This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are cluster... See more...

Aliases for MAGEA1 Gene

Aliases for MAGEA1 Gene

  • MAGE Family Member A1 2 3 5
  • Melanoma-Associated Antigen 1 2 3 4
  • CT1.1 2 3 4
  • Melanoma Antigen Family A, 1 (Directs Expression Of Antigen MZ2-E) 2 3
  • Cancer/Testis Antigen Family 1, Member 1 2 3
  • Melanoma-Associated Antigen MZ2-E 2 3
  • Melanoma Antigen Family A 1 2 3
  • Melanoma Antigen Family A1 2 3
  • Cancer/Testis Antigen 1.1 3 4
  • Melanoma Antigen MAGE-1 2 3
  • MAGE-1 Antigen 3 4
  • Antigen MZ2-E 3 4
  • MAGE1 3 4
  • MGC9326 2
  • MAGEA1 5
  • MAGE1A 4

External Ids for MAGEA1 Gene

Previous HGNC Symbols for MAGEA1 Gene

  • MAGE1

Previous GeneCards Identifiers for MAGEA1 Gene

  • GC0XM146635
  • GC0XM148952
  • GC0XM150043
  • GC0XM150912
  • GC0XM151965
  • GC0XM152134
  • GC0XM152481
  • GC0XM141141

Summaries for MAGEA1 Gene

Entrez Gene Summary for MAGEA1 Gene

  • This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008]

GeneCards Summary for MAGEA1 Gene

MAGEA1 (MAGE Family Member A1) is a Protein Coding gene. Diseases associated with MAGEA1 include Ocular Melanoma and Melanoma. Among its related pathways are Notch Signaling Pathway (WikiPathways). Gene Ontology (GO) annotations related to this gene include histone deacetylase binding. An important paralog of this gene is MAGEA4.

UniProtKB/Swiss-Prot Summary for MAGEA1 Gene

  • May be involved in transcriptional regulation through interaction with SNW1 and recruiting histone deactelyase HDAC1. May inhibit notch intracellular domain (NICD) transactivation. May play a role in embryonal development and tumor transformation or aspects of tumor progression. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes.

Gene Wiki entry for MAGEA1 Gene

Additional gene information for MAGEA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAGEA1 Gene

Genomics for MAGEA1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MAGEA1 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
GH0XJ153179 Promoter 1.1 EPDnew Ensembl 600.7 +0.3 316 0.8 ZNF740 NRF1 POLR2A ZBTB11 GABPA TFDP1 CREM SMAD5 VEZF1 ETV1 MAGEA1 NONHSAG055539.2 PNMA6A PNMA3 lnc-MAGEA1-2 ENSG00000235219 RF00017-8798 ENSG00000278803
GH0XJ153245 Enhancer 0.8 ENCODE 12.8 +66.2 66233 0.8 ZNF629 PRDM10 RFX1 IKZF1 JUND DDX20 POLR2A SOX6 ATF7 NONO PNMA6A MAGEA1 TMEM187 ENSG00000231600 LOC105373373 RF00017-8798 ENSG00000278803
GH0XJ153105 Enhancer 0.4 Ensembl 0.2 -72.7 -72683 2.4 PRDM10 ZSCAN4 NR2F1 PNMA6A PNMA3 PNMA6B HSALNG0140743-001 MAGEA1 RF00017-8798
GH0XJ153146 Enhancer 0.2 Ensembl 0.3 -32.6 -32583 0.2 LOC728307 piR-50968-149 MAGEA1 PNMA6A RF00017-8798
GH0XJ153072 Promoter 0.3 Ensembl 0.1 -106.8 -106783 1.4 PNMA6A PNMA6B MAGEA1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAGEA1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAGEA1

Top Transcription factor binding sites by QIAGEN in the MAGEA1 gene promoter:
  • CBF-C
  • CP1A
  • CP1C
  • MRF-2
  • NF-Y
  • NF-YA
  • NF-YB
  • NF-YC
  • Olf-1
  • Pbx1a

