MAGEA1 MAGE family member A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAGEA1provided by HGNC
Official Full Name: MAGE family member A1provided by HGNC
Primary source: HGNC:HGNC:6796
See related: Ensembl:ENSG00000198681 MIM:300016; AllianceGenome:HGNC:6796
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
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]
Expression: Restricted expression toward testis (RPKM 3.3) See more
Orthologs: all
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Genomic context

Location:: Xq28

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (153179284..153183880)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (151483624..151488220, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (152481520..152486116, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Expression of MAGE A1 to MAGE A10 in the Forceps Biopsy and Bronchoalveolar Lavage Specimens from Patients with the Central Lung Tumor.
Title: Expression of MAGE A1 to MAGE A10 in the Forceps Biopsy and Bronchoalveolar Lavage Specimens from Patients with the Central Lung Tumor.
These data suggest that MAGE-A1 is a promising candidate marker for lung adenocarcinoma (LUAD) therapy and the MAGE-A1-specific CAR-T cell immunotherapy may be an effective strategy for the treatment of MAGE-A1-positive LUAD.
Title: MAGE-A1 in lung adenocarcinoma as a promising target of chimeric antigen receptor T cells.
MAGE-A1 was found in several lung cancer patients
Title: Overexpression of cancer-testis antigen melanoma-associated antigen A1 in lung cancer: A novel biomarker for prognosis, and a possible target for immunotherapy.
Tumor suppressive miR-6775-3p inhibits esophageal squamous cell carcinoma progression through forming a positive feedback loop with p53 via MAGE-A family proteins.
Title: Tumor suppressive miR-6775-3p inhibits ESCC progression through forming a positive feedback loop with p53 via MAGE-A family proteins.
GPC3, MAGE1 and 3 were increased with advanced tumor stage, size, and nodule numbers in Hepatocellular Carcinoma
Title: Glypican-3 and Melanoma Antigen Genes 1 and 3 as Tumor Markers for Hepatocellular Carcinoma.
The expression of MAGE-A genes in peripheral blood may act as a poor prognostic marker in patients with lung cancer.
Title: MAGE-A gene expression in peripheral blood serves as a poor prognostic marker for patients with lung cancer.
MAGE-A expression in blood or bone marrow at tumor surgery is an independent predictor of survival in resected non-small cell lung cancer
Title: A Threshold of Systemic MAGE-A Gene Expression Predicting Survival in Resected Non-Small Cell Lung Cancer.
Authors revealed a novel interaction between MAGEA1 and the intracellular segment of NOTCH1 receptor (NICD1). MAGEA1 reduced NICD1's stability by promoting the ubiquitin modification of NICD1.
Title: MAGEA1 interacts with FBXW7 and regulates ubiquitin ligase-mediated turnover of NICD1 in breast and ovarian cancer cells.
In patients with Colon cancer, the expression of MAGE-A(1-6) gene was associated with a poor prognosis.
Title: [Cancer-testis genes in colon cancer].
MAGEA1 was expression in 15% of synovial sarcomas and was not associated with prognosis.
Title: Cancer-testis antigen expression in synovial sarcoma: NY-ESO-1, PRAME, MAGEA4, and MAGEA1.

Submit: New GeneRIF Correction See all GeneRIFs (44)

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables histone deacetylase binding	IBA Inferred from Biological aspect of Ancestor more info
enables histone deacetylase binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: melanoma-associated antigen 1

Names: MAGE-1 antigen; antigen MZ2-E; cancer/testis antigen 1.1; cancer/testis antigen family 1, member 1; melanoma antigen MAGE-1; melanoma antigen family A 1; melanoma antigen family A, 1 (directs expression of antigen MZ2-E); melanoma antigen family A1; melanoma-associated antigen MZ2-E

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.