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CHKB choline kinase beta [ Homo sapiens (human) ]

Gene ID: 1120, updated on 4-May-2015
Official Symbol
CHKBprovided by HGNC
Official Full Name
choline kinase betaprovided by HGNC
Primary source
HGNC:HGNC:1938
See related
Ensembl:ENSG00000100288; HPRD:07631; MIM:612395; Vega:OTTHUMG00000150275
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CK; EK; CKB; EKB; CHKL; CHETK; CKEKB; MDCMC
Summary
Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009]
Orthologs
See CHKB in MapViewer
Location:
22q13.33
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 22 NC_000022.11 (50578958..50582999, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (51017387..51021428, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene synaptonemal complex central element protein 3 Neighboring gene CHKB-CPT1B readthrough (NMD candidate) Neighboring gene carnitine palmitoyltransferase 1B (muscle) Neighboring gene CHKB antisense RNA 1 (head to head) Neighboring gene mitogen-activated protein kinase 8 interacting protein 2 Neighboring gene hornerin-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Readthrough CHKB-CPT1B

Readthrough gene: CHKB-CPT1B, Included gene: CPT1B

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
choline kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
ethanolamine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
CDP-choline pathway IDA
Inferred from Direct Assay
more info
PubMed 
CDP-choline pathway IEA
Inferred from Electronic Annotation
more info
 
glycerophospholipid biosynthetic process TAS
Traceable Author Statement
more info
 
muscle organ development IEA
Inferred from Electronic Annotation
more info
 
phosphatidylcholine biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylethanolamine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylethanolamine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
phosphatidylethanolamine biosynthetic process TAS
Traceable Author Statement
more info
 
phospholipid metabolic process TAS
Traceable Author Statement
more info
 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
choline/ethanolamine kinase
Names
choline/ethanolamine kinase
choline kinase-like protein
ethanolamine kinase beta
NP_005189.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029213.1 RefSeqGene

    Range
    5001..9042
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005198.4NP_005189.2  choline/ethanolamine kinase

    See identical proteins and their annotated locations for NP_005189.2

    Status: REVIEWED

    Source sequence(s)
    AB029886, BE676287, DB106393
    Consensus CDS
    CCDS14099.1
    UniProtKB/TrEMBL
    A0A024R4X4
    UniProtKB/Swiss-Prot
    Q9Y259
    Related
    ENSP00000384400, OTTHUMP00000196839, ENST00000406938, OTTHUMT00000317267
    Conserved Domains (2) summary
    PLN02236
    Location:57388
    PLN02236; choline kinase
    cd05156
    Location:69385
    ChoK_euk; Euykaryotic Choline Kinase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

    Range
    50578958..50582999
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 Alternate CHM1_1.1

    Range
    50976120..50980161
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_152253.1: Suppressed sequence

    Description
    NM_152253.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.