Genomic Locations for MAGEA1 Gene

Genomic Locations for MAGEA1 Gene
chrX:153,179,284-153,183,880
(GRCh38/hg38)
Size:
4,597 bases
Orientation:
Plus strand
chrX:152,481,522-152,486,116
(GRCh37/hg19)
Size:
4,595 bases
Orientation:
Minus strand

Genomic View for MAGEA1 Gene

Genes around MAGEA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAGEA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAGEA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAGEA1 Gene

Proteins for MAGEA1 Gene

  • Protein details for MAGEA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43355-MAGA1_HUMAN
    Recommended name:
    Melanoma-associated antigen 1
    Protein Accession:
    P43355
    Secondary Accessions:
    • B2RC81
    • O00346

    Protein attributes for MAGEA1 Gene

    Size:
    309 amino acids
    Molecular mass:
    34342 Da
    Quaternary structure:
    • Interacts with SNW1 and HDCA1.

    Three dimensional structures from OCA and Proteopedia for MAGEA1 Gene

neXtProt entry for MAGEA1 Gene

Post-translational modifications for MAGEA1 Gene

  • Ubiquitination at Lys105, Lys237, Lys247, and Lys278
  • Modification sites at PhosphoSitePlus

Other Protein References for MAGEA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAGEA1 Gene

Domains & Families for MAGEA1 Gene

Gene Families for MAGEA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MAGEA1 Gene

InterPro:
Blocks:
  • MAGE protein
ProtoNet:

Suggested Antigen Peptide Sequences for MAGEA1 Gene

GenScript: Design optimal peptide antigens:
  • Melanoma antigen family A 1 (A8IF97_HUMAN)
  • MAGE-1 antigen (MAGA1_HUMAN)
  • MAGE-1 protein (Q8WX99_HUMAN)
genes like me logo Genes that share domains with MAGEA1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MAGEA1 Gene

Function for MAGEA1 Gene

Molecular function for MAGEA1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in transcriptional regulation through interaction with SNW1 and recruiting histone deactelyase HDAC1. May inhibit notch intracellular domain (NICD) transactivation. May play a role in embryonal development and tumor transformation or aspects of tumor progression. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes.
GENATLAS Biochemistry:
melanoma antigen,family A,member 1,directing expression of antigen MZ2-E,expressed in melanoma,testis,advanced gastric carcinomas and hepatocellular carcinomas

Gene Ontology (GO) - Molecular Function for MAGEA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15316101
GO:0042826 histone deacetylase binding IDA 15316101
genes like me logo Genes that share ontologies with MAGEA1: view
genes like me logo Genes that share phenotypes with MAGEA1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAGEA1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MAGEA1 Gene

Localization for MAGEA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAGEA1 Gene

Cytoplasm. Nucleus.

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 MAGEA1 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 4
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)

Gene Ontology (GO) - Cellular Components for MAGEA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 15316101
GO:0005737 cytoplasm IEA,IDA 15316101
GO:0005886 plasma membrane TAS 1840703
genes like me logo Genes that share ontologies with MAGEA1: view

Pathways & Interactions for MAGEA1 Gene

PathCards logo

SuperPathways for MAGEA1 Gene

SuperPathway Contained pathways
1 Notch Signaling Pathway (WikiPathways)
genes like me logo Genes that share pathways with MAGEA1: view

Pathways by source for MAGEA1 Gene

1 BioSystems pathway for MAGEA1 Gene

Gene Ontology (GO) - Biological Process for MAGEA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 15316101
GO:0045746 negative regulation of Notch signaling pathway IDA 15316101
genes like me logo Genes that share ontologies with MAGEA1: view

No data available for SIGNOR curated interactions for MAGEA1 Gene

Drugs & Compounds for MAGEA1 Gene

(1) Drugs for MAGEA1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for MAGEA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MAGEA1: view

Transcripts for MAGEA1 Gene

mRNA/cDNA for MAGEA1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAGEA1

Alternative Splicing Database (ASD) splice patterns (SP) for MAGEA1 Gene

No ASD Table

Relevant External Links for MAGEA1 Gene

GeneLoc Exon Structure for
MAGEA1

Expression for MAGEA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAGEA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAGEA1 Gene

This gene is overexpressed in Testis (x49.7).

