CKB (gene)

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
External IDs	MGI: 88407 HomoloGene: 37530 GeneCards: CKB
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 • cytoplasm • cytosol • myelin sheath • extracellular space • mitochondrion • extracellular exosome Biological process • substantia nigra development • phosphorylation • brain development • creatine metabolic process • cellular chloride ion homeostasis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	1152	12709
Ensembl	ENSG00000166165	ENSMUSG00000001270
UniProt	P12277	Q04447
RefSeq (mRNA)	NM_001823	NM_021273
RefSeq (protein)	NP_001814.2	NP_067248.1
Location (UCSC)	Chr 14: 103.52 – 103.52 Mb	Chr 12: 111.67 – 111.67 Mb
PubMed search	[1]	[2]
Wikidata

View/Edit Human

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

Brain-type creatine kinase also known as CK-BB is a creatine kinase that in humans is encoded by the CKB gene.^[3]

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.^[4]

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.^[5][6]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. 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.
4. "Entrez Gene: CKB".
5. 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.
6. 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.

External links

• Creatine Kinase, BB Form at the US National Library of Medicine Medical Subject Headings (MeSH)

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