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CKM Gene(Protein Coding)

Creatine Kinase, M-Type

GCID:
GC19M045306
GIFtS:
52
Genes Participants
UDN Logo

Aliases for CKM Gene

Aliases for CKM Gene

  • Creatine Kinase, M-Type 2 3 5
  • Creatine Phosphokinase M-Type 3 4
  • Creatine Kinase M Chain 3 4
  • Creatine Kinase, Muscle 2 3
  • CPK-M 3 4
  • CKMM 3 4
  • M-CK 3 4
  • Creatine Kinase M-Type 3
  • EC 2.7.3.2 4

External Ids for CKM Gene

Previous HGNC Symbols for CKM Gene

  • CKMM

Previous GeneCards Identifiers for CKM Gene

  • GC19M046454
  • GC19M046200
  • GC19M050485
  • GC19M050501
  • GC19M045809
  • GC19M042241

Summaries for CKM Gene

Entrez Gene Summary for CKM Gene

  • 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]

GeneCards Summary for CKM Gene

CKM (Creatine Kinase, M-Type) is a Protein Coding gene. Diseases associated with CKM include Prostate Rhabdomyosarcoma and Dressler's Syndrome. Among its related pathways are Metabolism and Arginine and proline metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and creatine kinase activity. An important paralog of this gene is CKB.

UniProtKB/Swiss-Prot for CKM Gene

  • 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.

Gene Wiki entry for CKM Gene

Additional gene information for CKM Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CKM Gene

Genomics for CKM Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for CKM Gene

Promoters and enhancers for CKM Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19J045320 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 660.8 +0.3 329 4.7 BCOR ZNF768 PTBP1 PKNOX1 ESRRA ZMYM3 ZNF335 ZNF121 ZFHX2 POLR2A CKM KLC3 MARK4 ERCC2 DMPK RTN2 PPM1N CD3EAP GC19M045307
GH19J045136 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.4 +185.5 185470 2.4 HDGF BMI1 IRF4 GLIS2 ZNF143 ATF7 IKZF2 RUNX3 CREM EGR2 ENSG00000267044 RELB CKM CLASRP PPP1R37 GC19M045151 MARK4
GH19J045231 Promoter/Enhancer 0.7 EPDnew ENCODE 11.1 +90.9 90893 1.2 EXOC3L2 CKM ERCC2 CD3EAP PPP1R13L RELB CLASRP LOC100420902 GC19M045193 GC19M045188
GH19J045133 Enhancer 0.7 ENCODE dbSUPER 10.4 +188.3 188250 2 MITF USF1 USF2 WT1 PPP1R37 RELB CKM CLASRP NKPD1 ENSG00000267044 PIR47818 MARK4
GH19J045326 Enhancer 1.3 Ensembl ENCODE dbSUPER 0.7 -3.4 -3426 0.8 HDGF PKNOX1 ATF1 ARNT FEZF1 ZBTB7B ETS1 ZNF207 ZNF143 ZFP91 IRF2BP1 ZNF180 ZNF112 CEACAM19 ZNF285 SNRPD2 ENSG00000267114 CCDC61 ERCC2 CKM
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CKM on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CKM gene promoter:
  • MyoD
  • Roaz
  • Pax-4a
  • Arnt
  • USF-1
  • USF1

Genomic Locations for CKM Gene

Genomic Locations for CKM Gene
chr19:45,306,413-45,322,977
(GRCh38/hg38)
Size:
16,565 bases
Orientation:
Minus strand
chr19:45,809,671-45,826,235
(GRCh37/hg19)
Size:
16,565 bases
Orientation:
Minus strand

Genomic View for CKM Gene

Genes around CKM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CKM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CKM Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CKM Gene

Proteins for CKM Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CKM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06732-KCRM_HUMAN
    Recommended name:
    Creatine kinase M-type
    Protein Accession:
    P06732
    Secondary Accessions:
    • Q96QL9

    Protein attributes for CKM Gene

    Size:
    381 amino acids
    Molecular mass:
    43101 Da
    Quaternary structure:
    • Dimer of identical or non-identical chains, which can be either B (brain type) or M (muscle type). With MM being the major form in skeletal muscle and myocardium, MB existing in myocardium, and BB existing in many tissues, especially brain.

