MS4A1 membrane-spanning 4-domains, subfamily A, member 1 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: MS4A1provided by HGNC
Official Full Name: membrane-spanning 4-domains, subfamily A, member 1provided by HGNC
Primary source: HGNC:7315
See related: Ensembl:ENSG00000156738; HPRD:00204; 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]

Genomic context

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Location :: 11q12

Sequence :: Chromosome: 11; NC_000011.9 (60223282..60238225)

See MS4A1 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Anti-hCD20 IgE antibodies have in vitro cytotoxic activity.
Title: Using the allergic immune system to target cancer: activity of IgE antibodies specific for human CD20 and MUC1.
Case Report: CD20-positive NK/T-cell lymphoma with an indolent clinical course.
Title: CD20-positive NK/T-cell lymphoma with indolent clinical course: report of case and review of literature.
CD20 antigen is not expressed in cancer stem cells in multiple myeloma.
Title: CD20 positive cells are undetectable in the majority of multiple myeloma cell lines and are not associated with a cancer stem cell phenotype.
CD20 expression in B-cell precursor acute lymphoblastic leukemia is common in Mexican patients and lacks a prognostic value.
Title: CD20 expression in B-cell precursor acute lymphoblastic leukemia is common in Mexican patients and lacks a prognostic value.
Data indicate that the bridging of CD20 antigen and FcgammaRIIIa is an essential interaction for the initiation of antibody dependent cell-mediated cytotoxicity (ADCC) activity and assay.
Title: Development of an ELISA based bridging assay as a surrogate measure of ADCC.
CD20-positive posttransplant lymphoproliferative disorder lesions in kidney transplant patients are significantly more likely to develop early after transplant and represent an inferior outcome.
Title: CD20 antigen expression by lymphoproliferative disorders after kidney transplant is independently associated with a poor outcome: PTLD.Int survey.
Data show that in the blood of rheumatoid arthritis (RA) patients, a greater proportion of Th17 cells are of a CD20+ phenotype compared to healthy individuals, suggesting these cells may represent an additional target for anti-CD20 therapies.
Title: Frequency of Th17 CD20+ cells in the peripheral blood of rheumatoid arthritis patients is higher compared to healthy subjects.
Data indicate that a signature of seven biomarkers (Bax, Bcl-X, PTEN, COX-2, beta-Catenin, MTAP and CD20) was found to be an independent negative predictor for overall and recurrence-free survival in cutaneous malignant melanoma (MM).
Title: A seven-marker signature and clinical outcome in malignant melanoma: a large-scale tissue-microarray study with two independent patient cohorts.
Prenyltransferases regulate CD20 protein levels and influence anti-CD20 monoclonal antibody-mediated activation of complement-dependent cytotoxicity
Title: Prenyltransferases regulate CD20 protein levels and influence anti-CD20 monoclonal antibody-mediated activation of complement-dependent cytotoxicity.
Dsta show that differential expression of MS4A1 is a stromal signal of uncertain significance, and an example of the rationale for tumor cell enrichment in preparation for gene expression studies to identify markers of particular tumor phenotypes.
Title: MS4A1 dysregulation in asbestos-related lung squamous cell carcinoma is due to CD20 stromal lymphocyte expression.

Submit: New GeneRIF Correction See all (68)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Immunodeficiency, common variable, 5

MIM: 613495

Genetic Testing Registry

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 downregulates CD79B from the surface of dual-positive CD79b/CD20 B cells	PubMed

Go to the HIV-1, Human Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P11836	P25942	CD40	HPRD	PubMed
P11836	P68400	CSNK2A1	HPRD	PubMed
P11836	P19784	CSNK2A2	HPRD	PubMed
P11836	P06241	FYN	HPRD	PubMed
P11836	P06239	LCK	HPRD	PubMed
P11836	P07948	LYN	HPRD	PubMed
BioGRID:107369	BioGRID:107396	CD40	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107369	BioGRID:107208	FMNL1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107369	BioGRID:108810	FYN	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107369	BioGRID:109367	HLA-DRA	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107369	BioGRID:109368	HLA-DRB1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107369	BioGRID:109370	HLA-DRB3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107369	BioGRID:109371	HLA-DRB4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107369	BioGRID:109372	HLA-DRB5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107369	BioGRID:110124	LCK	BioGRID	PubMed	Affinity Capture-Western

Pathways from BioSystems

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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...

General gene information

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Markers

STS-L23419 (e-PCR)
- UniSTS:78341

GDB:197528 (e-PCR)
- UniSTS:155940

D11S3434 (e-PCR)
- UniSTS:152675

RH93595 (e-PCR)
- UniSTS:85894

D11S4377 (e-PCR)
- UniSTS:64934

SHGC-60212 (e-PCR)
- UniSTS:83372

PMC87290P2 (e-PCR)
- UniSTS:273593

RH93627 (e-PCR)
- UniSTS:90836

RH11466 (e-PCR)
- UniSTS:26337

SHGC-133022 (e-PCR)
- UniSTS:170978

Homology

Homologs of the MS4A1 gene: The MS4A1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Map Viewer (Mouse, Rat)

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
B cell activation	IEA Inferred from Electronic Annotation more info
immune response	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
external side of plasma membrane	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
nucleolus	IDA Inferred from Direct Assay more info
plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: B-lymphocyte antigen CD20

Names: B-lymphocyte antigen CD20; CD20 antigen; CD20 receptor; leukocyte surface antigen Leu-16; B-lymphocyte cell-surface antigen 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

NG_023388.1 RefSeqGene

Range

5001..19944

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_140

mRNA and Protein(s)

NM_021950.3 → NP_068769.2 B-lymphocyte antigen CD20

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

Related

ENSP00000314620, ENST00000345732

Conserved Domains (1) summary

pfam04103
Location:51 – 216
Blast Score: 322

CD20; CD20-like family
NM_152866.2 → NP_690605.1 B-lymphocyte antigen CD20

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

Conserved Domains (1) summary

pfam04103
Location:51 – 216
Blast Score: 322

CD20; CD20-like family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p10 Primary Assembly

Range

60223282..60238225

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

56569727..56584670

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018922.1 Alternate CHM1_1.0

Range

60143860..60158806

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01021511.1 (3948..18891)	None
genomic	AMYH01003664.1 (4094..19040)	None
genomic	AP001034.5 (50359..63793)	None
genomic	AP003127.2 (159729..161238)	None
genomic	CH471076.1	EAW73889.1
		EAW73890.1
		EAW73891.1
		EAW73892.1
genomic	JA362570.1	CCA94567.1
genomic	L23415.1	AAA88911.1
genomic	L23418.1	None
genomic	L23419.1	AAA88911.1
genomic	M27394.1	AAA35581.1
genomic	M27395.1	None
mRNA	AK225630.1	None
mRNA	AK292168.1	BAF84857.1
mRNA	AK300025.1	BAG61836.1
mRNA	AK310118.1	None
mRNA	AW504475.1	None
mRNA	BC002807.2	AAH02807.1
mRNA	CD691924.1	None
mRNA	X07203.1	CAA30179.1
mRNA	X07204.1	CAA30180.1
mRNA	X12530.1	CAA31046.1
other-genetic	DQ893507.2	ABM84433.1
other-genetic	DQ896499.2	ABM87498.1