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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]
MAGED1 (MAGE Family Member D1) is a Protein Coding gene. Diseases associated with MAGED1 include Melanoma and Syndromic X-Linked Intellectual Disability. Among its related pathways are Signaling by GPCR and Development HGF signaling pathway. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity. An important paralog of this gene is MAGED4B.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH0XJ051891 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 250.2 | +91.3 | 91282 | 5.8 | POLR2A THAP11 SIN3A SAP130 GABPB1 KLF9 DMAP1 SP2 RBM22 TBP | HSALNG0137921 NONHSAG054492.2 MAGED1 RNU6-504P CENPVL1 RF00017-8440 MAGED4B | |
GH0XJ051802 | Promoter/Enhancer | 1.5 | Ensembl ENCODE CraniofacialAtlas | 250.7 | +0.9 | 945 | 2.9 | ZBTB10 ETS1 POLR2A ELF1 CTCF SIN3A GABPA HCFC1 VEZF1 ZEB2 | MAGED1 RNU6-504P CENPVL1 NUDT11 LOC100631242 MAGED4B | |
GH0XJ051771 | Enhancer | 0.2 | Ensembl | 12.5 | -31.4 | -31397 | 0.4 | GSPT2 MAGED1 piR-41405-173 piR-49097-113 | ||
GH0XJ051772 | Enhancer | 0.2 | Ensembl | 12.5 | -30.8 | -30798 | 0.4 | GSPT2 MAGED1 piR-41405-173 piR-49097-113 | ||
GH0XJ051742 | Promoter/Enhancer | 1.4 | Ensembl ENCODE CraniofacialAtlas | 0.2 | -58.7 | -58676 | 3.8 | POLR2A GABPA VEZF1 ZNF341 YY1 SMARCA5 ZBTB33 CBFB TAF1 HNF4A | GSPT2 lnc-CENPVL2-3 NUDT11 MAGED1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 15930293 |
GO:0042802 | identical protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | ISS | -- |
GO:0005634 | nucleus | ISS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | p75 NTR receptor-mediated signalling | ||
2 | Development HGF signaling pathway |
Development Neurotrophin family signaling
.44
|
|
3 | CDK-mediated phosphorylation and removal of Cdc6 |
.31
|
|
4 | Dimerization of procaspase-8 | ||
5 | Signaling by GPCR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | TAS | 15930293 |
GO:0032922 | circadian regulation of gene expression | ISS | -- |
GO:0042981 | regulation of apoptotic process | TAS | 15930293 |
GO:0048511 | rhythmic process | IEA | -- |
GO:0050680 | negative regulation of epithelial cell proliferation | IDA | 15930293 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d | · | 4e | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | · | 14c | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MAGED1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MAGED1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MAGED1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Maged1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Maged1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | MAGE 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | ndnl2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs138624949 | Benign: not provided | 51,896,717(+) |
G/A NM_006986.4(MAGED1):c.1062G>A (p.Val354=) |
SYNONYMOUS | |
rs1400404095 | Likely Benign: not provided | 51,896,549(+) |
G/A NM_006986.4(MAGED1):c.894G>A (p.Thr298=) |
SYNONYMOUS | |
rs142436276 | Benign: not provided | 51,901,900(+) |
T/C NM_006986.4(MAGED1):c.2307T>C (p.Phe769=) |
SYNONYMOUS | |
rs144656819 | Benign: not provided | 51,901,618(+) |
T/C NM_006986.4(MAGED1):c.2025T>C (p.Asp675=) |
SYNONYMOUS | |
rs145588024 | Benign: not provided | 51,894,750(+) |
G/A NM_006986.4(MAGED1):c.46-303G>A |
MISSENSE_VARIANT,INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2664331 | CNV | deletion | 23128226 |
esv3350872 | OTHER | inversion | 20981092 |
esv3558875 | CNV | deletion | 23714750 |
esv3573968 | CNV | loss | 25503493 |
nsv516643 | CNV | gain | 19592680 |
nsv6906 | CNV | deletion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
melanoma |
|
|
syndromic x-linked intellectual disability |
|
|