Misplaced Pages

CKB (gene)

Article snapshot taken from[REDACTED] with creative commons attribution-sharealike license. Give it a read and then ask your questions in the chat. We can research this topic together.
Protein and coding gene in humans "CKBE" redirects here. For the radio station, see CKBE-FM.
CKB
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3B6R, 3DRB, 3DRE

Identifiers
AliasesCKB, B-CK, BCK, CKBB, HEL-211, HEL-S-29, creatine kinase B, CPK-B
External IDsOMIM: 123280; MGI: 88407; HomoloGene: 37530; GeneCards: CKB; OMA:CKB - orthologs
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)
Chromosome 14 (human)Genomic location for CKBGenomic location for CKB
Band14q32.33Start103,519,667 bp
End103,522,833 bp
Gene location (Mouse)
Chromosome 12 (mouse)
Chr.Chromosome 12 (mouse)
Chromosome 12 (mouse)Genomic location for CKBGenomic location for CKB
Band12 F1|12 61.09 cMStart111,635,795 bp
End111,638,772 bp
RNA expression pattern
Bgee
HumanMouse (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
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
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 MbChr 12: 111.64 – 111.64 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse
creatine kinase, ectopic expression
Identifiers
SymbolCKBE
NCBI gene1156
HGNC1992
OMIM123270
Other data
LocusChr. 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.

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.

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.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000166165Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000001270Ensembl, 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). "". 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

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


Stub icon

This article on a gene on human chromosome 14 is a stub. You can help Misplaced Pages by expanding it.

Categories:
CKB (gene) Add topic