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CKMT1B Gene

protein-coding   GIFtS: 56
GCID: GC15P043885

Creatine Kinase, Mitochondrial 1B

(Previous names: creatine kinase, mitochondrial 1 (ubiquitous))
(Previous symbols: CKMT, CKMT1)
  See CKMT1B-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Creatine Kinase, Mitochondrial 1B1 2     EC 2.7.3.23 8
CKMT1 2 3     UMTCK2
CKMT11 2 5     Creatine Kinase U-Type, Mitochondrial2
Creatine Kinase, Mitochondrial 1 (Ubiquitous)1 2     mia-CK2
Acidic-Type Mitochondrial Creatine Kinase2 3     Mia-CK3
Ubiquitous Mitochondrial Creatine Kinase2 3     EC 2.7.38
U-MtCK2 3     

External Ids:    HGNC: 19951   Entrez Gene: 11592   Ensembl: ENSG000002372897   OMIM: 1232905   UniProtKB: P125323   
ORGUL members:         

Export aliases for CKMT1B gene to outside databases

Previous GC identifers: GC15P041674 GC15P020720


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. An important paralog of this gene is CKB.

UniProtKB/Swiss-Prot: KCRU_HUMAN, P12532
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

Gene Wiki entry for CKMT1B Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the CKMT1B gene promoter:
         AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): CKMT1B promoter sequence
   Search Chromatin IP Primers for CKMT1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CKMT1B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q15   Ensembl cytogenetic band:  15q15.3   HGNC cytogenetic band: 15q15

CKMT1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CKMT1B gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P043885:  view genomic region     (about GC identifiers)

Start:
43,885,252 bp from pter      End:
43,897,099 bp from pter
Size:
11,848 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KCRU_HUMAN, P12532 (See protein sequence)
Recommended Name: Creatine kinase U-type, mitochondrial precursor  
Size: 417 amino acids; 47037 Da
Subunit: Exists as an octamer composed of four MTCK homodimers
Miscellaneous: Mitochondrial creatine kinase binds cardiolipin
1 PDB 3D structure from and Proteopedia for CKMT1B:
1QK1 (3D)    
Secondary accessions: B4DIT8 B7ZA09 Q0VAM3 Q32NF6 Q53FC4
Alternative splicing: 2 isoforms:  P12532-1   P12532-2   

Explore the universe of human proteins at neXtProt for CKMT1B: NX_P12532

Explore proteomics data for CKMT1B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CKMT1B (P12532) (see all 30)
     CPSNLGT  YARLCDK  AGDEETY  FADLFDP 


    See CKMT1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_066270.1  
    ENSEMBL proteins: 
     ENSP00000413999   ENSP00000391990   ENSP00000416467   ENSP00000396707   ENSP00000413255  
     ENSP00000411531   ENSP00000416717   ENSP00000399467   ENSP00000300283   ENSP00000389267  
     ENSP00000390428  
    Reactome Protein details: P12532

    CKMT1B Human Recombinant Protein Products:

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    Cloud-Clone Corp. ELISAs for CKMT1B
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    Search eBioscience for ELISAs for CKMT1B 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR014746 Gln_synth/guanido_kin_cat_dom
     IPR022413 ATP-guanido_PTrfase_N
     IPR022415 ATP-guanido_PTrfase_AS
     IPR022414 ATP-guanido_PTrfase_cat

    Graphical View of Domain Structure for InterPro Entry P12532

    ProtoNet protein and cluster: P12532

    1 Blocks protein domain: IPB000749 ATP:guanido phosphotransferase

    UniProtKB/Swiss-Prot: KCRU_HUMAN, P12532
    Similarity: Belongs to the ATP:guanido phosphotransferase family
    Similarity: Contains 1 phosphagen kinase C-terminal domain
    Similarity: Contains 1 phosphagen kinase N-terminal domain


    Find genes that share domains with CKMT1B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCRU_HUMAN, P12532
    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

         Enzyme Numbers (IUBMB): EC 2.7.3.21 2 EC 2.7.32

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004111creatine kinase activity ----
    GO:0005524ATP binding ----
    GO:0016301kinase activity ----
    GO:0016772transferase activity, transferring phosphorus-containing groups ----
         
    Find genes that share ontologies with CKMT1B           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ckmt1):
     behavior/neurological  digestive/alimentary  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism 
     integument  nervous system  reproductive system 

    Find genes that share phenotypes with CKMT1B           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ckmt1tm2Bew for CKMT1B

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CKMT1B
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CKMT1B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CKMT1B

    miRNA
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    miRTarBase miRNAs that target CKMT1B:
    hsa-mir-92a-3p (MIRT049393)

