Human Gene CD80 (uc003ecq.3)
  Description: Homo sapiens CD80 molecule (CD80), mRNA.
RefSeq Summary (NM_005191): The protein encoded by this gene is a membrane receptor that is activated by the binding of CD28 or CTLA-4. The activated protein induces T-cell proliferation and cytokine production. This protein can act as a receptor for adenovirus subgroup B and may play a role in lupus neuropathy. [provided by RefSeq, Aug 2011].
Transcript (Including UTRs)
   Position: hg19 chr3:119,243,140-119,278,481 Size: 35,342 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr3:119,246,618-119,276,575 Size: 29,958 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:119,243,140-119,278,481)mRNA (may differ from genome)Protein (288 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CD80_HUMAN
DESCRIPTION: RecName: Full=T-lymphocyte activation antigen CD80; AltName: Full=Activation B7-1 antigen; AltName: Full=BB1; AltName: Full=CTLA-4 counter-receptor B7.1; Short=B7; AltName: CD_antigen=CD80; Flags: Precursor;
FUNCTION: Involved in the costimulatory signal essential for T- lymphocyte activation. T-cell proliferation and cytokine production is induced by the binding of CD28 or CTLA-4 to this receptor.
SUBUNIT: Interacts with adenovirus subgroup B fiber proteins and acts as a receptor for these viruses.
INTERACTION: Q9NZQ7:CD274; NbExp=2; IntAct=EBI-1031024, EBI-4314282; P16410:CTLA4; NbExp=3; IntAct=EBI-1031024, EBI-1030991; P08138:NGFR; NbExp=3; IntAct=EBI-1031024, EBI-1387782;
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
TISSUE SPECIFICITY: Expressed on activated B-cells, macrophages and dendritic cells.
SIMILARITY: Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
SIMILARITY: Contains 1 Ig-like V-type (immunoglobulin-like) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CD80
CDC HuGE Published Literature: CD80
Positive Disease Associations: Celiac disease , Celiac Disease|
Related Studies:
  1. Celiac disease
    Dubois ,et al. Nat Genet 2010, Multiple common variants for celiac disease influencing immune gene expression , Nature genetics 2010 42- 4 : 295-302. [PubMed 20190752]
  2. Celiac Disease|
    G Trynka , et al. Gut 2009 58(8):1078-83, Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling., Gut 2009 58(8):1078-83. [PubMed 19240061]

-  MalaCards Disease Associations
  MalaCards Gene Search: CD80
Diseases sorted by gene-association score: focal segmental glomerulosclerosis (5), systemic lupus erythematosus (5), vaccinia (4), follicular lymphoma (4), rheumatoid arthritis (3), wegener granulomatosis (3), fungal esophagitis (3), chronic lymphocytic leukemia (3), multiple sclerosis, disease progression, modifier of (2), mixed malaria (2), common wart (1), myositis fibrosa (1), diabetes mellitus, insulin-dependent, 6 (1), diabetes mellitus, insulin-dependent, 13 (1), bare lymphocyte syndrome, type i (1), multiple cranial nerve palsy (1), exanthema subitum (1), leukemia, acute myeloid (0)

-  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: 40.78 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 47.27 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 -105.70395-0.268 Picture PostScript Text
3' UTR -442.461495-0.296 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
IPR013162 - CD80_C2-set
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR003599 - Ig_sub
IPR013106 - Ig_V-set

Pfam Domains:
PF00047 - Immunoglobulin domain
PF07686 - Immunoglobulin V-set domain
PF08205 - CD80-like C2-set immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1DR9 - X-ray MuPIT 1I8L - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P33681
FrontTopSide
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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001618 virus receptor activity
GO:0005515 protein binding
GO:0015026 coreceptor activity
GO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity

Biological Process:
GO:0009967 positive regulation of signal transduction
GO:0016032 viral process
GO:0019221 cytokine-mediated signaling pathway
GO:0031295 T cell costimulation
GO:0035556 intracellular signal transduction
GO:0045086 positive regulation of interleukin-2 biosynthetic process
GO:0045425 positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process
GO:0045627 positive regulation of T-helper 1 cell differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046718 viral entry into host cell
GO:0046854 phosphatidylinositol phosphorylation
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation
GO:0051897 positive regulation of protein kinase B signaling

Cellular Component:
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0098636 protein complex involved in cell adhesion