    Three dimensional structures from OCA and Proteopedia for CKM Gene

neXtProt entry for CKM Gene

Protein Expression for CKM Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CKM Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CKM Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CKM Gene

Domains & Families for CKM Gene

Gene Families for CKM Gene

Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CKM Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CKM Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P06732

UniProtKB/Swiss-Prot:

KCRM_HUMAN :
  • Belongs to the ATP:guanido phosphotransferase family.
Family:
  • Belongs to the ATP:guanido phosphotransferase family.
genes like me logo Genes that share domains with CKM: view

Function for CKM Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CKM Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + creatine = ADP + phosphocreatine.
GENATLAS Biochemistry:
creatine kinase,muscle

Enzyme Numbers (IUBMB) for CKM Gene

Phenotypes From GWAS Catalog for CKM Gene

Gene Ontology (GO) - Molecular Function for CKM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004111 creatine kinase activity TAS --
GO:0005515 protein binding IPI 12972258
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with CKM: view
genes like me logo Genes that share phenotypes with CKM: view

Animal Models for CKM Gene

MGI Knock Outs for CKM:
  • Ckm Ckm<tm1Bew>

Animal Model Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CKM Gene

Localization for CKM Gene

Subcellular locations from UniProtKB/Swiss-Prot for CKM Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CKM gene
Compartment Confidence
cytosol 5
nucleus 3
cytoskeleton 2
mitochondrion 2
plasma membrane 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CKM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CKM: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CKM Gene

Pathways & Interactions for CKM Gene

genes like me logo Genes that share pathways with CKM: view

Gene Ontology (GO) - Biological Process for CKM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006600 creatine metabolic process TAS --
GO:0016310 phosphorylation IEA --
GO:0046314 phosphocreatine biosynthetic process IEA --
genes like me logo Genes that share ontologies with CKM: view

No data available for SIGNOR curated interactions for CKM Gene

Drugs & Compounds for CKM Gene

Products:

  1. Drug

(16) Drugs for CKM Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Creatine Approved, Investigational Nutra Target, ligand 139
(Diaminomethyl-Methyl-Amino)-Acetic Acid Experimental Pharma Target 0
D-Arginine Experimental Pharma Target 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0
Phosphocreatine Nutra Target, ligand 10

(11) Additional Compounds for CKM Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with CKM: view

Transcripts for CKM Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CKM Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(987) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CKM Gene

Creatine kinase, muscle:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CKM Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b
SP1:
SP2: - - - - - - -
SP3: - -
SP4: -

Relevant External Links for CKM Gene

GeneLoc Exon Structure for
CKM
ECgene alternative splicing isoforms for
CKM

Expression for CKM Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CKM Gene

mRNA expression in normal human tissues for CKM Gene
mRNA expression by BioGPS for CKM GenemRNA expression by GTEx for CKM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CKM Gene

This gene is overexpressed in Muscle - Skeletal (x41.3) and Heart - Left Ventricle (x6.9).

Protein differential expression in normal tissues from HIPED for CKM Gene

This gene is overexpressed in Tonsil (41.3), Heart (14.2), and Oral epithelium (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CKM Gene



Protein tissue co-expression partners for CKM Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CKM Gene:

CKM

SOURCE GeneReport for Unigene cluster for CKM Gene:

Hs.334347

Evidence on tissue expression from TISSUES for CKM Gene

  • Muscle(5)
  • Heart(4.7)
  • Nervous system(4.5)
  • Liver(4.4)
  • Thyroid gland(2.5)
  • Stomach(2.4)
genes like me logo Genes that share expression patterns with CKM: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CKM Gene

Orthologs for CKM Gene

This gene was present in the common ancestor of animals.

