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

Gene ID: 931, updated on 8-Jul-2018
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; Vega:OTTHUMG00000167614
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; 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
See MS4A1 in Genome Data Viewer
Location:
11q12.2
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (60455809..60470752)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (60223251..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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

  • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
    Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
  • Hematopoietic cell lineage, conserved biosystem (from KEGG)
    Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: MS4A5

Homology

Clone Names

  • MGC3969

Gene Ontology Provided by GOA

Function Evidence Code Pubs
MHC class II protein complex binding HDA PubMed 
epidermal growth factor receptor binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
B cell proliferation NAS
Non-traceable Author Statement
more info
PubMed 
humoral immune response NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
extracellular space HDA PubMed 
integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
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

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_021950.3NP_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
    ENSP00000314620.7, ENST00000345732.8
    Conserved Domains (1) summary
    pfam04103
    Location:51216
    CD20; CD20-like family
  2. NM_152866.2NP_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 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
    Conserved Domains (1) summary
    pfam04103
    Location:51216
    CD20; CD20-like family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    60455809..60470752
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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