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MDGA1 (MAM domain containing glycosylphosphatidylinositol anchor 1)

Identity

Alias_symbol (synonym)GPIM
MAMDC3
Other alias
HGNC (Hugo) MDGA1
LocusID (NCBI) 266727
Atlas_Id 54447
Location 6p21.2  [Link to chromosome band 6p21]
Location_base_pair Starts at 37632508 and ends at 37697990 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MDGA1 (6p21.2) / PTK7 (6p21.1)POLR1C (6p21.1) / MDGA1 (6p21.2)MDGA1 6p21.2 / PTK7 6p21.1
POLR1C 6p21.1 / MDGA1 6p21.2

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  MDGA1/PTK7 (6p21)
POLR1C/MDGA1 (6p21)


External links

Nomenclature
HGNC (Hugo)MDGA1   19267
Cards
Entrez_Gene (NCBI)MDGA1  266727  MAM domain containing glycosylphosphatidylinositol anchor 1
AliasesGPIM; MAMDC3
GeneCards (Weizmann)MDGA1
Ensembl hg19 (Hinxton)ENSG00000112139 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112139 [Gene_View]  ENSG00000112139 [Sequence]  chr6:37632508-37697990 [Contig_View]  MDGA1 [Vega]
ICGC DataPortalENSG00000112139
TCGA cBioPortalMDGA1
AceView (NCBI)MDGA1
Genatlas (Paris)MDGA1
WikiGenes266727
SOURCE (Princeton)MDGA1
Genetics Home Reference (NIH)MDGA1
Genomic and cartography
GoldenPath hg38 (UCSC)MDGA1  -     chr6:37632508-37697990 -  6p21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MDGA1  -     6p21.2   [Description]    (hg19-Feb_2009)
EnsemblMDGA1 - 6p21.2 [CytoView hg19]  MDGA1 - 6p21.2 [CytoView hg38]
Mapping of homologs : NCBIMDGA1 [Mapview hg19]  MDGA1 [Mapview hg38]
OMIM609626   
Gene and transcription
Genbank (Entrez)AF478693 AK055376 AK090677 AK091149 AK091650
RefSeq transcript (Entrez)NM_153487
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MDGA1
Cluster EST : UnigeneHs.437993 [ NCBI ]
CGAP (NCI)Hs.437993
Alternative Splicing GalleryENSG00000112139
Gene ExpressionMDGA1 [ NCBI-GEO ]   MDGA1 [ EBI - ARRAY_EXPRESS ]   MDGA1 [ SEEK ]   MDGA1 [ MEM ]
Gene Expression Viewer (FireBrowse)MDGA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)266727
GTEX Portal (Tissue expression)MDGA1
Human Protein AtlasENSG00000112139-MDGA1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NFP4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NFP4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NFP4
Splice isoforms : SwissVarQ8NFP4
PhosPhoSitePlusQ8NFP4
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    IG_LIKE (PS50835)    MAM_2 (PS50060)   
Domains : Interpro (EBI)ConA-like_dom_sf    FN3_dom    FN3_sf    Ig-like_dom    Ig-like_dom_sf    Ig-like_fold    Ig_sub    Ig_sub2    MAM_dom   
Domain families : Pfam (Sanger)MAM (PF00629)   
Domain families : Pfam (NCBI)pfam00629   
Domain families : Smart (EMBL)IG (SM00409)  IGc2 (SM00408)  MAM (SM00137)  
Conserved Domain (NCBI)MDGA1
DMDM Disease mutations266727
Blocks (Seattle)MDGA1
PDB (SRS)5V5V    5V5W    5XEQ   
PDB (PDBSum)5V5V    5V5W    5XEQ   
PDB (IMB)5V5V    5V5W    5XEQ   
PDB (RSDB)5V5V    5V5W    5XEQ   
Structural Biology KnowledgeBase5V5V    5V5W    5XEQ   
SCOP (Structural Classification of Proteins)5V5V    5V5W    5XEQ   
CATH (Classification of proteins structures)5V5V    5V5W    5XEQ   
SuperfamilyQ8NFP4
Human Protein Atlas [tissue]ENSG00000112139-MDGA1 [tissue]
Peptide AtlasQ8NFP4
HPRD14374
