Human Gene CHKB (ENST00000406938.3_7) from GENCODE V47lift37
  Description: choline kinase beta (from RefSeq NM_005198.5)
Gencode Transcript: ENST00000406938.3_7
Gencode Gene: ENSG00000100288.20_9
Transcript (Including UTRs)
   Position: hg19 chr22:51,017,392-51,021,278 Size: 3,887 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr22:51,017,610-51,021,210 Size: 3,601 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:51,017,392-51,021,278)mRNA (may differ from genome)Protein (395 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CHKB_HUMAN
DESCRIPTION: RecName: Full=Choline/ethanolamine kinase; AltName: Full=Choline kinase beta; Short=CK; Short=CKB; EC=2.7.1.32; AltName: Full=Choline kinase-like protein; AltName: Full=Ethanolamine kinase; Short=EK; EC=2.7.1.82; AltName: Full=Ethanolamine kinase beta; Short=EKB; AltName: Full=choline/ethanolamine kinase beta; Short=CKEKB;
FUNCTION: Has a key role in phospholipid biosynthesis. Catalyzes the first step in phosphatidylethanolamine biosynthesis. Phosphorylates ethanolamine, and can also act on choline (in vitro). Has higher activity with ethanolamine. May not significantly contribute to in vivo phosphatidylcholine biosynthesis.
CATALYTIC ACTIVITY: ATP + choline = ADP + phosphocholine.
CATALYTIC ACTIVITY: ATP + ethanolamine = ADP + O- phosphoethanolamine.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=0.57 mM for choline; KM=2.9 mM for ethanolamine;
PATHWAY: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 1/3.
SUBUNIT: Homodimer, and heterodimer with CHKA.
MISCELLANEOUS: This protein is produced by a bicistronic gene which also produces the CPT1B protein from a non-overlapping reading frame.
SIMILARITY: Belongs to the choline/ethanolamine kinase family.
SEQUENCE CAUTION: Sequence=AAB03342.2; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CHKB
Diseases sorted by gene-association score: muscular dystrophy, congenital, megaconial type* (1369), chkb-related muscle diseases* (200), myoblastoma (18), compartment syndrome (17), fainting (12), polymyositis (10), shipyard eye (10), adult dermatomyositis (10), mcardle disease (10), neuroleptic malignant syndrome (10), metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (9), creatine phosphokinase, elevated serum (9), hypersomnia (9), spinal muscular atrophy-3 (8), miyoshi muscular dystrophy 1 (8), myositis (8), dermatomyositis (6), pericardial effusion (6), endometritis (6), myotonia (6), ventricular fibrillation, familial, 1 (5), cardiac rupture (4), acute myocardial infarction (4), duchenne muscular dystrophy (3), narcolepsy (3), myopathy (2), myocardial infarction (2), dilated cardiomyopathy (2), muscular dystrophy, congenital (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 50.73 RPKM in Pituitary
Total median expression: 1087.04 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -29.6068-0.435 Picture PostScript Text
3' UTR -77.90218-0.357 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026712 - Cho/Etha_kinase
IPR011009 - Kinase-like_dom

Pfam Domains:
PF01633 - Choline/ethanolamine kinase
PF01636 - Phosphotransferase enzyme family

SCOP Domains:
56112 - Protein kinase-like (PK-like)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2IG7 - X-ray MuPIT 3FEG - X-ray MuPIT 3LQ3 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y259
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGD  WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004103 choline kinase activity
GO:0004305 ethanolamine kinase activity
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity

Biological Process:
GO:0006629 lipid metabolic process
GO:0006646 phosphatidylethanolamine biosynthetic process
GO:0006656 phosphatidylcholine biosynthetic process
GO:0006657 CDP-choline pathway
GO:0008654 phospholipid biosynthetic process
GO:0016310 phosphorylation
GO:0046474 glycerophospholipid biosynthetic process

