Details for: CHKB

Gene ID: 1120

Symbol: CHKB

Ensembl ID: ENSG00000100288

Description: choline kinase beta

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: 90.6167
    Cell Significance Index: -14.1000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 54.9985
    Cell Significance Index: -13.9500
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 28.4028
    Cell Significance Index: -14.6100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 11.7239
    Cell Significance Index: -14.4600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.8155
    Cell Significance Index: -12.9000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.8701
    Cell Significance Index: -8.4700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.6948
    Cell Significance Index: -14.5800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.0222
    Cell Significance Index: 27.3900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8685
    Cell Significance Index: 52.1400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.7930
    Cell Significance Index: 18.3200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6534
    Cell Significance Index: 71.0800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6043
    Cell Significance Index: 121.2200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5348
    Cell Significance Index: 41.0400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4559
    Cell Significance Index: 74.1500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.4275
    Cell Significance Index: 9.3600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.3794
    Cell Significance Index: 21.2900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3550
    Cell Significance Index: 24.5500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3264
    Cell Significance Index: 117.0600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3075
    Cell Significance Index: 8.8600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.2962
    Cell Significance Index: 8.4900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2870
    Cell Significance Index: 51.7300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2810
    Cell Significance Index: 32.7500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.2644
    Cell Significance Index: 2.4400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2603
    Cell Significance Index: 49.5300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.2567
    Cell Significance Index: 6.7500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2146
    Cell Significance Index: 26.3900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1948
    Cell Significance Index: 4.2200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1823
    Cell Significance Index: 11.2100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1820
    Cell Significance Index: 6.8900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1794
    Cell Significance Index: 7.9400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1790
    Cell Significance Index: 11.2800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1651
    Cell Significance Index: 16.3300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1227
    Cell Significance Index: 5.5600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1079
    Cell Significance Index: 3.7500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0974
    Cell Significance Index: 11.4900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0872
    Cell Significance Index: 11.1800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0698
    Cell Significance Index: 9.5800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0697
    Cell Significance Index: 3.6200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0609
    Cell Significance Index: 1.4600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0455
    Cell Significance Index: 20.1300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0346
    Cell Significance Index: 18.9200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0073
    Cell Significance Index: 0.3400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0015
    Cell Significance Index: 0.0400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.0012
    Cell Significance Index: 0.0200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0018
    Cell Significance Index: -0.0900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0024
    Cell Significance Index: -4.5500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0033
    Cell Significance Index: -6.1100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0036
    Cell Significance Index: -5.6100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0067
    Cell Significance Index: -0.1400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0079
    Cell Significance Index: -6.0200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0085
    Cell Significance Index: -0.4000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0094
    Cell Significance Index: -12.7500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0129
    Cell Significance Index: -9.5900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0155
    Cell Significance Index: -11.3900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0165
    Cell Significance Index: -0.5800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0184
    Cell Significance Index: -11.7100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0228
    Cell Significance Index: -14.2100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0232
    Cell Significance Index: -13.0900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0263
    Cell Significance Index: -0.5600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0307
    Cell Significance Index: -13.9400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0309
    Cell Significance Index: -6.1400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0315
    Cell Significance Index: -3.2200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0315
    Cell Significance Index: -0.4300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0320
    Cell Significance Index: -0.9400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0323
    Cell Significance Index: -0.5400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0325
    Cell Significance Index: -4.2000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0437
    Cell Significance Index: -12.5800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0489
    Cell Significance Index: -8.3500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0527
    Cell Significance Index: -3.9300
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.0528
    Cell Significance Index: -0.5500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0551
    Cell Significance Index: -6.3100
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0606
    Cell Significance Index: -1.1200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0668
    Cell Significance Index: -4.3100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0723
    Cell Significance Index: -15.2200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0870
    Cell Significance Index: -12.6500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1124
    Cell Significance Index: -3.6000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1179
    Cell Significance Index: -3.2100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1298
    Cell Significance Index: -9.1800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1411
    Cell Significance Index: -14.6900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1557
    Cell Significance Index: -2.2300
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1585
    Cell Significance Index: -2.7400
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1628
    Cell Significance Index: -2.0300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1723
    Cell Significance Index: -13.6500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1813
    Cell Significance Index: -12.1900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1861
    Cell Significance Index: -11.4100
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.1904
    Cell Significance Index: -1.1300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1932
    Cell Significance Index: -4.1000
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.1937
    Cell Significance Index: -1.1700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1964
    Cell Significance Index: -10.3100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2048
    Cell Significance Index: -3.5100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.2201
    Cell Significance Index: -2.5000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2303
    Cell Significance Index: -6.1600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2376
    Cell Significance Index: -5.9400
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.2386
    Cell Significance Index: -4.9800
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.2389
    Cell Significance Index: -3.7900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2405
    Cell Significance Index: -2.4900
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.2504
    Cell Significance Index: -3.1600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2572
    Cell Significance Index: -8.4200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2809
    Cell Significance Index: -5.6400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2837
    Cell Significance Index: -9.9400

