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    CD79A CD79a molecule [ Homo sapiens (human) ]

    Gene ID: 973, updated on 28-Oct-2024

    Summary

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    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

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    See CD79A in Genome Data Viewer
    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_000019.10Genomic Context describing neighboring genes Neighboring gene DMRT like family C2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42364028-42364783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10673 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42373545-42374103 Neighboring gene ribosomal protein S19 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14687 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10674 Neighboring gene microRNA 6797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10675 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:42388310-42388459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14690 Neighboring gene Rho guanine nucleotide exchange factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42398525-42399025 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42399985-42400527 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42402155-42402655 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42407915-42408520 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42408521-42409125 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42409731-42410335 Neighboring gene ETS repressor factor like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42424596-42425277 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42426221-42426848 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42432998-42433498 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:42435363-42435894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42439007-42439506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10678 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10680 Neighboring gene Rab acceptor 1

    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 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. B cell-restricted human mb-1 gene: expression, function, and lineage infidelity. Herren B, et al. Immunol Res, 2002. PMID 12403343
    2. Structure and expression of the mb-1 transcript in human lymphoid cells. Leduc I, et al. Clin Exp Immunol, 1992 Oct. PMID 1395095, Free PMC Article
    3. Molecular cloning and expression pattern of a human gene homologous to the murine mb-1 gene. Ha HJ, et al. J Immunol, 1992 Mar 1. PMID 1538135
    4. Human mb-1 gene: complete cDNA sequence and its expression in B cells bearing membrane Ig of various isotypes. Yu LM, et al. J Immunol, 1992 Jan 15. PMID 1729378
    5. The B-cell antigen receptor of the five immunoglobulin classes. Venkitaraman AR, et al. Nature, 1991 Aug 29. PMID 1881434

    See all (88) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. Clinicopathological significance of CD79a expression in classic Hodgkin lymphoma.
      Title: Clinicopathological significance of CD79a expression in classic Hodgkin lymphoma.
    8. 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.
    9. 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.
    10. 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)

    Genotypes

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

    1. NG_009619.1 RefSeqGene

      Range
      5001..9250
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_42

    mRNA and Protein(s)

    1. 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

    2. 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

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      41877279..41881372
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      44696761..44700859
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P11912.2 GenPept UniProtKB/Swiss-Prot:P11912

    Gene LinkOut

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

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