Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CKMT1A (creatine kinase, mitochondrial 1A)

Identity

Other namesCKMT1
HGNC (Hugo) CKMT1A
LocusID (NCBI) 548596
Atlas_Id 51001
Location 15q15.3
Location_base_pair Starts at 43985084 and ends at 43991420 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CKMT1A   31736
Cards
Entrez_Gene (NCBI)CKMT1A  548596  creatine kinase, mitochondrial 1A
GeneCards (Weizmann)CKMT1A
Ensembl hg19 (Hinxton)ENSG00000223572 [Gene_View]  chr15:43985084-43991420 [Contig_View]  CKMT1A [Vega]
Ensembl hg38 (Hinxton)ENSG00000223572 [Gene_View]  chr15:43985084-43991420 [Contig_View]  CKMT1A [Vega]
ICGC DataPortalENSG00000223572
TCGA cBioPortalCKMT1A
AceView (NCBI)CKMT1A
Genatlas (Paris)CKMT1A
WikiGenes548596
SOURCE (Princeton)CKMT1A
Genomic and cartography
GoldenPath hg19 (UCSC)CKMT1A  -     chr15:43985084-43991420 +  15q15.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CKMT1A  -     15q15.3   [Description]    (hg38-Dec_2013)
EnsemblCKMT1A - 15q15.3 [CytoView hg19]  CKMT1A - 15q15.3 [CytoView hg38]
Mapping of homologs : NCBICKMT1A [Mapview hg19]  CKMT1A [Mapview hg38]
OMIM613415   
Gene and transcription
Genbank (Entrez)AK223365 AK295776 AK316052 AK316124 AK316319
RefSeq transcript (Entrez)NM_001015001
RefSeq genomic (Entrez)NC_000015 NC_018926 NT_010194 NW_004929398
Consensus coding sequences : CCDS (NCBI)CKMT1A
Cluster EST : UnigeneHs.741420 [ NCBI ]
CGAP (NCI)Hs.741420
Alternative Splicing : Fast-db (Paris)GSHG0033849
Alternative Splicing GalleryENSG00000223572
Gene ExpressionCKMT1A [ NCBI-GEO ]     CKMT1A [ SEEK ]   CKMT1A [ MEM ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)548596
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12532 (Uniprot)
NextProtP12532  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12532
Splice isoforms : SwissVarP12532 (Swissvar)
Catalytic activity : Enzyme2.7.3.2 [ Enzyme-Expasy ]   2.7.3.2 [ Enzyme-SRS ]   2.7.3.2 [ IntEnz-EBI ]   2.7.3.2 [ PRIAM ]   2.7.3.2 [ BRENDA ]   2.7.3.2 [ KEGG ]   2.7.3.2 [ IUBMB ]
PhosPhoSitePlusP12532
Domaine pattern : Prosite (Expaxy)PHOSPHAGEN_KINASE (PS00112)    PHOSPHAGEN_KINASE_C (PS51510)    PHOSPHAGEN_KINASE_N (PS51509)   
Domains : Interpro (EBI)ATP-guanido_PTrfase    ATP-guanido_PTrfase_AS    ATP-guanido_PTrfase_cat    ATP-guanido_PTrfase_N    Gln_synth/guanido_kin_cat_dom   
Domain families : Pfam (Sanger)ATP-gua_Ptrans (PF00217)    ATP-gua_PtransN (PF02807)   
Domain families : Pfam (NCBI)pfam00217    pfam02807   
DMDM Disease mutations548596
Blocks (Seattle)CKMT1A
PDB (SRS)1QK1   
PDB (PDBSum)1QK1   
PDB (IMB)1QK1   
PDB (RSDB)1QK1   
Structural Biology KnowledgeBase1QK1   
SCOP (Structural Classification of Proteins)1QK1   
CATH (Classification of proteins structures)1QK1   
Human Protein AtlasENSG00000223572
Peptide AtlasP12532
HPRD18683
Protein Interaction databases
DIP (DOE-UCLA)P12532
IntAct (EBI)P12532
FunCoupENSG00000223572
BioGRIDCKMT1A
IntegromeDBCKMT1A
STRING (EMBL)CKMT1A
ZODIACCKMT1A
Ontologies - Pathways
QuickGOP12532
Ontology : AmiGOcreatine kinase activity  ATP binding  mitochondrion  mitochondrial inner membrane  polyamine metabolic process  creatine metabolic process  phosphorylation  cellular nitrogen compound metabolic process  small molecule metabolic process  extracellular exosome  
Ontology : EGO-EBIcreatine kinase activity  ATP binding  mitochondrion  mitochondrial inner membrane  polyamine metabolic process  creatine metabolic process  phosphorylation  cellular nitrogen compound metabolic process  small molecule metabolic process  extracellular exosome  
Pathways : KEGGArginine and proline metabolism   
Protein Interaction DatabaseCKMT1A
Atlas of Cancer Signalling NetworkCKMT1A
Wikipedia pathwaysCKMT1A
Orthology - Evolution
OrthoDB548596
GeneTree (enSembl)ENSG00000223572
Phylogenetic Trees/Animal Genes : TreeFamCKMT1A
Homologs : HomoloGeneCKMT1A
Homology/Alignments : Family Browser (UCSC)CKMT1A
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCKMT1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CKMT1A
dbVarCKMT1A
ClinVarCKMT1A
1000_GenomesCKMT1A 
Exome Variant ServerCKMT1A
Exome Aggregation Consortium (ExAC)ENSG00000223572
SNP (GeneSNP Utah)CKMT1A
SNP : HGBaseCKMT1A
Genetic variants : HAPMAPCKMT1A
Genomic Variants (DGV)CKMT1A [DGVbeta]
Mutations
ICGC Data PortalCKMT1A 
TCGA Data PortalCKMT1A 
Tumor PortalCKMT1A
TCGA Copy Number PortalCKMT1A
Somatic Mutations in Cancer : COSMICCKMT1A 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CKMT1A
DgiDB (Drug Gene Interaction Database)CKMT1A
DoCM (Curated mutations)CKMT1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CKMT1A (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)15:43985084-43991420
CONAN: Copy Number AnalysisCKMT1A 
Mutations and Diseases : HGMDCKMT1A
OMIM613415   
MedgenCKMT1A
NextProtP12532 [Medical]
TSGene548596
GENETestsCKMT1A
Huge Navigator CKMT1A [HugePedia]  CKMT1A [HugeCancerGEM]
snp3D : Map Gene to Disease548596
BioCentury BCIQCKMT1A
General knowledge
Chemical/Protein Interactions : CTD548596
Chemical/Pharm GKB GenePA142672108
Clinical trialCKMT1A
Other databases
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCKMT1A
GoPubMedCKMT1A
iHOPCKMT1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jan 16 18:21:27 CET 2016

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