CKMT1A creatine kinase, mitochondrial 1A [Homo sapiens] - Gene

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Summary

Official Symbol: CKMT1Aprovided by HGNC
Official Full Name: creatine kinase, mitochondrial 1Aprovided by HGNC
Primary source: HGNC:31736
See related: Ensembl:ENSG00000223572; HPRD:18683; MIM:613415; Vega:OTTHUMG00000059898
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CKMT1; UMTCK; CKMT1B; FLJ50967
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]

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Genomic context

Location :: 15q15

Sequence :: Chromosome: 15; NC_000015.9 (43985084..43991420)

See CKMT1A in Epigenomics, MapViewer

Chromosome 15 - NC_000015.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
ASB9 interacts with the creatine kinase system and negatively regulates cell growth.
Title: ASB9 interacts with ubiquitous mitochondrial creatine kinase and inhibits mitochondrial function.
uMtCK in prostate neoplasm cells (LNCaP) contributes to overproduction of reactive oxygen species, activation of Akt signaling pathway and more aggressive phenotypes including androgen independence development.
Title: Ubiquitous mitochondrial creatine kinase is overexpressed in the conditioned medium and the extract of LNCaP lineaged androgen independent cell lines and facilitates prostate cancer progression.
MtCK, but not NDPK-D, shows some specificity in the nature of the lipids transferred and it is not active with phosphatidylcholine alone
Title: Novel lipid transfer property of two mitochondrial proteins that bridge the inner and outer membranes.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Creatine kinase, mitochondrial 1A	Creatine kinase, mitochondrial 1A	CKMT1A	HPRD	PubMed
Creatine kinase, mitochondrial 1A	P21796	VDAC1	HPRD	PubMed
P12532	P12532	CKMT1A	HPRD	PubMed
P12532	P05141	SLC25A5	HPRD	PubMed
P12532	P21796	VDAC1	HPRD	PubMed
BioGRID:139227	BioGRID:126615	ASB9	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity; Co-localization
BioGRID:139227	BioGRID:113164	UBC	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
creatine kinase activity	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cellular nitrogen compound metabolic process	TAS Traceable Author Statement more info
creatine metabolic process	TAS Traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
membrane	IEA Inferred from Electronic Annotation more info
mitochondrial inner membrane	TAS Traceable Author Statement more info
mitochondrion	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: creatine kinase U-type, mitochondrial

Names: creatine kinase U-type, mitochondrial; U-MtCK; mia-CK; ubiquitous mitochondrial creatine kinase; acidic-type mitochondrial creatine kinase; creatine kinase, mitochondrial 1 (ubiquitous)

NP_001015001.1

EC 2.7.3.2

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001015001.1 → NP_001015001.1 creatine kinase U-type, mitochondrial precursor

Status: REVIEWED

Source sequence(s)

BC006467, BM923431

Consensus CDS

CCDS32217.1

UniProtKB/Swiss-Prot

P12532

Related

ENSP00000413165, OTTHUMP00000066270, ENST00000434505, OTTHUMT00000133135

Conserved Domains (1) summary

cd00716
Location:49 – 406
Blast Score: 1668

creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes.

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000015.9 Reference GRCh37.p5 Primary Assembly

Range

43985084..43991420

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000147.1 Alternate HuRef

Range

20807783..20814119

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC011330.8 (161924..168260)	None
mRNA	AK223365.1	BAD97085.1
mRNA	AK295776.1	BAG58600.1
mRNA	AK316052.1	BAH14423.1
mRNA	AK316124.1	BAH14495.1
mRNA	AK316319.1	BAH14690.1
mRNA	BC001926.1	AAH01926.1
mRNA	BC006467.1	AAH06467.1
mRNA	BM923431.1	None
mRNA	BT006628.1	AAP35274.1