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    FYB1 FYN binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 2533, updated on 3-Apr-2024

    Summary

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    Official Symbol
    FYB1provided by HGNC
    Official Full Name
    FYN binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:4036
    See related
    Ensembl:ENSG00000082074 MIM:602731; AllianceGenome:HGNC:4036
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FYB; ADAP; THC3; PRO0823; SLAP130; SLAP-130
    Summary
    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]
    Expression
    Broad expression in appendix (RPKM 36.5), lymph node (RPKM 32.7) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FYB1 in Genome Data Viewer
    Location:
    5p13.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (39105252..39274528, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (39354788..39524036, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (39105354..39270751, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:38878837-38879338 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:38879339-38879838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:38907734-38908234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:38908235-38908735 Neighboring gene oncostatin M receptor Neighboring gene NANOG hESC enhancer GRCh37_chr5:38916726-38917255 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_84767 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_84768 Neighboring gene RPTOR independent companion of MTOR complex 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:39011967-39012173 Neighboring gene androgen induced 1 pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:39073334-39073860 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:39074387-39074913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22495 Neighboring gene Sharpr-MPRA regulatory region 14991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22497 Neighboring gene Sharpr-MPRA regulatory region 12253 Neighboring gene golgin A5 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:39220741-39221242 Neighboring gene Sharpr-MPRA regulatory region 14491 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:39242438-39242627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22498 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:39283272-39283436 Neighboring gene complement C9 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:39380837-39382036 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:39382313-39383512 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_84809 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_84831 Neighboring gene DAB adaptor protein 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. FYB methylation in peripheral blood as a potential marker for the early-stage lung cancer: a case-control study in Chinese population. Li M, et al. Biomarkers, 2022 Feb. PMID 34882057
    2. Tyrosine-phosphorylation of the scaffold protein ADAP and its role in T cell signaling. Kuropka B, et al. Expert Rev Proteomics, 2016 Jun. PMID 27258783
    3. Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia. Levin C, et al. J Thromb Haemost, 2015 Jul. PMID 25876182
    4. Short Communication FYB polymorphisms in Brazilian patients with type I diabetes mellitus and autoimmune polyglandular syndrome type III. Addobbati CJ, et al. Genet Mol Res, 2015 Jan 15. PMID 25729932
    5. Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report. Hamamy H, et al. BMC Med Genet, 2014 Dec 17. PMID 25516138, Free PMC Article

    See all (67) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FYB methylation in peripheral blood as a potential marker for the early-stage lung cancer: a case-control study in Chinese population.
      Title: FYB methylation in peripheral blood as a potential marker for the early-stage lung cancer: a case-control study in Chinese population.
    2. The Multiple Roles of the Cytosolic Adapter Proteins ADAP, SKAP1 and SKAP2 for TCR/CD3 -Mediated Signaling Events.
      Title: The Multiple Roles of the Cytosolic Adapter Proteins ADAP, SKAP1 and SKAP2 for TCR/CD3 -Mediated Signaling Events.
    3. Findings reveal that ADAP acts upstream of SLP-76 to convert labile, Ca(2+)-competent microclusters into stable adhesive junctions with enhanced signaling potential.
      Title: ADAP is an upstream regulator that precedes SLP-76 at sites of TCR engagement and stabilizes signaling microclusters.
    4. results of this study indicate that a novel T cell adaptor protein, activation-dependent, raft-recruited ADAP-like phosphoprotein (ARAP), plays a unique role in T cells as a part of both the proximal activation signaling and inside-out signaling pathways that result in integrin activation and T cell adhesion
      Title: ARAP, a Novel Adaptor Protein, Is Required for TCR Signaling and Integrin-Mediated Adhesion.
    5. Ubc9 is an essential regulator of ADAP where it is required for TCR-induced membrane recruitment of the small GTPase Rap1 and its effector protein RapL and for activation of the small GTPase Rac1 in T cell adhesion.
      Title: Ubc9 Binds to ADAP and Is Required for Rap1 Membrane Recruitment, Rac1 Activation, and Integrin-Mediated T Cell Adhesion.
    6. Current knowledge of the functions of the adapter protein ADAP in T cell signaling with a focus on the role of individual phosphotyrosine (pY) motifs for SH2 domain mediated interactions is presented.
      Title: Tyrosine-phosphorylation of the scaffold protein ADAP and its role in T cell signaling.
    7. A distinct set of proteins interaction partners required for chemokine-directed T cell migration is attracted by phosphotyrosine 571 of ADAP, including ZAP70.
      Title: Analysis of Phosphorylation-dependent Protein Interactions of Adhesion and Degranulation Promoting Adaptor Protein (ADAP) Reveals Novel Interaction Partners Required for Chemokine-directed T cell Migration.
    8. Data strongly suggest that chemokine-stimulated associations between Vav1, SLP-76, and ADAP facilitate Rac1 activation and alpha4beta1-mediated adhesion, whereas Pyk2 opposes this adhesion by limiting Rac1 activation.
      Title: Positive and negative regulation by SLP-76/ADAP and Pyk2 of chemokine-stimulated T-lymphocyte adhesion mediated by integrin α4β1.
    9. FYB nonsense mutations in humans causing small-platelet thrombocytopenia and a significant bleeding tendency.
      Title: Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia.
    10. Data (including data from studies in knockout/transgenic mice) suggest that ADAP regulates positive feedback loop of TGFbeta1 production and TGFbeta1-induced CD103 expression in CD8+ T-lymphocytes and protects against influenza H5N1 virus infection.
      Title: The Immune Adaptor ADAP Regulates Reciprocal TGF-β1-Integrin Crosstalk to Protect from Influenza Virus Infection.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Thrombocytopenia 3
    MedGen: C2678311 OMIM: 273900 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables signaling receptor binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in T cell receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in T cell receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in immune response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in integrin-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in actin cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    FYN-binding protein 1
    Names
    FYB-120/130
    FYN-T-binding protein
    SLP-76-associated phosphoprotein
    adhesion and degranulation-promoting adaptor protein
    p120/p130

