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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-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 1 3
  • 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 Thrombocytopenia. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and TCR signaling in naive CD4+ T cells. An important paralog of this gene is PRAM1.

UniProtKB/Swiss-Prot for FYB1 Gene

  • 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.

Gene Wiki entry for FYB1 Gene

Additional gene information for FYB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 669.3 +79.0 79013 20.7 HDGF PKNOX1 SMAD1 FOXA2 ARNT YBX1 ZNF766 E2F8 FOS REST FYB1 RICTOR C9 DAB2 GC05P039191
GH05J039216 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 662.7 +56.0 56019 3.9 HDGF PKNOX1 ATF1 RB1 ZNF2 BRCA1 RAD21 RFX5 YY1 ARID2 FYB1 RICTOR GC05P039191
GH05J039272 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.2 204 3.2 BRD4 IRF2 MAX ELF1 GABPA IKZF1 ETV6 IKZF2 BCLAF1 SPI1 FYB1 C9 GC05P039191
GH05J039072 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.9 +199.5 199521 5.9 CLOCK DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 MEF2D RCOR2 RICTOR FYB1 OSMR GC05M039106
GH05J039173 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 23.2 +97.1 97141 7.4 HDAC1 PKNOX1 CHAMP1 TCF12 ZNF766 EGR1 ZFP91 ATF7 IKZF2 CEBPB FYB1 RICTOR GOLGA5P1 GC05P039191
- 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

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. Part of a complex consisting of SKAP2, FYB1 and LILRB3 (By similarity). Interacts with FYN (PubMed:27335501, PubMed:9207119, PubMed:10942756, PubMed:15849195). Interacts with LCP2 (PubMed:27335501, PubMed:9207119, PubMed:10942756). Interacts with SKAP1 (PubMed:27335501, PubMed:9755858, PubMed:9748251, PubMed:9671755, PubMed:10856234, PubMed:15849195, PubMed:16461356). Interacts with SKAP2 (PubMed:9755858, PubMed:9671755). 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):
  • Predicted intracellular proteins

Protein Domains for FYB1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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. 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.

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 9207119
GO:0008289 lipid 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.

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
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for FYB1 Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FYB1 Gene

Pathways & Interactions for FYB1 Gene

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

Pathways by source for FYB1 Gene

Gene Ontology (GO) - Biological Process for FYB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation TAS 9207119
GO:0006607 NLS-bearing protein import into nucleus TAS 9207119
GO:0006955 immune response IEA --
GO:0007165 signal transduction TAS 9207119
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with FYB1: view

No data available for SIGNOR curated interactions for FYB1 Gene

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

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
ECgene alternative splicing isoforms for
FYB1

Expression for FYB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of FYB1 Gene:

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 33
  • 98.36 (n)
dog
(Canis familiaris)
Mammalia FYB 34 33
  • 87.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FYB 34 33
  • 85.54 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fyb 33
  • 81.5 (n)
mouse
(Mus musculus)
Mammalia Fyb 16 34 33
  • 81.48 (n)
oppossum
(Monodelphis domestica)
Mammalia FYB 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FYB 34
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves FYB 34 33
  • 64.03 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FYB 34
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fyb 33
  • 56.05 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-147j13.3 33
  • 51.63 (n)
FYB (2 of 2) 34
  • 50 (a)
OneToMany
FYB (1 of 2) 34
  • 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 from dbSNP and Humsavar for FYB1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1060505056 pathogenic, Thrombocytopenia 3 39,138,665(-) ATAT/AT coding_sequence_variant, stop_gained
rs745672593 pathogenic, Thrombocytopenia 3 39,202,568(-) C/A/G/T coding_sequence_variant, missense_variant, stop_gained
rs199923708 likely-benign, not specified 39,126,121(-) A/G coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant
rs201570574 uncertain-significance, not specified 39,202,016(-) C/A coding_sequence_variant, missense_variant
rs1000010838 -- 39,252,466(-) A/C/G genic_upstream_transcript_variant, intron_variant

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

(2) MalaCards diseases for FYB1 Gene - From: HGMD, OMIM, ClinVar, GTR, and GeneCards

Disorder Aliases PubMed IDs
thrombocytopenia 3
  • thc3
thrombocytopenia
- 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. 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 22 58
  2. 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 22 58
  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 22 58
  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 22 58
  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 22 58

Products for FYB1 Gene

Sources for FYB1 Gene

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