Human Gene CD79A (ENST00000221972.8_5) from GENCODE V47lift37
  Description: CD79a molecule, transcript variant 1 (from RefSeq NM_001783.4)
Gencode Transcript: ENST00000221972.8_5
Gencode Gene: ENSG00000105369.10_13
Transcript (Including UTRs)
   Position: hg19 chr19:42,381,349-42,385,439 Size: 4,091 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr19:42,381,375-42,385,047 Size: 3,673 Coding Exon Count: 5 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:42,381,349-42,385,439)mRNA (may differ from genome)Protein (226 aa)
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-  Comments and Description Text from UniProtKB
  ID: CD79A_HUMAN
DESCRIPTION: RecName: Full=B-cell antigen receptor complex-associated protein alpha chain; AltName: Full=Ig-alpha; AltName: Full=MB-1 membrane glycoprotein; AltName: Full=Membrane-bound immunoglobulin-associated protein; AltName: Full=Surface IgM-associated protein; AltName: CD_antigen=CD79a; Flags: Precursor;
FUNCTION: Required in cooperation with CD79B for initiation of the signal transduction cascade activated by binding of antigen to the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Also required for BCR surface expression and for efficient differentiation of pro- and pre-B-cells. Stimulates SYK autophosphorylation and activation. Binds to BLNK, bringing BLNK into proximity with SYK and allowing SYK to phosphorylate BLNK. Also interacts with and increases activity of some Src- family tyrosine kinases. Represses BCR signaling during development of immature B-cells.
SUBUNIT: Heterodimer of alpha and beta chains; disulfide-linked. Part of the B-cell antigen receptor complex where the alpha/beta chain heterodimer is non-covalently associated with an antigen- specific membrane-bound surface immunoglobulin of two heavy chains and two light chains. Interacts through its phosphorylated ITAM domain with the SH2 domains of SYK which stimulates SYK autophosphorylation and activation. Also interacts, when phosphorylated on Tyr-210, with the SH2 domain of BLNK/SLP65, bringing BLNK into proximity with SYK and allowing SYK to phosphorylate BLNK which is necessary for trafficking of the BCR to late endosomes. Interacts with Src-family tyrosine kinases including FYN and LYN, increasing their activity (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Note=Following antigen binding, the BCR has been shown to translocate from detergent-soluble regions of the cell membrane to lipid rafts although signal transduction through the complex can also occur outside lipid rafts (By similarity).
TISSUE SPECIFICITY: B-cells.
PTM: Phosphorylated on tyrosine, serine and threonine residues upon B-cell activation. Phosphorylation of tyrosine residues by Src-family kinases is an early and essential feature of the BCR signaling cascade. The phosphorylated tyrosines serve as docking sites for SH2-domain containing kinases, leading to their activation which in turn leads to phosphorylation of downstream targets. Phosphorylated by LYN. Phosphorylation of serine and threonine residues may prevent subsequent tyrosine phosphorylation.
PTM: Arginine methylation in the ITAM domain may interfere with the binding of SYK. It promotes signals leading to B cell differentiation (By similarity).
DISEASE: Defects in CD79A are the cause of agammaglobulinemia type 3 (AGM3) [MIM:613501]. It is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. Note=Two different mutations, one at the splice donor site of intron 2 and the other at the splice acceptor site for exon 3, have been identified. Both mutations give rise to a truncated protein.
SIMILARITY: Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
SIMILARITY: Contains 1 ITAM domain.
WEB RESOURCE: Name=CD79Abase; Note=CD79A mutation db; URL="http://bioinf.uta.fi/CD79Abase/";