IPIIPI00168866   IPI00410349   IPI00979296   IPI00967605   IPI00965728   IPI00964742   IPI00871694   
Protein Interaction databases
DIP (DOE-UCLA)Q8NFP4
IntAct (EBI)Q8NFP4
FunCoupENSG00000112139
BioGRIDMDGA1
STRING (EMBL)MDGA1
ZODIACMDGA1
Ontologies - Pathways
QuickGOQ8NFP4
Ontology : AmiGOneuron migration  molecular_function  extracellular region  extracellular space  plasma membrane  brain development  spinal cord association neuron differentiation  anchored component of plasma membrane  anchored component of plasma membrane  GABA-ergic synapse  GABA-ergic synapse  regulation of synaptic membrane adhesion  regulation of synaptic membrane adhesion  regulation of presynapse assembly  regulation of presynapse assembly  
Ontology : EGO-EBIneuron migration  molecular_function  extracellular region  extracellular space  plasma membrane  brain development  spinal cord association neuron differentiation  anchored component of plasma membrane  anchored component of plasma membrane  GABA-ergic synapse  GABA-ergic synapse  regulation of synaptic membrane adhesion  regulation of synaptic membrane adhesion  regulation of presynapse assembly  regulation of presynapse assembly  
NDEx NetworkMDGA1
Atlas of Cancer Signalling NetworkMDGA1
Wikipedia pathwaysMDGA1
Orthology - Evolution
OrthoDB266727
GeneTree (enSembl)ENSG00000112139
Phylogenetic Trees/Animal Genes : TreeFamMDGA1
HOVERGENQ8NFP4
HOGENOMQ8NFP4
Homologs : HomoloGeneMDGA1
Homology/Alignments : Family Browser (UCSC)MDGA1
Gene fusions - Rearrangements
Fusion : MitelmanMDGA1/PTK7 [6p21.2/6p21.1]  
Fusion : MitelmanPOLR1C/MDGA1 [6p21.1/6p21.2]  [t(6;6)(p21;p21)]  
Fusion PortalMDGA1 6p21.2 PTK7 6p21.1 GBM
Fusion PortalPOLR1C 6p21.1 MDGA1 6p21.2 BRCA
Fusion : QuiverMDGA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMDGA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MDGA1
dbVarMDGA1
ClinVarMDGA1
1000_GenomesMDGA1 
Exome Variant ServerMDGA1
ExAC (Exome Aggregation Consortium)ENSG00000112139
GNOMAD BrowserENSG00000112139
Varsome BrowserMDGA1
Genetic variants : HAPMAP266727
Genomic Variants (DGV)MDGA1 [DGVbeta]
DECIPHERMDGA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMDGA1 
Mutations
ICGC Data PortalMDGA1 
TCGA Data PortalMDGA1 
Broad Tumor PortalMDGA1
OASIS PortalMDGA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMDGA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMDGA1
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 MDGA1
DgiDB (Drug Gene Interaction Database)MDGA1
DoCM (Curated mutations)MDGA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MDGA1 (select a term)
intoGenMDGA1
Cancer3DMDGA1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609626   
Orphanet
DisGeNETMDGA1
MedgenMDGA1
Genetic Testing Registry MDGA1
NextProtQ8NFP4 [Medical]
TSGene266727
GENETestsMDGA1
Target ValidationMDGA1
Huge Navigator MDGA1 [HugePedia]
snp3D : Map Gene to Disease266727
BioCentury BCIQMDGA1
ClinGenMDGA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD266727
Chemical/Pharm GKB GenePA134864540
Clinical trialMDGA1
Miscellaneous
canSAR (ICR)MDGA1 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMDGA1
EVEXMDGA1
GoPubMedMDGA1
iHOPMDGA1
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 : Tue Nov 6 11:19:25 CET 2018

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