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    MAGEB1 MAGE family member B1 [ Homo sapiens (human) ]

    Gene ID: 4112, updated on 17-Jun-2024

    Summary

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    Official Symbol
    MAGEB1provided by HGNC
    Official Full Name
    MAGE family member B1provided by HGNC
    Primary source
    HGNC:HGNC:6808
    See related
    Ensembl:ENSG00000214107 MIM:300097; AllianceGenome:HGNC:6808
    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
    CT3.1; DAM10; MAGEL1; MAGE-Xp
    Summary
    This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localized in the DSS (dosage-sensitive sex reversal) critical region, and expressed in testis and in a significant fraction of tumors of various histological types. This gene and other MAGEB members are clustered on chromosome Xp22-p21. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene, however, the full length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 11.0) See more
    Orthologs
    all
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    Genomic context

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    See MAGEB1 in Genome Data Viewer
    Location:
    Xp21.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (30243731..30252040)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (29836082..29844392)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (30261848..30270157)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:30232864-30234063 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:30236871-30237370 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:30237442-30238027 Neighboring gene MAGE family member B2 Neighboring gene NANOG hESC enhancer GRCh37_chrX:30246492-30247101 Neighboring gene MAGE family member B3 Neighboring gene NANOG hESC enhancer GRCh37_chrX:30259792-30260365 Neighboring gene MAGE family member B4 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:30274564-30274739 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:30300409-30300510 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:30301194-30302393 Neighboring gene CRISPRi-validated cis-regulatory element chrX.505 Neighboring gene phospholipase C epsilon 1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:30326716-30327216 Neighboring gene NR0B1 5' regulatory region Neighboring gene nuclear receptor subfamily 0 group B member 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Isolation and characterization of a MAGE gene family in the Xp21.3 region. Muscatelli F, et al. Proc Natl Acad Sci U S A, 1995 May 23. PMID 7761436, Free PMC Article
    2. Hypertonicity induction of melanoma antigen, a tumor-associated antigen. Park JH, et al. Mol Cells, 2002 Apr 30. PMID 12018852
    3. A family of rapidly evolving genes from the sex reversal critical region in Xp21. Dabovic B, et al. Mamm Genome, 1995 Sep. PMID 8535061
    4. Two members of the human MAGEB gene family located in Xp21.3 are expressed in tumors of various histological origins. Lurquin C, et al. Genomics, 1997 Dec 15. PMID 9441743
    5. The melanoma-associated antigen 1 (MAGEA1) protein stimulates the E3 ubiquitin-ligase activity of TRIM31 within a TRIM31-MAGEA1-NSE4 complex. Kozakova L, et al. Cell Cycle, 2015. PMID 25590999, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC9322

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    melanoma-associated antigen B1
    Names
    DSS/AHC critical interval MAGE superfamily 10
    MAGE-B1 antigen
    MAGE-XP antigen
    cancer/testis antigen 3.1
    cancer/testis antigen family 3, member 1
    melanoma antigen family B, 1
    melanoma antigen family B1

    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_016336.1 RefSeqGene

      Range
      8416..13310
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002363.5 → NP_002354.2  melanoma-associated antigen B1

      See identical proteins and their annotated locations for NP_002354.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longest transcript.
      Source sequence(s)
      AC005185, DB022312, X82539
      Consensus CDS
      CCDS14222.1
      UniProtKB/Swiss-Prot
      B2RC79, O00601, O75862, P43366, Q6FHJ0, Q96CW8
      UniProtKB/TrEMBL
      Q96TG1
      Related
      ENSP00000368264.3, ENST00000378981.8
      Conserved Domains (2) summary
      pfam01454
      Location:115 → 283
      MAGE; MAGE family
      pfam12440
      Location:5 → 90
      MAGE_N; Melanoma associated antigen family N terminal

    2. NM_177404.3 → NP_796379.1  melanoma-associated antigen B1

      See identical proteins and their annotated locations for NP_796379.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks three 5' exons but has an alternate 5' exon, as compared to variant 1. Variants 1, 2 and 3 all have the same last exon and encode the same protein.
      Source sequence(s)
      AC005185, BU166425
      Consensus CDS
      CCDS14222.1
      UniProtKB/Swiss-Prot
      B2RC79, O00601, O75862, P43366, Q6FHJ0, Q96CW8
      UniProtKB/TrEMBL
      Q96TG1
      Related
      ENSP00000380681.2, ENST00000397548.4
      Conserved Domains (2) summary
      pfam01454
      Location:115 → 283
      MAGE; MAGE family
      pfam12440
      Location:5 → 90
      MAGE_N; Melanoma associated antigen family N terminal

    3. NM_177415.3 → NP_803134.1  melanoma-associated antigen B1

      See identical proteins and their annotated locations for NP_803134.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' region, as compared to variant 1. Variants 1, 2 and 3 all have the same last exon and encode the same protein.
      Source sequence(s)
      AC005185, DB022312, X82539
      Consensus CDS
      CCDS14222.1
      UniProtKB/Swiss-Prot
      B2RC79, O00601, O75862, P43366, Q6FHJ0, Q96CW8
      UniProtKB/TrEMBL
      Q96TG1
      Related
      ENSP00000380683.1, ENST00000397550.6
      Conserved Domains (2) summary
      pfam01454
      Location:115 → 283
      MAGE; MAGE family
      pfam12440
      Location:5 → 90
      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
      30243731..30252040
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      29836082..29844392
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43366.2 GenPept UniProtKB/Swiss-Prot:P43366

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