MAGED1 MAGE family member D1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAGED1provided by HGNC
Official Full Name: MAGE family member D1provided by HGNC
Primary source: HGNC:HGNC:6813
See related: Ensembl:ENSG00000179222 MIM:300224; AllianceGenome:HGNC:6813
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NRAGE; DLXIN-1
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 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]
Expression: Ubiquitous expression in brain (RPKM 56.4), placenta (RPKM 55.0) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: Xp11.22

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (51803076..51902354)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (51074768..51174050)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (51546172..51645450)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Knockdown of NRAGE Impairs Homologous Recombination Repair and Sensitizes Hepatoblastoma Cells to Ionizing Radiation.
Title: Knockdown of NRAGE Impairs Homologous Recombination Repair and Sensitizes Hepatoblastoma Cells to Ionizing Radiation.
NRAGE is significantly upregulated in patients with Hepatocellular Carcinoma. It could possibly be a novel diagnostic biomarker for HCC early detection.
Title: NRAGE is a potential diagnostic biomarker of hepatocellular carcinoma.
Our results indicate that NRAGE subcellular localization is related to radiation resistance of esophageal carcinoma cell and EMT may be involved in NRAGE subcellular location.
Title: The role of NRAGE subcellular location and epithelial-mesenchymal transition on radiation resistance of esophageal carcinoma cell.
NRAGE upregulation was correlated with advanced TNM stage, local invasion, and poor survival. Importantly, NRAGE could serve as an independent prognostic factor in patients with gastric cancer.
Title: NRAGE confers poor prognosis and promotes proliferation, invasion, and chemoresistance in gastric cancer.
The nuclear localized NRAGE interacts with RNF8 and BARD1 to mediate the resistance of esophageal carcinomas cells against DNA-damaging agents.
Title: NRAGE is involved in homologous recombination repair to resist the DNA-damaging chemotherapy and composes a ternary complex with RNF8-BARD1 to promote cell survival in squamous esophageal tumorigenesis.
these results demonstrate the effective anti-autophagic of NRAGE in non-small-cell lung cancer cells through AMPK/Ulk1/Atg13 autophagy signaling pathways. Therefore, NRAGE could be used as a potential therapeutic target for lung cancer.
Title: Silencing of NRAGE induces autophagy via AMPK/Ulk1/Atg13 signaling pathway in NSCLC cells.
MAGED1 binds and positively regulates the transcriptional activity of family members SIM1, SIM2, NPAS4 and ARNT2, but does not interact with AhR, HIF1alpha and ARNT. This interaction is mediated by PAS repeat regions which also form the interface for bHLH PAS dimerisation, and accordingly MAGED1 is not found in complex with bHLH PAS dimers.
Title: MAGED1 is a novel regulator of a select subset of bHLH PAS transcription factors.
our surprise, NRAGE induces nuclear localization of beta-catenin and increases its DNA binding ability. Further studies reveal that NRAGE leads to the modification of beta-catenin/Arm with O-linked beta-N-acetylglucosamine (O-GlcNAc), and failure of the association between beta-catenin/Arm and pygopus(pygo) protein, which is required for transcriptional activation of Wnt target genes. Therefore, our findings suggest a ...
Title: NRAGE induces β-catenin/Arm O-GlcNAcylation and negatively regulates Wnt signaling.
Loss of GSPT2 and/or MAGED1 function may contribute to the intellectual disability.
Title: Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.
The ectopic subcellular localization of NRAGE mediated nuclear translocation of beta-catenin.
Title: Identification of novel NRAGE involved in the radioresistance of esophageal cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH122034 (e-PCR)
- UniSTS:134670

SHGC-58265 (e-PCR)
- UniSTS:53521

DXS7718 (e-PCR)
- UniSTS:39708

DXS1381 (e-PCR)
- UniSTS:99372

D8S2279 (e-PCR)
- UniSTS:473907

DXS1401 (e-PCR)
- UniSTS:99410

D10S16 (e-PCR)
- UniSTS:155756

D22S296 (e-PCR)
- UniSTS:147641

SHGC-132977 (e-PCR)
- UniSTS:170959

GDB:631802 (e-PCR)
- UniSTS:158429

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in circadian regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of epithelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein localization to nucleus	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of branching involved in ureteric bud morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in protein localization to nucleus	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	TAS Traceable Author Statement more info	PubMed
involved_in regulation of apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in regulation of circadian rhythm	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chromatin	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: melanoma-associated antigen D1

Names: MAGE tumor antigen CCF; MAGE-D1 antigen; melanoma antigen family D, 1; melanoma antigen family D1; neurotrophin receptor-interacting MAGE homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012559.2 RefSeqGene

Range

95565..104296

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001005332.2 → NP_001005332.1 melanoma-associated antigen D1 isoform b

See identical proteins and their annotated locations for NP_001005332.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame coding exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 both encode isoform b.

Source sequence(s)

BC014070, BG819042

Consensus CDS

CCDS14337.1

UniProtKB/Swiss-Prot

Q5VSH6, Q8IZ84, Q8WY92, Q9H352, Q9HBT4, Q9UF36, Q9Y5V3

Related

ENSP00000364927.3, ENST00000375772.7

Conserved Domains (3) summary

TIGR01628
Location:309 → 548

PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family

PRK07003
Location:39 → 334

PRK07003; DNA polymerase III subunit gamma/tau

pfam01454
Location:478 → 638

MAGE; MAGE family
NM_001005333.2 → NP_001005333.1 melanoma-associated antigen D1 isoform a

See identical proteins and their annotated locations for NP_001005333.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).

Source sequence(s)

BC014070, BX422007

Consensus CDS

CCDS35279.1

Related

ENSP00000364847.2, ENST00000375695.2

Conserved Domains (1) summary

pfam01454
Location:534 → 694

MAGE; MAGE family
NM_006986.4 → NP_008917.3 melanoma-associated antigen D1 isoform b

See identical proteins and their annotated locations for NP_008917.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame coding exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 both encode isoform b.

Source sequence(s)

BC014070, BF529661

Consensus CDS

CCDS14337.1

UniProtKB/Swiss-Prot

Q5VSH6, Q8IZ84, Q8WY92, Q9H352, Q9HBT4, Q9UF36, Q9Y5V3

Related

ENSP00000325333.8, ENST00000326587.12

Conserved Domains (3) summary

TIGR01628
Location:309 → 548

PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family

PRK07003
Location:39 → 334

PRK07003; DNA polymerase III subunit gamma/tau

pfam01454
Location:478 → 638

MAGE; MAGE family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

51803076..51902354

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011530835.3 → XP_011529137.1 melanoma-associated antigen D1 isoform X1

See identical proteins and their annotated locations for XP_011529137.1

UniProtKB/Swiss-Prot

Q5VSH6, Q8IZ84, Q8WY92, Q9H352, Q9HBT4, Q9UF36, Q9Y5V3

Conserved Domains (3) summary

TIGR01628
Location:309 → 548

PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family

PRK07003
Location:39 → 334

PRK07003; DNA polymerase III subunit gamma/tau

pfam01454
Location:478 → 638

MAGE; MAGE family
XM_047442676.1 → XP_047298632.1 melanoma-associated antigen D1 isoform X1

UniProtKB/Swiss-Prot

Q5VSH6, Q8IZ84, Q8WY92, Q9H352, Q9HBT4, Q9UF36, Q9Y5V3
XM_047442677.1 → XP_047298633.1 melanoma-associated antigen D1 isoform X1

UniProtKB/Swiss-Prot

Q5VSH6, Q8IZ84, Q8WY92, Q9H352, Q9HBT4, Q9UF36, Q9Y5V3