CD79A CD79a molecule [Homo sapiens (human)] - Gene

Summary

Official Symbol: CD79Aprovided by HGNC
Official Full Name: CD79a moleculeprovided by HGNC
Primary source: HGNC:HGNC:1698
See related: Ensembl:ENSG00000105369 MIM:112205; AllianceGenome:HGNC:1698
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: IGA; MB1; MB-1; IGAlpha
Summary: The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Expression: Biased expression in lymph node (RPKM 171.0), spleen (RPKM 119.8) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (41877279..41881372)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (44696761..44700859)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (42381349..42385439)

Chromosome 19 - NC_000019.10 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?

Immunoglobulin A levels and its correlation with neutrophil-to-lymphocyte ratio as inflammatory biomarkers for dry eye disease in type 2 diabetes: a retrospective study.
Title: Immunoglobulin A levels and its correlation with neutrophil-to-lymphocyte ratio as inflammatory biomarkers for dry eye disease in type 2 diabetes: a retrospective study.
Compromised antigen binding and signaling interfere with bispecific CD19 and CD79a chimeric antigen receptor function.
Title: Compromised antigen binding and signaling interfere with bispecific CD19 and CD79a chimeric antigen receptor function.
Galactose-deficient IgA1 Is Involved in IgA Deposition in Renal Grafts Biopsied One Hour after Kidney Transplantation.
Title: Galactose-deficient IgA1 Is Involved in IgA Deposition in Renal Grafts Biopsied One Hour after Kidney Transplantation.
Selective IgA Deficiency May Be an Underrecognized Risk Factor for Severe COVID-19.
Title: Selective IgA Deficiency May Be an Underrecognized Risk Factor for Severe COVID-19.
Mechanism of CD79A and CD79B Support for IgM+ B Cell Fitness through B Cell Receptor Surface Expression.
Title: Mechanism of CD79A and CD79B Support for IgM+ B Cell Fitness through B Cell Receptor Surface Expression.
CD79a promotes CNS-infiltration and leukemia engraftment in pediatric B-cell precursor acute lymphoblastic leukemia.
Title: CD79a promotes CNS-infiltration and leukemia engraftment in pediatric B-cell precursor acute lymphoblastic leukemia.
Clinicopathological significance of CD79a expression in classic Hodgkin lymphoma.
Title: Clinicopathological significance of CD79a expression in classic Hodgkin lymphoma.
Aberrant CD79a and/or PAX5 expression can be found in Acute Myelogenous Leukemia cases with RUNX1 mutations even without the translocation t(8; 21).
Title: RUNX1 Mutations Can Lead to Aberrant Expression of CD79a and PAX5 in Acute Myelogenous Leukemias: A Potential Diagnostic Pitfall.
The incidence of MYD88 and CD79B mutations in patients with CD5(+) DLBCL is lower than that in patients with DLBCL-SS, suggesting that CD5(+) DLBCL is not the same disease as DLBCL-SS in terms of gene mutation status.
Title: MYD88, CD79B, and CARD11 gene mutations in CD5-positive diffuse large B-cell lymphoma.
Data show that Bruton tyrosine kinase (BTK)inhibitor Ibrutinib augments MALT lymphoma associated translocation protein (MALT1) inhibition by S-Mepazine in CD79 antigen mutant activated B cell-subtype (ABC) of diffuse large B cell lymphoma (DLBCL).
Title: Combinatorial BTK and MALT1 inhibition augments killing of CD79 mutant diffuse large B cell lymphoma.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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
Agammaglobulinemia 3, autosomal recessive MedGen: C3150751 OMIM: 613501 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 upregulates the expression of CD79a molecule, immunoglobulin-associated alpha (CD79A) in human 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

NoName (e-PCR)
- UniSTS:486417

GDB:363615 (e-PCR)
- UniSTS:156779

GDB:363618 (e-PCR)
- UniSTS:156780

GDB:363621 (e-PCR)
- UniSTS:156781

RH49 (e-PCR)
- UniSTS:84663

STS-U05259 (e-PCR)
- UniSTS:74745

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane signaling receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in B cell activation	ISS Inferred from Sequence or Structural Similarity more info
involved_in B cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in B cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in B cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in B cell receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in B cell receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of B cell receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of B cell receptor complex	IDA Inferred from Direct Assay more info	PubMed
part_of B cell receptor complex	ISS Inferred from Sequence or Structural Similarity more info
part_of IgM B cell receptor complex	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 external side of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane raft	ISS Inferred from Sequence or Structural Similarity more info
located_in multivesicular body	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: B-cell antigen receptor complex-associated protein alpha chain

Names: CD79a antigen (immunoglobulin-associated alpha); CD79a molecule, immunoglobulin-associated alpha; MB-1 membrane glycoprotein; ig-alpha; membrane-bound immunoglobulin-associated protein; surface IgM-associated protein

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_009619.1 RefSeqGene

Range

5001..9250

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_42

mRNA and Protein(s)

NM_001783.4 → NP_001774.1 B-cell antigen receptor complex-associated protein alpha chain isoform 1 precursor

See identical proteins and their annotated locations for NP_001774.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC243967

Consensus CDS

CCDS12589.1

UniProtKB/Swiss-Prot

A0N775, P11912, Q53FB8

Related

ENSP00000221972.3, ENST00000221972.8

Conserved Domains (2) summary

smart00077
Location:185 → 205

ITAM; Immunoreceptor tyrosine-based activation motif

smart00410
Location:39 → 125

IG_like; Immunoglobulin like
NM_021601.4 → NP_067612.1 B-cell antigen receptor complex-associated protein alpha chain isoform 2 precursor

See identical proteins and their annotated locations for NP_067612.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC243967, X83540

Consensus CDS

CCDS46088.1

UniProtKB/Swiss-Prot

P11912

Related

ENSP00000400605.1, ENST00000444740.2

Conserved Domains (2) summary

smart00077
Location:147 → 167

ITAM; Immunoreceptor tyrosine-based activation motif

smart00410
Location:39 → 68

IG_like; Immunoglobulin like