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    MS4A1 membrane spanning 4-domains A1 [ Homo sapiens (human) ]

    Gene ID: 931, updated on 28-Jun-2021

    Summary

    Official Symbol
    MS4A1provided by HGNC
    Official Full Name
    membrane spanning 4-domains A1provided by HGNC
    Primary source
    HGNC:HGNC:7315
    See related
    Ensembl:ENSG00000156738 MIM:112210
    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
    B1; S7; Bp35; CD20; FMC7; CVID5; MS4A2; LEU-16
    Summary
    This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in lymph node (RPKM 206.7), spleen (RPKM 109.2) and 2 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See MS4A1 in Genome Data Viewer
    Location:
    11q12.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (60455847..60470752)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (60223320..60238225)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene membrane spanning 4-domains A14 Neighboring gene membrane spanning 4-domains A5 Neighboring gene uncharacterized LOC105369320 Neighboring gene membrane spanning 4-domains A12 Neighboring gene membrane spanning 4-domains A13

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120-treated plasmacytoid dendritic cells show a reduced capacity to stimulate B cell growth and differentiation through downregulation of CD20 and CD38 PubMed
    env HIV-1 gp120 downregulates CD79B from the surface of dual-positive CD79b/CD20 B cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: MS4A5

    Homology

    Clone Names

    • MGC3969

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables MHC class II protein complex binding HDA PubMed 
    enables epidermal growth factor receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables immunoglobulin 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 B cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in B cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in B cell proliferation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in B cell receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in calcium ion import into cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in humoral immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein tetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in store-operated calcium entry IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    B-lymphocyte antigen CD20
    Names
    B-lymphocyte cell-surface antigen B1
    CD20 antigen
    CD20 receptor
    leukocyte surface antigen Leu-16
    membrane-spanning 4-domains, subfamily A, member 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_023388.1 RefSeqGene

      Range
      5001..19944
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_140

    mRNA and Protein(s)

    1. NM_021950.4NP_068769.2  B-lymphocyte antigen CD20

      See identical proteins and their annotated locations for NP_068769.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks a portion of the 5' UTR, compared to variant 1, but encodes the same protein.
      Source sequence(s)
      AP001034, BC002807, CD691924
      Consensus CDS
      CCDS31570.1
      UniProtKB/Swiss-Prot
      P11836
      UniProtKB/TrEMBL
      A0A024R507
      Related
      ENSP00000501369.1, ENST00000674194.1
      Conserved Domains (1) summary
      pfam04103
      Location:51216
      CD20; CD20-like family
    2. NM_152866.3NP_690605.1  B-lymphocyte antigen CD20

      See identical proteins and their annotated locations for NP_690605.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript variant. Variants 1, 2 and 3 both encode the same protein.
      Source sequence(s)
      AP001034, AW504475, BC002807, CD691924
      Consensus CDS
      CCDS31570.1
      UniProtKB/Swiss-Prot
      P11836
      UniProtKB/TrEMBL
      A0A024R507
      Related
      ENSP00000314620.7, ENST00000345732.9
      Conserved Domains (1) summary
      pfam04103
      Location:51216
      CD20; CD20-like family
    3. NM_152867.2NP_690606.1  B-lymphocyte antigen CD20

      Status: REVIEWED

      Source sequence(s)
      AP001034, AP003127
      Related
      ENSP00000433277.1, ENST00000534668.6
      Conserved Domains (1) summary
      pfam04103
      Location:51216
      CD20; CD20-like family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      60455847..60470752
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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