Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

MAML1 (mastermind like transcriptional coactivator 1)

Identity

Alias_namesmastermind (drosophila)-like 1
mastermind-like 1 (Drosophila)
Alias_symbol (synonym)KIAA0200
Mam-1
Other aliasMam1
HGNC (Hugo) MAML1
LocusID (NCBI) 9794
Atlas_Id 47260
Location 5q35.3  [Link to chromosome band 5q35]
Location_base_pair Starts at 179732850 and ends at 179777286 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MAML1 (5q35.3) / ACAA2 (18q21.1)MAML1 (5q35.3) / COL23A1 (5q35.3)MAML1 (5q35.3) / HNRNPUL1 (19q13.2)
MAML1 (5q35.3) / SERPINA3 (14q32.13)TSPAN9 (12p13.33) / MAML1 (5q35.3)

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  Chronic Myelomonocytic Leukemia (CMML)


External links

Nomenclature
HGNC (Hugo)MAML1   13632
Cards
Entrez_Gene (NCBI)MAML1  9794  mastermind like transcriptional coactivator 1
AliasesMam-1; Mam1
GeneCards (Weizmann)MAML1
Ensembl hg19 (Hinxton)ENSG00000161021 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000161021 [Gene_View]  chr5:179732850-179777286 [Contig_View]  MAML1 [Vega]
ICGC DataPortalENSG00000161021
TCGA cBioPortalMAML1
AceView (NCBI)MAML1
Genatlas (Paris)MAML1
WikiGenes9794
SOURCE (Princeton)MAML1
Genetics Home Reference (NIH)MAML1
Genomic and cartography
GoldenPath hg38 (UCSC)MAML1  -     chr5:179732850-179777286 +  5q35.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAML1  -     5q35.3   [Description]    (hg19-Feb_2009)
EnsemblMAML1 - 5q35.3 [CytoView hg19]  MAML1 - 5q35.3 [CytoView hg38]
Mapping of homologs : NCBIMAML1 [Mapview hg19]  MAML1 [Mapview hg38]
OMIM605424   
Gene and transcription
Genbank (Entrez)AA975821 AB209135 AF221759 AK295139 BC047937
RefSeq transcript (Entrez)NM_014757
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MAML1
Cluster EST : UnigeneHs.631951 [ NCBI ]
CGAP (NCI)Hs.631951
Alternative Splicing GalleryENSG00000161021
Gene ExpressionMAML1 [ NCBI-GEO ]   MAML1 [ EBI - ARRAY_EXPRESS ]   MAML1 [ SEEK ]   MAML1 [ MEM ]
Gene Expression Viewer (FireBrowse)MAML1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9794
GTEX Portal (Tissue expression)MAML1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92585   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92585  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92585
Splice isoforms : SwissVarQ92585
PhosPhoSitePlusQ92585
Domains : Interpro (EBI)Neuroggenic_mastermind-like_N   
Domain families : Pfam (Sanger)MamL-1 (PF09596)   
Domain families : Pfam (NCBI)pfam09596   
Domain families : Smart (EMBL)MamL-1 (SM01275)  
Conserved Domain (NCBI)MAML1
DMDM Disease mutations9794
Blocks (Seattle)MAML1
PDB (SRS)2F8X    3NBN    3V79   
PDB (PDBSum)2F8X    3NBN    3V79   
PDB (IMB)2F8X    3NBN    3V79   
PDB (RSDB)2F8X    3NBN    3V79   
Structural Biology KnowledgeBase2F8X    3NBN    3V79   
SCOP (Structural Classification of Proteins)2F8X    3NBN    3V79   
CATH (Classification of proteins structures)2F8X    3NBN    3V79   
SuperfamilyQ92585
Human Protein AtlasENSG00000161021
Peptide AtlasQ92585
HPRD05665
IPIIPI00006108   IPI00556076   
Protein Interaction databases
DIP (DOE-UCLA)Q92585
IntAct (EBI)Q92585
FunCoupENSG00000161021
BioGRIDMAML1
STRING (EMBL)MAML1
ZODIACMAML1
Ontologies - Pathways
QuickGOQ92585
Ontology : AmiGOMAML1-RBP-Jkappa- ICN1 complex  atrioventricular node development  transcription coactivator activity  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription initiation from RNA polymerase II promoter  protein phosphorylation  Notch signaling pathway  Notch signaling pathway  positive regulation of transcription of Notch receptor target  positive regulation of myotube differentiation  nuclear speck  protein kinase binding  peptide antigen binding  intracellular membrane-bounded organelle  myoblast differentiation  positive regulation of transcription from RNA polymerase II promoter  atrioventricular node cell development  
Ontology : EGO-EBIMAML1-RBP-Jkappa- ICN1 complex  atrioventricular node development  transcription coactivator activity  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription initiation from RNA polymerase II promoter  protein phosphorylation  Notch signaling pathway  Notch signaling pathway  positive regulation of transcription of Notch receptor target  positive regulation of myotube differentiation  nuclear speck  protein kinase binding  peptide antigen binding  intracellular membrane-bounded organelle  myoblast differentiation  positive regulation of transcription from RNA polymerase II promoter  atrioventricular node cell development  
Pathways : KEGGNotch signaling pathway   
NDEx NetworkMAML1
Atlas of Cancer Signalling NetworkMAML1
Wikipedia pathwaysMAML1
Orthology - Evolution
OrthoDB9794
GeneTree (enSembl)ENSG00000161021
Phylogenetic Trees/Animal Genes : TreeFamMAML1
HOVERGENQ92585
HOGENOMQ92585
Homologs : HomoloGeneMAML1
Homology/Alignments : Family Browser (UCSC)MAML1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAML1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAML1
dbVarMAML1
ClinVarMAML1
1000_GenomesMAML1 
Exome Variant ServerMAML1
ExAC (Exome Aggregation Consortium)MAML1 (select the gene name)
Genetic variants : HAPMAP9794
Genomic Variants (DGV)MAML1 [DGVbeta]
DECIPHERMAML1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAML1 
Mutations
ICGC Data PortalMAML1 
TCGA Data PortalMAML1 
Broad Tumor PortalMAML1
OASIS PortalMAML1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAML1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMAML1
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 MAML1
DgiDB (Drug Gene Interaction Database)MAML1
DoCM (Curated mutations)MAML1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAML1 (select a term)
intoGenMAML1
Cancer3DMAML1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605424   
Orphanet
MedgenMAML1
Genetic Testing Registry MAML1
NextProtQ92585 [Medical]
TSGene9794
GENETestsMAML1
Huge Navigator MAML1 [HugePedia]
snp3D : Map Gene to Disease9794
BioCentury BCIQMAML1
ClinGenMAML1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9794
Chemical/Pharm GKB GenePA30569
Clinical trialMAML1
Miscellaneous
canSAR (ICR)MAML1 (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAML1
EVEXMAML1
GoPubMedMAML1
iHOPMAML1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:23:59 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.