formation, highlighting the gene's critical role in maintaining lens homeostasis. 2. **Lens Opacification:** CRYBB1 mutations can lead to lens opacification, which can result in vision loss and blindness. 3. **Age-Related Macular Degeneration (AMD):** The CRYBB1 gene has been implicated in the development of AMD, a leading cause of vision loss in older adults. 4. **Lens Protein Mutations:** Mutations in the CRYBB1 gene can lead to lens protein misfolding and aggregation, contributing to cataract formation and other lens-related disorders. In conclusion, the CRYBB1 gene plays a critical role in maintaining lens homeostasis and visual acuity. Its widespread expression in lens cells, interaction with other lens proteins, and involvement in lens development, maintenance, and function highlight its importance in the development of various lens-related disorders. Further research on the CRYBB1 gene is necessary to fully understand its mechanisms of action and to develop effective therapeutic strategies for the treatment of lens-related diseases.

Genular Protein ID: 2839523136

Symbol: CRBB1_HUMAN

Name: Beta-crystallin B1

UniProtKB Accession Codes:

P53674

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 5 Ensembl 1 EvolutionaryTrace 1 GO 3 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 3 OrthoDB 1 PANTHER 2 PCDDB 1 PDB 1 PDBsum 1 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 1 RNAct 1 RefSeq 2 SIGNOR 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: 8626774

Title: The sequence of human betaB1-crystallin cDNA allows mass spectrometric detection of betaB1 protein missing portions of its N-terminal extension.

PubMed ID: 8626774

DOI: 10.1074/jbc.271.8.4273

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

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: 8575764

Title: Assignment of the beta B1 crystallin gene (CRYBB1) to human chromosome 22 and mouse chromosome 5.

PubMed ID: 8575764

DOI: 10.1006/geno.1995.9947

PubMed ID: 12360425

Title: A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.

PubMed ID: 12360425

DOI: 10.1086/344212

PubMed ID: 15667225

Title: Oligomerization and phase transitions in aqueous solutions of native and truncated human beta B1-crystallin.

PubMed ID: 15667225

DOI: 10.1021/bi048419f

PubMed ID: 16110300

Title: CRYBB1 mutation associated with congenital cataract and microcornea.

PubMed ID: 16110300

PubMed ID: 14573871

Title: Crystal structure of truncated human betaB1-crystallin.

PubMed ID: 14573871

DOI: 10.1110/ps.03265903

PubMed ID: 17460281

Title: Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.

PubMed ID: 17460281

DOI: 10.1167/iovs.06-1019

PubMed ID: 21972112

Title: A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the betaB1/betaA3-crystallin heteromer but not the betaB1-crystallin homomer.

PubMed ID: 21972112

DOI: 10.1002/humu.21436

PubMed ID: 23508780

Title: Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

PubMed ID: 23508780

DOI: 10.1007/s00439-013-1289-0

PubMed ID: 29386872

Title: Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.

PubMed ID: 29386872

PubMed ID: 29914532

Title: Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.

PubMed ID: 29914532

DOI: 10.1186/s13023-018-0828-0

PubMed ID: 33243271

Title: The genetic landscape of crystallins in congenital cataract.

PubMed ID: 33243271

DOI: 10.1186/s13023-020-01613-3

Sequence Information:

  • Length: 252
  • Mass: 28023
  • Checksum: 93D81A9C95A86F7F
  • Sequence:
    • MSQAAKASAS ATVAVNPGPD TKGKGAPPAG TSPSPGTTLA PTTVPITSAK AAELPPGNYR 
LVVFELENFQ GRRAEFSGEC SNLADRGFDR VRSIIVSAGP WVAFEQSNFR GEMFILEKGE 
YPRWNTWSSS YRSDRLMSFR PIKMDAQEHK ISLFEGANFK GNTIEIQGDD APSLWVYGFS 
DRVGSVKVSS GTWVGYQYPG YRGYQYLLEP GDFRHWNEWG AFQPQMQSLR RLRDKQWHLE 
GSFPVLATEP PK

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.