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: CD79A
Diseases sorted by gene-association score: agammaglobulinemia 3* (1018), agammaglobulinemia, non-bruton type* (132), iga glomerulonephritis (46), tonsillitis (39), dermatitis herpetiformis (37), dental caries (34), milk allergy (31), giardiasis (31), immunoglobulin alpha deficiency (31), dysgammaglobulinemia (29), henoch-schoenlein purpura (28), immunoglobulin g deficiency (28), agammaglobulinemia (25), subcorneal pustular dermatosis (25), hypersensitivity reaction type iii disease (25), selective iga deficiency disease (24), primary immunodeficiency disease (24), cryptosporidiosis (23), cow milk allergy (23), bacteriuria (23), microscopic colitis (22), clonorchiasis (22), chlamydia (22), congenital toxoplasmosis (22), purpura (19), mesangial proliferative glomerulonephritis (18), exercise-induced anaphylaxis (18), ocular toxoplasmosis (18), proliferative glomerulonephritis (17), alpha chain disease (17), strongyloidiasis (17), q fever (17), meningoencephalitis (17), parotitis (16), inclusion conjunctivitis (16), cicatricial pemphigoid (16), otitis media (16), anisakiasis (16), toxoplasmosis (15), exudative glomerulonephritis (15), secondary syphilis (15), persistent generalized lymphadenopathy (15), root caries (15), ulcerative blepharitis (15), arteriolosclerosis (15), cryoglobulinemia (15), selective igg deficiency disease (15), cicatricial entropion (14), glomerulonephritis (14), celiac disease (14), syphilis (14), cork-handlers' disease (14), erythema multiforme (13), hypersensitivity vasculitis (13), membranoproliferative glomerulonephritis (13), echinococcosis (13), plasma cell neoplasm (13), commensal bacterial infectious disease (13), coccidiosis (12), membranous nephropathy (12), cryofibrinogenemia (12), c1q nephropathy (12), plasmacytoma (12), lipoid nephrosis (12), extrinsic allergic alveolitis (12), acute proliferative glomerulonephritis (12), cd40 ligand deficiency (11), hypersensitivity pneumonitis, familial (11), hypersensitivity reaction disease (11), autoimmune disease of gastrointestinal tract (11), vulvovaginal candidiasis (11), sjogren's syndrome (11), keratoconjunctivitis sicca (11), autoimmune disease of skin and connective tissue (11), acute poststreptococcal glomerulonephritis (11), spondyloarthropathy 1 (11), bird fancier's lung (11), monoclonal paraproteinemia (11), shigellosis (11), vasculitis (10), salpingo-oophoritis (10), tetanus (10), orthostatic proteinuria (10), focal dermal hypoplasia (10), congenital syphilis (10), meningovascular neurosyphilis (10), bullous pemphigoid (10), salpingitis isthmica nodosa (10), middle ear disease (10), immunodeficiency, x-linked, with hyper-igm (10), pemphigus (10), antiphospholipid syndrome (10), chronic follicular conjunctivitis (10), heavy chain disease (10), gluten allergy (10), transient neonatal thrombocytopenia (10), trichostrongyloidiasis (10), atopic dermatitis 3 (10), axillary adenitis (10), trichostrongylosis (10), common variable immunodeficiency (10), cholera (9), selective immunoglobulin deficiency disease (9), ostertagiasis (9), osteosclerotic myeloma (9), polyclonal hypergammaglobulinemia (9), protein-losing enteropathy (9), guillain-barre syndrome (9), trichomoniasis (9), fallopian tube disease (9), linear iga disease (9), sporotrichosis (9), small intestine lymphoma (9), protein-energy malnutrition (9), epidermolysis bullosa acquisita (9), subacute bacterial endocarditis (9), periodontal disease (8), pulmonary hemosiderosis (8), keratoconjunctivitis (8), blepharochalasis (8), periodontosis (8), erythema elevatum diutinum (8), pollen allergy (8), chronic graft versus host disease (8), primary bacterial infectious disease (8), acquired immunodeficiency syndrome (8), cerebral arteritis (8), gastroduodenitis (8), amebiasis (8), invasive aspergillosis (8), vitamin b12 deficiency (8), immune system disease (8), transient hypogammaglobulinemia of infancy (8), reactive arthritis (8), primary biliary cirrhosis (8), lichen disease (8), precursor t-lymphoblastic lymphoma/leukemia (8), early yaws (8), pharynx cancer (8), chronic interstitial cystitis (8), subacute glomerulonephritis (8), ventilation pneumonitis (8), salpingitis (8), bullous skin disease (8), lymphogranuloma venereum (8), schistosomiasis (8), brill-zinsser disease (8), collagenous colitis (8), autoimmune disease of