Human Gene CKMT1A (ENST00000413453.7_5) from GENCODE V47lift37
  Description: creatine kinase, mitochondrial 1A, transcript variant 6 (from RefSeq NR_135856.1)
Gencode Transcript: ENST00000413453.7_5
Gencode Gene: ENSG00000223572.10_6
Transcript (Including UTRs)
   Position: hg19 chr15:43,986,057-43,991,420 Size: 5,364 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr15:43,986,249-43,991,287 Size: 5,039 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:43,986,057-43,991,420)mRNA (may differ from genome)Protein (417 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KCRU_HUMAN
DESCRIPTION: RecName: Full=Creatine kinase U-type, mitochondrial; EC=2.7.3.2; AltName: Full=Acidic-type mitochondrial creatine kinase; Short=Mia-CK; AltName: Full=Ubiquitous mitochondrial creatine kinase; Short=U-MtCK; Flags: Precursor;
FUNCTION: Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa.
CATALYTIC ACTIVITY: ATP + creatine = ADP + phosphocreatine.
SUBUNIT: Exists as an octamer composed of four MTCK homodimers.
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side.
MISCELLANEOUS: Mitochondrial creatine kinase binds cardiolipin.
SIMILARITY: Belongs to the ATP:guanido phosphotransferase family.
SIMILARITY: Contains 1 phosphagen kinase C-terminal domain.
SIMILARITY: Contains 1 phosphagen kinase N-terminal domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CKMT1A
Diseases sorted by gene-association score: prostate rhabdomyosarcoma (2), dressler's syndrome (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.15 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 158.08 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -49.90192-0.260 Picture PostScript Text
3' UTR -24.70133-0.186 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000749 - ATP-guanido_PTrfase
IPR022415 - ATP-guanido_PTrfase_AS
IPR022414 - ATP-guanido_PTrfase_cat
IPR022413 - ATP-guanido_PTrfase_N
IPR014746 - Gln_synth/guanido_kin_cat_dom

Pfam Domains:
PF00217 - ATP:guanido phosphotransferase, C-terminal catalytic domain
PF02807 - ATP:guanido phosphotransferase, N-terminal domain

SCOP Domains:
48034 - Guanido kinase N-terminal domain
55931 - Glutamine synthetase/guanido kinase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1QK1 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P12532
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003824 catalytic activity
GO:0004111 creatine kinase activity
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0016772 transferase activity, transferring phosphorus-containing groups

Biological Process:
GO:0006600 creatine metabolic process
GO:0016310 phosphorylation

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AK311698 - Homo sapiens cDNA, FLJ18740.
AK316124 - Homo sapiens cDNA, FLJ79023 complete cds, highly similar to Creatine kinase, ubiquitous mitochondrial precursor (EC 2.7.3.2).
AK316319 - Homo sapiens cDNA, FLJ79218 complete cds, highly similar to Creatine kinase, ubiquitous mitochondrial precursor (EC 2.7.3.2).
AK294002 - Homo sapiens cDNA FLJ52580 complete cds, highly similar to Creatine kinase, ubiquitous mitochondrial precursor (EC 2.7.3.2).
AK316052 - Homo sapiens cDNA, FLJ78951 complete cds, highly similar to Creatine kinase, ubiquitous mitochondrial precursor (EC 2.7.3.2).
AK308770 - Homo sapiens cDNA, FLJ98811.
BC001926 - Homo sapiens creatine kinase, mitochondrial 1A, mRNA (cDNA clone MGC:3953 IMAGE:2820642), complete cds.
BC121001 - Homo sapiens creatine kinase, mitochondrial 1B, mRNA (cDNA clone MGC:149594 IMAGE:40116549), complete cds.
BC121002 - Homo sapiens creatine kinase, mitochondrial 1B, mRNA (cDNA clone MGC:149595 IMAGE:40116552), complete cds.
AK223365 - Homo sapiens mRNA for ubiquitous mitochondrial creatine kinase precursor variant, clone: FCC101G11.
JD395160 - Sequence 376184 from Patent EP1572962.
AK295776 - Homo sapiens cDNA FLJ50967 complete cds, highly similar to Creatine kinase, ubiquitous mitochondrial precursor (EC 2.7.3.2).
BC108652 - Homo sapiens creatine kinase, mitochondrial 1B, mRNA (cDNA clone MGC:131646 IMAGE:6190035), complete cds.
BC006467 - Homo sapiens creatine kinase, mitochondrial 1A, mRNA (cDNA clone MGC:2314 IMAGE:3535486), complete cds.
JD228109 - Sequence 209133 from Patent EP1572962.
CU674936 - Synthetic construct Homo sapiens gateway clone IMAGE:100017219 5' read CKMT1A mRNA.
KJ896307 - Synthetic construct Homo sapiens clone ccsbBroadEn_05701 CKMT1A gene, encodes complete protein.
KJ905674 - Synthetic construct Homo sapiens clone ccsbBroadEn_15331 CKMT1A gene, encodes complete protein.
DQ896705 - Synthetic construct Homo sapiens clone IMAGE:100011165; FLH199363.01L; RZPDo839B0181D creatine kinase, mitochondrial 1B (CKMT1B) gene, encodes complete protein; nuclear gene for mitochondrial product.
KJ890920 - Synthetic construct Homo sapiens clone ccsbBroadEn_00314 CKMT1B gene, encodes complete protein.
DQ893385 - Synthetic construct clone IMAGE:100006015; FLH199457.01X; RZPDo839B0182D creatine kinase, mitochondrial 1B (CKMT1B) gene, encodes complete protein; nuclear gene for mitochondrial product.
BT006628 - Homo sapiens creatine kinase, mitochondrial 1 (ubiquitous) mRNA, complete cds.
JD025055 - Sequence 6079 from Patent EP1572962.
JD033426 - Sequence 14450 from Patent EP1572962.
JD026183 - Sequence 7207 from Patent EP1572962.
JD364057 - Sequence 345081 from Patent EP1572962.
JD082076 - Sequence 63100 from Patent EP1572962.
JD449796 - Sequence 430820 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6158 - creatine-phosphate biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein P12532 (Reactome details) participates in the following event(s):

R-HSA-200326 creatine + ATP => phosphocreatine + ADP [CK octamer]
R-HSA-71288 Creatine metabolism
R-HSA-351202 Metabolism of polyamines
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B4DIT8, B7ZA09, CKMT, CKMT1B, ENST00000413453.1, ENST00000413453.2, ENST00000413453.3, ENST00000413453.4, ENST00000413453.5, ENST00000413453.6, KCRU_HUMAN, NR_135856, P12532, Q0VAM3, Q32NF6, Q53FC4, uc319jju.1, uc319jju.2
UCSC ID: ENST00000413453.7_5
RefSeq Accession: NM_001321926.2
Protein: P12532 (aka KCRU_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.