CKB (gene)

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)
End	103,522,833 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	111,672,338 bp
Gene ontology
Molecular function	• transferase activity ; • nucleotide binding ; • transferase activity, transferring phosphorus-containing groups ; • kinase activity ; • creatine kinase activity ; • catalytic activity ; • GO:0001948 protein binding ; • ATP binding ; • ubiquitin protein ligase binding ;
Cellular component	• myelin ; • mitochondrion ; • extracellular exosome ; • extracellular ; • cell 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

Last updated December 16, 2020

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]

Related Research Articles

Creatine kinase (CK), also known as creatine phosphokinase (CPK) or phosphocreatine kinase, is an enzyme expressed by various tissues and cell types. CK catalyses the conversion of creatine and uses adenosine triphosphate (ATP) to create phosphocreatine (PCr) and adenosine diphosphate (ADP). This CK enzyme reaction is reversible and thus ATP can be generated from PCr and ADP.

Casein kinase II subunit alpha is an enzyme that in humans is encoded by the CSNK2A1 gene.

Casein kinase II subunit alpha' is an enzyme that in humans is encoded by the CSNK2A2 gene.

Calcium/calmodulin-dependent protein kinase type II subunit alpha (CAMKIIα), a.k.a.Ca²⁺/calmodulin-dependent protein kinase II alpha, is one subunit of CamKII, a protein kinase (i.e., an enzyme which phosphorylates proteins) that in humans is encoded by the CAMK2A gene.

Calcium/calmodulin-dependent protein kinase type II beta chain is an enzyme that in humans is encoded by the CAMK2B gene.

Casein kinase II subunit beta is a protein that in humans is encoded by the CSNK2B gene.

cAMP-dependent protein kinase catalytic subunit beta is an enzyme that in humans is encoded by the PRKACB gene.

Creatine kinase, mitochondrial 1B also known as CKMT1B is one of two genes which encode the ubiquitous mitochondrial creatine kinase.

Sodium/potassium-transporting ATPase subunit beta-1 is an enzyme that in humans is encoded by the ATP1B1 gene.

Creatine kinase S-type, mitochondrial is an enzyme that in humans is encoded by the CKMT2 gene.

5'-AMP-activated protein kinase subunit gamma-1 is an enzyme that in humans is encoded by the PRKAG1 gene.

V-type proton ATPase subunit H is an enzyme that in humans is encoded by the ATP6V1H gene.

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 is an enzyme that in humans is encoded by the PFKFB2 gene.

V-type proton ATPase subunit G 3 is an enzyme that in humans is encoded by the ATP6V1G3 gene.

Choline kinase beta (CK), also known as Ethanolamine kinase (EK), Choline kinase-like protein , choline/ethanolamine kinase beta (CKEKB), or Choline/ethanolamine kinase is a protein encoded by the CHKB gene. This gene is found on chromosome 22 in humans. The encoded protein plays a key role in phospholipid biosynthesis. Choline kinase (CK) and ethanolamine kinase (EK) catalyzes the first step in phosphatidylethanolamine biosynthesis. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus.

Sodium/potassium-transporting ATPase subunit beta-3 is an enzyme that in humans is encoded by the ATP1B3 gene. ATP1B3 has also been designated as CD298.

5'-AMP-activated protein kinase subunit gamma-3 is an enzyme that in humans is encoded by the PRKAG3 gene.

V-type proton ATPase subunit E 2 is an enzyme that in humans is encoded by the ATP6V1E2 gene.

Adenylate kinase isoenzyme 4, mitochondrial is an enzyme that in humans is encoded by the AK4 gene.

Creatine kinase, muscle also known as MCK is a creatine kinase that in humans is encoded by the MCK gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000166165 - Ensembl, May 2017
1 2 3 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 US 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] 1 2 3 GRCh38: Ensembl release 89: ENSG00000166165 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

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