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

Gene ID: 4100, updated on 23-Dec-2018

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
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

Genomic context

See MAGEA1 in Genome Data Viewer
Location:
Xq28
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (153179284..153183878)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (152481522..152486116, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene PNMA family member 6B (pseudogene) Neighboring gene PWWP domain containing 3B pseudogene Neighboring gene uncharacterized LOC105373373 Neighboring gene PWWP domain containing 3B pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Notch Signaling Pathway, organism-specific biosystemThe Notch pathway is an evolutionally conserved signaling pathway which plays an important role in diverse developmental and physiological processes. These include cell-fate determination, tissue pat...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC9326

Gene Ontology Provided by GOA

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 
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
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)

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

  1. NG_013243.1 RefSeqGene

    Range
    5001..9595
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004988.5NP_004979.3  melanoma-associated antigen 1

    See identical proteins and their annotated locations for NP_004979.3

    Status: REVIEWED

    Source sequence(s)
    AC236972, BC017555, BP314195, CA428506, DB053667
    Consensus CDS
    CCDS76051.1
    UniProtKB/Swiss-Prot
    P43355
    Related
    ENSP00000349085.5, ENST00000356661.6
    Conserved Domains (2) summary
    pfam01454
    Location:109273
    MAGE; MAGE family
    pfam12440
    Location:568
    MAGE_N; Melanoma associated antigen family N terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    153179284..153183878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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