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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
Entrez_Gene (NCBI)CKMT1A  548596  creatine kinase, mitochondrial 1A
Cards
GeneCards (Weizmann)CKMT1A
Ensembl (Hinxton)ENSG00000223572 [Gene_View]  chr15:43985084-43991420 [Contig_View]  CKMT1A [Vega]
AceView (NCBI)CKMT1A
Genatlas (Paris)CKMT1A
SOURCE (Stanford)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 (SRS)NM_001015001
RefSeq transcript (Entrez)NM_001015001
RefSeq genomic (SRS)AC_000147 NC_000015 NC_018926 NT_010194 NW_001838215 NW_004078084
RefSeq genomic (Entrez)AC_000147 NC_000015 NC_018926 NT_010194 NW_001838215 NW_004078084
Consensus coding sequences : CCDS (NCBI)CKMT1A
Cluster EST : UnigeneHs.741420 [ SRS ] Hs.741420 [ NCBI ]
CGAP (NCI)Hs.741420
Alternative Splicing : Fast-db (Paris)GSHG0033849
Alternative Splicing GalleryENSG00000223572
Gene ExpressionCKMT1A [ NCBI-GEO ]   CKMT1A [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12532 (SRS) P12532 (Uniprot)
NextProtP12532
With graphics : InterProP12532
Splice isoforms : SwissVarP12532(Swissvar)
Domaine pattern : Prosite (SRS)PHOSPHAGEN_KINASE (PS00112)    PHOSPHAGEN_KINASE_C (PS51510)    PHOSPHAGEN_KINASE_N (PS51509)   
Domaine pattern : Prosite (Expaxy)PHOSPHAGEN_KINASE (PS00112)    PHOSPHAGEN_KINASE_C (PS51510)    PHOSPHAGEN_KINASE_N (PS51509)   
Domains : Interpro (SRS)ATP-guanido_PTrfase    ATP-guanido_PTrfase_AS    ATP-guanido_PTrfase_cat    ATP-guanido_PTrfase_N    Gln_synth/guanido_kin_cat_dom   
Domains : Interpro (EBI)ATP-guanido_PTrfase    ATP-guanido_PTrfase_AS    ATP-guanido_PTrfase_cat    ATP-guanido_PTrfase_N    Gln_synth/guanido_kin_cat_dom   
Related proteins : CluSTrP12532
Domain families : Pfam (SRS)ATP-gua_Ptrans (PF00217)    ATP-gua_PtransN (PF02807)   
Domain families : Pfam (Sanger)ATP-gua_Ptrans (PF00217)    ATP-gua_PtransN (PF02807)   
Domain families : Pfam (NCBI)pfam00217    pfam02807   
DMDM548596
Blocks (Seattle)P12532
PDB (SRS)1QK1   
PDB (PDBSum)1QK1   
PDB (IMB)1QK1   
PDB (RSDB)1QK1   
Human Protein AtlasENSG00000223572
HPRD18683
Protein Interaction databases
DIP (DOE-UCLA)P12532
IntAct (EBI)P12532
FunCoupENSG00000223572
REACTOMECKMT1A
Protein Interaction Database548596
BioGRIDCKMT1A
InParanoidP12532
Interologous Interaction database P12532
IntegromeDBCKMT1A
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CKMT1A
SNP (GeneSNP Utah)CKMT1A
SNP : HGBaseCKMT1A
Genetic variants : HAPMAPCKMT1A
Somatic Mutations in Cancer : COSMICCKMT1A 
CONAN: Copy Number AnalysisCKMT1A 
Mutations and Diseases : HGMDCKMT1A
OMIM613415   
GENETests613415   
Disease Genetic AssociationCKMT1A
Huge Navigator CKMT1A [HugePedia]  CKMT1A [HugeCancerGEM]
Genomic VariantsCKMT1A  CKMT1A [DGVbeta]
snp3D : Map Gene to Disease548596
General knowledge
Homologs : HomoloGeneCKMT1A
Homology/Alignments : Family Browser (UCSC)CKMT1A
Phylogenetic Trees/Animal Genes : TreeFamCKMT1A
Catalytic activity : Enzyme2.7.3.2 [ Enzyme-Expasy ]   2.7.3.2 [ Enzyme-SRS ]   2.7.3.2 [ IntEnz-EBI ]   2.7.3.2 [ BRENDA ]   2.7.3.2 [ KEGG ]   
Chemical/Protein Interactions : CTD548596
Chemical/Pharm GKB GenePA142672108
Clinical trialCKMT1A
Cancer Resource (Charite)ENSG00000223572
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 metabolismUrea cycle and metabolism of amino groups
Other databases
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
PubGeneCKMT1A
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
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:29:53 CEST 2013

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