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

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; 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

Location:: 11q12.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (60455847..60470752)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (60406975..60421883)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (60223320..60238225)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
CD20 deletion has no effect upon B-cell receptor signaling or calcium flux. Also B-cell survival and proliferation is unaffected in the absence of CD20.
Title: CD20 is dispensable for B-cell receptor signaling but is required for proper actin polymerization, adhesion and migration of malignant B cells.

Submit: New GeneRIF Correction See all GeneRIFs (115)

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	Compare labs

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

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables MHC class II protein complex binding	HDA more info	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 more info	PubMed
located_in extracellular space	HDA more info	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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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_021950.4 → 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
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
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