CKMT1A - creatine kinase, mitochondrial 1A Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 548596

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
Molecular Function GO Annotation Evidence References 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%, as determined by reducing SDS-PAGE.

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