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Aliases for CKMT1A Gene

Aliases for CKMT1A Gene

  • Creatine Kinase, Mitochondrial 1A 2 3 5
  • Creatine Kinase, Mitochondrial 1 (Ubiquitous) 2 3
  • Acidic-Type Mitochondrial Creatine Kinase 3 4
  • Ubiquitous Mitochondrial Creatine Kinase 3 4
  • EC 2.7.3.2 4 58
  • Mia-CK 3 4
  • U-MtCK 3 4
  • Creatine Kinase U-Type, Mitochondrial 3
  • CKMT1A CKMT1B 4
  • EC 2.7.3 58
  • CKMT1 3
  • CKMT 4

External Ids for CKMT1A Gene

Previous HGNC Symbols for CKMT1A Gene

  • CKMT1

Previous GeneCards Identifiers for CKMT1A Gene

  • GC15P041773
  • GC15U900516
  • GC15P043886
  • GC15P020808
  • GC15P043985

Summaries for CKMT1A Gene

Entrez Gene Summary for CKMT1A Gene

  • 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]

GeneCards Summary for CKMT1A Gene

CKMT1A (Creatine Kinase, Mitochondrial 1A) is a Protein Coding gene. Diseases associated with CKMT1A include Prostate Rhabdomyosarcoma and Dressler's Syndrome. Among its related pathways are Metabolism and Arginine and proline metabolism. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and creatine kinase activity. An important paralog of this gene is CKMT1B.

UniProtKB/Swiss-Prot for CKMT1A 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.

Additional gene information for CKMT1A Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CKMT1A Gene

Genomics for CKMT1A Gene

Regulatory Elements for CKMT1A Gene

Enhancers for CKMT1A 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
GH15H043905 0.4 dbSUPER 15.4 +213.1 213103 1 NR2F6 CKMT1A CATSPER2 PIN4P1 GC15M043974
GH15H043688 0.2 Ensembl 0.7 -3.2 -3167 1 PPIP5K1P1 CKMT1A
GH15H043692 0.2 Ensembl 0.7 +0.9 915 2 CKMT1A GC15P043703
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CKMT1A on UCSC Golden Path with GeneCards custom track

Genomic Location for CKMT1A Gene

Chromosome:
15
Start:
43,692,886 bp from pter
End:
43,699,222 bp from pter
Size:
6,337 bases
Orientation:
Plus strand

Genomic View for CKMT1A Gene

Genes around CKMT1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CKMT1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CKMT1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CKMT1A Gene

Proteins for CKMT1A Gene

  • Protein details for CKMT1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12532-KCRU_HUMAN
    Recommended name:
    Creatine kinase U-type, mitochondrial
    Protein Accession:
    P12532
    Secondary Accessions:
    • B4DIT8
    • B7ZA09
    • Q0VAM3
    • Q32NF6
    • Q53FC4

    Protein attributes for CKMT1A Gene

    Size:
    417 amino acids
    Molecular mass:
    47037 Da
    Quaternary structure:
    • Exists as an octamer composed of four MTCK homodimers.
    • Exists as an octamer composed of four MTCK homodimers.
    Miscellaneous:
    • Mitochondrial creatine kinase binds cardiolipin.

    Three dimensional structures from OCA and Proteopedia for CKMT1A Gene

    Alternative splice isoforms for CKMT1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CKMT1A Gene

Selected DME Specific Peptides for CKMT1A Gene

P12532:
  • DNPGHPFI
  • RLQKRGTGGVDT
  • MKHTTDLDASKI
  • GRYYRLSEMTE
  • RAGVHIK
  • RVISMEK
  • LIDDHFLFDKPVSPLL
  • DARGIWHN
  • RAERREVE
  • NERLGYI
  • SEVELVQ
  • GMARDWPDARGIWHN
  • YPDLRKHNNCMA
  • GDLAGRYY
  • RHNGYDPR
  • VIDGVNYL
  • VAGDEETYEVF
  • YARLCDK
  • QQQLIDDHFLF
  • CPSNLGT
  • GNMKRVFERFC
  • MTEAEQQQLIDDHFLFDKPVSP
  • FADLFDP
  • AGDEETY
  • LTCPSNLGTGLR
  • TVGMVAGDEE
  • YVLSSRVRTGRSI
  • GQDIRIP
  • DISNLDR
  • ERGWEFMWNERLGY

