Gene Gene information from NCBI Gene database.
Entrez ID 9500
Gene name MAGE family member D1
Gene symbol MAGED1
Synonyms (NCBI Gene)
DLXIN-1NRAGE
Chromosome X
Chromosome location Xp11.22
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 homolog
miRNA miRNA information provided by mirtarbase database.
187
miRTarBase ID miRNA Experiments Reference
MIRT042443 hsa-miR-424-5p CLASH 23622248
MIRT040341 hsa-miR-615-3p CLASH 23622248
MIRT038660 hsa-let-7g-3p CLASH 23622248
MIRT036791 hsa-miR-760 CLASH 23622248
MIRT1125718 hsa-miR-1251 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000785 Component Chromatin IEA
GO:0000785 Component Chromatin ISS
GO:0003713 Function Transcription coactivator activity IEA
GO:0005515 Function Protein binding IPI 15930293, 16000308, 20864041, 21516116, 24722188, 25416956, 25910212, 26871637, 31515488, 32296183, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300224 6813 ENSG00000179222
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y5V3
Protein name Melanoma-associated antigen D1 (MAGE tumor antigen CCF) (MAGE-D1 antigen) (Neurotrophin receptor-interacting MAGE homolog)
Protein function Involved in the apoptotic response after nerve growth factor (NGF) binding in neuronal cells. Inhibits cell cycle progression, and facilitates NGFR-mediated apoptosis. May act as a regulator of the function of DLX family members. May enhance ubi
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01454 MAGE 478 645 MAGE family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in bone marrow stromal cells from both multiple myeloma patients and healthy donors. Seems to be ubiquitously expressed.
Sequence
MAQKMDCGAGLLGFQAEASVEDSALLMQTLMEAIQISEAPPTNQATAAASPQSSQPPTAN
EMADIQVSAAAARPKSAFKVQNATTKGPNGVYDFSQAHNAKDVPNTQPKAAFKSQNATPK
GPNAAYDFSQAATTGELAANKSEMAFKAQNATTKVGPNATYNFSQSLNANDLANSRPKTP
FKAWNDTTKAPTADTQTQNVNQAKMATSQADIETDPGISEPDGATAQTSADGSQAQNLES
RTIIRGKRTRKINNLNVEENSSGDQRRAPLAAGTWRSAPVPVTTQNPPGAPPNVLWQTPL
AWQNPSGWQNQTARQTPPARQSPPARQTPPAWQNPVAWQNPVIWPNPVIWQNPVIWPNPI
VWPGPVVWPNPLAWQNPPGWQTPPGWQTPPGWQGPPDWQGPPDWPLPPDWPLPPDWPLPT
DWPLPPDWIPADWPIPPDWQNLRPSPNLRPSPNSRASQNPGAAQPRDVALLQERANKLVK
YLMLKDYTKVPIKRSEMLRDIIREYTDVYPEIIERACFVLEKKFGIQLKEIDKEEHLYIL
ISTPESLAGILGTTKDTPKLGLLLVILGVIFMNGNRASEAVLWEALRKMGLRPGVRHPLL
GDLRKLLTYEFVKQKYLDYRRVPNSNPPEYEFLWGLRSYHETSKM
KVLRFIAEVQKRDPR
DWTAQFMEAADEALDALDAAAAEAEARAEARTRMGIGDEAVSGPWSWDDIEFELLTWDEE
GDFGDPWSRIPFTFWARYHQNARSRFPQTFAGPIIGPGGTASANFAANFGAIGFFWVE
Sequence length 778
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Neurotrophin signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BELL'S PALSY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Anxiety Disorder BEFREE 22865874
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 22865874
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 22865874
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 31686349
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 21109781
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 15930293 Inhibit
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 22935435 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 15930293 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 22935435 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 32941982 Associate
★☆☆☆☆
Found in Text Mining only