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    MAGEA3 MAGE family member A3 [ Homo sapiens (human) ]

    Gene ID: 4102, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MAGEA3provided by HGNC
    Official Full Name
    MAGE family member A3provided by HGNC
    Primary source
    HGNC:HGNC:6801
    See related
    Ensembl:ENSG00000221867 MIM:300174; AllianceGenome:HGNC:6801
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HIP8; HYPD; CT1.3; MAGE3; MAGEA6
    Summary
    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]
    Expression
    Restricted expression toward testis (RPKM 4.8) See more
    Orthologs
    all
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    Genomic context

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    See MAGEA3 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (152698794..152702347)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (150965367..150968920)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (151867272..151870825)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene MAGEA3 divergent transcript Neighboring gene gamma-aminobutyric acid type A receptor subunit theta Neighboring gene MAGE family member A4 pseudogene Neighboring gene uncharacterized LOC124905224 Neighboring gene CSAG family member 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Evaluation of melanoma antigen gene A3 expression in drug resistance of epidermal growth factor receptor-tyrosine kinase inhibitors in advanced nonsmall cell lung cancer treatment. Jin J, et al. J Cancer Res Ther, 2015 Nov. PMID 26612451
    2. Endosomal proteases influence the repertoire of MAGE-A3 epitopes recognized in vivo by CD4+ T cells. Marturano J, et al. Cancer Res, 2008 Mar 1. PMID 18316621
    3. Treatment of Patients With Metastatic Cancer Using a Major Histocompatibility Complex Class II-Restricted T-Cell Receptor Targeting the Cancer Germline Antigen MAGE-A3. Lu YC, et al. J Clin Oncol, 2017 Oct 10. PMID 28809608, Free PMC Article
    4. Fibroblast growth factor 2 and estrogen control the balance of histone 3 modifications targeting MAGE-A3 in pituitary neoplasia. Zhu X, et al. Clin Cancer Res, 2008 Apr 1. PMID 18381936
    5. Expression of the melanoma-associated antigen is associated with progression of human thyroid cancer. Cheng S, et al. Endocr Relat Cancer, 2009 Jun. PMID 19261683

    See all (103) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MAGE-A3 regulates tumor stemness in gastric cancer through the PI3K/AKT pathway.
      Title: MAGE-A3 regulates tumor stemness in gastric cancer through the PI3K/AKT pathway.
    2. MAGEA3 serves as an independent indicator for predicting the prognosis of ESCC.
      Title: MAGEA3 serves as an independent indicator for predicting the prognosis of ESCC.
    3. Re-examination of MAGE-A3 as a T-cell Therapeutic Target.
      Title: Re-examination of MAGE-A3 as a T-cell Therapeutic Target.
    4. Transcriptomic characterization of cancer-testis antigens identifies MAGEA3 as a driver of tumor progression in hepatocellular carcinoma.
      Title: Transcriptomic characterization of cancer-testis antigens identifies MAGEA3 as a driver of tumor progression in hepatocellular carcinoma.
    5. IGF2BP1 is the first positive marker for anaplastic thyroid carcinoma diagnosis.
      Title: IGF2BP1 is the first positive marker for anaplastic thyroid carcinoma diagnosis.
    6. Immunological and functional aspects of MAGEA3 cancer/testis antigen.
      Title: Immunological and functional aspects of MAGEA3 cancer/testis antigen.
    7. Nuclear overexpression levels of MAGE-A3 predict poor prognosis in patients with prostate cancer.
      Title: Nuclear overexpression levels of MAGE-A3 predict poor prognosis in patients with prostate cancer.
    8. LncRNA ST8SIA6-AS1 promotes hepatocellular carcinoma progression by regulating MAGEA3 and DCAF4L2 expression.
      Title: LncRNA ST8SIA6-AS1 promotes hepatocellular carcinoma progression by regulating MAGEA3 and DCAF4L2 expression.
    9. MAGE-A3 is a prognostic biomarker for poor clinical outcome in cutaneous squamous cell carcinoma with perineural invasion via modulation of cell proliferation.
      Title: MAGE-A3 is a prognostic biomarker for poor clinical outcome in cutaneous squamous cell carcinoma with perineural invasion via modulation of cell proliferation.
    10. Aberrantly enhanced melanoma-associated antigen (MAGE)-A3 expression facilitates cervical cancer cell proliferation and metastasis via actuating Wnt signaling pathway.
      Title: Aberrantly enhanced melanoma-associated antigen (MAGE)-A3 expression facilitates cervical cancer cell proliferation and metastasis via actuating Wnt signaling pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (76)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of melanoma antigen family A, 3 (MAGEA3) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC14613