    Block miRNA regulation of human, mouse, rat CKMT1B using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate CKMT1B:
    hsa-miR-924 hsa-miR-4294
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CKMT1B

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CKMT1B


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KCRU_HUMAN, P12532: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    extracellular1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane ----

    Find genes that share ontologies with CKMT1B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CKMT1B About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Creatine metabolism0.00
    creatine-phosphate biosynthesis0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Arginine and proline metabolism
    Arginine and proline metabolism


    Find genes that share SuperPaths with CKMT1B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CKMT1B
        creatine-phosphate biosynthesis

    1 Reactome Pathway for CKMT1B
        Creatine metabolism


    2 Kegg Pathways  (Kegg details for CKMT1B):
        Arginine and proline metabolism
    Metabolic pathways

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CKMT1B
    Interactions:

        Search GeneGlobe Interaction Network for CKMT1B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CKMT1B (P125322, 3 ENSP000003002834) via UniProtKB, MINT, STRING, and/or I2D (see all 80)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    SLC25A5P051412, 3, ENSP000003606714MINT-4054731 I2D: score=1 STRING: ENSP00000360671
    VDAC1P217962, 3, ENSP000002653334MINT-4054731 I2D: score=2 STRING: ENSP00000265333
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006600creatine metabolic process ----
    GO:0034641cellular nitrogen compound metabolic process ----
    GO:0044281small molecule metabolic process ----

    Find genes that share ontologies with CKMT1B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CKMT1B (KCRU)

    5 Novoseek inferred chemical compound relationships for CKMT1B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cyclocreatine 87.9 1 11745437 (1)
    cardiolipin 70.7 1 11768757 (1)
    creatinine 68.3 51 11874479 (3), 11745437 (2), 16479256 (2), 20302626 (2) (see all 19)
    phosphocreatine 59.7 13 8923416 (3), 12701812 (2)
    atp 30.1 4 11154064 (1), 12701812 (1)



    Find genes that share compounds with CKMT1B           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CKMT1B gene: 
    NM_020990.3  

    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000453782 ENST00000437924 ENST00000475589 ENST00000481666 ENST00000449946
    ENST00000417289 ENST00000441322 ENST00000495545 ENST00000498538 ENST00000453733
    ENST00000437534(uc010udv.1 uc010bdj.3 uc010udy.1) ENST00000428981
    ENST00000411560 ENST00000300283(uc001zsc.3 uc010uds.2) ENST00000450086(uc010udw.1)
    ENST00000413657(uc010udt.2 uc010bdi.3 uc010udu.2 uc010udx.2)

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    hsa-miR-924 hsa-miR-4294
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat CKMT1B
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    Selected AceView cDNA sequences (see all 346):

    BF593757 BE251418 CR599511 BM849357 BX642316 BE873170 BI820667 BP362822 
    BT006628 AA324707 AA084108 BE794868 BE794273 AL553972 BM820557 CA488871 
    BM743640 BU728214 AW905169 BE795609 BM820010 CR592857 BQ061098 BE794334 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CKMT1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CKMT1B Expression
    About this image


    CKMT1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
     
     Hair (Integumentary System)
             Bulge Stem Cells Bulge
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
    CKMT1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CKMT1B Protein Expression
        Custom PCR Arrays for CKMT1B
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CKMT1B gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ckmt11 , 5 creatine kinase, mitochondrial 1, ubiquitous1, 5 92.01(n)1
    96.88(a)1
      2 (60.37 cM)5
    127161  NM_009897.21  NP_034027.11 
     1213577145 
    chicken
    (Gallus gallus)
    Aves CKMT1A1 creatine kinase, mitochondrial 1A 77.22(n)
    88.49(a)
      374002  NM_204182.1  NP_989513.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    88(a)
    1 → many
    GL343759.1(238609-245328)
    African clawed frog
    (Xenopus laevis)
    Amphibia ckmt1-prov2 creatine kinase, mitochondrial 1 (ubiquitous) 77.56(n)    BC045123.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ckmt12 creatine kinase, mitochondrial 1 77.87(n)   321892  BC048050.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG51446
    CG45466
    (see all 4)
    --
    37(a)
    29(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    3L(9040539-9041824)
    3R(11672230-11674158)
    worm
    (Caenorhabditis elegans)
    Secernentea F46H5.36
    F44G3.26
    (see all 6)
    Protein F44G3.2 (F44G3.2) mRNA, complete cds
    (see all 6)
    39(a)
    38(a)
    (see all 6)
    many ↔ many
    many ↔ many
    (see all 6)
    X(7230330-7238662) WBGene00018519
    V(16103894-16106140) WBGene00009706


