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Aliases for CKMT1B Gene

Aliases for CKMT1B Gene

  • Creatine Kinase, Mitochondrial 1B 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 61
  • Mia-CK 3 4
  • U-MtCK 3 4
  • CKMT 3 4
  • Creatine Kinase U-Type, Mitochondrial 3
  • CKMT1A CKMT1B 4
  • EC 2.7.3 61
  • CKMT1 3
  • UMTCK 3

External Ids for CKMT1B Gene

Previous HGNC Symbols for CKMT1B Gene

  • CKMT
  • CKMT1

Previous GeneCards Identifiers for CKMT1B Gene

  • GC15P041674
  • GC15P043885
  • GC15P020720

Summaries for CKMT1B Gene

Entrez Gene Summary for CKMT1B 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 CKMT1B Gene

CKMT1B (Creatine Kinase, Mitochondrial 1B) is a Protein Coding gene. Diseases associated with CKMT1B include Prostate Rhabdomyosarcoma and Dressler's Syndrome. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Viral mRNA Translation. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and creatine kinase activity. An important paralog of this gene is CKMT1A.

UniProtKB/Swiss-Prot for CKMT1B 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 CKMT1B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CKMT1B Gene

Genomics for CKMT1B Gene

Regulatory Elements for CKMT1B Gene

Enhancers for CKMT1B 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
GH15G043901 1 dbSUPER 5.3 +309.0 309023 1.7 SIN3A FEZF1 GLIS2 GATA2 KLF7 FOS MAFF GLIS1 WT1 PRDM4 CATSPER2 CKMT1B PIN4P1 GC15M043974
GH15G043592 0.4 Ensembl 0.7 +1.0 1039 2.2 POLR2A CKMT1B RNU6-554P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CKMT1B on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CKMT1B gene promoter:

Genomic Location for CKMT1B Gene

Chromosome:
15
Start:
43,592,862 bp from pter
End:
43,604,901 bp from pter
Size:
12,040 bases
Orientation:
Plus strand

Genomic View for CKMT1B Gene

Genes around CKMT1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CKMT1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CKMT1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CKMT1B Gene

Proteins for CKMT1B Gene

  • Protein details for CKMT1B 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 CKMT1B 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 CKMT1B Gene

    Alternative splice isoforms for CKMT1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CKMT1B Gene

Selected DME Specific Peptides for CKMT1B 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 CKMT1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for CKMT1B

Domains & Families for CKMT1B 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 CKMT1B: view

No data available for Gene Families for CKMT1B Gene

Function for CKMT1B Gene

Molecular function for CKMT1B 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 CKMT1B Gene

Gene Ontology (GO) - Molecular Function for CKMT1B 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 CKMT1B: view
genes like me logo Genes that share phenotypes with CKMT1B: view

Animal Models for CKMT1B Gene

MGI Knock Outs for CKMT1B:

Animal Model Products

CRISPR Products

miRNA for CKMT1B Gene

miRTarBase miRNAs that target CKMT1B

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CKMT1B Gene

Localization for CKMT1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for CKMT1B 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 CKMT1B gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 2
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CKMT1B 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 CKMT1B: view

Pathways & Interactions for CKMT1B Gene

genes like me logo Genes that share pathways with CKMT1B: view

Pathways by source for CKMT1B Gene

Gene Ontology (GO) - Biological Process for CKMT1B 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 CKMT1B: view

No data available for SIGNOR curated interactions for CKMT1B Gene

Drugs & Compounds for CKMT1B Gene

(3) Drugs for CKMT1B Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for CKMT1B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CKMT1B: view

Transcripts for CKMT1B Gene

Unigene Clusters for CKMT1B Gene

Creatine kinase, mitochondrial 1B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CKMT1B Gene

No ASD Table

Relevant External Links for CKMT1B Gene

GeneLoc Exon Structure for
CKMT1B
ECgene alternative splicing isoforms for
CKMT1B

Expression for CKMT1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CKMT1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CKMT1B Gene

This gene is overexpressed in Brain - Cerebellum (x12.6) and Brain - Cerebellar Hemisphere (x11.5).

Protein differential expression in normal tissues from HIPED for CKMT1B 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 CKMT1B Gene



Protein tissue co-expression partners for CKMT1B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CKMT1B Gene:

CKMT1B

SOURCE GeneReport for Unigene cluster for CKMT1B Gene:

Hs.741420

Evidence on tissue expression from TISSUES for CKMT1B Gene

  • Nervous system(5)
  • Intestine(4.8)
  • Lung(4.5)
  • Heart(2.9)
  • Stomach(2.6)
  • Muscle(2.3)
  • Blood(2)
genes like me logo Genes that share expression patterns with CKMT1B: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CKMT1B Gene

Orthologs for CKMT1B Gene

This gene was present in the common ancestor of animals.

