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] See more...

Aliases for FYB1 Gene

Aliases for FYB1 Gene

  • FYN Binding Protein 1 2 3 5
  • Adhesion And Degranulation Promoting Adaptor Protein 2 4
  • SLP-76-Associated Phosphoprotein 3 4
  • FYN-Binding Protein 1 3 4
  • FYN-T-Binding Protein 3 4
  • FYB-120/130 3 4
  • P120/P130 3 4
  • SLAP-130 3 4
  • SLAP130 3 4
  • ADAP 3 4
  • FYB 3 4
  • Adhesion And Degranulation-Promoting Adaptor Protein 3
  • FYN-Binding Protein (FYB-120/130) 2
  • FYN-Binding Protein 3
  • FYN Binding Protein 2
  • PRO0823 3
  • THC3 3

External Ids for FYB1 Gene

Previous HGNC Symbols for FYB1 Gene

  • FYB

Summaries for FYB1 Gene

Entrez Gene Summary for FYB1 Gene

  • 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]

GeneCards Summary for FYB1 Gene

FYB1 (FYN Binding Protein 1) is a Protein Coding gene. Diseases associated with FYB1 include Thrombocytopenia 3 and Congenital Autosomal Recessive Small-Platelet Thrombocytopenia. Among its related pathways are Class I MHC mediated antigen processing and presentation and Yersinia infection. An important paralog of this gene is FYB2.

UniProtKB/Swiss-Prot Summary for FYB1 Gene

  • Acts as an adapter protein of the FYN and LCP2 signaling cascades in T-cells (By similarity). May play a role in linking T-cell signaling to remodeling of the actin cytoskeleton (PubMed:10747096, PubMed:16980616). Modulates the expression of IL2 (By similarity). Involved in platelet activation (By similarity). Prevents the degradation of SKAP1 and SKAP2 (PubMed:15849195). May be involved in high affinity immunoglobulin epsilon receptor signaling in mast cells (By similarity).

Gene Wiki entry for FYB1 Gene

Additional gene information for FYB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FYB1 Gene

Genomics for FYB1 Gene

GeneHancer (GH) Regulatory Elements for FYB1 Gene

Promoters and enhancers for FYB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J039185 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 519.3 +79.0 79013 20.7 TCF12 GTF2E2 FOS PHB2 ZBTB5 ZBTB11 TCF7 AFF1 DNMT1 TOE1 FYB1 FJ601672-001 C9 DAB2 RICTOR HSALNG0041309 HSALNG0041310
GH05J039207 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 520 +60.6 60635 13.1 CTCF PHB2 ZIC2 TCF7 REST DNMT1 MYC TGIF2 RAD21 TRIM22 FYB1 RICTOR OSMR HSALNG0041310 FJ601672-001
GH05J039268 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 500.7 +2.1 2065 6.9 GABPA IRF1 SPI1 FOSL1 IRF2 ELF1 IKZF1 REST ETV1 MAX FYB1 piR-45471-478 piR-31162-392 piR-61029-121 piR-55650-530 C9 RICTOR DAB2 lnc-C9-2 HSALNG0041310
GH05J039072 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.9 +199.8 199756 6.3 FOXK2 CTCF ZSCAN5C SIN3A TCF12 POLR2G GTF2E2 PHF8 ZFX POLR2A RICTOR lnc-OSMR-2 FYB1 DAB2 OSMR RF00017-4587
GH05J039173 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 23.2 +97.1 97141 7.4 GTF2E2 AFF1 RBM25 OSR2 HDAC3 LEF1 MBD2 ZNF316 FOSL1 NCOR1 FYB1 RICTOR FJ601678-021 GOLGA5P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FYB1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FYB1

Genomic Locations for FYB1 Gene

Genomic Locations for FYB1 Gene
chr5:39,105,252-39,274,528
(GRCh38/hg38)
Size:
169,277 bases
Orientation:
Minus strand
chr5:39,105,338-39,274,630
(GRCh37/hg19)
Size:
169,293 bases
Orientation:
Minus strand

Genomic View for FYB1 Gene

Genes around FYB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FYB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FYB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FYB1 Gene

Proteins for FYB1 Gene

  • Protein details for FYB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15117-FYB1_HUMAN
    Recommended name:
    FYN-binding protein 1
    Protein Accession:
    O15117
    Secondary Accessions:
    • A8K2Y8
    • B4DLN2
    • E9PBV9
    • O00359
    • Q9NZI9

