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CKMT1A (creatine kinase, mitochondrial 1A)

Identity

Other namesCKMT1
HGNC (Hugo) CKMT1A
LocusID (NCBI) 548596
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

External links

Nomenclature
HGNC (Hugo)CKMT1A   31736
Cards
Entrez_Gene (NCBI)CKMT1A  548596  creatine kinase, mitochondrial 1A
GeneCards (Weizmann)CKMT1A
Ensembl (Hinxton)ENSG00000223572 [Gene_View]  chr15:43985084-43991420 [Contig_View]  CKMT1A [Vega]
ICGC DataPortalENSG00000223572
cBioPortalCKMT1A
AceView (NCBI)CKMT1A
Genatlas (Paris)CKMT1A
WikiGenes548596
SOURCE (Princeton)NM_001015001
Genomic and cartography
GoldenPath (UCSC)CKMT1A  -  15q15.3   chr15:43985084-43991420 +  15q15.3   [Description]    (hg19-Feb_2009)
EnsemblCKMT1A - 15q15.3 [CytoView]
Mapping of homologs : NCBICKMT1A [Mapview]
OMIM613415   
Gene and transcription
Genbank (Entrez)AK223365 AK295776 AK316052 AK316124 AK316319
RefSeq transcript (Entrez)NM_001015001
RefSeq genomic (Entrez)AC_000147 NC_000015 NC_018926 NT_010194 NW_001838215 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 ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12532 (Uniprot)
NextProtP12532  [Medical]
With graphics : InterProP12532
Splice isoforms : SwissVarP12532 (Swissvar)
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 ]   
Domaine pattern : Prosite (Expaxy)PHOSPHAGEN_KINASE (PS00112)    PHOSPHAGEN_KINASE_C (PS51510)    PHOSPHAGEN_KINASE_N (PS51509)   
Domains : Interpro (EBI)ATP-guanido_PTrfase_AS [organisation]   ATP-guanido_PTrfase_cat [organisation]   ATP-guanido_PTrfase_N [organisation]   Gln_synth/guanido_kin_cat_dom [organisation]  
Related proteins : CluSTrP12532
Domain families : Pfam (Sanger)ATP-gua_Ptrans (PF00217)    ATP-gua_PtransN (PF02807)   
Domain families : Pfam (NCBI)pfam00217    pfam02807   
DMDM Disease mutations548596
Blocks (Seattle)P12532
PDB (SRS)1QK1   
PDB (PDBSum)1QK1   
PDB (IMB)1QK1   
PDB (RSDB)1QK1   
Human Protein AtlasENSG00000223572 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP12532
HPRD18683
Protein Interaction databases
DIP (DOE-UCLA)P12532
IntAct (EBI)P12532
FunCoupENSG00000223572
BioGRIDCKMT1A
InParanoidP12532
Interologous Interaction database P12532
IntegromeDBCKMT1A
STRING (EMBL)CKMT1A
Ontologies - Pathways
Ontology : AmiGOcreatine kinase activity  ATP binding  mitochondrion  mitochondrial inner membrane  creatine metabolic process  cellular nitrogen compound metabolic process  small molecule metabolic process  
Ontology : EGO-EBIcreatine kinase activity  ATP binding  mitochondrion  mitochondrial inner membrane  creatine metabolic process  cellular nitrogen compound metabolic process  small molecule metabolic process  
Pathways : KEGGArginine and proline metabolism   
Protein Interaction DatabaseCKMT1A
Wikipedia pathwaysCKMT1A
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CKMT1A
snp3D : Map Gene to Disease548596
SNP (GeneSNP Utah)CKMT1A
SNP : HGBaseCKMT1A
Genetic variants : HAPMAPCKMT1A
Exome VariantCKMT1A
1000_GenomesCKMT1A 
ICGC programENSG00000223572 
Somatic Mutations in Cancer : COSMICCKMT1A 
CONAN: Copy Number AnalysisCKMT1A 
Mutations and Diseases : HGMDCKMT1A
Genomic VariantsCKMT1A  CKMT1A [DGVbeta]
dbVarCKMT1A
ClinVarCKMT1A
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM613415   
MedgenCKMT1A
GENETestsCKMT1A
Disease Genetic AssociationCKMT1A
Huge Navigator CKMT1A [HugePedia]  CKMT1A [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneCKMT1A
Homology/Alignments : Family Browser (UCSC)CKMT1A
Phylogenetic Trees/Animal Genes : TreeFamCKMT1A
Chemical/Protein Interactions : CTD548596
Chemical/Pharm GKB GenePA142672108
Clinical trialCKMT1A
Cancer Resource (Charite)ENSG00000223572
Other databases
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
CoreMineCKMT1A
iHOPCKMT1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 16:50:13 CEST 2014

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