Human Gene MAGED1 (ENST00000375695.2) from GENCODE V44
Description: Homo sapiens MAGE family member D1 (MAGED1), transcript variant 1, mRNA. (from RefSeq NM_001005333) RefSeq Summary (NM_001005333): 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]. Gencode Transcript: ENST00000375695.2 Gencode Gene: ENSG00000179222.18 Transcript (Including UTRs) Position: hg38 chrX:51,893,639-51,902,354 Size: 8,716 Total Exon Count: 14 Strand: + Coding Region Position: hg38 chrX:51,894,305-51,901,930 Size: 7,626 Coding Exon Count: 12
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;
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.
ModBase Predicted Comparative 3D Structure on Q9Y5V3
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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.
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
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