-  Descriptions from all associated GenBank mRNAs
  BC042665 - Homo sapiens CD80 molecule, mRNA (cDNA clone MGC:34467 IMAGE:5181343), complete cds.
AK292129 - Homo sapiens cDNA FLJ75225 complete cds, highly similar to Homo sapiens CD80 antigen (CD28 antigen ligand 1, B7-1 antigen) (CD80), mRNA.
M27533 - Human Ig rearranged B7 protein mRNA VC1-region, complete cds.
AY197777 - Homo sapiens costimulatory factor CD80 type 1 mRNA, complete cds; alternatively spliced.
AY197778 - Homo sapiens costimulatory factor CD80 type 2 mRNA, complete cds; alternatively spliced.
KJ890861 - Synthetic construct Homo sapiens clone ccsbBroadEn_00255 CD80 gene, encodes complete protein.
AB590671 - Synthetic construct DNA, clone: pFN21AE1779, Homo sapiens CD80 gene for CD80 molecule, without stop codon, in Flexi system.
AY081815 - Homo sapiens costimulatory molecule variant IgV-CD80 (CD80) mRNA, complete cds, alternatively spliced.
JD213996 - Sequence 195020 from Patent EP1572962.
JD534344 - Sequence 515368 from Patent EP1572962.
JD358672 - Sequence 339696 from Patent EP1572962.
JD078293 - Sequence 59317 from Patent EP1572962.
JD184529 - Sequence 165553 from Patent EP1572962.
JD315702 - Sequence 296726 from Patent EP1572962.
JD075425 - Sequence 56449 from Patent EP1572962.
JD531160 - Sequence 512184 from Patent EP1572962.
JD482886 - Sequence 463910 from Patent EP1572962.
JD279138 - Sequence 260162 from Patent EP1572962.
JD414203 - Sequence 395227 from Patent EP1572962.
JD160060 - Sequence 141084 from Patent EP1572962.
JD315159 - Sequence 296183 from Patent EP1572962.
JD544794 - Sequence 525818 from Patent EP1572962.
JD099884 - Sequence 80908 from Patent EP1572962.
JD195205 - Sequence 176229 from Patent EP1572962.
JD248995 - Sequence 230019 from Patent EP1572962.
JD274360 - Sequence 255384 from Patent EP1572962.
JD153520 - Sequence 134544 from Patent EP1572962.
JD268603 - Sequence 249627 from Patent EP1572962.
JD327957 - Sequence 308981 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04514 - Cell adhesion molecules (CAMs)
hsa04620 - Toll-like receptor signaling pathway
hsa04672 - Intestinal immune network for IgA production
hsa04940 - Type I diabetes mellitus
hsa05320 - Autoimmune thyroid disease
hsa05322 - Systemic lupus erythematosus
hsa05330 - Allograft rejection
hsa05332 - Graft-versus-host disease
hsa05416 - Viral myocarditis

BioCarta from NCI Cancer Genome Anatomy Project
h_asbcellPathway - Antigen Dependent B Cell Activation
h_blymphocytePathway - B Lymphocyte Cell Surface Molecules
h_ctla4Pathway - The Co-Stimulatory Signal During T-cell Activation

Reactome (by CSHL, EBI, and GO)

Protein P33681 (Reactome details) participates in the following event(s):

R-HSA-388811 CD28 homodimer binds B7-1 homodimer
R-HSA-388809 CTLA-4 binds B7-1/B7-2
R-HSA-388831 Phosphorylation of CD28
R-HSA-388814 Grb2 binds CD28
R-HSA-388832 PI3K binds CD28
R-HSA-389381 Gads binds CD28
R-HSA-388833 Phosphorylation of CTLA-4
R-HSA-389352 Translocation of Vav1 to CD28
R-HSA-388829 SHP2 phosphatase binds CTLA-4
R-HSA-389158 CD28 bound PI3K phosphorylates PIP2 to PIP3
R-HSA-389354 Activation of Vav1
R-HSA-2400009 PI3K inhibitors block PI3K catalytic activity
R-HSA-2316434 PI3K phosphorylates PIP2 to PIP3
R-HSA-389348 Activation of Rac1 by pVav1
R-HSA-389350 Activation of Cdc42 by pVav1
R-HSA-389356 CD28 co-stimulation
R-HSA-6783783 Interleukin-10 signaling
R-HSA-389513 CTLA4 inhibitory signaling
R-HSA-388841 Costimulation by the CD28 family
R-HSA-449147 Signaling by Interleukins
R-HSA-389359 CD28 dependent Vav1 pathway
R-HSA-389357 CD28 dependent PI3K/Akt signaling
R-HSA-1280218 Adaptive Immune System
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-2219528 PI3K/AKT Signaling in Cancer
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-199418 Negative regulation of the PI3K/AKT network
R-HSA-5663202 Diseases of signal transduction
R-HSA-162582 Signal Transduction
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: CD28LG, CD28LG1, CD80_HUMAN, LAB7, NM_005191, NP_005182, P33681
UCSC ID: uc003ecq.3
RefSeq Accession: NM_005191
Protein: P33681 (aka CD80_HUMAN)
CCDS: CCDS2989.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_005191.3
exon count: 7CDS single in 3' UTR: no RNA size: 2757
ORF size: 867CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1919.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.