MAGED1 Gene (Protein Coding)

MAGE Family Member D1

GC0XP051803
GIFtS:
43
This gene is a member of the melanoma antigen gene (MAGE) family. Most of the genes of this family encode tumor specific antigens that are not expressed in normal adult tissues except testis. Although the protein encoded by this gene shares strong homology with members of the MAGE family, it is expressed in almost all normal adult tissues. This gene has been demonstrated to be ... See more...

Aliases for MAGED1 Gene

Aliases for MAGED1 Gene

  • MAGE Family Member D1 2 3 5
  • NRAGE 2 3 4
  • Neurotrophin Receptor-Interacting MAGE Homolog 3 4
  • Melanoma-Associated Antigen D1 3 4
  • Melanoma Antigen Family D1 2 3
  • MAGE Tumor Antigen CCF 3 4
  • MAGE-D1 Antigen 3 4
  • DLXIN-1 2 3
  • Melanoma Antigen Family D, 1 3
  • MAGED1 5

External Ids for MAGED1 Gene

Previous GeneCards Identifiers for MAGED1 Gene

  • GC0XU990274
  • GC0XP049684
  • GC0XP050230
  • GC0XP050553
  • GC0XP051469
  • GC0XP051562
  • GC0XP048983

Summaries for MAGED1 Gene

Entrez Gene Summary for MAGED1 Gene

  • This gene is a member of the melanoma antigen gene (MAGE) family. Most of the genes of this family encode tumor specific antigens that are not expressed in normal adult tissues except testis. Although the protein encoded by this gene shares strong homology with members of the MAGE family, it is expressed in almost all normal adult tissues. This gene has been demonstrated to be involved in the p75 neurotrophin receptor mediated programmed cell death pathway. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for MAGED1 Gene

MAGED1 (MAGE Family Member D1) is a Protein Coding gene. Diseases associated with MAGED1 include Melanoma and Syndromic X-Linked Intellectual Disability. Among its related pathways are Signaling by GPCR and Development HGF signaling pathway. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity. An important paralog of this gene is MAGED4B.

UniProtKB/Swiss-Prot Summary for MAGED1 Gene

  • Involved in the apoptotic response after nerve growth factor (NGF) binding in neuronal cells. Inhibits cell cycle progression, and facilitates NGFR-mediated apoptosis. May act as a regulator of the function of DLX family members. May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Plays a role in the circadian rhythm regulation. May act as RORA co-regulator, modulating the expression of core clock genes such as ARNTL/BMAL1 and NFIL3, induced, or NR1D1, repressed.

Gene Wiki entry for MAGED1 Gene

Additional gene information for MAGED1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAGED1 Gene

Genomics for MAGED1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MAGED1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XJ051891 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.2 +91.3 91282 5.8 POLR2A THAP11 SIN3A SAP130 GABPB1 KLF9 DMAP1 SP2 RBM22 TBP HSALNG0137921 NONHSAG054492.2 MAGED1 RNU6-504P CENPVL1 RF00017-8440 MAGED4B
GH0XJ051802 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 250.7 +0.9 945 2.9 ZBTB10 ETS1 POLR2A ELF1 CTCF SIN3A GABPA HCFC1 VEZF1 ZEB2 MAGED1 RNU6-504P CENPVL1 NUDT11 LOC100631242 MAGED4B
GH0XJ051771 Enhancer 0.2 Ensembl 12.5 -31.4 -31397 0.4 GSPT2 MAGED1 piR-41405-173 piR-49097-113
GH0XJ051772 Enhancer 0.2 Ensembl 12.5 -30.8 -30798 0.4 GSPT2 MAGED1 piR-41405-173 piR-49097-113
GH0XJ051742 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 0.2 -58.7 -58676 3.8 POLR2A GABPA VEZF1 ZNF341 YY1 SMARCA5 ZBTB33 CBFB TAF1 HNF4A GSPT2 lnc-CENPVL2-3 NUDT11 MAGED1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAGED1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAGED1

Top Transcription factor binding sites by QIAGEN in the MAGED1 gene promoter:
  • AhR
  • AML1a
  • LyF-1
  • MZF-1
  • Pax-4a
  • POU2F1
  • POU2F1a
  • Roaz
  • RP58
  • Zic1

Genomic Locations for MAGED1 Gene

Latest Assembly
chrX:51,802,998-51,902,354
(GRCh38/hg38)
Size:
99,357 bases
Orientation:
Plus strand

Previous Assembly
chrX:51,546,172-51,645,450
(GRCh37/hg19 by Entrez Gene)
Size:
99,279 bases
Orientation:
Plus strand

chrX:51,546,103-51,645,453
(GRCh37/hg19 by Ensembl)
Size:
99,351 bases
Orientation:
Plus strand

