CHKB | ENSG00000100288 | NCBI 1120

Details for: CHKB

Gene ID: 1120

Symbol: CHKB

Ensembl ID: ENSG00000100288

Description: choline kinase beta

Associated with

Glycerophospholipid biosynthesis
(R-HSA-1483206)
Metabolism
(R-HSA-1430728)
Metabolism of lipids
(R-HSA-556833)
Phospholipid metabolism
(R-HSA-1483257)
Synthesis of pc
(R-HSA-1483191)
Synthesis of pe
(R-HSA-1483213)
Atp binding
(GO:0005524)
Cdp-choline pathway
(GO:0006657)
Choline kinase activity
(GO:0004103)
Cytoplasm
(GO:0005737)
Cytosol
(GO:0005829)
Ethanolamine kinase activity
(GO:0004305)
Muscle organ development
(GO:0007517)
Phosphatidylethanolamine biosynthetic process
(GO:0006646)
Phosphorylation
(GO:0016310)

Other Information

Proteins

Choline/ethanolamine kinase

Genular Protein ID: 2394261400

Symbol: CHKB_HUMAN

Name: Choline/ethanolamine kinase

UniProtKB Accession Codes:

Q9Y259 A0PJM6 Q13388

Database IDs:

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: 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

The gene details are incomplete or unavailable at the moment.

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.

Details for: CHKB

Associated with

Other Information

Novel expression of equivocal messages containing both regions of choline/ethanolamine kinase and muscle type carnitine palmitoyltransferase I. PubMed ID: 10918069

A genome annotation-driven approach to cloning the human ORFeome. PubMed ID: 15461802

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence of human chromosome 22. PubMed ID: 10591208

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Differential role of human choline kinase alpha and beta enzymes in lipid metabolism: implications in cancer onset and treatment. PubMed ID: 19915674

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. PubMed ID: 21665002

Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features. PubMed ID: 22223895

Congenital megaconial myopathy due to a novel defect in the choline kinase beta gene. PubMed ID: 22782513

Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion. PubMed ID: 24997086

Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients. PubMed ID: 26067811

Novel CHKB mutation expands the megaconial muscular dystrophy phenotype. PubMed ID: 25187204

Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene. PubMed ID: 26006750