    Protein attributes for FYB1 Gene

    Size:
    783 amino acids
    Molecular mass:
    85387 Da
    Quaternary structure:
    • Part of a complex consisting of SKAP2, FYB1 and PTPNS1 (By similarity). Part of a complex consisting of SKAP2, FYB1 and LILRB3 (By similarity). Part of a complex consisting of SKAP1, FYB1 and CLNK (By similarity). Interacts with CLNK (via its SH2 domain); this interaction allows SKAP1 and FYB1 to recruit FYN to the complex, thus promoting the phosphorylation of CLNK by FYN (By similarity). Interacts with FYN (PubMed:9207119, PubMed:15849195, PubMed:27335501). Interacts with LCP2 (PubMed:9207119, PubMed:27335501). Interacts with SKAP1 (PubMed:9755858, PubMed:9748251, PubMed:9671755, PubMed:10856234, PubMed:15849195, PubMed:16461356, PubMed:27335501). Interacts with SKAP2 (PubMed:9755858, PubMed:9671755, PubMed:10942756). Interacts with FASLG (PubMed:19807924). Interacts with EVL (PubMed:10747096). Interacts with TMEM47 (By similarity). Interacts with LCK (PubMed:27335501).

    Three dimensional structures from OCA and Proteopedia for FYB1 Gene

    Alternative splice isoforms for FYB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FYB1 Gene

Post-translational modifications for FYB1 Gene

  • T-cell receptor ligation leads to increased tyrosine phosphorylation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FYB1 Gene

Domains & Families for FYB1 Gene

Gene Families for FYB1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for FYB1 Gene

Blocks:
  • Variant SH3
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FYB1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56106, highly similar to Homo sapiens FYN binding protein (FYB-120/130) (FYB), transcript variant 1, mRNA (B4DLN2_HUMAN)
  • SLP-76-associated phosphoprotein (FYB_HUMAN)
  • FYB protein (Q05DE9_HUMAN)
  • FYN binding protein (FYB-120/130), isoform CRA_d (Q9NZI9_HUMAN)
genes like me logo Genes that share domains with FYB1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FYB1 Gene

Function for FYB1 Gene

Molecular function for FYB1 Gene

UniProtKB/Swiss-Prot Function:
Acts as an adapter protein of the FYN and LCP2 signaling cascades in T-cells (By similarity). May play a role in linking T-cell signaling to remodeling of the actin cytoskeleton (PubMed:10747096, PubMed:16980616). Modulates the expression of IL2 (By similarity). Involved in platelet activation (By similarity). Prevents the degradation of SKAP1 and SKAP2 (PubMed:15849195). May be involved in high affinity immunoglobulin epsilon receptor signaling in mast cells (By similarity).

Phenotypes From GWAS Catalog for FYB1 Gene

Gene Ontology (GO) - Molecular Function for FYB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding TAS 10747096
GO:0005515 protein binding IPI,IEA 10409671
GO:0008289 lipid binding IEA --
GO:0044877 protein-containing complex binding IEA --
genes like me logo Genes that share ontologies with FYB1: view
genes like me logo Genes that share phenotypes with FYB1: view

Human Phenotype Ontology for FYB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FYB1 Gene

MGI Knock Outs for FYB1:
  • Fyb Fyb<tm1b(EUCOMM)Hmgu>
  • Fyb Fyb<tm1Gak>

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FYB1 Gene

Localization for FYB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FYB1 Gene

Cytoplasm. Nucleus. Cell junction. Note=Colocalizes with TMEM47 at cell-cell contacts in podocytes. {ECO:0000250 UniProtKB:O35601}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FYB1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 4
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FYB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IBA 21873635
GO:0015629 actin cytoskeleton TAS,IEA 10747096
genes like me logo Genes that share ontologies with FYB1: view

Pathways & Interactions for FYB1 Gene

genes like me logo Genes that share pathways with FYB1: view

Pathways by source for FYB1 Gene

4 Qiagen pathways for FYB1 Gene
  • IP3 Pathway
  • ITK and TCR Signaling
  • Rap1 Pathway
  • TCR Signaling
1 Cell Signaling Technology pathway for FYB1 Gene

SIGNOR curated interactions for FYB1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for FYB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response IEA --
GO:0007229 integrin-mediated signaling pathway IBA 21873635
GO:0008150 biological_process ND --
GO:0050852 T cell receptor signaling pathway TAS,IBA 9207119
GO:0072659 protein localization to plasma membrane IBA 21873635
genes like me logo Genes that share ontologies with FYB1: view

Drugs & Compounds for FYB1 Gene

(1) Drugs for FYB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for FYB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FYB1: view

Transcripts for FYB1 Gene

mRNA/cDNA for FYB1 Gene

5 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FYB1 Gene

No ASD Table

Relevant External Links for FYB1 Gene

GeneLoc Exon Structure for
FYB1

Expression for FYB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FYB1

mRNA Expression by UniProt/SwissProt for FYB1 Gene:

O15117-FYB1_HUMAN
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.

