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MAGEA4 MAGE family member A4 [ Homo sapiens (human) ]

Gene ID: 4103, updated on 7-Apr-2024

Summary

Official Symbol
MAGEA4provided by HGNC
Official Full Name
MAGE family member A4provided by HGNC
Primary source
HGNC:HGNC:6802
See related
Ensembl:ENSG00000147381 MIM:300175; AllianceGenome:HGNC:6802
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
CT1.4; MAGE4; MAGE4A; MAGE4B; MAGE-41; MAGE-X2
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. Several variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020]
Expression
Restricted expression toward testis (RPKM 13.7) See more
Orthologs
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Genomic context

See MAGEA4 in Genome Data Viewer
Location:
Xq28
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (151912474..151925170)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (150180747..150191399)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (151080946..151093642)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene cyclic nucleotide gated channel subunit alpha 2 Neighboring gene NANOG hESC enhancer GRCh37_chrX:150993617-150994163 Neighboring gene MAGEA4 antisense RNA 1 Neighboring gene gamma-aminobutyric acid type A receptor subunit epsilon Neighboring gene microRNA 224 Neighboring gene microRNA 452

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 Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC21336

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables histone deacetylase binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
melanoma-associated antigen 4
Names
MAGE-4 antigen
MAGE-41 antigen
MAGE-X2 antigen
cancer/testis antigen 1.4
cancer/testis antigen family 1, member 4
melanoma antigen family A, 4
melanoma antigen family A4

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

  1. NG_013245.1 RefSeqGene

    Range
    5001..17282
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001011548.1NP_001011548.1  melanoma-associated antigen 4

    See identical proteins and their annotated locations for NP_001011548.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 5. All twelve variants encode the same protein.
    Source sequence(s)
    AF274855, BX479311
    Consensus CDS
    CCDS14702.1
    UniProtKB/Swiss-Prot
    P43358, Q14798
    UniProtKB/TrEMBL
    Q1RN33
    Related
    ENSP00000276344.2, ENST00000276344.6
    Conserved Domains (2) summary
    pfam01454
    Location:131281
    MAGE; MAGE family
    pfam12440
    Location:595
    MAGE_N; Melanoma associated antigen family N terminal
  2. NM_001011549.1NP_001011549.1  melanoma-associated antigen 4

    See identical proteins and their annotated locations for NP_001011549.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 5. All twelve variants encode the same protein.
    Source sequence(s)
    AF274855, BM548926
    Consensus CDS
    CCDS14702.1
    UniProtKB/Swiss-Prot
    P43358, Q14798
    UniProtKB/TrEMBL
    Q1RN33
    Related
    ENSP00000377497.1, ENST00000393920.6
    Conserved Domains (2) summary
    pfam01454
    Location:131281
    MAGE; MAGE family
    pfam12440
    Location:595
    MAGE_N; Melanoma associated antigen family N terminal
  3. NM_001011550.1NP_001011550.1  melanoma-associated antigen 4