blood (7), wheat allergy (7), smoldering myeloma (7), intestinal tuberculosis (7), non-secretory myeloma (7), b cell deficiency (7), obstructive jaundice (7), mature b-cell neoplasm (7), norwegian scabies (7), sclerosing keratitis (7), monoclonal gammopathy of uncertain significance (7), duodenitis (7), bronchitis (7), parasitic ichthyosporea infectious disease (7), rhinosporidiosis (7), plasma protein metabolism disease (7), carotenemia (7), exanthem (7), cervix disease (7), immunodeficiency-centromeric instability-facial anomalies syndrome (7), orofacial granulomatosis (7), substernal goiter (7), heterophyiasis (7), neuroschistosomiasis (7), leukorrhea (7), orbital granuloma (7), hyperimmunoglobulin syndrome (7), bacterial conjunctivitis (7), hypersensitivity reaction type ii disease (7), hypersensitivity reaction type iv disease (6), end stage renal failure (6), allergic hypersensitivity disease (6), urethritis (6), farmer's lung (6), salivary gland disease (6), congenital hypogammaglobulinemia (6), parotid disease (6), retinitis pigmentosa 35 (6), yellow nail syndrome (6), granulomatous hepatitis (6), ophthalmia neonatorum (6), juvenile dermatitis herpetiformis (6), chickenpox (6), aspergillosis (6), pyelitis (6), systemic lupus erythematosus (6), immunodeficiency with hyper-igm, type 2 (6), transient neonatal neutropenia (6), precursor lymphoblastic lymphoma/leukemia (6), hyperglobulinemic purpura (6), spinocerebellar ataxia, autosomal recessive 10 (6), primary thrombocytopenia (6), gingivitis (6), viral esophagitis (6), encapsulated thymoma (6), scleredema adultorum (6), opportunistic mycosis (6), bronchopneumonia (6), ulcerative stomatitis (6), candidiasis (6), cervicitis (6), goodpasture syndrome (6), maxillary sinusitis (6), lymphocytic colitis (6), mite infestation (6), marasmus (6), rapidly progressive glomerulonephritis (6), rhinoscleroma (6), geniculate herpes zoster (5), small intestine cancer (5), upper respiratory tract disease (5), urinary system disease (5), chronic orbital inflammation (5), thymic dysplasia (5), chronic polyneuropathy (5), conjunctival disease (5), panophthalmitis (5), lung lymphoma (5), intussusception (5), lymphoplasmacyte-rich meningioma (5), acute salpingitis (5), postsurgical hypothyroidism (5), gamma heavy chain disease (5), chorioretinitis (5), asymptomatic neurosyphilis (5), diffuse glomerulonephritis (5), alport syndrome (5), herpes gestationis (5), pustulosis palmaris et plantaris (5), vulvitis (5), parasitic protozoa infectious disease (5), nail disorder, nonsyndromic congenital, 1 (5), autoimmune disease of urogenital tract (5), dysentery (5), urethral syndrome (5), parasitic helminthiasis infectious disease (5), acute diarrhea (5), acute maxillary sinusitis (5), vesiculobullous skin disease (5), amyloid tumor (5), jejunoileitis (5), anterior scleritis (5), cogan syndrome (5), ocular cicatricial pemphigoid (5), taeniasis (5), primary amebic meningoencephalitis (5), epidermolysis bullosa, junctional, non-herlitz type (4), hymenolepiasis (4), tertiary neurosyphilis (4), byssinosis (4), vaginal disease (4), endocardium disease (4), gastrointestinal allergy (4), nose disease (4), pericardium disease (4), respiratory system disease (4), pneumocystosis (4), teeth hard tissue disease (4), phlebotomus fever (4), human immunodeficiency virus infectious disease (4), tabes dorsalis (4), paranasal sinus disease (4), gingival disease (4), chronic maxillary sinusitis (4), lymph node disease (4), vernal conjunctivitis (4), pleuropneumonia (4), chronic salpingitis (4), indeterminate leprosy (4), geographic tongue (3), diarrhea (3), rheumatoid arthritis (3), multiple myeloma (3), asthma (2), skin disease (2), diabetes mellitus, insulin-dependent (2), chronic kidney failure (2), gastrointestinal system disease (2), intestinal disease (2), bone inflammation disease (2), stomach disease (1), lymphoma, malt, somatic (1), rheumatoid arthritis, systemic juvenile (1), combined t cell and b cell immunodeficiency (1), behcet syndrome (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 314.43 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 593.27 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.3026-0.088 Picture PostScript Text
3' UTR -124.10392-0.317 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR003598 - Ig_sub2
IPR013106 - Ig_V-set
IPR003110 - Phos_immunorcpt_sig_ITAM