Protein differential expression in normal tissues from HIPED for MAGEA1 Gene

This gene is overexpressed in Neutrophil (23.5), Lung (22.6), and Bone (19.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MAGEA1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAGEA1

SOURCE GeneReport for Unigene cluster for MAGEA1 Gene:

Hs.72879

mRNA Expression by UniProt/SwissProt for MAGEA1 Gene:

P43355-MAGA1_HUMAN
Tissue specificity: Expressed in many tumors of several types, such as melanoma, head and neck squamous cell carcinoma, lung carcinoma and breast carcinoma, but not in normal tissues except for testes. Never expressed in kidney tumors, leukemias and lymphomas.

Evidence on tissue expression from TISSUES for MAGEA1 Gene

  • Blood(4.5)
  • Skin(4.4)
  • Lymph node(2.3)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with MAGEA1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAGEA1 Gene

Orthologs for MAGEA1 Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for MAGEA1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MAGEA1 30 31
  • 98.92 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Magea10 31
  • 41 (a)
ManyToMany
Magea5 31
  • 40 (a)
ManyToMany
Magea6 31
  • 39 (a)
ManyToMany
Magea8 31
  • 39 (a)
ManyToMany
1700080O16Rik 31
  • 39 (a)
ManyToMany
Magea4 31
  • 38 (a)
ManyToMany
Magea3 31
  • 38 (a)
ManyToMany
Magea2 31
  • 38 (a)
ManyToMany
Magea1 31
  • 38 (a)
ManyToMany
3830417A13Rik 31
  • 35 (a)
ManyToMany
Species where no ortholog for MAGEA1 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)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for MAGEA1 Gene

ENSEMBL:
Gene Tree for MAGEA1 (if available)
TreeFam:
Gene Tree for MAGEA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAGEA1: view image

Paralogs for MAGEA1 Gene

Variants for MAGEA1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAGEA1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
764055 Likely Benign: not provided 153,183,010(+) C/T SYNONYMOUS_VARIANT
VAR_036581 A breast cancer sample p.Lys278Thr
rs2008144 - p.Arg72Gln
rs2008160 - p.Thr32Ala
rs2233044 - p.Ala63Thr

Additional dbSNP identifiers (rs#s) for MAGEA1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MAGEA1 Gene

Variant ID Type Subtype PubMed ID
dgv2n30 CNV gain 18288195
esv33199 CNV gain+loss 17666407
nsv218 OTHER inversion 15895083

Variation tolerance for MAGEA1 Gene

Residual Variation Intolerance Score: 80.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.62; 13.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAGEA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAGEA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAGEA1 Gene

Disorders for MAGEA1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for MAGEA1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ocular melanoma
  • eye melanoma
melanoma
  • malignant melanoma
hemangioma of liver
  • angioma of liver
testicular cancer
  • childhood neoplasm of the testis
squamous cell carcinoma
  • epidermoid carcinoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MAGEA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MAGEA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAGEA1 Gene

Publications for MAGEA1 Gene

  1. [The genetic polymorphism of melanoma-associated antigen 1 in Chinese normal donors and hepatoma patients]. (PMID: 15059299) Wang LP … Wei L (Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology 2004) 3 4 23
  2. MAGE-1 gene product is a cytoplasmic protein. (PMID: 7927954) Schultz-Thater E … Spagnoli GC (International journal of cancer 1994) 3 4 23
  3. Human gene MAGE-3 codes for an antigen recognized on a melanoma by autologous cytolytic T lymphocytes. (PMID: 8113684) Gaugler B … Boon T (The Journal of experimental medicine 1994) 3 4 23
  4. A gene encoding an antigen recognized by cytolytic T lymphocytes on a human melanoma. (PMID: 1840703) van der Bruggen P … Boon T (Science (New York, N.Y.) 1991) 2 3 4
  5. The melanoma-associated antigen 1 (MAGEA1) protein stimulates the E3 ubiquitin-ligase activity of TRIM31 within a TRIM31-MAGEA1-NSE4 complex. (PMID: 25590999) Kozakova L … Palecek JJ (Cell cycle (Georgetown, Tex.) 2015) 2 3

Products for MAGEA1 Gene

Sources for MAGEA1 Gene