Human Gene MAGED1 (ENST00000326587.12_11) from GENCODE V47lift37
  Description: MAGE family member D1, transcript variant 2 (from RefSeq NM_006986.4)
Gencode Transcript: ENST00000326587.12_11
Gencode Gene: ENSG00000179222.18_13
Transcript (Including UTRs)
   Position: hg19 chrX:51,636,719-51,645,450 Size: 8,732 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chrX:51,637,401-51,645,026 Size: 7,626 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:51,636,719-51,645,450)mRNA (may differ from genome)Protein (778 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MAGD1_HUMAN
DESCRIPTION: RecName: Full=Melanoma-associated antigen D1; AltName: Full=MAGE tumor antigen CCF; AltName: Full=MAGE-D1 antigen; AltName: Full=Neurotrophin receptor-interacting MAGE homolog;
FUNCTION: Involved in the apoptotic response after nerve growth factor (NGF) binding in neuronal cells. Binds NGFR/p75NTR and antagonizes its association with NTRK1/TrkA, inhibits cell cycle progression, and facilitates NGFR-mediated apoptosis. May act as a regulator of the function of DLX family members. May regulate TP53/p53 transcriptional activity and inhibit cell proliferation. Enhances TP53 phosphorylation and accumulation. May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex.
SUBUNIT: Interacts with DLX5, DLX7 and MSX2 and forms homomultimers. Interacts with UNC5A (By similarity). Interacts with the p75 neurotrophin receptor. Interacts with TRIM28 and PJA1.
INTERACTION: Q8NG27:PJA1; NbExp=4; IntAct=EBI-716006, EBI-714606;
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Cell membrane; Peripheral membrane protein (By similarity). Note=Expression shifts from the cytoplasm to the plasma membrane upon stimulation with NGF (By similarity).
TISSUE SPECIFICITY: Expressed in bone marrow stromal cells from both multiple myeloma patients and healthy donors. Seems to be ubiquitously expressed.
SIMILARITY: Contains 1 MAGE domain.
SEQUENCE CAUTION: Sequence=AAD31421.1; Type=Erroneous initiation; Sequence=AAG35551.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MAGED1
Diseases sorted by gene-association score: melanoma (22), syndromic x-linked intellectual disability (9), keratosis, seborrheic, somatic (7), esophageal cancer (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 78.46 RPKM in Pituitary
Total median expression: 1150.39 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -83.00169-0.491 Picture PostScript Text
3' UTR -45.10217-0.208 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002190 - MAGE

Pfam Domains:
PF01454 - MAGE family

ModBase Predicted Comparative 3D Structure on Q9Y5V3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0042802 identical protein binding

Biological Process:
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0032922 circadian regulation of gene expression
GO:0042752 regulation of circadian rhythm
GO:0042981 regulation of apoptotic process
GO:0043406 positive regulation of MAP kinase activity
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048511 rhythmic process
GO:0050680 negative regulation of epithelial cell proliferation
GO:0090190 positive regulation of branching involved in ureteric bud morphogenesis
GO:2001235 positive regulation of apoptotic signaling pathway

