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Aliases for CKM Gene

Aliases for CKM Gene

  • Creatine Kinase, M-Type 2 3 5
  • Creatine Kinase, Muscle 2 3
  • Creatine Kinase M Chain 3 4
  • EC 2.7.3.2 4 61
  • CKMM 3 4
  • M-CK 3 4
  • Creatine Kinase M-Type 3
  • EC 2.7.3 61

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 Borna Disease and Prostate Rhabdomyosarcoma. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Regulation of retinoblastoma protein. 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

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

Genomics for CKM Gene

Regulatory Elements for CKM Gene

Enhancers for CKM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G045320 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +0.3 329 4.7 BCOR PKNOX1 ESRRA PTBP1 NFIB ZMYM3 RBBP5 ZNF121 ZFHX2 EGR1 CKM KLC3 MARK4 ERCC2 DMPK RTN2 PPM1N CD3EAP GC19M045307
GH19G045136 1.6 Ensembl ENCODE dbSUPER 10.4 +185.5 185470 2.4 HDGF FOXA2 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 RELB CKM CLASRP PPP1R37 ENSG00000267044 GC19M045151
GH19G045133 1.1 ENCODE dbSUPER 10.4 +188.3 188251 2.0 HDGF HDAC1 WRNIP1 ARID4B SIN3A NFXL1 ZNF143 EGR2 ZNF263 ZNF362 PPP1R37 RELB CKM CLASRP NKPD1 ENSG00000267044 PIR47818
GH19G045231 0.5 ENCODE 11.1 +90.9 90894 1.2 L3MBTL2 ADNP MYNN FOXJ2 CKM ERCC2 CD3EAP PPP1R13L RELB CLASRP LOC100420902 GC19M045188
GH19G045326 1.5 Ensembl ENCODE dbSUPER 0.7 -3.4 -3427 0.8 HDGF PKNOX1 ATF1 ARNT FEZF1 ZBTB7B ETS1 ZNF207 ZNF143 FOS IRF2BP1 ZNF285 ENSG00000267114 ERCC2 CKM RPS16P9
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CKM on UCSC Golden Path with GeneCards custom track

Genomic Location for CKM Gene

Chromosome:
19
Start:
45,306,413 bp from pter
End:
45,322,977 bp from pter
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 StructureGene Density

RefSeq DNA sequence for CKM Gene

Proteins for CKM Gene

  • 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. 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

Selected DME Specific Peptides for CKM Gene

P06732:
  • DNPGHPFI
  • KIEEIFKKAGHPFMW
  • RLQKRGTGGVDT
  • VAGDEESY
  • DRLGSSEV
  • KGGNMKEVFRRFCVGL
  • RVISMEK
  • LIDDHFLFDKPVSPLL
  • DARGIWHN
  • GGDDLDP
  • NEEDHLR
  • DRHGGYKP
  • VVDGVKLMVEMEK
  • GMARDWPDARGIWHN
  • FLVWVNEEDH
  • QQQLIDDHFLF
  • HNNHMAK
  • DARGIWHNDNK
  • DDVIQTGVDNPGHP
  • NEEDHLRVI
  • CPSNLGT
  • LTCPSNLGTGLR
  • AGDEESY
  • PDLSKHNN
  • LPPHCSRGERR
  • YVLSSRVRTGRSI

Post-translational modifications for CKM Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CKM Gene

ENSEMBL proteins:
REFSEQ proteins:

Protein Products

Domains & Families for CKM Gene

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

No data available for Gene Families for CKM Gene

Function for CKM Gene

Molecular function for CKM Gene

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

Enzyme Numbers (IUBMB) 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:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CKM
  • Applied Biological Materials Clones for CKM

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

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Creatine Approved Nutra Target, ligand 130
Adenosine triphosphate Approved Nutra 0
(Diaminomethyl-Methyl-Amino)-Acetic Acid Experimental Pharma Target 0
D-Arginine Experimental Pharma Target 0
Phosphocreatine Pharma 8

