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    MAGEA1 MAGE family member A1 [ Homo sapiens (human) ]

    Gene ID: 4100, updated on 17-Jun-2024

    Summary

    Official Symbol
    MAGEA1provided by HGNC
    Official Full Name
    MAGE family member A1provided by HGNC
    Primary source
    HGNC:HGNC:6796
    See related
    Ensembl:ENSG00000198681 MIM:300016; AllianceGenome:HGNC:6796
    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
    CT1.1; MAGE1
    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 3.3) See more
    Orthologs
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    Genomic context

    See MAGEA1 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153179284..153183880)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (151483624..151488220, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (152481520..152486116, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905225 Neighboring gene PWWP domain containing 3B pseudogene Neighboring gene uncharacterized LOC105373373 Neighboring gene PWWP domain containing 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    melanoma-associated antigen 1
    Names
    MAGE-1 antigen
    antigen MZ2-E
    cancer/testis antigen 1.1
    cancer/testis antigen family 1, member 1
    melanoma antigen MAGE-1
    melanoma antigen family A 1
    melanoma antigen family A, 1 (directs expression of antigen MZ2-E)
    melanoma antigen family A1
    melanoma-associated antigen MZ2-E

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_013243.2 RefSeqGene

      Range
      5002..9598
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004988.5NP_004979.3  melanoma-associated antigen 1

      See identical proteins and their annotated locations for NP_004979.3

      Status: REVIEWED

      Source sequence(s)
      AC236972, BC017555, BP314195, CA428506, DB053667
      Consensus CDS
      CCDS76051.1
      UniProtKB/Swiss-Prot
      B2RC81, O00346, P43355
      Related
      ENSP00000349085.5, ENST00000356661.7
      Conserved Domains (2) summary
      pfam01454
      Location:109273
      MAGE; MAGE family
      pfam12440
      Location:568
      MAGE_N; Melanoma associated antigen family N terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      153179284..153183880
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      151483624..151488220 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)