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    MAGED1 MAGE family member D1 [ Homo sapiens (human) ]

    Gene ID: 9500, updated on 9-Dec-2024

    Summary

    Official Symbol
    MAGED1provided by HGNC
    Official Full Name
    MAGE family member D1provided by HGNC
    Primary source
    HGNC:HGNC:6813
    See related
    Ensembl:ENSG00000179222 MIM:300224; AllianceGenome:HGNC:6813
    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
    NRAGE; DLXIN-1
    Summary
    This gene is a member of the melanoma antigen gene (MAGE) family. Most of the genes of this family encode tumor specific antigens that are not expressed in normal adult tissues except testis. Although the protein encoded by this gene shares strong homology with members of the MAGE family, it is expressed in almost all normal adult tissues. This gene has been demonstrated to be involved in the p75 neurotrophin receptor mediated programmed cell death pathway. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 56.4), placenta (RPKM 55.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MAGED1 in Genome Data Viewer
    Location:
    Xp11.22
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (51803076..51902354)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (51074768..51174050)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (51546172..51645450)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene centromere protein V like 1 Neighboring gene G1 to S phase transition 2 Neighboring gene zinc finger protein 852 pseudogene Neighboring gene RNA, U6 small nuclear 504, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29642 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:51666077-51667276 Neighboring gene UQCR10 pseudogene 1 Neighboring gene importin 7 pseudogene 1

    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?

    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 identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription coactivator activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    melanoma-associated antigen D1
    Names
    MAGE tumor antigen CCF
    MAGE-D1 antigen
    melanoma antigen family D, 1
    melanoma antigen family D1
    neurotrophin receptor-interacting MAGE homolog

    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_012559.2 RefSeqGene

      Range
      95565..104296
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001005332.2NP_001005332.1  melanoma-associated antigen D1 isoform b

      See identical proteins and their annotated locations for NP_001005332.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame coding exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 both encode isoform b.
      Source sequence(s)
      BC014070, BG819042
      Consensus CDS
      CCDS14337.1
      UniProtKB/Swiss-Prot
      Q5VSH6, Q8IZ84, Q8WY92, Q9H352, Q9HBT4, Q9UF36, Q9Y5V3
      Related
      ENSP00000364927.3, ENST00000375772.7
      Conserved Domains (3) summary
      TIGR01628
      Location:309548
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      PRK07003
      Location:39334
      PRK07003; DNA polymerase III subunit gamma/tau
      pfam01454
      Location:478638
      MAGE; MAGE family
    2. NM_001005333.2NP_001005333.1  melanoma-associated antigen D1 isoform a

      See identical proteins and their annotated locations for NP_001005333.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      BC014070, BX422007
      Consensus CDS
      CCDS35279.1
      Related
      ENSP00000364847.2, ENST00000375695.2
      Conserved Domains (1) summary
      pfam01454
      Location:534694
      MAGE; MAGE family
    3. NM_006986.4NP_008917.3  melanoma-associated antigen D1 isoform b

      See identical proteins and their annotated locations for NP_008917.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame coding exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 both encode isoform b.
      Source sequence(s)
      BC014070, BF529661
      Consensus CDS
      CCDS14337.1
      UniProtKB/Swiss-Prot
      Q5VSH6, Q8IZ84, Q8WY92, Q9H352, Q9HBT4, Q9UF36, Q9Y5V3
      Related
      ENSP00000325333.8, ENST00000326587.12
      Conserved Domains (3) summary
      TIGR01628
      Location:309548
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      PRK07003
      Location:39334
      PRK07003; DNA polymerase III subunit gamma/tau
      pfam01454
      Location:478638
      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
      51803076..51902354
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530835.3XP_011529137.1  melanoma-associated antigen D1 isoform X1

      See identical proteins and their annotated locations for XP_011529137.1

      UniProtKB/Swiss-Prot
      Q5VSH6, Q8IZ84, Q8WY92, Q9H352, Q9HBT4, Q9UF36, Q9Y5V3
      Conserved Domains (3) summary
      TIGR01628
      Location:309548
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      PRK07003
      Location:39334
      PRK07003; DNA polymerase III subunit gamma/tau
      pfam01454
      Location:478638
      MAGE; MAGE family
    2. XM_047442676.1XP_047298632.1  melanoma-associated antigen D1 isoform X1

      UniProtKB/Swiss-Prot
      Q5VSH6, Q8IZ84, Q8WY92, Q9H352, Q9HBT4, Q9UF36, Q9Y5V3
    3. XM_047442677.1XP_047298633.1  melanoma-associated antigen D1 isoform X1

      UniProtKB/Swiss-Prot
      Q5VSH6, Q8IZ84, Q8WY92, Q9H352, Q9HBT4, Q9UF36, Q9Y5V3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      51074768..51174050
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328180.1XP_054184155.1  melanoma-associated antigen D1 isoform X1

      UniProtKB/Swiss-Prot
      Q5VSH6, Q8IZ84, Q8WY92, Q9H352, Q9HBT4, Q9UF36, Q9Y5V3
    2. XM_054328178.1XP_054184153.1  melanoma-associated antigen D1 isoform X1

      UniProtKB/Swiss-Prot
      Q5VSH6, Q8IZ84, Q8WY92, Q9H352, Q9HBT4, Q9UF36, Q9Y5V3
    3. XM_054328179.1XP_054184154.1  melanoma-associated antigen D1 isoform X1

      UniProtKB/Swiss-Prot
      Q5VSH6, Q8IZ84, Q8WY92, Q9H352, Q9HBT4, Q9UF36, Q9Y5V3