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MNAT1 (MNAT1, CDK activating kinase assembly factor)

Identity

Alias_namesmenage a trois 1 (CAK assembly factor)
menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)
MNAT CDK-activating kinase assembly factor 1
Alias_symbol (synonym)MAT1
RNF66
Other aliasCAP35
TFB3
HGNC (Hugo) MNAT1
LocusID (NCBI) 4331
Atlas_Id 41411
Location 14q23.1  [Link to chromosome band 14q23]
Location_base_pair Starts at 60734741 and ends at 60968680 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CACNA1C (12p13.33) / MNAT1 (14q23.1)HIF1A (14q23.2) / MNAT1 (14q23.1)MNAT1 (14q23.1) / L2HGDH (14q21.3)
MNAT1 (14q23.1) / MNAT1 (14q23.1)MNAT1 (14q23.1) / PCNXL4 ()MNAT1 (14q23.1) / RASGEF1B (4q21.21)
MNAT1 (14q23.1) / SEPT2 (2q37.3)MNAT1 (14q23.1) / SIX1 (14q23.1)SVIL (10p11.23) / MNAT1 (14q23.1)
TANK (2q24.2) / MNAT1 (14q23.1)HIF1A 14q23.2 / MNAT1 14q23.1MNAT1 14q23.1 C14orf135
MNAT1 14q23.1 / RASGEF1B 4q21.21MNAT1 14q23.1 / SIX1 14q23.1TANK 2q24.2 / MNAT1 14q23.1