Genomic View for MAGED1 Gene

Genes around MAGED1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAGED1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAGED1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MAGED1 Gene

Proteins for MAGED1 Gene

Products:

  1. Antibodies for research
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  • Protein details for MAGED1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5V3-MAGD1_HUMAN
    Recommended name:
    Melanoma-associated antigen D1
    Protein Accession:
    Q9Y5V3
    Secondary Accessions:
    • Q5VSH6
    • Q8IZ84
    • Q8WY92
    • Q9H352
    • Q9HBT4
    • Q9UF36

    Protein attributes for MAGED1 Gene

    Size:
    778 amino acids
    Molecular mass:
    86161 Da
    Quaternary structure:
    • Interacts with DLX5, DLX7 and MSX2 and forms homomultimers. Interacts with UNC5A. Interacts with TRIM28 and PJA1. Interacts with NGFR/p75NTR and RORA.
    SequenceCaution:
    • Sequence=AAD31421.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAG35551.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for MAGED1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAGED1 Gene

Protein Expression for MAGED1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MAGED1 Gene

  • Ubiquitination at Lys86, Lys101, Lys141, Lys154, Lys178, Lys182, Lys189, Lys251, Lys489, Lys493, Lys522, Lys523, Lys605, Lys613, Lys615, and Lys656
  • Modification sites at PhosphoSitePlus

Other Protein References for MAGED1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAGED1 Gene

Domains & Families for MAGED1 Gene

Gene Families for MAGED1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for MAGED1 Gene

InterPro:
Blocks:
  • MAGE protein
ProtoNet:

Suggested Antigen Peptide Sequences for MAGED1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53080, highly similar to Melanoma-associated antigen D1 (B4DQ04_HUMAN)
  • Neurotrophin receptor-interacting MAGE homolog (MAGD1_HUMAN)
genes like me logo Genes that share domains with MAGED1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MAGED1 Gene

Function for MAGED1 Gene

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  6. Cell Lines for research

Molecular function for MAGED1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the apoptotic response after nerve growth factor (NGF) binding in neuronal cells. Inhibits cell cycle progression, and facilitates NGFR-mediated apoptosis. May act as a regulator of the function of DLX family members. May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Plays a role in the circadian rhythm regulation. May act as RORA co-regulator, modulating the expression of core clock genes such as ARNTL/BMAL1 and NFIL3, induced, or NR1D1, repressed.
GENATLAS Biochemistry:
putative melanoma antigen,family D,member 1,expressed in breast,colon,brain,fetal tissue,tumoral cell (breast,lung,prostate,Wilms),not recognized by T cells but expressed only in tumor and germ-line cells

Gene Ontology (GO) - Molecular Function for MAGED1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15930293
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with MAGED1: view
genes like me logo Genes that share phenotypes with MAGED1: view

Animal Models for MAGED1 Gene

MGI Knock Outs for MAGED1:

Animal Models for research

miRNA for MAGED1 Gene

miRTarBase miRNAs that target MAGED1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAGED1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MAGED1 Gene

Localization for MAGED1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAGED1 Gene

Cytoplasm. Cell membrane. Peripheral membrane protein. Nucleus. Note=Expression shifts from the cytoplasm to the plasma membrane upon stimulation with NGF. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAGED1 gene
Compartment Confidence
plasma membrane 4
nucleus 4
cytosol 3
extracellular 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAGED1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISS --
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MAGED1: view

Pathways & Interactions for MAGED1 Gene

genes like me logo Genes that share pathways with MAGED1: view

Pathways by source for MAGED1 Gene

1 KEGG pathway for MAGED1 Gene
1 GeneGo (Thomson Reuters) pathway for MAGED1 Gene
  • Development Neurotrophin family signaling

SIGNOR curated interactions for MAGED1 Gene

Activates:

Gene Ontology (GO) - Biological Process for MAGED1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated TAS 15930293
GO:0032922 circadian regulation of gene expression ISS --
GO:0042981 regulation of apoptotic process TAS 15930293
GO:0048511 rhythmic process IEA --
GO:0050680 negative regulation of epithelial cell proliferation IDA 15930293
genes like me logo Genes that share ontologies with MAGED1: view

Drugs & Compounds for MAGED1 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for MAGED1 Gene

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  2. miRNA products for research
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mRNA/cDNA for MAGED1 Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAGED1

Alternative Splicing Database (ASD) splice patterns (SP) for MAGED1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15
SP1: - - -
SP2: - - - -
SP3: - - - - - - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - -
SP6:
SP7: -
SP8: - -
SP9:

Relevant External Links for MAGED1 Gene

GeneLoc Exon Structure for
MAGED1

Expression for MAGED1 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAGED1 Gene

mRNA expression in normal human tissues for MAGED1 Gene
mRNA expression by GTEx for MAGED1 GenemRNA expression by BioGPS for MAGED1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAGED1 Gene

This gene is overexpressed in Bone (47.2) and Heart (15.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MAGED1 Gene



Protein tissue co-expression partners for MAGED1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAGED1

SOURCE GeneReport for Unigene cluster for MAGED1 Gene:

Hs.5258

mRNA Expression by UniProt/SwissProt for MAGED1 Gene:

Q9Y5V3-MAGD1_HUMAN
Tissue specificity: Expressed in bone marrow stromal cells from both multiple myeloma patients and healthy donors. Seems to be ubiquitously expressed.

