CKMT1B creatine kinase, mitochondrial 1B [Homo sapiens] - Gene

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Summary

Official Symbol: CKMT1Bprovided by HGNC
Official Full Name: creatine kinase, mitochondrial 1Bprovided by HGNC
Primary source: HGNC:1995
See related: Ensembl:ENSG00000237289; HPRD:00424; MIM:123290; Vega:OTTHUMG00000059900
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: CKMT; CKMT1; UMTCK; CKMT1A
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 (43885252..43891604)

See CKMT1B 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.
Because creatine kinase temporally buffers ATP, these observations support the hypothesis that a deficit in myofibrillar energy delivery contributes to chronic heart failure pathophysiology in human left ventricular hypertrophy.
Title: Altered creatine kinase adenosine triphosphate kinetics in failing hypertrophied human myocardium.
Significantly greater creatine kinase carbonylation is associated with chronic obstructive pulmonary disease
Title: Expression and carbonylation of creatine kinase in the quadriceps femoris muscles of patients with chronic obstructive pulmonary disease.

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
BioGRID:107579	BioGRID:126615	ASB9	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity; Co-localization
BioGRID:107579	BioGRID:107252	CALM1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107579	BioGRID:115331	HDAC5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107579	BioGRID:113164	UBC	BioGRID	PubMed	Reconstituted Complex

General gene information

Markers

ECD07463 (e-PCR)
- UniSTS:288517

ECD04669 (e-PCR)
- UniSTS:285740

ECD02867 (e-PCR)
- UniSTS:283960

MARC_3102-3103:991936731:1 (e-PCR)
- UniSTS:230988

RH44541 (e-PCR)
- UniSTS:40525

ECD04708 (e-PCR)
- UniSTS:285779

stSG627800 (e-PCR)
- UniSTS:457841

REN37299 (e-PCR)
- UniSTS:362099

REN37300 (e-PCR)
- UniSTS:362100

REN37301 (e-PCR)
- UniSTS:362101

stSG627804 (e-PCR)
- UniSTS:457845

REN37302 (e-PCR)
- UniSTS:362102

REN37303 (e-PCR)
- UniSTS:362103

REN37304 (e-PCR)
- UniSTS:362104

REN37305 (e-PCR)
- UniSTS:362105

REN37306 (e-PCR)
- UniSTS:362106

REN37307 (e-PCR)
- UniSTS:362107

ECD15837 (e-PCR)
- UniSTS:296852

ECD04000 (e-PCR)
- UniSTS:285080

WI-15193 (e-PCR)
- UniSTS:52123

ECD15593 (e-PCR)
- UniSTS:296610

stSG627881 (e-PCR)
- UniSTS:457894

ECD17948 (e-PCR)
- UniSTS:298960

AB060241 (e-PCR)
- UniSTS:479957

ECD04320 (e-PCR)
- UniSTS:285398

REN37426 (e-PCR)
- UniSTS:362226

REN37428 (e-PCR)
- UniSTS:362228

REN37429 (e-PCR)
- UniSTS:362229

REN37430 (e-PCR)
- UniSTS:362230

ECD02804 (e-PCR)
- UniSTS:283898

ECD01520 (e-PCR)
- UniSTS:282623

Pathways from BioSystems

Arginine and proline metabolism, organism-specific biosystem (from KEGG)
Arginine and proline metabolism, organism-specific biosystem
Arginine and proline metabolism
Arginine and proline metabolism, conserved biosystem (from KEGG)
Arginine and proline metabolism, conserved biosystem
Arginine and proline metabolism
Creatine metabolism, organism-specific biosystem (from REACTOME)
Creatine metabolism, organism-specific biosystemIn humans, creatine is synthesized primarily in the liver and kidney, from glycine, arginine, and S-adenosylmethionine, in a sequence of two reactions. From the liver, creatine is exported to tissues...
Creatine pathway, organism-specific biosystem (from KEGG)
Creatine pathway, organism-specific biosystemPathway module; Nucleotide and amino acid metabolism; Other amino acid metabolism
Creatine pathway, conserved biosystem (from KEGG)
Creatine pathway, conserved biosystemPathway module; Nucleotide and amino acid metabolism; Other amino acid metabolism
Metabolic pathways, organism-specific biosystem (from KEGG)
Metabolic pathways, organism-specific biosystem
Metabolic pathways
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
creatine-phosphate biosynthesis, organism-specific biosystem (from BIOCYC)
creatine-phosphate biosynthesis, organism-specific biosystemGeneral Background : CREATINE (see pathway : GLYCGREAT-PWY) is reversibly phosphorylated by creatine kinase to create a cellular pool of : CREATINE-P (phosphocreatine, phosphoryl-creatine). This po...
creatine-phosphate biosynthesis, conserved biosystem (from BIOCYC)
creatine-phosphate biosynthesis, conserved biosystemGeneral Background |FRAME: CREATINE| (see pathway |FRAME: GLYCGREAT-PWY|) is reversibly phosphorylated by creatine kinase to create a cellular pool of |FRAME: CREATINE-P| (phosphocreatine, phosphory...

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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_066270.1

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_020990.3 → NP_066270.1 creatine kinase U-type, mitochondrial precursor

Status: REVIEWED

Source sequence(s)

AK094322, BI118196, BU674851

Consensus CDS

CCDS10097.1

UniProtKB/Swiss-Prot

P12532

Related

ENSP00000300283, ENST00000300283

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

43885252..43891604

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000147.1 Alternate HuRef

Range

20720218..20721441

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC011330.8 (62092..68444)	None
genomic	J04469.1	AAA98744.1
mRNA	AK094322.1	None
mRNA	AK293685.1	BAG57125.1
mRNA	AK293790.1	BAG57203.1
mRNA	AK293939.1	BAG57316.1
mRNA	AK293961.1	BAG57333.1
mRNA	AK294002.1	BAG57364.1
mRNA	AK294063.1	BAG57409.1
mRNA	AK294735.1	BAG57880.1
mRNA	AK294908.1	BAG57995.1
mRNA	AK296271.1	BAG58981.1
mRNA	AK296472.1	BAG59114.1
mRNA	AK308770.1	None
mRNA	BC108652.1	AAI08653.1
mRNA	BC121001.1	AAI21002.1
mRNA	BC121002.1	AAI21003.1
mRNA	BI118196.1	None
mRNA	BU674851.1	None
other-genetic	DQ893385.2	ABM84311.1
other-genetic	DQ896705.2	ABM87704.1