Human Gene CKM (uc002pbd.4)
  Description: Homo sapiens creatine kinase, muscle (CKM), mRNA.
RefSeq Summary (NM_001824): The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr19:45,809,671-45,826,235 Size: 16,565 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr19:45,810,008-45,822,971 Size: 12,964 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:45,809,671-45,826,235)mRNA (may differ from genome)Protein (381 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KCRM_HUMAN
DESCRIPTION: RecName: Full=Creatine kinase M-type; EC=2.7.3.2; AltName: Full=Creatine kinase M chain; AltName: Full=M-CK;
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: Dimer of identical or non-identical chains. With MM being the major form in skeletal muscle and myocardium, MB existing in myocardium, and BB existing in many tissues, especially brain.
SUBCELLULAR LOCATION: Cytoplasm.
SIMILARITY: Belongs to the ATP:guanido phosphotransferase family.
SIMILARITY: Contains 1 phosphagen kinase C-terminal domain.
SIMILARITY: Contains 1 phosphagen kinase N-terminal domain.
WEB RESOURCE: Name=Wikipedia; Note=Creatine kinase entry; URL="http://en.wikipedia.org/wiki/Creatine_kinase";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ckm/";
WEB RESOURCE: Name=Wikipedia; Note=CKM entry; URL="http://en.wikipedia.org/wiki/CKM_(gene)";

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CKM
CDC HuGE Published Literature: CKM
Positive Disease Associations: endurance performance
Related Studies:
  1. endurance performance
    Duoqi, Z. et al. 2006, CKMM Gene Polymorphism and Running Economy responses to a 18-week 5000 m training program, Br J Sports Med 2006. [PubMed 17000714]
    The findings indicate that the CKMM gene polymorphism may contribute to individual running economy responses to endurance training.

-  MalaCards Disease Associations
  MalaCards Gene Search: CKM
Diseases sorted by gene-association score: prostate rhabdomyosarcoma (11), dressler's syndrome (11), borna disease (10), myotonic dystrophy (8), duchenne muscular dystrophy (8), prostate sarcoma (7), epidermolysis bullosa simplex with muscular dystrophy (7), acute contagious conjunctivitis (6), kniest dysplasia (6), spinal muscular atrophy-3 (5), myocardial infarction (4), xanthinuria, type i (4), acute myocardial infarction (4), nephrolithiasis, calcium oxalate (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 11938.10 RPKM in Muscle - Skeletal
Total median expression: 15638.83 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 -45.80175-0.262 Picture PostScript Text
3' UTR -120.64337-0.358 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
1I0E - X-ray


ModBase Predicted Comparative 3D Structure on P06732
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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 orthologGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
 Protein SequenceProtein Sequence Protein Sequence 
 AlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003824 catalytic activity
GO:0004111 creatine kinase activity
GO:0005515 protein binding
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
GO:0046314 phosphocreatine biosynthetic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC007462 - Homo sapiens creatine kinase, muscle, mRNA (cDNA clone MGC:12329 IMAGE:3934232), complete cds.
LP886323 - Sequence 215 from Patent WO2017201352.
LP978080 - Sequence 215 from Patent WO2017120612.
AK129878 - Homo sapiens cDNA FLJ26368 fis, clone HRT05925, highly similar to Creatine kinase, M chain (EC 2.7.3.2).
AK300730 - Homo sapiens cDNA FLJ57602 complete cds, highly similar to Creatine kinase M-type (EC 2.7.3.2).
M14780 - Human creatine kinase M mRNA, complete cds.
JD067498 - Sequence 48522 from Patent EP1572962.
JD026452 - Sequence 7476 from Patent EP1572962.
JD026453 - Sequence 7477 from Patent EP1572962.
JD032571 - Sequence 13595 from Patent EP1572962.
JD087449 - Sequence 68473 from Patent EP1572962.
JD363271 - Sequence 344295 from Patent EP1572962.
JD356034 - Sequence 337058 from Patent EP1572962.
JD251314 - Sequence 232338 from Patent EP1572962.
AK297900 - Homo sapiens cDNA FLJ57403 complete cds, moderately similar to Creatine kinase M-type (EC 2.7.3.2).
JD174581 - Sequence 155605 from Patent EP1572962.
JD137914 - Sequence 118938 from Patent EP1572962.
DQ890539 - Synthetic construct clone IMAGE:100003169; FLH163866.01X; RZPDo839A03162D creatine kinase, muscle (CKM) gene, encodes complete protein.
BT006793 - Homo sapiens creatine kinase, muscle mRNA, complete cds.
AK313281 - Homo sapiens cDNA, FLJ93793, highly similar to Homo sapiens creatine kinase, muscle (CKM), mRNA.
KJ904437 - Synthetic construct Homo sapiens clone ccsbBroadEn_13831 CKM gene, encodes complete protein.
KJ905173 - Synthetic construct Homo sapiens clone ccsbBroadEn_14585 CKM gene, encodes complete protein.
KR710170 - Synthetic construct Homo sapiens clone CCSBHm_00010189 CKM (CKM) mRNA, encodes complete protein.
DQ893701 - Synthetic construct Homo sapiens clone IMAGE:100008161; FLH163862.01L; RZPDo839A03161D creatine kinase, muscle (CKM) gene, encodes complete protein.
M16440 - Human creatine kinase M mRNA, partial cds.
JD078783 - Sequence 59807 from Patent EP1572962.
JD391228 - Sequence 372252 from Patent EP1572962.
JD104508 - Sequence 85532 from Patent EP1572962.
JD246451 - Sequence 227475 from Patent EP1572962.
MB419102 - JP 2019519516-A/64: MRNA COMBINATION THERAPIES FOR THE TREATMENT OF CANCER.
MB419967 - JP 2019519516-A/929: MRNA COMBINATION THERAPIES FOR THE TREATMENT OF CANCER.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00330 - Arginine and proline metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY3DJ-35588 - creatine biosynthesis
PWY3DJ-471 - creatine-phosphate energy transfer

BioCarta from NCI Cancer Genome Anatomy Project
h_SARSpathway - SARS Coronavirus Protease

Reactome (by CSHL, EBI, and GO)

Protein P06732 (Reactome details) participates in the following event(s):

R-HSA-200318 creatine + ATP => phosphocreatine + ADP [CKB,CKM]
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: CKMM, KCRM_HUMAN, NM_001824, NP_001815, P06732, Q96QL9, uc002pbd.3
UCSC ID: uc002pbd.4
RefSeq Accession: NM_001824
Protein: P06732 (aka KCRM_HUMAN)
CCDS: CCDS12659.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001824.4
exon count: 8CDS single in 3' UTR: no RNA size: 1666
ORF size: 1146CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2204.00frame shift in genome: no % Coverage: 99.52
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.