Evidence on tissue expression from TISSUES for MAGED1 Gene

  • Skin(4.9)
  • Nervous system(4.8)
  • Blood(4.4)
  • Bone marrow(4.3)
  • Lung(4.2)
  • Pancreas(3.6)
  • Liver(3.4)
  • Eye(3.1)
  • Adrenal gland(2.5)
  • Intestine(2.5)
  • Kidney(2.4)
  • Muscle(2.3)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with MAGED1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAGED1 Gene

Orthologs for MAGED1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MAGED1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MAGED1 30 31
  • 99.72 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MAGED1 30 31
  • 91.16 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MAGED1 30 31
  • 89.9 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Maged1 30
  • 88.79 (n)
Mouse
(Mus musculus)
 Mammalia Maged1 30 17 31
  • 88.62 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 43 (a)
 ManyToMany
-- 31
  • 33 (a)
 ManyToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 40 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves MAGE 31
  • 41 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 37 (a)
 OneToMany
Zebrafish
(Danio rerio)
 Actinopterygii ndnl2 31
  • 37 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 34 (a)
 OneToMany
Species where no ortholog for MAGED1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MAGED1 Gene

ENSEMBL:
Gene Tree for MAGED1 (if available)
TreeFam:
Gene Tree for MAGED1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAGED1: view image

Paralogs for MAGED1 Gene

Variants for MAGED1 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAGED1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs138624949 Benign: not provided 51,896,717(+) G/A
NM_006986.4(MAGED1):c.1062G>A (p.Val354=) 		SYNONYMOUS
rs1400404095 Likely Benign: not provided 51,896,549(+) G/A
NM_006986.4(MAGED1):c.894G>A (p.Thr298=) 		SYNONYMOUS
rs142436276 Benign: not provided 51,901,900(+) T/C
NM_006986.4(MAGED1):c.2307T>C (p.Phe769=) 		SYNONYMOUS
rs144656819 Benign: not provided 51,901,618(+) T/C
NM_006986.4(MAGED1):c.2025T>C (p.Asp675=) 		SYNONYMOUS
rs145588024 Benign: not provided 51,894,750(+) G/A
NM_006986.4(MAGED1):c.46-303G>A 		MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MAGED1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MAGED1 Gene

Variant ID Type Subtype PubMed ID
esv2664331 CNV deletion 23128226
esv3350872 OTHER inversion 20981092
esv3558875 CNV deletion 23714750
esv3573968 CNV loss 25503493
nsv516643 CNV gain 19592680
nsv6906 CNV deletion 18451855

Variation tolerance for MAGED1 Gene

Residual Variation Intolerance Score: 25.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.68; 14.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAGED1 Gene

Human Gene Mutation Database (HGMD)
MAGED1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAGED1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAGED1 Gene

Disorders for MAGED1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MAGED1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
melanoma
  • malignant melanoma
syndromic x-linked intellectual disability
  • x-linked syndromic intellectual disability
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MAGED1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MAGED1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAGED1 Gene

Publications for MAGED1 Gene

  1. hNRAGE, a human neurotrophin receptor interacting MAGE homologue, regulates p53 transcriptional activity and inhibits cell proliferation. (PMID: 15094062) Wen CJ … Li CJ (FEBS letters 2004) 3 4 23
  2. [A new melanoma antigen-encoding gene subfamily in human chromosome X]. (PMID: 11280991) Zhang CG … He FC (Yi chuan xue bao = Acta genetica Sinica 2001) 3 4 23
  3. NRAGE, a novel MAGE protein, interacts with the p75 neurotrophin receptor and facilitates nerve growth factor-dependent apoptosis. (PMID: 10985348) Salehi AH … Barker PA (Neuron 2000) 3 4 23
  4. Identification of a new, unorthodox member of the MAGE gene family. (PMID: 10409427) Põld M … Berenson JR (Genomics 1999) 2 3 4
  5. MAGE-RING protein complexes comprise a family of E3 ubiquitin ligases. (PMID: 20864041) Doyle JM … Potts PR (Molecular cell 2010) 3 4

ExternalLinks

View latest publications for MAGED1 gene in Mastermind

Products for MAGED1 Gene

Sources for MAGED1 Gene