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables caspase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone deacetylase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of autophagy IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of protein processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    melanoma-associated antigen 3
    Names
    MAGE-3 antigen
    antigen MZ2-D
    cancer/testis antigen 1.3
    cancer/testis antigen family 1, member 3
    melanoma antigen family A, 3
    melanoma antigen family A3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013244.2 RefSeqGene

      Range
      5002..8555
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005362.4 → NP_005353.1  melanoma-associated antigen 3

      See identical proteins and their annotated locations for NP_005353.1

      Status: REVIEWED

      Source sequence(s)
      AC244102
      Consensus CDS
      CCDS76045.1
      UniProtKB/Swiss-Prot
      P43357, Q6FHI6
      UniProtKB/TrEMBL
      Q53EX0
      Related
      ENSP00000359301.3, ENST00000370278.4
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 280
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      152698794..152702347
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724818.3 → XP_006724881.1  melanoma-associated antigen 3 isoform X1

      See identical proteins and their annotated locations for XP_006724881.1

      UniProtKB/Swiss-Prot
      P43357, Q6FHI6
      UniProtKB/TrEMBL
      Q53EX0
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 280
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    2. XM_011531160.4 → XP_011529462.1  melanoma-associated antigen 3 isoform X1

      See identical proteins and their annotated locations for XP_011529462.1

      UniProtKB/Swiss-Prot
      P43357, Q6FHI6
      UniProtKB/TrEMBL
      Q53EX0
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 280
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    3. XM_005274676.4 → XP_005274733.1  melanoma-associated antigen 3 isoform X1

      See identical proteins and their annotated locations for XP_005274733.1

      UniProtKB/Swiss-Prot
      P43357, Q6FHI6
      UniProtKB/TrEMBL
      Q53EX0
      Related
      ENSP00000473093.1, ENST00000598245.2
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 280
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    4. XM_011531161.2 → XP_011529463.1  melanoma-associated antigen 3 isoform X1

      See identical proteins and their annotated locations for XP_011529463.1

      UniProtKB/Swiss-Prot
      P43357, Q6FHI6
      UniProtKB/TrEMBL
      Q53EX0
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 280
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791818.1 Reference GRCh38.p14 PATCHES

      Range
      381298..384860 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333339.1 → XP_054189314.1  melanoma-associated antigen 3 isoform X1

      UniProtKB/Swiss-Prot
      P43357, Q6FHI6

    2. XM_054333338.1 → XP_054189313.1  melanoma-associated antigen 3 isoform X1

      UniProtKB/Swiss-Prot
      P43357, Q6FHI6

    3. XM_054333337.1 → XP_054189312.1  melanoma-associated antigen 3 isoform X1

      UniProtKB/Swiss-Prot
      P43357, Q6FHI6

    4. XM_054333340.1 → XP_054189315.1  melanoma-associated antigen 3 isoform X1

      UniProtKB/Swiss-Prot
      P43357, Q6FHI6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      150965367..150968920
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327057.1 → XP_054183032.1  melanoma-associated antigen 3 isoform X1

      UniProtKB/Swiss-Prot
      A8IF93, P43360, Q6NW44
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43357.1 GenPept UniProtKB/Swiss-Prot:P43357

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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