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:** CHKB is a member of the choline kinase family, which catalyzes the phosphorylation of choline to form phosphocholine. This enzyme has been shown to exhibit high specificity for choline, with a relatively low affinity for other substrates. CHKB is predominantly expressed in cells involved in metabolism, development, and cell signaling, including retinal ganglion cells, cardiac muscle myoblasts, and intestinal crypt stem cells. Its expression is also observed in various types of neurons, including GABAergic interneurons and glutamatergic cortical neurons. **Pathways and Functions:** CHKB is integral to several metabolic pathways, including the choline biosynthetic pathway, glycerophospholipid biosynthesis, and phospholipid metabolism. By phosphorylating choline, CHKB facilitates the production of phosphocholine, which is then converted into phosphatidylethanolamine (PE). PE is a crucial component of cellular membranes, playing a vital role in maintaining membrane structure and function. Additionally, CHKB has been implicated in the regulation of cell signaling pathways, including the phosphatidylcholine (PC) and phosphatidylethanolamine (PE) biosynthetic processes. **Clinical Significance:** The dysregulation of CHKB has been implicated in various diseases, including cancer, neurological disorders, and metabolic disorders. For example, alterations in CHKB expression have been observed in certain types of cancer, including colorectal cancer, where it may contribute to tumor growth and progression. Furthermore, CHKB has been shown to play a role in the regulation of immune responses, with implications for the development of immunotherapies. In neurological disorders, CHKB may contribute to the pathogenesis of diseases such as multiple sclerosis and Alzheimer's disease. Understanding the role of CHKB in these diseases may lead to the development of novel therapeutic strategies. In conclusion, CHKB is a critical enzyme involved in the metabolism of choline and phospholipids, with significant implications for cellular function and development. Its dysregulation has been implicated in various diseases, highlighting the need for further research into the molecular mechanisms underlying its role in immunology and disease.

Genular Protein ID: 2394261400

Symbol: CHKB_HUMAN

Name: Choline/ethanolamine kinase

UniProtKB Accession Codes:

Q9Y259 A0PJM6 Q13388

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 16 ChEMBL 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 2 EMBL 11 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 4 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10918069

Title: Novel expression of equivocal messages containing both regions of choline/ethanolamine kinase and muscle type carnitine palmitoyltransferase I.

PubMed ID: 10918069

DOI: 10.1074/jbc.m006322200

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: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 19915674

Title: Differential role of human choline kinase alpha and beta enzymes in lipid metabolism: implications in cancer onset and treatment.

PubMed ID: 19915674

DOI: 10.1371/journal.pone.0007819

PubMed ID: 21665002

Title: A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.

PubMed ID: 21665002

DOI: 10.1016/j.ajhg.2011.05.010

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 20299452

Title: Crystal structures of human choline kinase isoforms in complex with hemicholinium-3: single amino acid near the active site influences inhibitor sensitivity.

PubMed ID: 20299452

DOI: 10.1074/jbc.m109.039024

PubMed ID: 22782513

Title: Congenital megaconial myopathy due to a novel defect in the choline kinase beta gene.

PubMed ID: 22782513

DOI: 10.1001/archneurol.2011.2333

PubMed ID: 24997086

Title: Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.

PubMed ID: 24997086

DOI: 10.1016/j.ejpn.2014.06.005

PubMed ID: 26067811

Title: Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.

PubMed ID: 26067811

DOI: 10.1007/s10545-015-9856-2

PubMed ID: 25187204

Title: Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.

PubMed ID: 25187204

DOI: 10.1002/mus.24446

PubMed ID: 26006750

Title: Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.

PubMed ID: 26006750

DOI: 10.1016/j.braindev.2015.05.008

PubMed ID: 27138744

Title:

PubMed ID: 27138744

DOI: 10.1016/j.braindev.2016.04.009

Sequence Information:

  • Length: 395
  • Mass: 45271
  • Checksum: 18367468B22FB9CE
  • Sequence:
    • MAAEATAVAG SGAVGGCLAK DGLQQSKCPD TTPKRRRASS LSRDAERRAY QWCREYLGGA 
WRRVQPEELR VYPVSGGLSN LLFRCSLPDH LPSVGEEPRE VLLRLYGAIL QGVDSLVLES 
VMFAILAERS LGPQLYGVFP EGRLEQYIPS RPLKTQELRE PVLSAAIATK MAQFHGMEMP 
FTKEPHWLFG TMERYLKQIQ DLPPTGLPEM NLLEMYSLKD EMGNLRKLLE STPSPVVFCH 
NDIQEGNILL LSEPENADSL MLVDFEYSSY NYRGFDIGNH FCEWVYDYTH EEWPFYKARP 
TDYPTQEQQL HFIRHYLAEA KKGETLSQEE QRKLEEDLLV EVSRYALASH FFWGLWSILQ 
ASMSTIEFGY LDYAQSRFQF YFQQKGQLTS VHSSS

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.