Human Gene FYB1 (ENST00000646045.2) from GENCODE V44
  Description: Homo sapiens FYN binding protein 1 (FYB1), transcript variant 3, mRNA. (from RefSeq NM_001243093)
RefSeq Summary (NM_001243093): The protein encoded by this gene is an adapter for the FYN protein and LCP2 signaling cascades in T-cells. The encoded protein is involved in platelet activation and controls the expression of interleukin-2. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011].
Gencode Transcript: ENST00000646045.2
Gencode Gene: ENSG00000082074.19
Transcript (Including UTRs)
   Position: hg38 chr5:39,105,252-39,270,649 Size: 165,398 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg38 chr5:39,107,443-39,270,571 Size: 163,129 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsRNA-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 (chr5:39,105,252-39,270,649)mRNA (may differ from genome)Protein (839 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsLynx
MalacardsMGIneXtProtOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FYB_HUMAN
DESCRIPTION: RecName: Full=FYN-binding protein; AltName: Full=Adhesion and degranulation promoting adaptor protein; Short=ADAP; AltName: Full=FYB-120/130; Short=p120/p130; AltName: Full=FYN-T-binding protein; AltName: Full=SLAP-130; AltName: Full=SLP-76-associated phosphoprotein;
FUNCTION: Acts as an adapter protein of the FYN and LCP2 signaling cascades in T-cells. Modulates the expression of interleukin-2 (IL-2). Involved in platelet activation. Prevents the degradation of SKAP1 and SKAP2. May play a role in linking T-cell signaling to remodeling of the actin cytoskeleton.
SUBUNIT: Part of a complex consisting of SKAP2, FYB and PTPNS1. Part of a complex consisting of SKAP2, FYB and LILRB3 (By similarity). Interacts with FYN, LCP2, SKAP1 and SKAP2. Interacts with FASLG. Interacts with EVL.
INTERACTION: P16333:NCK1; NbExp=3; IntAct=EBI-1753267, EBI-389883; Q86WV1:SKAP1; NbExp=2; IntAct=EBI-1753267, EBI-2477305;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus (By similarity).
TISSUE SPECIFICITY: Expressed in hematopoietic tissues such as myeloid and T-cells, spleen and thymus. Not expressed in B-cells, nor in non-lymphoid tissues.
PTM: T-cell receptor ligation leads to increased tyrosine phosphorylation.
SIMILARITY: Contains 1 SH3 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


-  MalaCards Disease Associations
  MalaCards Gene Search: FYB1
Diseases sorted by gene-association score: thrombocytopenia 3* (908)
* = Manually curated disease association

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.67 RPKM in Whole Blood
Total median expression: 58.78 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 -12.8078-0.164 Picture PostScript Text
3' UTR -452.242191-0.206 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
IPR011511 - SH3_2
IPR001452 - SH3_domain

Pfam Domains:
PF07653 - Variant SH3 domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1RI9 - NMR MuPIT 2GTJ - NMR MuPIT 2GTO - NMR MuPIT


ModBase Predicted Comparative 3D Structure on O15117
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-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0044877 macromolecular complex binding

Biological Process:
GO:0006468 protein phosphorylation
GO:0006607 NLS-bearing protein import into nucleus
GO:0006955 immune response
GO:0007165 signal transduction
GO:0008150 biological_process
GO:0035556 intracellular signal transduction
GO:0050852 T cell receptor signaling pathway
GO:0072659 protein localization to plasma membrane

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0015629 actin cytoskeleton
GO:0030054 cell junction


-  Descriptions from all associated GenBank mRNAs
  BX647195 - Homo sapiens mRNA; cDNA DKFZp686G02244 (from clone DKFZp686G02244).
BX647196 - Homo sapiens mRNA; cDNA DKFZp686I02244 (from clone DKFZp686I02244).
AF001862 - Homo sapiens FYN binding protein mRNA, complete cds.
AK290403 - Homo sapiens cDNA FLJ77052 complete cds, highly similar to Homo sapiens FYN binding protein (FYB-120/130) (FYB), transcript variant 1, mRNA.
AK297077 - Homo sapiens cDNA FLJ56106 complete cds, highly similar to Homo sapiens FYN binding protein (FYB-120/130) (FYB), transcript variant 1, mRNA.
BC117449 - Homo sapiens FYN binding protein (FYB-120/130), mRNA (cDNA clone MGC:151058 IMAGE:40126000), complete cds.
BC143645 - Homo sapiens FYN binding protein (FYB-120/130), mRNA (cDNA clone MGC:177176 IMAGE:9052159), complete cds.
U93049 - Human SLP-76 associated protein mRNA, complete cds.
AF198052 - Homo sapiens EVH1 domain binding protein mRNA, complete cds.
HQ258522 - Synthetic construct Homo sapiens clone IMAGE:100072951 Unknown protein gene, encodes complete protein.
KJ896839 - Synthetic construct Homo sapiens clone ccsbBroadEn_06233 FYB gene, encodes complete protein.
BC015933 - Homo sapiens FYN binding protein (FYB-120/130), mRNA (cDNA clone IMAGE:3919758), partial cds.
AK130159 - Homo sapiens cDNA FLJ26649 fis, clone MPE04760, highly similar to FYN-binding protein.
BC017775 - Homo sapiens FYN binding protein (FYB-120/130), mRNA (cDNA clone IMAGE:4692106).
BC058827 - Homo sapiens FYN binding protein (FYB-120/130), mRNA (cDNA clone IMAGE:4295409), partial cds.
AK123918 - Homo sapiens cDNA FLJ41924 fis, clone PERIC2003287.

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

Protein O15117 (Reactome details) participates in the following event(s):

R-HSA-391151 p-4Y-SIRPA:CD47:SKAP2 binds FYB
R-HSA-430135 p-SLP-76 binds ADAP
R-HSA-430201 p-SLP-76:ADAP binds Ena/VASP
R-HSA-391160 Signal regulatory protein family interactions
R-HSA-202433 Generation of second messenger molecules
R-HSA-1500931 Cell-Cell communication
R-HSA-202403 TCR signaling
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A8K2Y8, E9PBV9, ENST00000646045.1, FYB, FYB_HUMAN, NM_001243093, O00359, O15117, Q9NZI9, SLAP130, uc011cpl.1, uc011cpl.2, uc011cpl.3, uc011cpl.4, uc011cpl.5
UCSC ID: ENST00000646045.2
RefSeq Accession: NM_001243093
Protein: O15117 (aka FYB_HUMAN)
CCDS: CCDS54848.1, CCDS58945.1

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