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MAGED4 MAGE family member D4 [ Homo sapiens (human) ]

Gene ID: 728239, updated on 23-Nov-2021

Summary

Official Symbol
MAGED4provided by HGNC
Official Full Name
MAGE family member D4provided by HGNC
Primary source
HGNC:HGNC:23793
See related
Ensembl:ENSG00000154545 MIM:300702
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MAGE1; MAGEE1; MAGE-D4; MAGE-E1
Annotation information
Note: There are two highly similar MAGED4 loci on the X chromosome, MAGED4 and MAGED4B. [04 Jan 2013]
Expression
Broad expression in brain (RPKM 36.4), endometrium (RPKM 15.3) and 14 other tissues See more
Orthologs
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Genomic context

See MAGED4 in Genome Data Viewer
Location:
Xp11.22
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (52184888..52192268)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (51927984..51935364)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377208 Neighboring gene uncharacterized LOC401589 Neighboring gene small nucleolar RNA, H/ACA box 11E Neighboring gene MAGE family member D4B Neighboring gene uncharacterized LOC105377209 Neighboring gene small nucleolar RNA, H/ACA box 11D Neighboring gene family with sequence similarity 156 member A 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 Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3210, FLJ39060, FLJ76324, KIAA1859, MGC74882

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
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
PubMed 

General protein information

Preferred Names
melanoma-associated antigen D4
Names
MAGE-D4 antigen
MAGE-E1 antigen
melanoma antigen family D, 4
melanoma antigen family D4

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.

mRNA and Protein(s)

  1. NM_001098800.3NP_001092270.1  melanoma-associated antigen D4 isoform 2

    See identical proteins and their annotated locations for NP_001092270.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks an alternate exon, and uses an alternate splice site in the 3' coding region, compared to variant 4. This results in a frameshift and an early stop codon. The encoded protein (isoform 2) is shorter and has a distinct C-terminus, compared to isoform 3. This transcript structure is inferred from aligning transcripts.
    Source sequence(s)
    AC245177, AK289458, BC063838
    Consensus CDS
    CCDS48116.1
    UniProtKB/Swiss-Prot
    Q96JG8
    Related
    ENSP00000364777.3, ENST00000375626.7
    Conserved Domains (2) summary
    pfam01454
    Location:420587
    MAGE; MAGE family
    pfam11321
    Location:250304
    DUF3123; Protein of unknown function (DUF3123)
  2. NM_001272061.2NP_001258990.1  melanoma-associated antigen D4 isoform 3

    See identical proteins and their annotated locations for NP_001258990.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (3). This transcript structure is inferred from aligning transcripts.
    Source sequence(s)
    AC245177, AK289458, BC063838
    Consensus CDS
    CCDS65261.1
    UniProtKB/Swiss-Prot
    Q96JG8
    Related
    ENSP00000472118.2, ENST00000599522.7
    Conserved Domains (2) summary
    pfam01454
    Location:420603
    MAGE; MAGE family
    pfam11321
    Location:250304
    DUF3123; Protein of unknown function (DUF3123)
  3. NM_001272062.2NP_001258991.1  melanoma-associated antigen D4 isoform 1

    See identical proteins and their annotated locations for NP_001258991.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate exon in the coding region, compared to variant 4. It encodes isoform 1, which is shorter than isoform 3. Variants 1 and 2 encode the same isoform (1). This transcript structure is inferred from aligning transcripts.
    Source sequence(s)
    AK289458, BC063838
    UniProtKB/Swiss-Prot
    Q96JG8
    UniProtKB/TrEMBL
    A0A024R2A8
    Related
    ENST00000498483.5
    Conserved Domains (2) summary
    pfam01454
    Location:420587
    MAGE; MAGE family
    pfam11321
    Location:250304
    DUF3123; Protein of unknown function (DUF3123)
  4. NM_001272063.2NP_001258992.1  melanoma-associated antigen D4 isoform 1

    See identical proteins and their annotated locations for NP_001258992.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR and lacks an alternate exon in the coding region, compared to variant 4. It encodes isoform 1, which is shorter than isoform 3. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AK289458, BC063838
    UniProtKB/Swiss-Prot
    Q96JG8
    UniProtKB/TrEMBL
    A0A024R2A8
    Related
    ENSP00000507908.1, ENST00000471932.6
    Conserved Domains (2) summary
    pfam01454
    Location:420587
    MAGE; MAGE family
    pfam11321
    Location:250304
    DUF3123; Protein of unknown function (DUF3123)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    52184888..52192268
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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