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CKMT1B gene
    CKMT1A1 2  CKB2  CKM2  CKMT22  
    4 SIMAP similar genes for CKMT1B using alignment to 10 protein entries:     KCRU_HUMAN (see all proteins):
    CKMT1A    CKB    CKM    CKMT2

    Find genes that share paralogs with CKMT1B           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CKMT1B (see all 149)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3758087131,2
    C--20805983(+) CAATCC/TCAGTA 1 -- us2k10--------
    rs2000996911,2
    C--20806005(+) CGAGGC/TGGGCA 1 -- us2k10--------
    rs1512620461,2
    C--20806006(+) GAGGCA/GGGCAG 1 -- us2k10--------
    rs2008990121,2
    C--20806014(+) CAGATC/TGCTGG 1 -- us2k10--------
    rs2008718881,2
    C--20806268(+) CTTAA-/GGTACT 1 -- us2k10--------
    rs24674221,2
    O--20806851(+) CACAAC/GGGATA 1 -- us2k10--------
    rs38094761,2
    C--20807496(-) AGAGTA/TGAAAT 1 -- us2k10--------
    rs38094751,2
    C--20807509(-) GAGAAG/TGAATG 1 -- us2k10--------
    rs38094741,2
    C,F--20807645(-) GAGGTG/CGTCAG 1 -- us2k12Minor allele frequency- C:0.50NA 4
    rs38094731,2
    C--20807664(-) GAGTGG/ATGTAC 1 -- us2k12Minor allele frequency- A:0.00NA 4

    HapMap Linkage Disequilibrium report for CKMT1B (43885252 - 43897099 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CKMT1B (see all 21):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749626CNV Deletion23290073
    esv2421427CNV Deletion20811451
    nsv509569CNV Insertion20534489
    nsv1514CNV Loss18451855
    dgv2374n71CNV Loss21882294
    dgv2373n71CNV Loss21882294
    nsv428304CNV Loss18775914
    esv33424CNV Loss17666407
    nsv437799CNV Loss16327808
    nsv524910CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CKMT1B
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 123290    OMIM disorders: --

    1 disease for CKMT1B:    
    About MalaCards
    prostate rhabdomyosarcoma

    2 diseases from the University of Copenhagen DISEASES database for CKMT1B:
    Myocardial infarction     Prostate rhabdomyosarcoma

    Find genes that share disorders with CKMT1B           About GenesLikeMe

    Genetic Association Database (GAD): CKMT1B
    Human Genome Epidemiology (HuGE) Navigator: CKMT1B (1 document)

    Export disorders for CKMT1B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for CKMT1B gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with CKMT1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Crystal structure of human ubiquitous mitochondrial creatine kinase. (PubMed id 10737943)1, 2, 9 Eder M.... Schlattner U. (Proteins 2000)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Isolation and characterization of the gene and cDNA encoding human mitochondrial creatine kinase. (PubMed id 2914937)1, 2 Haas R.C....Strauss A.W. (J. Biol. Chem. 1989)
    6. Regulation of creatine kinase isoenzymes in human placenta during early, mid-, and late gestation. (PubMed id 8923416)1, 9 Thomure M.F....Payne R.M. (J. Soc. Gynecol. Investig. 1996)
    7. A quantitative approach to membrane binding of human ubiquitous mitochondrial creatine kinase using surface plasmon resonance. (PubMed id 11768757)1, 9 Schlattner U. and Wallimann T. (J. Bioenerg. Biomembr. 2000)
    8. ASB9 interacts with ubiquitous mitochondrial creatine kinase and inhibits mitochondrial function. (PubMed id 20302626)1, 9 Kwon S....Kwon H.J. (BMC Biol. 2010)
    9. Creatine kinase and creatine transporter in normal, wounded, and diseased skin. (PubMed id 11874479)1, 9 Schlattner U....Wallimann T. (J. Invest. Dermatol. 2002)
    10. Expression of the mitochondrial creatine kinase genes. (PubMed id 7808456)1, 9 Payne R.M. and Strauss A.W. (Mol. Cell. Biochem. 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 1159 HGNC: 1995 AceView: CKMT1 Ensembl:ENSG00000237289 euGenes: HUgn1159
    ECgene: CKMT1B Kegg: 1159 H-InvDB: CKMT1B

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CKMT1B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CKMT1B Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for CKMT1B gene:
    Search GeneIP for patents involving CKMT1B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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