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

Gene ID: 9500, updated on 7-Oct-2018

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; Vega:OTTHUMG00000021540
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

Genomic context

See MAGED1 in Genome Data Viewer
Location:
Xp11.22
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (51802998..51902354)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (51546155..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 ubiquinol-cytochrome c reductase, complex III subunit X pseudogene 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Apoptosis, organism-specific biosystem (from REACTOME)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Caspase activation via extrinsic apoptotic signalling pathway, organism-specific biosystem (from REACTOME)
    Caspase activation via extrinsic apoptotic signalling pathway, organism-specific biosystemKnown as the "death receptor pathway" the extrinsic or caspase 8/10 dependent pathway is activated by ligand binding. The "death receptors" are specialized cell-surface receptors including Fas/CD95, ...
  • Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystem (from REACTOME)
    Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystemp75NTR is a key regulator of neuronal apoptosis, both during development and after injury. Apoptosis is triggered by binding of either mature neurotrophin or proneurotrophin (proNGF, proBDNF). ProNG...
  • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
    Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
  • Ligand-independent caspase activation via DCC, organism-specific biosystem (from REACTOME)
    Ligand-independent caspase activation via DCC, organism-specific biosystemIn the presence of Netrin1, DCC and UNC5 generate attractive and repulsive signals to growing axons. In the absence of Netrin-1, DCC induces cell death signaling initiated via caspase cleavage of DCC...
  • NRAGE signals death through JNK, organism-specific biosystem (from REACTOME)
    NRAGE signals death through JNK, organism-specific biosystemOnce bound by either NGF or proNGF, p75NTR interacts with NRAGE, thus leading to phosphorylation and activation of JUN Kinase (JNK). JNK controls apoptosis in two ways: it induces transcription of pr...
  • Neurotrophic factor-mediated Trk receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
    Neurotrophic factor-mediated Trk receptor signaling, organism-specific biosystem
    Neurotrophic factor-mediated Trk receptor signaling
  • Neurotrophin signaling pathway, organism-specific biosystem (from KEGG)
    Neurotrophin signaling pathway, organism-specific biosystemNeurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic facto...
  • Neurotrophin signaling pathway, conserved biosystem (from KEGG)
    Neurotrophin signaling pathway, conserved biosystemNeurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic facto...
  • Programmed Cell Death, organism-specific biosystem (from REACTOME)
    Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signalling by NGF, organism-specific biosystem (from REACTOME)
    Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
  • p75 NTR receptor-mediated signalling, organism-specific biosystem (from REACTOME)
    p75 NTR receptor-mediated signalling, organism-specific biosystemBesides signalling through the tyrosine kinase receptors TRK A, B, and C, the mature neurotrophins NGF, BDNF, and NT3/4 signal through their common receptor p75NTR. NGF binding to p75NTR activates a ...
  • p75(NTR)-mediated signaling, organism-specific biosystem (from Pathway Interaction Database)
    p75(NTR)-mediated signaling, organism-specific biosystem
    p75(NTR)-mediated signaling

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
circadian regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of epithelial cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
positive regulation of MAP kinase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of branching involved in ureteric bud morphogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic process TAS
Traceable Author Statement
more info
PubMed 
regulation of circadian rhythm IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
chromatin ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
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)

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_012559.1 RefSeqGene

    Range
    5001..104296
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001005332.1NP_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)
    AF132205, BC014070, BG819042
    Consensus CDS
    CCDS14337.1
    UniProtKB/Swiss-Prot
    Q9Y5V3
    Related
    ENSP00000364927.3, OTTHUMP00000023303, ENST00000375772.7, OTTHUMT00000056590
    Conserved Domains (3) summary
    pfam01454
    Location:478638
    MAGE; MAGE family
    cl25887
    Location:309548
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cl26386
    Location:39334
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  2. NM_001005333.1NP_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)
    AF132205, BC014070, BX422007
    Consensus CDS
    CCDS35279.1
    UniProtKB/Swiss-Prot
    Q9Y5V3
    Related
    ENSP00000364847.2, OTTHUMP00000023304, ENST00000375695.2, OTTHUMT00000056591
    Conserved Domains (1) summary
    pfam01454
    Location:534694
    MAGE; MAGE family
  3. NM_006986.3NP_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)
    AF132205, BC014070, BF529661, BX422007, CD387872
    Consensus CDS
    CCDS14337.1
    UniProtKB/Swiss-Prot
    Q9Y5V3
    Related
    ENSP00000325333.7, OTTHUMP00000023302, ENST00000326587.11, OTTHUMT00000056589
    Conserved Domains (3) summary
    pfam01454
    Location:478638
    MAGE; MAGE family
    cl25887
    Location:309548
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cl26386
    Location:39334
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    51802998..51902354
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530835.2XP_011529137.1  melanoma-associated antigen D1 isoform X1

    See identical proteins and their annotated locations for XP_011529137.1

    UniProtKB/Swiss-Prot
    Q9Y5V3
    Conserved Domains (3) summary
    pfam01454
    Location:478638
    MAGE; MAGE family
    cl25887
    Location:309548
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cl26386
    Location:39334
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  2. XM_017029979.1XP_016885468.1  melanoma-associated antigen D1 isoform X1

    UniProtKB/Swiss-Prot
    Q9Y5V3
    Conserved Domains (3) summary
    pfam01454
    Location:478638
    MAGE; MAGE family
    cl25887
    Location:309548
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cl26386
    Location:39334
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  3. XM_017029980.1XP_016885469.1  melanoma-associated antigen D1 isoform X1

    UniProtKB/Swiss-Prot
    Q9Y5V3
    Conserved Domains (3) summary
    pfam01454
    Location:478638
    MAGE; MAGE family
    cl25887
    Location:309548
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cl26386
    Location:39334
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  4. XM_017029978.1XP_016885467.1  melanoma-associated antigen D1 isoform X1

    UniProtKB/Swiss-Prot
    Q9Y5V3
    Conserved Domains (3) summary
    pfam01454
    Location:478638
    MAGE; MAGE family
    cl25887
    Location:309548
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cl26386
    Location:39334
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
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