Human Gene BTN3A3 (ENST00000361232.7) from GENCODE V44
  Description: Homo sapiens butyrophilin subfamily 3 member A3 (BTN3A3), transcript variant 2, mRNA. (from RefSeq NM_197974)
RefSeq Summary (NM_197974): The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A3) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010].
Gencode Transcript: ENST00000361232.7
Gencode Gene: ENSG00000111801.16
Transcript (Including UTRs)
   Position: hg38 chr6:26,440,488-26,452,815 Size: 12,328 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg38 chr6:26,443,998-26,452,411 Size: 8,414 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:26,440,488-26,452,815)mRNA (may differ from genome)Protein (535 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BT3A3_HUMAN
DESCRIPTION: RecName: Full=Butyrophilin subfamily 3 member A3; Flags: Precursor;
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (By similarity).
SIMILARITY: Belongs to the immunoglobulin superfamily. BTN/MOG family.
SIMILARITY: Contains 1 B30.2/SPRY domain.
SIMILARITY: Contains 2 Ig-like V-type (immunoglobulin-like) domains.

-  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


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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 32.61 RPKM in Spleen
Total median expression: 361.28 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 -71.00282-0.252 Picture PostScript Text
3' UTR -95.70404-0.237 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
IPR001870 - B30.2/SPRY
IPR003879 - Butyrophylin
IPR008985 - ConA-like_lec_gl_sf
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR003599 - Ig_sub
IPR013106 - Ig_V-set
IPR006574 - PRY
IPR018355 - SPla/RYanodine_receptor_subgr
IPR003877 - SPRY_rcpt

Pfam Domains:
PF00622 - SPRY domain
PF07686 - Immunoglobulin V-set domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
4F8T - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O00478
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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 Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0002250 adaptive immune response
GO:0002376 immune system process
GO:0002456 T cell mediated immunity

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK291722 - Homo sapiens cDNA FLJ76889 complete cds, highly similar to Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA.
AK301553 - Homo sapiens cDNA FLJ53225 complete cds, highly similar to Butyrophilin subfamily 3 member A3 precursor.
AB209581 - Homo sapiens mRNA for butyrophilin, subfamily 3, member A3 isoform b variant protein.
BC015815 - Homo sapiens butyrophilin, subfamily 3, member A3, mRNA (cDNA clone MGC:10692 IMAGE:3677284), complete cds.
AK223279 - Homo sapiens mRNA for butyrophilin, subfamily 3, member A3 isoform a variant, clone: SYN01475.
U90548 - Human butyrophilin (BTF3) mRNA, complete cds.
AK223301 - Homo sapiens mRNA for butyrophilin, subfamily 3, member A3 isoform a variant, clone: SYN07582.
BT007251 - Homo sapiens butyrophilin, subfamily 3, member A3 mRNA, complete cds.
DQ892596 - Synthetic construct clone IMAGE:100005226; FLH188015.01X; RZPDo839F07150D butyrophilin, subfamily 3, member A3 (BTN3A3) gene, encodes complete protein.
EU176707 - Synthetic construct Homo sapiens clone IMAGE:100011501; FLH188014.01L; RZPDo839F06255D butyrophilin, subfamily 3, member A3 (BTN3A3) gene, encodes complete protein.
KJ893023 - Synthetic construct Homo sapiens clone ccsbBroadEn_02417 BTN3A3 gene, encodes complete protein.
KM244652 - Homo sapiens butyrophilin subfamily 3 member A3 secreted isoform (BTN3A3) mRNA, complete cds.
JD504281 - Sequence 485305 from Patent EP1572962.
JD046340 - Sequence 27364 from Patent EP1572962.
JD345408 - Sequence 326432 from Patent EP1572962.
JD401252 - Sequence 382276 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O00478 (Reactome details) participates in the following event(s):

R-HSA-8851038 BTN3A1 binds prenylated phosphoantigens
R-HSA-8851680 Butyrophilin (BTN) family interactions
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: BT3A3_HUMAN, BTF3, ENST00000361232.1, ENST00000361232.2, ENST00000361232.3, ENST00000361232.4, ENST00000361232.5, ENST00000361232.6, NM_197974, O00478, uc011dkn.1, uc011dkn.2, uc011dkn.3
UCSC ID: ENST00000361232.7
RefSeq Accession: NM_197974
Protein: O00478 (aka BT3A3_HUMAN)
CCDS: CCDS4612.2

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