MAGED1

Melanoma-associated antigen D1 is a protein that in humans is encoded by the MAGED1 gene.^[5][6]

MAGED1
Identifiers
Aliases	MAGED1, DLXIN-1, NRAGE, MAGE family member D1
External IDs	OMIM: 300224; MGI: 1930187; HomoloGene: 5077; GeneCards: MAGED1; OMA:MAGED1 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp11.22 Start 51,803,007 bp[1] End 51,902,354 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X C3|X 41.56 cM Start 93,579,080 bp[2] End 93,585,749 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone stromal cell of endometrium ganglionic eminence pituitary gland anterior pituitary tibia frontal pole middle temporal gyrus right adrenal cortex left adrenal cortex Top expressed in mandibular prominence median eminence maxillary prominence arcuate nucleus dorsomedial hypothalamic nucleus choroid plexus of fourth ventricle ventromedial nucleus islet of Langerhans Gonadal ridge hand More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transcription coactivator activity protein binding identical protein binding Cellular component cytoplasm nucleus membrane plasma membrane chromatin protein-containing complex Biological process rhythmic process regulation of circadian rhythm regulation of apoptotic process positive regulation of branching involved in ureteric bud morphogenesis regulation of transcription by RNA polymerase II positive regulation of apoptotic signaling pathway positive regulation of transcription, DNA-templated negative regulation of epithelial cell proliferation circadian regulation of gene expression regulation of transcription, DNA-templated positive regulation of MAP kinase activity negative regulation of transcription, DNA-templated Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9500 94275 Ensembl ENSG00000179222 ENSMUSG00000025151 UniProt Q9Y5V3 Q9QYH6 RefSeq (mRNA) NM_001005332 NM_001005333 NM_006986 NM_019791 RefSeq (protein) NP_001005332 NP_001005333 NP_008917 NP_062765 Location (UCSC) Chr X: 51.8 – 51.9 Mb Chr X: 93.58 – 93.59 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[6]

MAGED was found to be deleted in a group of children with an intellectual disability disorder caused by a Xp11.22 deletion.^[7]

Maged1 plays a role in controlling the reward circuitry in the brain of mice that is responsible for addictive behaviors.^[8] More recently, it has been shown to play a role in drug addiction through an epigenetic mechanism involving the monoubiquitination of H2A, which represses gene expression via interaction with the deubiquitinase USP7.^[9]

Interactions

MAGED1 has been shown to interact with UNC5A,^[10] PJA1,^[11] XIAP,^[12] and USP7.^[9]