CKMT1A (creatine kinase, mitochondrial 1A)

2009-08-01  

Identity

HGNC
CKMT1A
LOCATION
15q15.3
LOCUSID
548596
ALIAS
CKMT1,U-MtCK,mia-CK

Other Information

Locus ID:

NCBI: 548596
MIM: 613415
HGNC: 31736
Ensembl: ENSG00000223572

Variants:

dbSNP: 548596
ClinVar: 548596
TCGA: ENSG00000223572
COSMIC: CKMT1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000223572ENST00000411750C9J8F6
ENSG00000223572ENST00000413453P12532
ENSG00000223572ENST00000415044C9JT96
ENSG00000223572ENST00000434505P12532
ENSG00000223572ENST00000457648F8WDP9
ENSG00000223572ENST00000626814F8WCN3

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Arginine and proline metabolismKEGGko00330
Arginine and proline metabolismKEGGhsa00330
Metabolic pathwaysKEGGhsa01100
Creatine pathwayKEGGhsa_M00047
Creatine pathwayKEGGM00047
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Creatine metabolismREACTOMER-HSA-71288
Metabolism of polyaminesREACTOMER-HSA-351202

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
203026262010ASB9 interacts with ubiquitous mitochondrial creatine kinase and inhibits mitochondrial function.23
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
281918872017The creatine kinase pathway is a metabolic vulnerability in EVI1-positive acute myeloid leukemia.17
194156902009Ubiquitous mitochondrial creatine kinase is overexpressed in the conditioned medium and the extract of LNCaP lineaged androgen independent cell lines and facilitates prostate cancer progression.5
170281432007Novel lipid transfer property of two mitochondrial proteins that bridge the inner and outer membranes.0
238803702013Reconstitution of CKMT1 expression fails to rescue cells from mitochondrial membrane potential dissipation: implications for controlling RNAi experiments.0
245221922014CKMT1 regulates the mitochondrial permeability transition pore in a process that provides evidence for alternative forms of the complex.0
301743042018Tyrosine Phosphorylation of Mitochondrial Creatine Kinase 1 Enhances a Druggable Tumor Energy Shuttle Pathway.0

Citation

Dessen P

CKMT1A (creatine kinase, mitochondrial 1A)

Atlas Genet Cytogenet Oncol Haematol. 2009-08-01

Online version: http://atlasgeneticsoncology.org/gene/51001/ckmt1a-(creatine-kinase-mitochondrial-1a)