CKB (gene)

"CKBE" redirects here. For the radio station, see CKBE-FM.

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

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; OMA:CKB - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q32.33 Start 103,519,667 bp[1] End 103,522,833 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12 F1|12 61.09 cM Start 111,635,795 bp[2] End 111,638,772 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum ventricular zone right frontal lobe prefrontal cortex caudate nucleus nucleus accumbens muscle layer of sigmoid colon amygdala cingulate gyrus anterior cingulate cortex Top expressed in cerebellar cortex olfactory bulb Cortex of frontal lobe superior frontal gyrus striatum of neuraxis primary visual cortex neural tube mesencephalon hypothalamus hippocampus proper More reference expression data BioGPS 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 soma Biological process substantia nigra development phosphorylation brain development creatine metabolic process cellular chloride ion homeostasis cerebellum development phosphocreatine biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1152 12709 Ensembl ENSG00000166165 ENSMUSG00000001270 UniProt P12277 Q04447 RefSeq (mRNA) NM_001823 NM_001362531 NM_021273 RefSeq (protein) NP_001814 NP_001349460 NP_067248 Location (UCSC) Chr 14: 103.52 – 103.52 Mb Chr 12: 111.64 – 111.64 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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.^[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

1. GRCh38: Ensembl release 89: ENSG00000166165 – Ensembl, May 2017
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.
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.
6. "Entrez Gene: CKB".
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.

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.