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)MNAT1   7181
Cards
Entrez_Gene (NCBI)MNAT1  4331  MNAT1, CDK activating kinase assembly factor
AliasesCAP35; MAT1; RNF66; TFB3
GeneCards (Weizmann)MNAT1
Ensembl hg19 (Hinxton)ENSG00000020426 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000020426 [Gene_View]  chr14:60734741-60968680 [Contig_View]  MNAT1 [Vega]
ICGC DataPortalENSG00000020426
TCGA cBioPortalMNAT1
AceView (NCBI)MNAT1
Genatlas (Paris)MNAT1
WikiGenes4331
SOURCE (Princeton)MNAT1
Genetics Home Reference (NIH)MNAT1
Genomic and cartography
GoldenPath hg38 (UCSC)MNAT1  -     chr14:60734741-60968680 +  14q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MNAT1  -     14q23.1   [Description]    (hg19-Feb_2009)
EnsemblMNAT1 - 14q23.1 [CytoView hg19]  MNAT1 - 14q23.1 [CytoView hg38]
Mapping of homologs : NCBIMNAT1 [Mapview hg19]  MNAT1 [Mapview hg38]
OMIM602659   
Gene and transcription
Genbank (Entrez)AA053721 AK308701 BC000820 BU620200 CD701743
RefSeq transcript (Entrez)NM_001177963 NM_002431
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MNAT1
Cluster EST : UnigeneHs.509523 [ NCBI ]
CGAP (NCI)Hs.509523
Alternative Splicing GalleryENSG00000020426
Gene ExpressionMNAT1 [ NCBI-GEO ]   MNAT1 [ EBI - ARRAY_EXPRESS ]   MNAT1 [ SEEK ]   MNAT1 [ MEM ]
Gene Expression Viewer (FireBrowse)MNAT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4331
GTEX Portal (Tissue expression)MNAT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51948   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51948  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51948
Splice isoforms : SwissVarP51948
PhosPhoSitePlusP51948
Domaine pattern : Prosite (Expaxy)UIM (PS50330)    ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)Cdk-activating_kinase_MAT1_cen    MAT1/Tfb3    UIM_dom    Znf_RING    Znf_RING/FYVE/PHD    Znf_RING_CS   
Domain families : Pfam (Sanger)MAT1 (PF06391)    zf-C3HC4_5 (PF17121)   
Domain families : Pfam (NCBI)pfam06391    pfam17121   
Domain families : Smart (EMBL)RING (SM00184)  
Conserved Domain (NCBI)MNAT1
DMDM Disease mutations4331
Blocks (Seattle)MNAT1
PDB (SRS)1G25   
PDB (PDBSum)1G25   
PDB (IMB)1G25   
PDB (RSDB)1G25   
Structural Biology KnowledgeBase1G25   
SCOP (Structural Classification of Proteins)1G25   
CATH (Classification of proteins structures)1G25   
SuperfamilyP51948
Human Protein AtlasENSG00000020426
Peptide AtlasP51948
HPRD04042
IPIIPI00294701   IPI01024703   IPI01025122   IPI00965856   
Protein Interaction databases
DIP (DOE-UCLA)P51948
IntAct (EBI)P51948
FunCoupENSG00000020426
BioGRIDMNAT1
STRING (EMBL)MNAT1
ZODIACMNAT1
Ontologies - Pathways
QuickGOP51948
Ontology : AmiGOregulation of cyclin-dependent protein serine/threonine kinase activity  G1/S transition of mitotic cell cycle  G2/M transition of mitotic cell cycle  protein binding  nucleoplasm  nucleoplasm  holo TFIIH complex  cytosol  DNA repair  transcription-coupled nucleotide-excision repair  nucleotide-excision repair, preincision complex assembly  regulation of transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase I promoter  transcription elongation from RNA polymerase I promoter  termination of RNA polymerase I transcription  transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  7-methylguanosine mRNA capping  protein complex assembly  protein phosphorylation  adult heart development  DNA-dependent ATPase activity  zinc ion binding  cell proliferation  RNA polymerase II carboxy-terminal domain kinase activity  ventricular system development  negative regulation of apoptotic process  positive regulation of cyclin-dependent protein serine/threonine kinase activity  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  protein N-terminus binding  positive regulation of smooth muscle cell proliferation  response to calcium ion  cyclin-dependent protein serine/threonine kinase activator activity  
Ontology : EGO-EBIregulation of cyclin-dependent protein serine/threonine kinase activity  G1/S transition of mitotic cell cycle  G2/M transition of mitotic cell cycle  protein binding  nucleoplasm  nucleoplasm  holo TFIIH complex  cytosol  DNA repair  transcription-coupled nucleotide-excision repair  nucleotide-excision repair, preincision complex assembly  regulation of transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase I promoter  transcription elongation from RNA polymerase I promoter  termination of RNA polymerase I transcription  transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  7-methylguanosine mRNA capping  protein complex assembly  protein phosphorylation  adult heart development  DNA-dependent ATPase activity  zinc ion binding  cell proliferation  RNA polymerase II carboxy-terminal domain kinase activity  ventricular system development  negative regulation of apoptotic process  positive regulation of cyclin-dependent protein serine/threonine kinase activity  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  protein N-terminus binding  positive regulation of smooth muscle cell proliferation  response to calcium ion  cyclin-dependent protein serine/threonine kinase activator activity  
Pathways : BIOCARTASonic Hedgehog (SHH) Receptor Ptc1 Regulates cell cycle [Genes]   
Pathways : KEGGBasal transcription factors    Nucleotide excision repair   
NDEx NetworkMNAT1
Atlas of Cancer Signalling NetworkMNAT1
Wikipedia pathwaysMNAT1
Orthology - Evolution
OrthoDB4331
GeneTree (enSembl)ENSG00000020426
Phylogenetic Trees/Animal Genes : TreeFamMNAT1
HOVERGENP51948
HOGENOMP51948
Homologs : HomoloGeneMNAT1
Homology/Alignments : Family Browser (UCSC)MNAT1
Gene fusions - Rearrangements
Fusion : MitelmanHIF1A/MNAT1 [14q23.2/14q23.1]  [t(14;14)(q23;q23)]  
Fusion : MitelmanMNAT1/PCNXL4 [14q23.1/14q23.1]  [t(14;14)(q23;q23)]  
Fusion : MitelmanMNAT1/RASGEF1B [14q23.1/4q21.21]  [t(4;14)(q21;q23)]  
Fusion : MitelmanMNAT1/SIX1 [14q23.1/14q23.1]  [t(14;14)(q23;q23)]  
Fusion : MitelmanTANK/MNAT1 [2q24.2/14q23.1]  [t(2;14)(q24;q23)]  
Fusion: TCGAHIF1A 14q23.2 MNAT1 14q23.1 BRCA
Fusion: TCGAMNAT1 14q23.1 C14orf135 BRCA
Fusion: TCGAMNAT1 14q23.1 RASGEF1B 4q21.21 PRAD
Fusion: TCGAMNAT1 14q23.1 SIX1 14q23.1 LUAD
Fusion: TCGATANK 2q24.2 MNAT1 14q23.1 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMNAT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MNAT1
dbVarMNAT1
ClinVarMNAT1
1000_GenomesMNAT1 
Exome Variant ServerMNAT1
ExAC (Exome Aggregation Consortium)MNAT1 (select the gene name)
Genetic variants : HAPMAP4331
Genomic Variants (DGV)MNAT1 [DGVbeta]
DECIPHERMNAT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMNAT1 
Mutations
ICGC Data PortalMNAT1 
TCGA Data PortalMNAT1 
Broad Tumor PortalMNAT1
OASIS PortalMNAT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMNAT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMNAT1
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
BioMutasearch MNAT1
DgiDB (Drug Gene Interaction Database)MNAT1
DoCM (Curated mutations)MNAT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MNAT1 (select a term)
intoGenMNAT1
Cancer3DMNAT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602659   
Orphanet
MedgenMNAT1
Genetic Testing Registry MNAT1
NextProtP51948 [Medical]
TSGene4331
GENETestsMNAT1
Target ValidationMNAT1
Huge Navigator MNAT1 [HugePedia]
snp3D : Map Gene to Disease4331
BioCentury BCIQMNAT1
ClinGenMNAT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4331
Chemical/Pharm GKB GenePA30894
Clinical trialMNAT1
Miscellaneous
canSAR (ICR)MNAT1 (select the gene name)
Probes
Litterature
PubMed93 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMNAT1
EVEXMNAT1
GoPubMedMNAT1
iHOPMNAT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:08:06 CEST 2017

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