Post-translational modifications for CKMT1A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for CKMT1A Gene

Gene Families for CKMT1A Gene

Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CKMT1A Gene

Graphical View of Domain Structure for InterPro Entry

P12532

UniProtKB/Swiss-Prot:

KCRU_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 CKMT1A: view

Function for CKMT1A Gene

Molecular function for CKMT1A Gene

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 CKMT1A Gene

Gene Ontology (GO) - Molecular Function for CKMT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004111 creatine kinase activity TAS --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with CKMT1A: view

Animal Model Products

CRISPR Products

miRNA for CKMT1A Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CKMT1A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CKMT1A Gene

Localization for CKMT1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CKMT1A Gene

Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side.

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 CKMT1A gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 3
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CKMT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 2914937
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with CKMT1A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CKMT1A Gene

Pathways & Interactions for CKMT1A Gene

genes like me logo Genes that share pathways with CKMT1A: view

Pathways by source for CKMT1A Gene

Gene Ontology (GO) - Biological Process for CKMT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006600 creatine metabolic process TAS --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with CKMT1A: view

No data available for SIGNOR curated interactions for CKMT1A Gene

Drugs & Compounds for CKMT1A Gene

(3) Drugs for CKMT1A Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphocreatine Approved Pharma 9
Creatine Nutra Target, ligand 136
ATP Nutra Agonist 0

(1) Additional Compounds for CKMT1A Gene - From: 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 CKMT1A: view

Transcripts for CKMT1A Gene

mRNA/cDNA for CKMT1A Gene

(9) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CKMT1A Gene

Creatine kinase, mitochondrial 1A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CKMT1A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CKMT1A Gene

No ASD Table

Relevant External Links for CKMT1A Gene

GeneLoc Exon Structure for
CKMT1A
ECgene alternative splicing isoforms for
CKMT1A

Expression for CKMT1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CKMT1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CKMT1A Gene

This gene is overexpressed in Brain - Cerebellum (x4.7), Brain - Cerebellar Hemisphere (x4.6), and Colon - Transverse (x4.3).

Protein differential expression in normal tissues from HIPED for CKMT1A Gene

This gene is overexpressed in Brain (14.2) and Frontal cortex (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CKMT1A Gene



Protein tissue co-expression partners for CKMT1A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CKMT1A Gene:

CKMT1A

SOURCE GeneReport for Unigene cluster for CKMT1A Gene:

Hs.654988

Evidence on tissue expression from TISSUES for CKMT1A Gene

  • Nervous system(4.5)
  • Lung(4.4)
  • Intestine(4.3)
  • Heart(2.9)
  • Muscle(2.3)
  • Blood(2)
genes like me logo Genes that share expression patterns with CKMT1A: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CKMT1A Gene

Orthologs for CKMT1A Gene

This gene was present in the common ancestor of animals.

Orthologs for CKMT1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 100 (a)
OneToMany
LOC100608872 33
  • 99.6 (n)
cow
(Bos Taurus)
Mammalia CKMT1 34
  • 98 (a)
OneToMany
CKMT1B 33
  • 92.96 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 98 (a)
OneToMany
CKMT1B 33
  • 94.16 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 94 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ckmt1 33 34
  • 92.17 (n)
rat
(Rattus norvegicus)
Mammalia Ckmt1b 33
  • 91.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 91 (a)
OneToMany
chicken
(Gallus gallus)
Aves CKMT1A 33 34
  • 77.38 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 88 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ckmt1b 33
  • 73.78 (n)
zebrafish
(Danio rerio)
Actinopterygii ckmt1 33 34
  • 72.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5144 34
  • 37 (a)
ManyToMany
CG4546 34
  • 29 (a)
ManyToMany
Argk 34
  • 27 (a)
ManyToMany
CG30274 34
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F46H5.3 34
  • 39 (a)
ManyToMany
F44G3.2 34
  • 38 (a)
ManyToMany
ZC434.8 34
  • 38 (a)
ManyToMany
W10C8.5 34
  • 37 (a)
ManyToMany
F11G11.13 34
  • 36 (a)
ManyToMany
F32B5.1 34
  • 34 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 66 (a)
ManyToMany
CSA.4059 34
  • 64 (a)
ManyToMany
-- 34
  • 23 (a)
ManyToMany
Species where no ortholog for CKMT1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 CKMT1A Gene

