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  2. CKMT1A - creatine kinase, mitochondrial 1A Gene

CKMT1A - creatine kinase, mitochondrial 1A Gene

Homo sapiens

Also known as CKMT1; U-MtCK; mia-CK

Gene ID: 548596 | Gene type: protein coding

About CKMT1A

Cytogenetic location: 15q15.3 Genomic coordinates (GRCh38): 15:43,692,786-43,699,222 (from NCBI)

This gene has 8 transcripts (splice variants), 217 orthologues and 4 paralogues. Biased expression in colon (RPKM 49.4), duodenum (RPKM 46.7) and 12 other tissues.

Summary

Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate Cancer cells via Apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008]

CKMT1A Products(5)

mRNA Protein Name
NM_001015001.2 NP_001015001.1 creatine kinase U-type, mitochondrial isoform 1 precursor
NM_001321926.2 NP_001308855.1 creatine kinase U-type, mitochondrial isoform 1 precursor
NM_001321927.1 NP_001308856.1 creatine kinase U-type, mitochondrial isoform 2
NM_001321928.1 NP_001308857.1 creatine kinase U-type, mitochondrial isoform 2
NM_001321929.1 NP_001308858.1 creatine kinase U-type, mitochondrial isoform 3
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

creatine kinase U-type, mitochondrial

acidic-type mitochondrial creatine kinase

Recombinant CKMT1A Proteins

Cat. No. Product Name Accession Purity
HY-P76264 CKMT1A Protein, Human (sf9, His) P12532 (A40-H417) ≥95%

Related Diseases

Diseases Alias
Prostate Rhabdomyosarcoma

Rhabdomyosarcoma Of The Prostate

Mitochondrial Complex V Deficiency, Nuclear Type 3

Mitochondrial Complex Iii Deficiency Nuclear Type 5

MC5DN3

Mitochondrial Complex Iii Deficiency, Nuclear Type 5

Mitochondrial Complex V Deficiency Nuclear Type 3

MC3DN5

Mitochondrial Complex V Deficiency, Atp5e Type

Mitochondrial Complex Iii Deficiency, Nuclear 5

Mitochondrial Complex V Deficiency, Nuclear Type 3

Mitochondrial Complex V Deficiency Atp5e Type

Mitochondrial Complex V Deficiency Type 3

Mitochondrial Complex V Deficiency, Nuclear, Type 3

Dressler'S Syndrome

Dressler Syndrome

Postmyocardial Infarction Syndrome

Donath-Landsteiner Hemolytic Anemia

Post-Myocardial Infarction Syndrome

Postmyocardial Infarction Pericarditis

Cerebral Creatine Deficiency Syndrome

Deficiency, Cerebral Creatine, Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus CKMT1A MGD MGI:99441