Cellular Component:
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AB051457 - Homo sapiens mRNA for KIAA1670 protein, partial cds.
BC131570 - Homo sapiens carnitine palmitoyltransferase 1B (muscle), mRNA (cDNA clone MGC:149140 IMAGE:40108355), complete cds.
AK301477 - Homo sapiens cDNA FLJ56256 complete cds, highly similar to Choline/ethanolamine kinase.
BC056404 - Homo sapiens choline kinase beta, mRNA (cDNA clone IMAGE:5755349), with apparent retained intron.
AB029886 - Homo sapiens mRNA for choline/ethanolamine kinase, complete cds.
BC024286 - Homo sapiens choline kinase beta, mRNA (cDNA clone IMAGE:4588146).
AK097775 - Homo sapiens cDNA FLJ40456 fis, clone TESTI2041664, highly similar to CHOLINE/ETHANOLAMINE KINASE (EC 2.7.1.32).
BC037162 - Homo sapiens choline kinase beta, mRNA (cDNA clone IMAGE:4762199), partial cds.
BC050443 - Homo sapiens choline kinase beta, mRNA (cDNA clone IMAGE:5764328), with apparent retained intron.
BC082263 - Homo sapiens choline kinase beta, mRNA (cDNA clone MGC:99491 IMAGE:6384695), complete cds.
AL096780 - Novel human gene mapping to chomosome 22p13.33 similar to mouse Choline/Ethanolamine Kinase (O55229).
JD119658 - Sequence 100682 from Patent EP1572962.
JD180363 - Sequence 161387 from Patent EP1572962.
JD263473 - Sequence 244497 from Patent EP1572962.
JD335723 - Sequence 316747 from Patent EP1572962.
JD075808 - Sequence 56832 from Patent EP1572962.
BC101488 - Homo sapiens choline kinase beta, mRNA (cDNA clone MGC:126537 IMAGE:8068994), complete cds.
BC113521 - Homo sapiens choline kinase beta, mRNA (cDNA clone MGC:142081 IMAGE:8322573), complete cds.
CR456419 - Homo sapiens CHKL full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.CHKL.V2).
JD540951 - Sequence 521975 from Patent EP1572962.
JD249181 - Sequence 230205 from Patent EP1572962.
CU012980 - Homo sapiens CHKB, mRNA (cDNA clone IMAGE:100000141), complete cds, with stop codon, in Gateway system.
AL096781 - Novel human gene mapping to chomosome 22q13.33.
AK314324 - Homo sapiens cDNA, FLJ95084, Homo sapiens choline kinase-like (CHKL), transcript variant 1,mRNA.
HQ258226 - Synthetic construct Homo sapiens clone IMAGE:100072535 choline kinase beta (CHKB) gene, encodes complete protein.
CU013268 - Homo sapiens CHKB, mRNA (cDNA clone IMAGE:100000045), complete cds, without stop codon, in Gateway system.
AB528104 - Synthetic construct DNA, clone: pF1KE0493, Homo sapiens CHKB gene for choline kinase beta, without stop codon, in Flexi system.
JD257367 - Sequence 238391 from Patent EP1572962.
JD545796 - Sequence 526820 from Patent EP1572962.
JD120863 - Sequence 101887 from Patent EP1572962.
JD525298 - Sequence 506322 from Patent EP1572962.
JD132641 - Sequence 113665 from Patent EP1572962.
JD303869 - Sequence 284893 from Patent EP1572962.
JD250345 - Sequence 231369 from Patent EP1572962.
JD268251 - Sequence 249275 from Patent EP1572962.
JD423729 - Sequence 404753 from Patent EP1572962.
JD559450 - Sequence 540474 from Patent EP1572962.
JD105258 - Sequence 86282 from Patent EP1572962.
JD335645 - Sequence 316669 from Patent EP1572962.
JD461051 - Sequence 442075 from Patent EP1572962.
JD113703 - Sequence 94727 from Patent EP1572962.
JD466559 - Sequence 447583 from Patent EP1572962.
JD472029 - Sequence 453053 from Patent EP1572962.
JD391689 - Sequence 372713 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-7782 - plasmalogen biosynthesis
PWY3O-450 - phosphatidylcholine biosynthesis
PWY4FS-6 - phosphatidylethanolamine biosynthesis II

Reactome (by CSHL, EBI, and GO)

Protein Q9Y259 (Reactome details) participates in the following event(s):

R-HSA-1483222 ETA is phosphorylated to PETA by CHK/ETNK
R-HSA-1483004 Cho is phosphorylated to PCho by CHK dimer
R-HSA-1483213 Synthesis of PE
R-HSA-1483191 Synthesis of PC
R-HSA-1483206 Glycerophospholipid biosynthesis
R-HSA-1483257 Phospholipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A0PJM6, CHETK, CHKB_HUMAN, CHKL, ENST00000406938.1, ENST00000406938.2, NM_005198, Q13388, Q9Y259, uc319drj.1, uc319drj.2
UCSC ID: ENST00000406938.3_7
RefSeq Accession: NM_005198.5
Protein: Q9Y259 (aka CHKB_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CHKB:
chkb-md (CHKB-Related Muscular Dystrophy)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.