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with CKM: view

Transcripts for CKM Gene

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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CKM
  • Applied Biological Materials Clones for CKM

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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, 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

Primer Products

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 35
  • 99.39 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CKM 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CKM 34 35
  • 91.95 (n)
dog
(Canis familiaris)
Mammalia CKM 34 35
  • 91.6 (n)
mouse
(Mus musculus)
Mammalia Ckm 34 16 35
  • 90.29 (n)
rat
(Rattus norvegicus)
Mammalia Ckm 34
  • 89.5 (n)
oppossum
(Monodelphis domestica)
Mammalia CKM 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves CKM 34
  • 81.45 (n)
lizard
(Anolis carolinensis)
Reptilia CKM 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ckm 34
  • 78.92 (n)
MGC75682 34
African clawed frog
(Xenopus laevis)
Amphibia ckm-prov 34
zebrafish
(Danio rerio)
Actinopterygii ckmb 35
  • 85 (a)
OneToMany
ckma 34 35
  • 80.66 (n)
ckm 34
fruit fly
(Drosophila melanogaster)
Insecta Argk 36 35
  • 39 (a)
CG5144 36 35
  • 38 (a)
CG4546 36 35
  • 32 (a)
CG30274 35
  • 18 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ZC434.8 36 35
  • 39 (a)
F32B5.1 36 35
  • 38 (a)
W10C8.5 36 35
  • 38 (a)
F44G3.2 36 35
  • 37 (a)
F46H5.3 35
  • 37 (a)
ManyToMany
F11G11.13 35
  • 32 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6164 35
  • 68 (a)
ManyToMany
-- 35
  • 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)

Paralogs for CKM Gene

Paralogs for CKM Gene

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

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

Variants for CKM Gene

Sequence variations from dbSNP and Humsavar for CKM Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000102560 -- 45,320,135(+) AGGTT(A/G)GAGTG intron-variant, upstream-variant-2KB
rs1000229767 -- 45,311,880(+) AGAGG(A/G)TAGTA reference, synonymous-codon
rs1000561040 -- 45,320,012(+) TCTTG(A/T)TCTCC intron-variant, upstream-variant-2KB
rs1000604221 -- 45,323,978(+) CCGCT(C/T)TCTCC upstream-variant-2KB
rs1000910743 -- 45,316,337(+) AAAAA(-/T)AAAAA 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)

Relevant External Links for CKM Gene

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

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

Disorders for CKM Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
borna disease
  • enzootic encephalomyelitis
prostate rhabdomyosarcoma
  • rhabdomyosarcoma of the prostate
dressler's syndrome
  • dressler syndrome
prostate sarcoma
  • sarcoma of the prostate
myotonic dystrophy
  • myotonic dystrophy 1
- elite association - COSMIC cancer census association via MalaCards
Search CKM in MalaCards View complete list of genes associated with diseases

Relevant External Links for CKM

Genetic Association Database (GAD)
CKM
Human Genome Epidemiology (HuGE) Navigator
CKM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CKM
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 D.Q. … Wen L. (Br J Sports Med 2006) 3 22 25 46 64
  2. Is there an association between ACE and CKMM polymorphisms and cycling performance status during 3-week races? (PMID: 16037885) LucA-a A. … Earnest C.P. (Int J Sports Med 2005) 3 22 46 64
  3. The caregene study: muscle-specific creatine kinase gene and aerobic power in coronary artery disease. (PMID: 16079652) Defoor J. … Vanhees L. (Eur J Cardiovasc Prev Rehabil 2005) 3 22 46 64
  4. [An A/G polymorphism in muscle-specific creatine kinase gene in Han population in Northern China]. (PMID: 16120572) Zhou D.Q. … Gong L. (Yi Chuan 2005) 3 22 46 64
  5. Crystallization and preliminary X-ray analysis of human muscle creatine kinase. (PMID: 10089465) Tang L. … Lin Z.J. (Acta Crystallogr. D 1999) 3 4 22 64

Products for CKM Gene

  • Addgene plasmids for CKM

Sources for CKM Gene

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