Cellular Component:
GO:0000785 chromatin
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  LF211575 - JP 2014500723-A/19078: Polycomb-Associated Non-Coding RNAs.
AF258554 - Homo sapiens PP2250 mRNA, complete cds.
BC014070 - Homo sapiens melanoma antigen family D, 1, mRNA (cDNA clone MGC:19900 IMAGE:4026470), complete cds.
AK314053 - Homo sapiens cDNA, FLJ94718.
AK074092 - Homo sapiens mRNA for FLJ00163 protein.
AF300328 - Homo sapiens MAGE tumor antigen CCF mRNA, complete cds.
AF217963 - Homo sapiens NRAGE mRNA, complete cds.
BC032473 - Homo sapiens melanoma antigen family D, 1, mRNA (cDNA clone MGC:40241 IMAGE:5216354), complete cds.
AB385153 - Synthetic construct DNA, clone: pF1KB5678, Homo sapiens MAGED1 gene for melanoma-associated antigen D1, complete cds, without stop codon, in Flexi system.
KJ892781 - Synthetic construct Homo sapiens clone ccsbBroadEn_02175 MAGED1 gene, encodes complete protein.
AF124440 - Homo sapiens MAGE tumor antigen D1 (MAGE-D1) mRNA, complete cds.
AL133628 - Homo sapiens mRNA; cDNA DKFZp434N0522 (from clone DKFZp434N0522); partial cds.
AF132205 - Homo sapiens PRO2292 mRNA, complete cds.
MA447152 - JP 2018138019-A/19078: Polycomb-Associated Non-Coding RNAs.
DL492573 - Novel nucleic acids.
AK308706 - Homo sapiens cDNA, FLJ98747.
AK298574 - Homo sapiens cDNA FLJ53080 complete cds, highly similar to Melanoma-associated antigen D1.
JD181020 - Sequence 162044 from Patent EP1572962.
JD419181 - Sequence 400205 from Patent EP1572962.
LF381481 - JP 2014500723-A/188984: Polycomb-Associated Non-Coding RNAs.
CU689386 - Synthetic construct Homo sapiens gateway clone IMAGE:100023258 5' read MAGED1 mRNA.
LF381478 - JP 2014500723-A/188981: Polycomb-Associated Non-Coding RNAs.
LF381477 - JP 2014500723-A/188980: Polycomb-Associated Non-Coding RNAs.
LF381475 - JP 2014500723-A/188978: Polycomb-Associated Non-Coding RNAs.
LF381473 - JP 2014500723-A/188976: Polycomb-Associated Non-Coding RNAs.
LF381471 - JP 2014500723-A/188974: Polycomb-Associated Non-Coding RNAs.
LF381468 - JP 2014500723-A/188971: Polycomb-Associated Non-Coding RNAs.
LF381466 - JP 2014500723-A/188969: Polycomb-Associated Non-Coding RNAs.
LF381464 - JP 2014500723-A/188967: Polycomb-Associated Non-Coding RNAs.
LF381463 - JP 2014500723-A/188966: Polycomb-Associated Non-Coding RNAs.
LF381462 - JP 2014500723-A/188965: Polycomb-Associated Non-Coding RNAs.
MA617058 - JP 2018138019-A/188984: Polycomb-Associated Non-Coding RNAs.
MA617055 - JP 2018138019-A/188981: Polycomb-Associated Non-Coding RNAs.
MA617054 - JP 2018138019-A/188980: Polycomb-Associated Non-Coding RNAs.
MA617052 - JP 2018138019-A/188978: Polycomb-Associated Non-Coding RNAs.
MA617050 - JP 2018138019-A/188976: Polycomb-Associated Non-Coding RNAs.
MA617048 - JP 2018138019-A/188974: Polycomb-Associated Non-Coding RNAs.
MA617045 - JP 2018138019-A/188971: Polycomb-Associated Non-Coding RNAs.
MA617043 - JP 2018138019-A/188969: Polycomb-Associated Non-Coding RNAs.
MA617041 - JP 2018138019-A/188967: Polycomb-Associated Non-Coding RNAs.
MA617040 - JP 2018138019-A/188966: Polycomb-Associated Non-Coding RNAs.
MA617039 - JP 2018138019-A/188965: Polycomb-Associated Non-Coding RNAs.
LF381461 - JP 2014500723-A/188964: Polycomb-Associated Non-Coding RNAs.
LF381460 - JP 2014500723-A/188963: Polycomb-Associated Non-Coding RNAs.
MA617038 - JP 2018138019-A/188964: Polycomb-Associated Non-Coding RNAs.
MA617037 - JP 2018138019-A/188963: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y5V3 (Reactome details) participates in the following event(s):

R-HSA-205115 NGF:p75NTR complex binds to NRAGE
R-HSA-374699 UNC5A binds NRAGE
R-HSA-204958 NRAGE sequesters CHE1 in the cytoplasm
R-HSA-205132 NRAGE activates JNK
R-HSA-193648 NRAGE signals death through JNK
R-HSA-418889 Ligand-independent caspase activation via DCC
R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADE
R-HSA-5357769 Caspase activation via extrinsic apoptotic signalling pathway
R-HSA-193704 p75 NTR receptor-mediated signalling
R-HSA-109581 Apoptosis
R-HSA-73887 Death Receptor Signalling
R-HSA-5357801 Programmed Cell Death
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000326587.1, ENST00000326587.10, ENST00000326587.11, ENST00000326587.2, ENST00000326587.3, ENST00000326587.4, ENST00000326587.5, ENST00000326587.6, ENST00000326587.7, ENST00000326587.8, ENST00000326587.9, MAGD1_HUMAN, NM_006986, NRAGE, PP2250, PRO2292, Q5VSH6, Q8IZ84, Q8WY92, Q9H352, Q9HBT4, Q9UF36, Q9Y5V3, uc317sca.1, uc317sca.2
UCSC ID: ENST00000326587.12_11
RefSeq Accession: NM_006986.4
Protein: Q9Y5V3 (aka MAGD1_HUMAN or MGD1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.