CKMT1B (creatine kinase, mitochondrial 1B)

2003-06-01  

Identity

HGNC
CKMT1B
LOCATION
15q15.3
LOCUSID
1159
ALIAS
CKMT,CKMT1,UMTCK

Other Information

Locus ID:

NCBI: 1159
MIM: 123290
HGNC: 1995
Ensembl: ENSG00000237289

Variants:

dbSNP: 1159
ClinVar: 1159
TCGA: ENSG00000237289
COSMIC: CKMT1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000237289ENST00000300283P12532
ENSG00000237289ENST00000417289C9JJX8
ENSG00000237289ENST00000428981F8WFC7
ENSG00000237289ENST00000437534F8WCN3
ENSG00000237289ENST00000437924C9J995
ENSG00000237289ENST00000441322P12532
ENSG00000237289ENST00000449946C9JFS8
ENSG00000237289ENST00000453733C9J6W7
ENSG00000237289ENST00000453782C9JSQ1
ENSG00000237289ENST00000627381F8WCN3

Expression (GTEx)

0
50
100
150
200
250
300
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
169529842006Altered creatine kinase adenosine triphosphate kinetics in failing hypertrophied human myocardium.65
161667452005Expression and carbonylation of creatine kinase in the quadriceps femoris muscles of patients with chronic obstructive pulmonary disease.20
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
229826732012Overexpression of ubiquitous mitochondrial creatine kinase (uMtCK) accelerates tumor growth by inhibiting apoptosis of breast cancer cells and is associated with a poor prognosis in breast cancer patients.8
241742932014High ubiquitous mitochondrial creatine kinase expression in hepatocellular carcinoma denotes a poor prognosis with highly malignant potential.8
213709952011Expression of leucine-rich repeat kinase 2 (LRRK2) inhibits the processing of uMtCK to induce cell death in a cell culture model system.6
245221922014CKMT1 regulates the mitochondrial permeability transition pore in a process that provides evidence for alternative forms of the complex.0
279093112016Insights into the Phosphoryl Transfer Mechanism of Human Ubiquitous Mitochondrial Creatine Kinase.0

Citation

Dessen P

CKMT1B (creatine kinase, mitochondrial 1B)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/40089/ckmt1b-(creatine-kinase-mitochondrial-1b)