ENSEMBL:
Gene Tree for CKMT1A (if available)
TreeFam:
Gene Tree for CKMT1A (if available)

Paralogs for CKMT1A Gene

Paralogs for CKMT1A Gene

(4) SIMAP similar genes for CKMT1A Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CKMT1A: view

Variants for CKMT1A Gene

Sequence variations from dbSNP and Humsavar for CKMT1A Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1002632822 -- 43,693,064(+) ACACA(C/T)CTGAG upstream-variant-2KB, utr-variant-5-prime
rs1006029270 -- 43,696,469(+) TCTGA(C/T)GGTAA intron-variant
rs1006222105 -- 43,696,798(+) TATCA(C/T)TCTTG intron-variant
rs1009117140 -- 43,698,884(+) TGGGG(A/C)GGCAA intron-variant
rs1009917968 -- 43,696,952(+) GTATT(C/G)AAGTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CKMT1A Gene

Variant ID Type Subtype PubMed ID
dgv2583n100 CNV loss 25217958
dgv2584n100 CNV gain+loss 25217958
dgv2585n100 CNV loss 25217958
dgv2586n100 CNV loss 25217958
dgv45e203 CNV gain+loss 21179565
dgv732e212 CNV loss 25503493
dgv733e212 CNV gain 25503493
dgv734e212 CNV loss 25503493
dgv735e212 CNV loss 25503493
esv24113 CNV gain+loss 19812545
esv2421427 CNV deletion 20811451
esv2749626 CNV deletion 23290073
esv2760028 CNV gain+loss 17122850
esv33424 CNV loss 17666407
esv3413988 CNV duplication 20981092
esv3569520 CNV gain 25503493
esv3636296 CNV loss 21293372
esv3636297 CNV gain 21293372
esv3892683 CNV loss 25118596
nsv1039949 CNV gain 25217958
nsv1054620 CNV gain 25217958
nsv1514 CNV deletion 18451855
nsv428304 CNV loss 18775914
nsv437799 CNV loss 16327808
nsv9254 CNV gain+loss 18304495
nsv976928 CNV duplication 23825009

Variation tolerance for CKMT1A Gene

Gene Damage Index Score: 1.16; 23.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CKMT1A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CKMT1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CKMT1A Gene

Disorders for CKMT1A Gene

MalaCards: The human disease database

(2) MalaCards diseases for CKMT1A Gene - From: DISEASES

Disorder Aliases PubMed IDs
prostate rhabdomyosarcoma
  • rhabdomyosarcoma of the prostate
dressler's syndrome
  • dressler syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CKMT1A

Genetic Association Database (GAD)
CKMT1A
Human Genome Epidemiology (HuGE) Navigator
CKMT1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CKMT1A
genes like me logo Genes that share disorders with CKMT1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CKMT1A Gene

Publications for CKMT1A Gene

  1. Crystal structure of human ubiquitous mitochondrial creatine kinase. (PMID: 10737943) Eder M … Schlattner U (Proteins 2000) 3 4 22 60
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  3. ASB9 interacts with ubiquitous mitochondrial creatine kinase and inhibits mitochondrial function. (PMID: 20302626) Kwon S … Kwon HJ (BMC biology 2010) 3 22 60
  4. Ubiquitous mitochondrial creatine kinase is overexpressed in the conditioned medium and the extract of LNCaP lineaged androgen independent cell lines and facilitates prostate cancer progression. (PMID: 19415690) Pang B … Zhou JG (The Prostate 2009) 3 22 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for CKMT1A Gene

Sources for CKMT1A Gene

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