Orthologs for CKMT1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 35
  • 100 (a)
OneToMany
LOC100608872 34
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia CKMT1 35
  • 98 (a)
OneToMany
CKMT1B 34
  • 92.96 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 98 (a)
OneToMany
CKMT1B 34
  • 94.16 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 94 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ckmt1 34 16 35
  • 92.01 (n)
rat
(Rattus norvegicus)
Mammalia Ckmt1b 34
  • 91.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 91 (a)
OneToMany
chicken
(Gallus gallus)
Aves CKMT1A 34 35
  • 77.22 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 88 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ckmt1b 34
  • 73.78 (n)
MGC76150 34
African clawed frog
(Xenopus laevis)
Amphibia ckmt1-prov 34
zebrafish
(Danio rerio)
Actinopterygii ckmt1 34 35
  • 72.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5144 35
  • 37 (a)
ManyToMany
CG4546 35
  • 29 (a)
ManyToMany
Argk 35
  • 27 (a)
ManyToMany
CG30274 35
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F46H5.3 35
  • 39 (a)
ManyToMany
F44G3.2 35
  • 38 (a)
ManyToMany
ZC434.8 35
  • 38 (a)
ManyToMany
W10C8.5 35
  • 37 (a)
ManyToMany
F11G11.13 35
  • 36 (a)
ManyToMany
F32B5.1 35
  • 34 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 66 (a)
ManyToMany
CSA.4059 35
  • 64 (a)
ManyToMany
-- 35
  • 23 (a)
ManyToMany
Species where no ortholog for CKMT1B 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 CKMT1B Gene

ENSEMBL:
Gene Tree for CKMT1B (if available)
TreeFam:
Gene Tree for CKMT1B (if available)

Paralogs for CKMT1B Gene

Paralogs for CKMT1B Gene

genes like me logo Genes that share paralogs with CKMT1B: view

Variants for CKMT1B Gene

Sequence variations from dbSNP and Humsavar for CKMT1B Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000758407 -- 43,598,631(+) GAAGT(C/T)GAGGC intron-variant
rs1004284885 -- 43,597,752(+) AACAG(A/G)ATGTT intron-variant, nc-transcript-variant
rs1004320639 -- 43,597,617(+) TCTAA(G/T)AGTCA intron-variant, nc-transcript-variant
rs1005292373 -- 43,593,056(+) ACCCT(G/T)CACCT nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1005326355 -- 43,591,346(+) TACAA(C/G)AAATG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CKMT1B Gene

Variant ID Type Subtype PubMed ID
dgv2583n100 CNV loss 25217958
dgv4501n54 CNV loss 21841781
dgv45e203 CNV gain+loss 21179565
dgv732e212 CNV loss 25503493
dgv733e212 CNV gain 25503493
esv24113 CNV gain+loss 19812545
esv2421427 CNV deletion 20811451
esv2749626 CNV deletion 23290073
esv2760028 CNV gain+loss 17122850
esv33424 CNV loss 17666407
esv3569487 CNV gain 25503493
esv3569520 CNV gain 25503493
esv3581654 CNV loss 25503493
esv3636291 CNV loss 21293372
esv3636292 CNV gain 21293372
esv3892682 CNV loss 25118596
nsv1039949 CNV gain 25217958
nsv1070270 CNV deletion 25765185
nsv1160289 CNV deletion 26073780
nsv1160290 CNV duplication 26073780
nsv1514 CNV deletion 18451855
nsv428304 CNV loss 18775914
nsv437799 CNV loss 16327808
nsv509569 CNV insertion 20534489
nsv524910 CNV loss 19592680
nsv569243 CNV gain 21841781
nsv569244 CNV gain+loss 21841781
nsv832988 CNV loss 17160897
nsv9249 CNV gain+loss 18304495
nsv974568 CNV duplication 23825009

Variation tolerance for CKMT1B Gene

Gene Damage Index Score: 2.18; 39.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CKMT1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CKMT1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CKMT1B Gene

Disorders for CKMT1B Gene

MalaCards: The human disease database

(2) MalaCards diseases for CKMT1B Gene - From: DISEASES and GeneCards

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 CKMT1B

Genetic Association Database (GAD)
CKMT1B
Human Genome Epidemiology (HuGE) Navigator
CKMT1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CKMT1B
genes like me logo Genes that share disorders with CKMT1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CKMT1B Gene

Publications for CKMT1B Gene

  1. Crystal structure of human ubiquitous mitochondrial creatine kinase. (PMID: 10737943) Eder M. … Schlattner U. (Proteins 2000) 3 4 22 64
  2. ASB9 interacts with ubiquitous mitochondrial creatine kinase and inhibits mitochondrial function. (PMID: 20302626) Kwon S. … Kwon H.J. (BMC Biol. 2010) 3 22 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for CKMT1B Gene

Sources for CKMT1B Gene

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