    See identical proteins and their annotated locations for NP_001011550.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 5. All twelve variants encode the same protein.
    Source sequence(s)
    AF274855, CB120212
    Consensus CDS
    CCDS14702.1
    UniProtKB/Swiss-Prot
    P43358, Q14798
    UniProtKB/TrEMBL
    Q1RN33
    Related
    ENSP00000353379.2, ENST00000360243.6
    Conserved Domains (2) summary
    pfam01454
    Location:131281
    MAGE; MAGE family
    pfam12440
    Location:595
    MAGE_N; Melanoma associated antigen family N terminal
  4. NM_001386196.1NP_001373125.1  melanoma-associated antigen 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has the 5'-most exon compared to variants 1-4 and 6-12. All twelve variants encode the same protein.
    Source sequence(s)
    AF274855
    Consensus CDS
    CCDS14702.1
    UniProtKB/Swiss-Prot
    P43358, Q14798
    UniProtKB/TrEMBL
    Q1RN33
    Conserved Domains (2) summary
    pfam01454
    Location:131281
    MAGE; MAGE family
    pfam12440
    Location:595
    MAGE_N; Melanoma associated antigen family N terminal
  5. NM_001386197.1NP_001373126.1  melanoma-associated antigen 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 5. All twelve variants encode the same protein.
    Source sequence(s)
    AF274855
    Consensus CDS
    CCDS14702.1
    UniProtKB/Swiss-Prot
    P43358, Q14798
    UniProtKB/TrEMBL
    Q1RN33
    Conserved Domains (2) summary
    pfam01454
    Location:131281
    MAGE; MAGE family
    pfam12440
    Location:595
    MAGE_N; Melanoma associated antigen family N terminal
  6. NM_001386198.1NP_001373127.1  melanoma-associated antigen 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 5. All twelve variants encode the same protein.
    Source sequence(s)
    AF274855
    Consensus CDS
    CCDS14702.1
    UniProtKB/Swiss-Prot
    P43358, Q14798
    UniProtKB/TrEMBL
    Q1RN33
    Related
    ENSP00000359365.3, ENST00000370340.7
    Conserved Domains (2) summary
    pfam01454
    Location:131281
    MAGE; MAGE family
    pfam12440
    Location:595
    MAGE_N; Melanoma associated antigen family N terminal
  7. NM_001386199.1NP_001373128.1  melanoma-associated antigen 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 5. All twelve variants encode the same protein.
    Source sequence(s)
    AF274855
    Consensus CDS
    CCDS14702.1
    UniProtKB/Swiss-Prot
    P43358, Q14798
    UniProtKB/TrEMBL
    Q1RN33
    Conserved Domains (2) summary
    pfam01454
    Location:131281
    MAGE; MAGE family
    pfam12440
    Location:595
    MAGE_N; Melanoma associated antigen family N terminal
  8. NM_001386200.1NP_001373129.1  melanoma-associated antigen 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 5. All twelve variants encode the same protein.
    Source sequence(s)
    AF274855
    Consensus CDS
    CCDS14702.1
    UniProtKB/Swiss-Prot
    P43358, Q14798
    UniProtKB/TrEMBL
    Q1RN33
    Conserved Domains (2) summary
    pfam01454
    Location:131281
    MAGE; MAGE family
    pfam12440
    Location:595
    MAGE_N; Melanoma associated antigen family N terminal
  9. NM_001386202.1NP_001373131.1  melanoma-associated antigen 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) differs in the 5' UTR compared to variant 5. All twelve variants encode the same protein.
    Source sequence(s)
    AF274855
    Consensus CDS
    CCDS14702.1
    UniProtKB/Swiss-Prot
    P43358, Q14798
    UniProtKB/TrEMBL
    Q1RN33
    Related
    ENSP00000377498.1, ENST00000393921.6
    Conserved Domains (2) summary
    pfam01454
    Location:131281
    MAGE; MAGE family
    pfam12440
    Location:595
    MAGE_N; Melanoma associated antigen family N terminal
  10. NM_001386203.1NP_001373132.1  melanoma-associated antigen 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) differs in the 5' UTR compared to variant 5. All twelve variants encode the same protein.
    Source sequence(s)
    AF274855
    Consensus CDS
    CCDS14702.1
    UniProtKB/Swiss-Prot
    P43358, Q14798
    UniProtKB/TrEMBL
    Q1RN33
    Conserved Domains (2) summary
    pfam01454
    Location:131281
    MAGE; MAGE family
    pfam12440
    Location:595
    MAGE_N; Melanoma associated antigen family N terminal
  11. NM_002362.4NP_002353.3  melanoma-associated antigen 4

    See identical proteins and their annotated locations for NP_002353.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 5. All twelve variants encode the same protein.
    Source sequence(s)
    AF274855, BM562570
    Consensus CDS
    CCDS14702.1
    UniProtKB/Swiss-Prot
    P43358, Q14798
    UniProtKB/TrEMBL
    Q1RN33
    Related
    ENSP00000507023.1, ENST00000684668.1
    Conserved Domains (2) summary
    pfam01454
    Location:131281
    MAGE; MAGE family
    pfam12440
    Location:595
    MAGE_N; Melanoma associated antigen family N terminal

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

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    151912474..151925170
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    150180747..150191399
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327058.1XP_054183033.1  melanoma-associated antigen 4 isoform X1

    UniProtKB/Swiss-Prot
    P43358, Q14798