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    MAGEA5P MAGE family member A5, pseudogene [ Homo sapiens (human) ]

    Gene ID: 4104, updated on 14-Nov-2024

    Summary

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    Official Symbol
    MAGEA5Pprovided by HGNC
    Official Full Name
    MAGE family member A5, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:6803
    See related
    MIM:300340; AllianceGenome:HGNC:6803
    Gene type
    pseudo
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CT1.5; MAGE5; MAGEA4; MAGEA5
    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. This MAGEA gene is interpreted to be a pseudogene. Read-through transcription exists between this gene and the upstream melanoma antigen family A, 10 (MAGEA10) gene. [provided by RefSeq, Dec 2020]
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See MAGEA5P in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (152114049..152117939, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (150380137..150384022, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (151282521..151286411, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chrX:151154521-151154740 Neighboring gene gamma-aminobutyric acid type A receptor subunit epsilon Neighboring gene microRNA 452 Neighboring gene ribosomal protein SA pseudogene 60 Neighboring gene uncharacterized LOC105373369 Neighboring gene MAGEA10-MAGEA5 readthrough Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:151297273-151298472 Neighboring gene Sharpr-MPRA regulatory region 4801 Neighboring gene MAGE family member A10 Neighboring gene Sharpr-MPRA regulatory region 4725 Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha3 Neighboring gene RNA, U6 small nuclear 764, pseudogene

    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. Multiple cancer testis antigens function to support tumor cell mitotic fidelity. Cappell KM, et al. Mol Cell Biol, 2012 Oct. PMID 22869527, Free PMC Article
    2. Quantitative evaluation of the expression of MAGE genes in tumors by limiting dilution of cDNA libraries. Serrano A, et al. Int J Cancer, 1999 Nov 26. PMID 10521804
    3. MAGE A1-A6 RT-PCR and MAGE A3 and p16 methylation analysis in induced sputum from patients with lung cancer and non-malignant lung diseases. Shin KC, et al. Oncol Rep, 2012 Apr. PMID 22134685, Free PMC Article
    4. Expression of melanoma-associated antigens in oral squamous cell carcinoma. Ries J, et al. J Oral Pathol Med, 2008 Feb. PMID 18197853
    5. The melanoma antigen gene (MAGE) family is clustered in the chromosomal band Xq28. Rogner UC, et al. Genomics, 1995 Oct 10. PMID 8575766

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Report MAGEA1-A6 expression in sputum suggests presence of lung cancer cells or precancerous cells.
      Title: MAGE A1-A6 RT-PCR and MAGE A3 and p16 methylation analysis in induced sputum from patients with lung cancer and non-malignant lung diseases.
    2. Multiple simultaneous detection of MAGE-A [subtypes] more specific and sensitive than detection of single MAGE-A antigen for the diagnostic and prognostic evaluation of oral squamous cell carcinoma
      Title: Expression of melanoma-associated antigens in oral squamous cell carcinoma.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Readthrough LOC100533997

    Readthrough gene: LOC100533997, Included gene: MAGEA10

    Other Names

    • MAGE family member A5
    • MAGE-5 antigen
    • MAGE-5a antigen
    • MAGE-5b antigen
    • cancer/testis antigen 1.5
    • cancer/testis antigen family 1, member 5
    • melanoma antigen family A, 5
    • melanoma antigen family A5
    • melanoma-associated antigen 5

    Clone Names

    • MGC129526

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in regulation of chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    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.

    RNA

    1. NR_171383.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AF274856

    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
      152114049..152117939 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      150380137..150384022 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_016417.1: Suppressed sequence

      Description
      NG_016417.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    2. NM_021049.4: Suppressed sequence

      Description
      NM_021049.4: This RefSeq was removed because it is now thought that this gene is a pseudogene.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43359.1 GenPept UniProtKB/Swiss-Prot:P43359

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials