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

    Gene ID: 931, updated on 12-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:7315
    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; 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
    mouse all
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    Genomic context

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    See MS4A1 in Genome Data Viewer
    Location:
    11q12.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (60455847..60470752)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (60406975..60421883)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 4770 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:60258497-60259236 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:60259237-60259974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4772 Neighboring gene membrane spanning 4-domains A12 Neighboring gene membrane spanning 4-domains A13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3372

    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. T cells raised against allogeneic HLA-A2/CD20 kill primary follicular lymphoma and acute lymphoblastic leukemia cells. Abrahamsen IW, et al. Int J Cancer, 2012 Apr 15. PMID 21630262
    2. Down-regulation of CD20 expression in B-cell lymphoma cells after treatment with rituximab-containing combination chemotherapies: its prevalence and clinical significance. Hiraga J, et al. Blood, 2009 May 14. PMID 19246561
    3. Identification of CD20 C-terminal deletion mutations associated with loss of CD20 expression in non-Hodgkin's lymphoma. Terui Y, et al. Clin Cancer Res, 2009 Apr 1. PMID 19276251
    4. Dual functional molecular imaging probe targeting CD20 with PET and optical imaging. Paudyal P, et al. Oncol Rep, 2009 Jul. PMID 19513512
    5. Combination treatment of malignant B cells using the anti-CD20 antibody rituximab and the anti-malarial artesunate. Sieber S, et al. Int J Oncol, 2009 Jul. PMID 19513562

    See all (162) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CD20 expression regulates CD37 levels in B-cell lymphoma - implications for immunotherapies.
      Title: CD20 expression regulates CD37 levels in B-cell lymphoma - implications for immunotherapies.
    2. Novel cell subtypes of SPP1 + S100P+, MS4A1-SPP1 + S100P+ were key subpopulations in intrahepatic cholangiocarcinoma.
      Title: Novel cell subtypes of SPP1 + S100P+, MS4A1-SPP1 + S100P+ were key subpopulations in intrahepatic cholangiocarcinoma.
    3. MS4A1 as a Potential Independent Prognostic Factor of Breast Cancer Related to Lipid Metabolism and Immune Microenvironment Based on TCGA Database Analysis.
      Title: MS4A1 as a Potential Independent Prognostic Factor of Breast Cancer Related to Lipid Metabolism and Immune Microenvironment Based on TCGA Database Analysis.
    4. CD20 positive CD8 T cells are a unique and transcriptionally-distinct subset of T cells with distinct transmigration properties.
      Title: CD20 positive CD8 T cells are a unique and transcriptionally-distinct subset of T cells with distinct transmigration properties.
    5. CD20 expression, TrkB activation and functional activity of diffuse large B cell lymphoma-derived small extracellular vesicles.
      Title: CD20 expression, TrkB activation and functional activity of diffuse large B cell lymphoma-derived small extracellular vesicles.
    6. Differential effects of CD20+ B cells and PD-L1+ immune cells on pathologic complete response and outcome: comparison between inflammatory breast cancer and locally advanced breast cancer patients.
      Title: Differential effects of CD20+ B cells and PD-L1+ immune cells on pathologic complete response and outcome: comparison between inflammatory breast cancer and locally advanced breast cancer patients.
    7. CD20-positive primary nasal peripheral T-cell lymphoma: An analysis of one case and review of the literature.
      Title: CD20-positive primary nasal peripheral T-cell lymphoma: An analysis of one case and review of the literature.
    8. MS4A1 expression and function in T cells in the colorectal cancer tumor microenvironment.
      Title: MS4A1 expression and function in T cells in the colorectal cancer tumor microenvironment.
    9. Pharmacokinetics and safety of IBI301 versus rituximab in patients with CD20(+) B-cell lymphoma: a multicenter, randomized, double-blind, parallel-controlled study.
      Title: Pharmacokinetics and safety of IBI301 versus rituximab in patients with CD20(+) B-cell lymphoma: a multicenter, randomized, double-blind, parallel-controlled study.
    10. STIM1 knock-down decreases the affinity of obinutuzumab for CD20 by altering CD20 localization to Triton-soluble membrane.
      Title: STIM1 knock-down decreases the affinity of obinutuzumab for CD20 by altering CD20 localization to Triton-soluble membrane.
    Submit: New GeneRIF Correction See all GeneRIFs (116)

    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

    Associated conditions

    Description Tests
    Immunodeficiency, common variable, 5
    MedGen: C3150740 OMIM: 613495 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 cell surface receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in humoral immune response NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of calcium ion import across plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane raft IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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)

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    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_021950.4 → NP_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
      A6NMS4, B4DT24, P08984, P11836, Q13963
      UniProtKB/TrEMBL
      A8K803
      Related
      ENSP00000501369.1, ENST00000674194.1
      Conserved Domains (1) summary
      pfam04103
      Location:51 → 216
      CD20; CD20-like family

    2. NM_152866.3 → NP_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
      A6NMS4, B4DT24, P08984, P11836, Q13963
      UniProtKB/TrEMBL
      A8K803
      Related
      ENSP00000314620.7, ENST00000345732.9
      Conserved Domains (1) summary
      pfam04103
      Location:51 → 216
      CD20; CD20-like family

    3. NM_152867.2 → NP_690606.1  B-lymphocyte antigen CD20

      Status: REVIEWED

      Source sequence(s)
      AP001034, AP003127
      Consensus CDS
      CCDS31570.1
      UniProtKB/Swiss-Prot
      A6NMS4, B4DT24, P08984, P11836, Q13963
      UniProtKB/TrEMBL
      A8K803
      Related
      ENSP00000433277.1, ENST00000534668.6
      Conserved Domains (1) summary
      pfam04103
      Location:51 → 216
      CD20; CD20-like family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      60406975..60421883
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P11836.1 GenPept UniProtKB/Swiss-Prot:P11836

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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