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    MAGEH1 MAGE family member H1 [ Homo sapiens (human) ]

    Gene ID: 28986, updated on 17-Sep-2024

    Summary

    Official Symbol
    MAGEH1provided by HGNC
    Official Full Name
    MAGE family member H1provided by HGNC
    Primary source
    HGNC:HGNC:24092
    See related
    Ensembl:ENSG00000187601 MIM:300548; AllianceGenome:HGNC:24092
    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
    APR1; APR-1; MAGEH
    Summary
    This gene belongs to the non-CT (non cancer/testis) subgroup of the melanoma-associated antigen (MAGE) superfamily. The encoded protein is likely associated with apoptosis, cell cycle arrest, growth inhibition or cell differentiation. The protein may be involved in the atRA (all-trans retinoic acid) signaling through the STAT1-alpha (signal transducer and activator of transcription 1-alpha) pathway. [provided by RefSeq, Aug 2013]
    Orthologs
    NEW
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    Genomic context

    See MAGEH1 in Genome Data Viewer
    Location:
    Xp11.21
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (55452127..55453566)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (54745295..54746734)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (55478560..55479999)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene PAGE family member 5 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:55368751-55369252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29678 Neighboring gene microRNA 4536-1 Neighboring gene microRNA 4536-2 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:55514837-55515696 Neighboring gene uncharacterized LOC101928692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20867 Neighboring gene ubiquitin specific peptidase 51 Neighboring gene MAGE family member E1 pseudogene

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process TAS
    Traceable Author Statement
    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
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    melanoma-associated antigen H1
    Names
    apoptosis-related protein 1
    melanoma antigen family H, 1
    melanoma antigen family H1
    restin

    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_013248.1 RefSeqGene

      Range
      5023..6462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014061.5NP_054780.2  melanoma-associated antigen H1

      See identical proteins and their annotated locations for NP_054780.2

      Status: REVIEWED

      Source sequence(s)
      AA634056, AF143235
      Consensus CDS
      CCDS14369.1
      UniProtKB/Swiss-Prot
      B2R8V9, Q5JRJ3, Q9H213, Q9Y5M2
      Related
      ENSP00000343706.1, ENST00000342972.3
      Conserved Domains (1) summary
      pfam01454
      Location:62173
      MAGE; MAGE family

    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
      55452127..55453566
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      54745295..54746734
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)