Details for: CRYBB1

Gene ID: 1414

Symbol: CRYBB1

Ensembl ID: ENSG00000100122

Description: crystallin beta B1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.82
    Marker Score: 1647
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.53
    Marker Score: 3056
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 2.49
    Marker Score: 3344
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 1.96
    Marker Score: 5716
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.67
    Marker Score: 3173
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.59
    Marker Score: 875
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.29
    Marker Score: 2632
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 1.29
    Marker Score: 526
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.05
    Marker Score: 6985
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 1.04
    Marker Score: 3099
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71830
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48055
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.99
    Marker Score: 2515
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.98
    Marker Score: 8307
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.95
    Marker Score: 371
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.95
    Marker Score: 14816
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5349
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5288
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.82
    Marker Score: 2361
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.81
    Marker Score: 485
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.78
    Marker Score: 590
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1262
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 709
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.77
    Marker Score: 587
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 396
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.7
    Marker Score: 222
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.4
    Marker Score: 193
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.38
    Marker Score: 124
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.32
    Marker Score: 449
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.26
    Marker Score: 113
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.25
    Marker Score: 313
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.22
    Marker Score: 216
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.19
    Marker Score: 352
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.19
    Marker Score: 256
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.18
    Marker Score: 121
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.18
    Marker Score: 288
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.17
    Marker Score: 361
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.17
    Marker Score: 189
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.17
    Marker Score: 51
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 0.16
    Marker Score: 76
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.16
    Marker Score: 96
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.16
    Marker Score: 91
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.15
    Marker Score: 154
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.12
    Marker Score: 33
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.12
    Marker Score: 122
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.12
    Marker Score: 60
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.12
    Marker Score: 132
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.11
    Marker Score: 343
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.11
    Marker Score: 56
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.1
    Marker Score: 70
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.1
    Marker Score: 99
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.1
    Marker Score: 30
  • Cell Name: intermediate monocyte (CL0002393)
    Fold Change: 0.1
    Marker Score: 33
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.09
    Marker Score: 47
  • Cell Name: lung microvascular endothelial cell (CL2000016)
    Fold Change: 0.09
    Marker Score: 20
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.09
    Marker Score: 42
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.09
    Marker Score: 83
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.09
    Marker Score: 51
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.09
    Marker Score: 58
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 0.09
    Marker Score: 100
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.09
    Marker Score: 20
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.09
    Marker Score: 82
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.09
    Marker Score: 27
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.08
    Marker Score: 49
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.08
    Marker Score: 129
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.08
    Marker Score: 64
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 0.08
    Marker Score: 20
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.08
    Marker Score: 21
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.08
    Marker Score: 60
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 0.08
    Marker Score: 22
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.08
    Marker Score: 54
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.08
    Marker Score: 33
  • Cell Name: IgG plasma cell (CL0000985)
    Fold Change: 0.08
    Marker Score: 34
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 0.08
    Marker Score: 153
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.08
    Marker Score: 19
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 0.08
    Marker Score: 64
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.07
    Marker Score: 43
  • Cell Name: bipolar neuron (CL0000103)
    Fold Change: 0.07
    Marker Score: 25
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.07
    Marker Score: 43
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.07
    Marker Score: 21
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.07
    Marker Score: 36
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 0.07
    Marker Score: 30
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.07
    Marker Score: 21
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.07
    Marker Score: 32
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.07
    Marker Score: 18
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.07
    Marker Score: 25
  • Cell Name: colon macrophage (CL0009038)
    Fold Change: 0.07
    Marker Score: 19
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 0.07
    Marker Score: 21
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.07
    Marker Score: 33
  • Cell Name: pre-conventional dendritic cell (CL0002010)
    Fold Change: 0.07
    Marker Score: 20
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.07
    Marker Score: 20
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.07
    Marker Score: 19
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.06
    Marker Score: 41
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.06
    Marker Score: 43
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.06
    Marker Score: 20
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.06
    Marker Score: 17

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Other Information

**Key characteristics:** * The protein is a glycoprotein with a molecular weight of approximately 140 kDa. * It is a transmembrane protein that is expressed in the lens epithelium, which is the clear, dome-shaped outer layer of the eye. * CRBB1 is a key component of the lens crystallin network, which is responsible for the structural integrity and transparency of the lens. * It is also involved in the process of lens remodeling, which is the continuous process of replacing old or damaged lens tissue with new, healthy tissue. **Pathways and functions:** * CRBB1 is involved in the assembly and maintenance of the lens crystallin network. * It is a key regulator of lens crystallin expression, and its expression is upregulated in response to changes in the environment, such as changes in salt concentration. * The lens crystallin network is responsible for the transparency and refractive index of the lens, which is critical for visual perception. * Mutations in the CRBB1 gene have been linked to a number of eye diseases, including cataracts and refractive errors. **Clinical significance:** * CryBB1 is a promising target for the treatment of eye diseases that affect the lens, such as cataracts and refractive errors. * By targeting CRBB1, it may be possible to inhibit the progression of these diseases and preserve the vision of patients. * Clinical trials are currently underway to develop new therapies that target CRBB1 in order to treat eye 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 EPD 1 Ensembl 1 EvolutionaryTrace 1 GO 3 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 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 2 PDBsum 1 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PROSITE-ProRule 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 SAM 1 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. For the full schema, download it here.