Evidence on tissue expression from TISSUES for FYB1 Gene

  • Blood(4.6)
  • Nervous system(4.3)
  • Liver(4.1)
  • Lung(2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with FYB1: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FYB1 Gene

Orthologs for FYB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FYB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FYB 30
  • 98.36 (n)
dog
(Canis familiaris)
Mammalia FYB 31 30
  • 87.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FYB 31 30
  • 85.54 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fyb 30
  • 81.5 (n)
mouse
(Mus musculus)
Mammalia Fyb 17 31 30
  • 81.48 (n)
oppossum
(Monodelphis domestica)
Mammalia FYB 31
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FYB 31
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves FYB 31 30
  • 64.03 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FYB 31
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fyb 30
  • 56.05 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-147j13.3 30
  • 51.63 (n)
FYB (2 of 2) 31
  • 50 (a)
OneToMany
FYB (1 of 2) 31
  • 33 (a)
OneToMany
Species where no ortholog for FYB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FYB1 Gene

ENSEMBL:
Gene Tree for FYB1 (if available)
TreeFam:
Gene Tree for FYB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FYB1: view image

Paralogs for FYB1 Gene

Paralogs for FYB1 Gene

genes like me logo Genes that share paralogs with FYB1: view

Variants for FYB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FYB1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
728945 Benign: not provided 39,202,142(-) T/G SYNONYMOUS_VARIANT
778186 Benign: not provided 39,201,818(-) G/T INTRON_VARIANT
778318 Benign: not provided 39,201,966(-) T/C MISSENSE_VARIANT
rs1060505056 Pathogenic: Thrombocytopenia 3 39,138,664(-) CAT/C NONSENSE
rs199923708 Likely Benign: not specified 39,126,121(-) A/G MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for FYB1 Gene

Structural Variations from Database of Genomic Variants (DGV) for FYB1 Gene

Variant ID Type Subtype PubMed ID
esv1006514 CNV insertion 20482838
esv2730112 CNV deletion 23290073
esv3397789 CNV insertion 20981092
esv3604776 CNV loss 21293372
esv3604777 CNV gain 21293372
esv3604779 CNV loss 21293372
esv3604780 CNV gain 21293372
esv3604781 CNV loss 21293372
esv3604783 CNV gain 21293372
nsv4804 CNV insertion 18451855
nsv4805 CNV deletion 18451855
nsv529023 CNV loss 19592680
nsv597860 CNV gain 21841781
nsv597871 CNV loss 21841781
nsv950671 CNV duplication 24416366

Variation tolerance for FYB1 Gene

Residual Variation Intolerance Score: 52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.37; 63.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FYB1 Gene

Human Gene Mutation Database (HGMD)
FYB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FYB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FYB1 Gene

Disorders for FYB1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for FYB1 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search FYB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FYB1_HUMAN
  • Thrombocytopenia 3 (THC3) [MIM:273900]: Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC3 is an autosomal recessive form characterized by onset in infancy. {ECO:0000269 PubMed:25516138, ECO:0000269 PubMed:25876182}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FYB1

genes like me logo Genes that share disorders with FYB1: view

No data available for Genatlas for FYB1 Gene

Publications for FYB1 Gene

  1. Cloning of a novel T-cell protein FYB that binds FYN and SH2-domain-containing leukocyte protein 76 and modulates interleukin 2 production. (PMID: 9207119) da Silva AJ … Rudd CE (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 23 54
  2. Molecular cloning of SLAP-130, an SLP-76-associated substrate of the T cell antigen receptor-stimulated protein tyrosine kinases. (PMID: 9115214) Musci MA … Koretzky GA (The Journal of biological chemistry 1997) 2 3 4 23 54
  3. Regulation and function of SKAP-55 non-canonical motif binding to the SH3c domain of adhesion and degranulation-promoting adaptor protein. (PMID: 16461356) Duke-Cohan JS … Rudd CE (The Journal of biological chemistry 2006) 3 4 23 54
  4. Fyn-binding protein (Fyb)/SLP-76-associated protein (SLAP), Ena/vasodilator-stimulated phosphoprotein (VASP) proteins and the Arp2/3 complex link T cell receptor (TCR) signaling to the actin cytoskeleton. (PMID: 10747096) Krause M … Wehland J (The Journal of cell biology 2000) 3 4 23 54
  5. FYB (FYN binding protein) serves as a binding partner for lymphoid protein and FYN kinase substrate SKAP55 and a SKAP55-related protein in T cells. (PMID: 9671755) Liu J … Rudd CE (Proceedings of the National Academy of Sciences of the United States of America 1998) 3 4 23 54

Products for FYB1 Gene

Sources for FYB1 Gene