CKB (gene)

creatine kinase, ectopic expression
creatine kinase, ectopic expression
Identifiers
Symbol	CKBE
NCBI gene	1156
HGNC	1992
OMIM	123270
Other data
Locus	Chr. 14 q32.3

CKB
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3B6R, 3DRB, 3DRE
Identifiers
Aliases	CKB, B-CK, BCK, CKBB, HEL-211, HEL-S-29, creatine kinase B, CPK-B
External IDs	OMIM: 123280 MGI: 88407 HomoloGene: 37530 GeneCards: CKB
Gene location (Human)
Chr.	Chromosome 14 (human)[1]
End	103,522,833 bp[1]
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)[2]
End	111,638,772 bp[2]
RNA expression pattern
	Top expressed in
	prefrontal cortex; ; caudate nucleus; ; nucleus accumbens; ; amygdala; ; cingulate gyrus; ; Brodmann area 10; ; Brodmann area 9; ; ganglionic eminence; ; right uterine tube; ; putamen;
	Top expressed in
	cerebellar cortex; ; olfactory bulb; ; superior frontal gyrus; ; neural tube; ; mesencephalon; ; hypothalamus; ; hippocampus proper; ; urinary bladder; ; stomach; ; duodenum;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity; nucleotide binding; transferase activity, transferring phosphorus-containing groups; kinase activity; creatine kinase activity; catalytic activity; protein binding; ATP binding; ubiquitin protein ligase binding;
Cellular component	myelin sheath; mitochondrion; extracellular exosome; extracellular space; nucleus; cytoplasm; cytosol; dendrite; neuronal cell body;
Biological process	substantia nigra development; phosphorylation; brain development; creatine metabolic process; cellular chloride ion homeostasis; cerebellum development; phosphocreatine biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	1152
	12709
	ENSG00000166165
	ENSMUSG00000001270
	P12277
	Q04447
	NM_001823; NM_001362531
	NM_021273
	NP_001814; NP_001349460
	NP_067248
	Wikidata
View/Edit Human	View/Edit Mouse

Brain-type creatine kinase also known as CK-BB is a creatine kinase that in humans is encoded by the CKB gene.[5]

Function

The protein encoded by this gene, CK-BB, consists of a homodimer of two identical brain-type CK-B subunits. BB-CK is a cytoplasmic enzyme involved in cellular energy homeostasis, with certain fractions of the enzyme being bound to cell membranes, ATPases, and a variety of ATP-requiring enzymes in the cell. There, CK-BB forms tightly coupled microcompartments for in situ regeneration of ATP that has been used up. The encoded protein reversibly catalyzes the transfer of "energy-rich" phosphate between ATP and creatine or between phospho-creatine (PCr) and ADP. Its functional entity is a homodimer (CK-BB) in brain and smooth muscle as well as in other tissues and cells such as neuronal cells, retina, kidney, bone, etc. In heart, a heterodimer (CK-MB) shahil consisting of one CK-B brain-type CK subunit and one CK-M muscle-type CK subunit is prominently expressed. The encoded CK-BB and CK-MB proteins are members of the ATP:guanido phosphotransferase protein family.[6]

Ectopic expression

Ectopic expression (CKBE) of the B (brain) type of creatine kinase (CK-BB) in red cells and platelets is a rare, benign anomaly detected during a newborn screening program for Duchenne muscular dystrophy.[7][8]

References

GRCh38: Ensembl release 89: ENSG00000166165 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000001270 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Mariman EC, Schepens JT, Wieringa B (August 1989). "Complete nucleotide sequence of the human creatine kinase B gene". Nucleic Acids Res. 17 (15): 6385. doi:10.1093/nar/17.15.6385. PMC 318286. PMID 2771648.
"Entrez Gene: CKB".
Kotz R, Leber H, Ramach W, Arbes H, Wolf A (July 1977). "[Clinical observations on the use of high-dose methotrexate treatment in osteogenic sarcoma (author's transl)]". Wien. Klin. Wochenschr. (in German). 89 (14): 474–9. PMID 70889.
Wienker TF, Ulferts A, Ott J, Bender K, Scheuerbrandt G, Arnold H, Ropers HH (1985). "A dominant mutation causing ectopic expression of the creatine kinase B gene maps on chromosome 14". Cytogenet. Cell Genet. 40: 776. doi:10.1159/000316956.

External links

Creatine+Kinase,+BB+Form at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
Human CKB genome location and CKB gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000166165 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000001270 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid2771648-5] Mariman EC, Schepens JT, Wieringa B (August 1989). "Complete nucleotide sequence of the human creatine kinase B gene". Nucleic Acids Res. 17 (15): 6385. doi:10.1093/nar/17.15.6385. PMC 318286. PMID 2771648.

[entrez-6] "Entrez Gene: CKB".

[pmid70889-7] Kotz R, Leber H, Ramach W, Arbes H, Wolf A (July 1977). "[Clinical observations on the use of high-dose methotrexate treatment in osteogenic sarcoma (author's transl)]". Wien. Klin. Wochenschr. (in German). 89 (14): 474–9. PMID 70889.

[8] Wienker TF, Ulferts A, Ott J, Bender K, Scheuerbrandt G, Arnold H, Ropers HH (1985). "A dominant mutation causing ectopic expression of the creatine kinase B gene maps on chromosome 14". Cytogenet. Cell Genet. 40: 776. doi:10.1159/000316956.