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CKMT1A (creatine kinase, mitochondrial 1A)

Identity

Alias_namesCKMT1
creatine kinase
HGNC (Hugo) CKMT1A
LocusID (NCBI) 548596
Atlas_Id 51001
Location 15q15.3  [Link to chromosome band 15q15]
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
AliasesCKMT1; U-MtCK; mia-CK
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
Genetics Home Reference (NIH)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 NM_001321926 NM_001321927 NM_001321928 NM_001321929
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 GalleryENSG00000223572
Gene ExpressionCKMT1A [ NCBI-GEO ]   CKMT1A [ EBI - ARRAY_EXPRESS ]   CKMT1A [ SEEK ]   CKMT1A [ MEM ]
Gene Expression Viewer (FireBrowse)CKMT1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)548596
GTEX Portal (Tissue expression)CKMT1A
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12532   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP12532  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12532
Splice isoforms : SwissVarP12532
Catalytic activity : Enzyme2.7.3.2 [ Enzyme-Expasy ]   2.7.3.22.7.3.2 [ IntEnz-EBI ]   2.7.3.2 [ BRENDA ]   2.7.3.2 [ KEGG ]   
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   
Conserved Domain (NCBI)CKMT1A
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   
SuperfamilyP12532
Human Protein AtlasENSG00000223572
Peptide AtlasP12532
HPRD18683
Protein Interaction databases
DIP (DOE-UCLA)P12532
IntAct (EBI)P12532
FunCoupENSG00000223572
BioGRIDCKMT1A
STRING (EMBL)CKMT1A
ZODIACCKMT1A
Ontologies - Pathways
QuickGOP12532
Ontology : AmiGOcreatine kinase activity  ATP binding  mitochondrion  mitochondrial inner membrane  creatine metabolic process  phosphorylation  extracellular exosome  
Ontology : EGO-EBIcreatine kinase activity  ATP binding  mitochondrion  mitochondrial inner membrane  creatine metabolic process  phosphorylation  extracellular exosome  
Pathways : KEGGArginine and proline metabolism   
NDEx NetworkCKMT1A
Atlas of Cancer Signalling NetworkCKMT1A
Wikipedia pathwaysCKMT1A
Orthology - Evolution
OrthoDB548596
GeneTree (enSembl)ENSG00000223572
Phylogenetic Trees/Animal Genes : TreeFamCKMT1A
HOVERGENP12532
HOGENOMP12532
Homologs : HomoloGeneCKMT1A
Homology/Alignments : Family Browser (UCSC)CKMT1A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCKMT1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CKMT1A
dbVarCKMT1A
ClinVarCKMT1A
1000_GenomesCKMT1A 
Exome Variant ServerCKMT1A
ExAC (Exome Aggregation Consortium)CKMT1A (select the gene name)
Genetic variants : HAPMAP548596
Genomic Variants (DGV)CKMT1A [DGVbeta]
DECIPHER (Syndromes)15:43985084-43991420  ENSG00000223572
CONAN: Copy Number AnalysisCKMT1A 
Mutations
ICGC Data PortalCKMT1A 
TCGA Data PortalCKMT1A 
Broad Tumor PortalCKMT1A
OASIS PortalCKMT1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCKMT1A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCKMT1A
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)
intoGenCKMT1A
Cancer3DCKMT1A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613415   
Orphanet
MedgenCKMT1A
Genetic Testing Registry CKMT1A
NextProtP12532 [Medical]
TSGene548596
GENETestsCKMT1A
Huge Navigator CKMT1A [HugePedia]
snp3D : Map Gene to Disease548596
BioCentury BCIQCKMT1A
ClinGenCKMT1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD548596
Chemical/Pharm GKB GenePA142672108
Clinical trialCKMT1A
Miscellaneous
canSAR (ICR)CKMT1A (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCKMT1A
EVEXCKMT1A
GoPubMedCKMT1A
iHOPCKMT1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:34:05 CET 2016

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