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

Gene ID: 9500, updated on 3-Nov-2024

Summary

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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
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Genomic context

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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

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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. MAGE-D1 inhibits proliferation, migration and invasion of human breast cancer cells. Du Q, et al. Oncol Rep, 2009 Sep. PMID 19639218
  2. Knockdown of NRAGE Impairs Homologous Recombination Repair and Sensitizes Hepatoblastoma Cells to Ionizing Radiation. Liu L, et al. Cancer Biother Radiopharm, 2020 Feb. PMID 31916845
  3. NRAGE is a potential diagnostic biomarker of hepatocellular carcinoma. Zou W, et al. Medicine (Baltimore), 2018 Nov. PMID 30508943, Free PMC Article
  4. NRAGE confers poor prognosis and promotes proliferation, invasion, and chemoresistance in gastric cancer. Jiang X, et al. Gene, 2018 Aug 20. PMID 29778424
  5. The role of NRAGE subcellular location and epithelial-mesenchymal transition on radiation resistance of esophageal carcinoma cell. Chang X, et al. J Cancer Res Ther, 2018 Jan. PMID 29516958

See all (167) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Knockdown of NRAGE Impairs Homologous Recombination Repair and Sensitizes Hepatoblastoma Cells to Ionizing Radiation.
    Title: Knockdown of NRAGE Impairs Homologous Recombination Repair and Sensitizes Hepatoblastoma Cells to Ionizing Radiation.
  2. NRAGE is significantly upregulated in patients with Hepatocellular Carcinoma. It could possibly be a novel diagnostic biomarker for HCC early detection.
    Title: NRAGE is a potential diagnostic biomarker of hepatocellular carcinoma.
  3. Our results indicate that NRAGE subcellular localization is related to radiation resistance of esophageal carcinoma cell and EMT may be involved in NRAGE subcellular location.
    Title: The role of NRAGE subcellular location and epithelial-mesenchymal transition on radiation resistance of esophageal carcinoma cell.
  4. NRAGE upregulation was correlated with advanced TNM stage, local invasion, and poor survival. Importantly, NRAGE could serve as an independent prognostic factor in patients with gastric cancer.
    Title: NRAGE confers poor prognosis and promotes proliferation, invasion, and chemoresistance in gastric cancer.
  5. The nuclear localized NRAGE interacts with RNF8 and BARD1 to mediate the resistance of esophageal carcinomas cells against DNA-damaging agents.
    Title: NRAGE is involved in homologous recombination repair to resist the DNA-damaging chemotherapy and composes a ternary complex with RNF8-BARD1 to promote cell survival in squamous esophageal tumorigenesis.
  6. these results demonstrate the effective anti-autophagic of NRAGE in non-small-cell lung cancer cells through AMPK/Ulk1/Atg13 autophagy signaling pathways. Therefore, NRAGE could be used as a potential therapeutic target for lung cancer.
    Title: Silencing of NRAGE induces autophagy via AMPK/Ulk1/Atg13 signaling pathway in NSCLC cells.
  7. MAGED1 binds and positively regulates the transcriptional activity of family members SIM1, SIM2, NPAS4 and ARNT2, but does not interact with AhR, HIF1alpha and ARNT. This interaction is mediated by PAS repeat regions which also form the interface for bHLH PAS dimerisation, and accordingly MAGED1 is not found in complex with bHLH PAS dimers.
    Title: MAGED1 is a novel regulator of a select subset of bHLH PAS transcription factors.
  8. our surprise, NRAGE induces nuclear localization of beta-catenin and increases its DNA binding ability. Further studies reveal that NRAGE leads to the modification of beta-catenin/Arm with O-linked beta-N-acetylglucosamine (O-GlcNAc), and failure of the association between beta-catenin/Arm and pygopus(pygo) protein, which is required for transcriptional activation of Wnt target genes. Therefore, our findings suggest a ...
    Title: NRAGE induces β-catenin/Arm O-GlcNAcylation and negatively regulates Wnt signaling.
  9. Loss of GSPT2 and/or MAGED1 function may contribute to the intellectual disability.
    Title: Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.
  10. The ectopic subcellular localization of NRAGE mediated nuclear translocation of beta-catenin.
    Title: Identification of novel NRAGE involved in the radioresistance of esophageal cancer cells.
Submit: New GeneRIF Correction See all GeneRIFs (28)

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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
  
Process Evidence Code Pubs
involved_in circadian regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of epithelial cell proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of protein localization to nucleus IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of MAP kinase activity IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of branching involved in ureteric bud morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization to nucleus IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of DNA-templated transcription TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of apoptotic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of circadian rhythm 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

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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)

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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_012559.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001005332.2 → NP_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:309 → 548
    PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
    PRK07003
    Location:39 → 334
    PRK07003; DNA polymerase III subunit gamma/tau
    pfam01454
    Location:478 → 638
    MAGE; MAGE family

  2. NM_001005333.2 → NP_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:534 → 694
    MAGE; MAGE family

  3. NM_006986.4 → NP_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:309 → 548
    PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
    PRK07003
    Location:39 → 334
    PRK07003; DNA polymerase III subunit gamma/tau
    pfam01454
    Location:478 → 638
    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_011530835.3 → XP_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:309 → 548
    PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
    PRK07003
    Location:39 → 334
    PRK07003; DNA polymerase III subunit gamma/tau
    pfam01454
    Location:478 → 638
    MAGE; MAGE family

  2. XM_047442676.1 → XP_047298632.1  melanoma-associated antigen D1 isoform X1

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

  3. XM_047442677.1 → XP_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_054328180.1 → XP_054184155.1  melanoma-associated antigen D1 isoform X1

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

  2. XM_054328178.1 → XP_054184153.1  melanoma-associated antigen D1 isoform X1

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

  3. XM_054328179.1 → XP_054184154.1  melanoma-associated antigen D1 isoform X1

    UniProtKB/Swiss-Prot
    Q5VSH6, Q8IZ84, Q8WY92, Q9H352, Q9HBT4, Q9UF36, Q9Y5V3
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y5V3.3 GenPept UniProtKB/Swiss-Prot:Q9Y5V3

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