Pfam Domains:
PF00047 - Immunoglobulin domain
PF02189 - Immunoreceptor tyrosine-based activation motif
PF07679 - Immunoglobulin I-set domain
PF07686 - Immunoglobulin V-set domain

SCOP Domains:
48726 - Immunoglobulin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1CV9 - NMR


ModBase Predicted Comparative 3D Structure on P11912
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004888 transmembrane signaling receptor activity
GO:0005515 protein binding
GO:0042803 protein homodimerization activity

Biological Process:
GO:0002250 adaptive immune response
GO:0002376 immune system process
GO:0007166 cell surface receptor signaling pathway
GO:0030183 B cell differentiation
GO:0042100 B cell proliferation
GO:0042113 B cell activation
GO:0050853 B cell receptor signaling pathway
GO:0051289 protein homotetramerization

Cellular Component:
GO:0005737 cytoplasm
GO:0005771 multivesicular body
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009897 external side of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0019815 B cell receptor complex
GO:0045121 membrane raft


-  Descriptions from all associated GenBank mRNAs
  KJ890873 - Synthetic construct Homo sapiens clone ccsbBroadEn_00267 CD79A gene, encodes complete protein.
AK223371 - Homo sapiens mRNA for CD79A antigen isoform 1 precursor variant, clone: FCC103G02.
M80462 - Human MB-1 mRNA, complete cds.
M86921 - Human murine (MB1) gene, complete cds.
AK315337 - Homo sapiens cDNA, FLJ96378, Homo sapiens CD79A antigen (immunoglobulin-associated alpha)(CD79A), transcript variant 1, mRNA.
AF283770 - Homo sapiens clone TCBAP0759 mRNA sequence.
BC113731 - Homo sapiens CD79a molecule, immunoglobulin-associated alpha, mRNA (cDNA clone MGC:142291 IMAGE:8322783), complete cds.
BC113733 - Homo sapiens CD79a molecule, immunoglobulin-associated alpha, mRNA (cDNA clone MGC:142293 IMAGE:8322785), complete cds.
JD320769 - Sequence 301793 from Patent EP1572962.
S46706 - mb-1=membrane-bound immunoglobulin associated protein [human, Ly66 cells, mRNA, 1078 nt].
JD062346 - Sequence 43370 from Patent EP1572962.
S79248 - Ig-alpha/mb-1=CD79a {alternatively spliced} [human, B cells, mRNA Partial, 564 nt].
HQ258131 - Synthetic construct Homo sapiens clone IMAGE:100072440 CD79a molecule, immunoglobulin-associated alpha (CD79A) gene, encodes complete protein.
M74721 - Human B-cell antigen receptor (MB-1) mRNA, complete cds.
X83540 - H.sapiens mb-1 mRNA for Ig-alpha, splice variant.
S75217 - mb-1=IgM-alpha [human, mRNA, 1068 nt].
X13451 - Human mRNA for lymphocyte lineage-restricted mb-1 membrane glycoprotein C-term. (m-mb-1 homolog.).
BC018964 - Homo sapiens cDNA clone IMAGE:3620560.
JD255084 - Sequence 236108 from Patent EP1572962.
JD389320 - Sequence 370344 from Patent EP1572962.
JD151540 - Sequence 132564 from Patent EP1572962.
JD498334 - Sequence 479358 from Patent EP1572962.
JD409712 - Sequence 390736 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_ctcfPathway - CTCF: First Multivalent Nuclear Factor
h_bcrPathway - BCR Signaling Pathway
h_bcrmolecule - B Cell Receptor Complex

Reactome (by CSHL, EBI, and GO)

Protein P11912 (Reactome details) participates in the following event(s):

R-HSA-983696 The Immunoglobulin of the BCR binds antigen
R-HSA-983700 SYK binds the activated BCR
R-HSA-5690740 CD22 binds B-cell receptor
R-HSA-983703 p-6Y-SYK phosphorylates BLNK (SLP65)
R-HSA-983707 SYK autophosphorylates at the activated BCR
R-HSA-5690702 LYN phosphorylates CD22
R-HSA-5690701 SHP1 binds p-CD22
R-HSA-1112666 BLNK (SLP-65) Signalosome hydrolyzes phosphatidyinositol bisphosphate forming diacylglycerol and inositol-1,4,5-trisphosphate
R-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
R-HSA-983705 Signaling by the B Cell Receptor (BCR)
R-HSA-5690714 CD22 mediated BCR regulation
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A0N775, CD79A_HUMAN, ENST00000221972.1, ENST00000221972.2, ENST00000221972.3, ENST00000221972.4, ENST00000221972.5, ENST00000221972.6, ENST00000221972.7, IGA, MB1, NM_001783, P11912, Q53FB8, uc317dcy.1, uc317dcy.2
UCSC ID: ENST00000221972.8_5
RefSeq Accession: NM_001783.4
Protein: P11912 (aka CD79A_HUMAN or C79A_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.