Orthologs for CKM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CKM 34 33
  • 99.39 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CKM 34
  • 94 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia CKM 34 33
  • 91.95 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CKM 34 33
  • 91.6 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ckm 16 34 33
  • 90.29 (n)
rat
(Rattus norvegicus)
 Mammalia Ckm 33
  • 89.5 (n)
oppossum
(Monodelphis domestica)
 Mammalia CKM 34
  • 52 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CKM 33
  • 81.45 (n)
lizard
(Anolis carolinensis)
 Reptilia CKM 34
  • 93 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ckm 33
  • 78.92 (n)
MGC75682 33
African clawed frog
(Xenopus laevis)
 Amphibia ckm-prov 33
zebrafish
(Danio rerio)
 Actinopterygii ckmb 34
  • 85 (a)
 OneToMany
ckma 34 33
  • 80.66 (n)
 OneToMany
ckm 33
fruit fly
(Drosophila melanogaster)
 Insecta CG5144 34 35
  • 36 (a)
 ManyToMany
Argk 34 35
  • 27 (a)
 ManyToMany
CG4546 34 35
  • 26 (a)
 ManyToMany
CG30274 34
  • 18 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea ZC434.8 34 35
  • 40 (a)
 ManyToMany
F44G3.2 34 35
  • 37 (a)
 ManyToMany
F46H5.3 34
  • 37 (a)
 ManyToMany
W10C8.5 34 35
  • 36 (a)
 ManyToMany
F32B5.1 34 35
  • 34 (a)
 ManyToMany
F11G11.13 34
  • 32 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.6164 34
  • 68 (a)
 ManyToMany
-- 34
  • 66 (a)
 ManyToMany
Species where no ortholog for CKM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CKM Gene

ENSEMBL:
Gene Tree for CKM (if available)
TreeFam:
Gene Tree for CKM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CKM: view image

Paralogs for CKM Gene

Paralogs for CKM Gene

(4) SIMAP similar genes for CKM Gene using alignment to 1 proteins:

  • KCRM_HUMAN
genes like me logo Genes that share paralogs with CKM: view

Variants for CKM Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for CKM Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000102560 -- 45,320,135(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000229767 -- 45,311,880(-) G/A coding_sequence_variant, synonymous_variant
rs1000561040 -- 45,320,012(-) A/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000604221 -- 45,323,978(-) T/C upstream_transcript_variant
rs1000910743 -- 45,316,338(-) /T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CKM Gene

Variant ID Type Subtype PubMed ID
esv2660204 CNV deletion 23128226
nsv1063547 CNV gain 25217958
nsv579866 CNV gain 21841781
nsv833844 CNV loss 17160897
nsv833845 CNV loss 17160897

Variation tolerance for CKM Gene

Residual Variation Intolerance Score: 27.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.57; 30.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CKM Gene

Human Gene Mutation Database (HGMD)
CKM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CKM

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CKM Gene

Disorders for CKM Gene

MalaCards: The human disease database

(13) MalaCards diseases for CKM Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
prostate rhabdomyosarcoma
  • rhabdomyosarcoma of the prostate
dressler's syndrome
  • dressler syndrome
mcleod syndrome
  • mclds
borna disease
  • enzootic encephalomyelitis
epidermolysis bullosa simplex with muscular dystrophy
  • ebsmd
- elite association - COSMIC cancer census association via MalaCards
Search CKM in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CKM

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CKM: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CKM Gene

Publications for CKM Gene

  1. Muscle-specific creatine kinase gene polymorphism and running economy responses to an 18-week 5000-m training programme. (PMID: 17000714) Zhou DQ … Wen L (British journal of sports medicine 2006) 3 22 25 44 58
  2. Is there an association between ACE and CKMM polymorphisms and cycling performance status during 3-week races? (PMID: 16037885) Lucía A … Earnest CP (International journal of sports medicine 2005) 3 22 44 58
  3. [An A/G polymorphism in muscle-specific creatine kinase gene in Han population in Northern China]. (PMID: 16120572) Zhou DQ … Gong L (Yi chuan = Hereditas 2005) 3 22 44 58
  4. The caregene study: muscle-specific creatine kinase gene and aerobic power in coronary artery disease. (PMID: 16079652) Defoor J … Vanhees L (European journal of cardiovascular prevention and rehabilitation : official journal of the European Society of Cardiology, Working Groups on Epidemiology & Prevention and Cardiac Rehabilitation and Exercise Physiology 2005) 3 22 44 58
  5. Crystallization and preliminary X-ray analysis of human muscle creatine kinase. (PMID: 10089465) Tang L … Lin ZJ (Acta crystallographica. Section D, Biological crystallography 1999) 3 4 22 58

Products for CKM Gene

  • Addgene plasmids for CKM

Sources for CKM Gene

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