MAGEA1 melanoma antigen family A, 1 (directs expression of antigen MZ2-E) [Homo sapiens] - Gene

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Summary

Official Symbol: MAGEA1provided by HGNC
Official Full Name: melanoma antigen family A, 1 (directs expression of antigen MZ2-E)provided by HGNC
Primary source: HGNC:6796
See related: Ensembl:ENSG00000198681; HPRD:02059; MIM:300016; Vega:OTTHUMG00000024192
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: CT1.1; MAGE1; MGC9326
Summary: This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: Xq28

Sequence :: Chromosome: X; NC_000023.10 (152481522..152486116, complement)

See MAGEA1 in Epigenomics, MapViewer

Chromosome X - NC_000023.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

High MAGE-1 is associated with differentiated advanced gastric cancer.
Title: Clinical significance of melanoma antigen-encoding gene-1 (MAGE-1) expression and its correlation with poor prognosis in differentiated advanced gastric cancer.
MAGE1 expression mediated by demethylation of MAGE1 promoter induce progression of non-small cell lung cancer.
Title: MAGE expressions mediated by demethylation of MAGE promoters induce progression of non-small cell lung cancer.
FGF receptor 2 is downregulated by genetic and epigenetic mechanisms to induce melanoma-associated antigen A in breast cancer
Title: Genetic and epigenetic mechanisms down-regulate FGF receptor 2 to induce melanoma-associated antigen A in breast cancer.
Observational study of gene-disease association. (HuGE Navigator)
Title: Frequent MAGE mutations in human melanoma.
CCL3 and CCL20-recruited dendritic cells modified by melanoma antigen gene-1 have a role in anti-tumor immunity against gastric cancer
Title: CCL3 and CCL20-recruited dendritic cells modified by melanoma antigen gene-1 induce anti-tumor immunity against gastric cancer ex vivo and in vivo.
Tumor-specific antigen MAGE may play a role in the occurrence and development of ovarian cancerc and can be used as one of the important indicators for early diagnosis, efficacy evaluation and prognostic determination of ovarian cancer.
Title: Expression of tumor-specific antigen MAGE, GAGE and BAGE in ovarian cancer tissues and cell lines.
MAGE-A peptides and HLA class I molecules are expressed in hepatocellular carcinoma
Title: Coexpression of MAGE-A peptides and HLA class I molecules in hepatocellular carcinoma.
The high expression rates of MAGE-1 and MAGE-3 genes in IHCC suggests the MAGE-1 and MAGE-3 gene may be a target for immunotherapy in IHCC patients.
Title: [Expression of melanoma antigen-1, 3 genes in human intrahepatic cholangiocarcinoma and its clinical significance].
Since 37% of patients with operable NSCLC harbored disseminated tumor cells that expressed MAGE-A, only these patients might benefit from adjuvant immunotherapies directed against MAGE-A1 to -A6.
Title: Expression of melanoma-antigen-A (MAGE-A) in disseminated tumor cells in regional lymph nodes of patients with operable non-small cell lung cancer.
The protective effect of the expression of the MAGE-A1 gene against tumoral progression of neuroblastoma is confirmed.
Title: MAGE-A1 expression is associated with good prognosis in neuroblastoma tumors.

Submit: New GeneRIF Correction See all (25)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
P43355	Q13547	HDAC1	HPRD	PubMed
P43355	P01891	HLA-A	HPRD	PubMed
P43355	P01889	HLA-B	HPRD	PubMed
P43355	Q9NR46	SH3GLB2	HPRD	PubMed
P43355	Q13573	SNW1	HPRD	PubMed
P43355	Q9BZY9	TRIM31	HPRD	PubMed
P43355	P14927	UQCRB	HPRD	PubMed
BioGRID:110274	BioGRID:109350	HLA-A	BioGRID	PubMed	Reconstituted Complex
BioGRID:110274	BioGRID:121234	SH3GLB2	BioGRID	PubMed	Two-hybrid
BioGRID:110274	BioGRID:119977	SMCR7L	BioGRID	PubMed	Two-hybrid
BioGRID:110274	BioGRID:116257	TRIM31	BioGRID	PubMed	Two-hybrid
BioGRID:110274	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110274	BioGRID:113227	UQCRB	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
histone deacetylase binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
negative regulation of Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
negative regulation of transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

Preferred Names: melanoma-associated antigen 1

Names: melanoma-associated antigen 1; antigen MZ2-E; MAGE-1 antigen; melanoma antigen MAGE-1; cancer/testis antigen 1.1; melanoma antigen family A 1; melanoma-associated antigen MZ2-E; cancer/testis antigen family 1, member 1

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NCBI Reference Sequences (RefSeq)

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_013243.1 RefSeqGene

Range

5001..9595

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004988.4 → NP_004979.3 melanoma-associated antigen 1

Status: REVIEWED

Source sequence(s)

BC017555, BP314195, CA428506, DB053667

Consensus CDS

CCDS14720.1

UniProtKB/Swiss-Prot

P43355

Related

ENSP00000349085, OTTHUMP00000025911, ENST00000356661, OTTHUMT00000060940

Conserved Domains (2) summary

pfam12440
Location:3 – 71
Blast Score: 168

MAGE_N; Melanoma associated antigen family N terminal

pfam01454
Location:109 – 279
Blast Score: 731

MAGE; MAGE family

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000023.10 Reference GRCh37.p5 Primary Assembly

Range

152481522..152486116, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000155.1 Alternate HuRef

Range

141141339..141145814, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC152005.1 (53202..57763)	None
genomic	CH471172.2	EAW72885.1
genomic	FB746165.1	CAT04602.1
genomic	M77481.1	AAA03229.1
mRNA	AF463515.1	AAL69948.1
mRNA	AK314979.1	BAG37478.1
mRNA	AY148486.1	AAN62752.1
mRNA	BC017555.1	AAH17555.1
mRNA	BP314195.1	None
mRNA	BT009789.1	AAP88791.1
mRNA	CA428506.1	None
mRNA	DB053667.1	None
mRNA	EU161102.1	ABW06861.1
other-genetic	DQ891149.2	ABM82075.1
other-genetic	DQ894329.2	ABM85255.1