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029596.2 RefSeqGene

      Range
      5009..170406
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1351

    mRNA and Protein(s)

    1. NM_001243093.2 → NP_001230022.1  FYN-binding protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001230022.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AC008964, AK290403, AK297077
      Consensus CDS
      CCDS58945.1
      UniProtKB/TrEMBL
      Q05DE9
      Related
      ENSP00000493623.1, ENST00000646045.2
      Conserved Domains (2) summary
      pfam14603
      Location:757 → 839
      hSH3; Helically-extended SH3 domain
      cl17036
      Location:518 → 612
      SH3; Src Homology 3 domain superfamily

    2. NM_001349333.2 → NP_001336262.1  FYN-binding protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses a downstream start codon compared to variant 3. The resulting isoform (1) has a shorter N-terminus compared to isoform 3. Variants 1 and 4 encode the same isoform (1).
      Source sequence(s)
      AC008964, AC025471, AK297077, BC117449, BQ015514, DA452064
      Consensus CDS
      CCDS54848.1
      UniProtKB/TrEMBL
      Q05DE9
      Conserved Domains (3) summary
      pfam14603
      Location:742 → 829
      hSH3; Helically-extended SH3 domain
      cl17036
      Location:508 → 602
      SH3; Src Homology 3 domain superfamily
      cl26464
      Location:40 → 427
      Atrophin-1; Atrophin-1 family

    3. NM_001465.6 → NP_001456.3  FYN-binding protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001456.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and uses a downstream start codon compared to variant 3. The resulting isoform (1) has a shorter N-terminus compared to isoform 3. Variants 1 and 4 encode the same isoform (1).
      Source sequence(s)
      AC008964, AK297077, AV761195, BC117449, DA585094
      Consensus CDS
      CCDS54848.1
      UniProtKB/TrEMBL
      Q05DE9
      Related
      ENSP00000425845.3, ENST00000512982.4
      Conserved Domains (3) summary
      pfam14603
      Location:742 → 829
      hSH3; Helically-extended SH3 domain
      cl17036
      Location:508 → 602
      SH3; Src Homology 3 domain superfamily
      cl26464
      Location:40 → 427
      Atrophin-1; Atrophin-1 family

    4. NM_018594.2 → NP_061064.2  FYN-binding protein 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 3. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 3.
      Source sequence(s)
      AC008964, AC010633, AC025471
      UniProtKB/TrEMBL
      Q05DE9
      Conserved Domains (3) summary
      pfam14603
      Location:706 → 793
      hSH3; Helically-extended SH3 domain
      cl17036
      Location:518 → 612
      SH3; Src Homology 3 domain superfamily
      cl26464
      Location:50 → 437
      Atrophin-1; Atrophin-1 family

    5. NM_199335.5 → NP_955367.1  FYN-binding protein 1 isoform 2

      See identical proteins and their annotated locations for NP_955367.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, uses a downstream start codon, and lacks an alternate in-frame exon in the 3' coding region compared to variant 3. The resulting isoform (2) has a shorter N-terminus and lacks an internal segment compared to isoform 3.
      Source sequence(s)
      AC008964, AF001862, AK297077, AV761195, BC015933, BQ015514, DA585094
      Consensus CDS
      CCDS47200.1
      UniProtKB/Swiss-Prot
      A8K2Y8, B4DLN2, E9PBV9, O00359, O15117, Q9NZI9
      UniProtKB/TrEMBL
      Q05DE9
      Related
      ENSP00000316460.7, ENST00000351578.12
      Conserved Domains (2) summary
      pfam14603
      Location:701 → 783
      hSH3; Helically-extended SH3 domain
      cl17036
      Location:508 → 602
      SH3; Src Homology 3 domain superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      39105252..39274528 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006714464.4 → XP_006714527.1  FYN-binding protein 1 isoform X2

      See identical proteins and their annotated locations for XP_006714527.1

      UniProtKB/TrEMBL
      Q05DE9
      Conserved Domains (3) summary
      pfam14603
      Location:742 → 829
      hSH3; Helically-extended SH3 domain
      cl17036
      Location:508 → 602
      SH3; Src Homology 3 domain superfamily
      cl26464
      Location:40 → 427
      Atrophin-1; Atrophin-1 family

    2. XM_047417073.1 → XP_047273029.1  FYN-binding protein 1 isoform X2

    3. XM_047417072.1 → XP_047273028.1  FYN-binding protein 1 isoform X2

    4. XM_011514011.3 → XP_011512313.1  FYN-binding protein 1 isoform X3

      UniProtKB/TrEMBL
      Q05DE9
      Conserved Domains (3) summary
      pfam14603
      Location:706 → 793
      hSH3; Helically-extended SH3 domain
      cl17036
      Location:518 → 612
      SH3; Src Homology 3 domain superfamily
      cl26464
      Location:50 → 437
      Atrophin-1; Atrophin-1 family

    5. XM_047417074.1 → XP_047273030.1  FYN-binding protein 1 isoform X2

    6. XM_047417071.1 → XP_047273027.1  FYN-binding protein 1 isoform X1

    7. XM_011514010.2 → XP_011512312.1  FYN-binding protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011512312.1

      UniProtKB/TrEMBL
      Q05DE9
      Conserved Domains (3) summary
      pfam14603
      Location:742 → 829
      hSH3; Helically-extended SH3 domain
      cl17036
      Location:508 → 602
      SH3; Src Homology 3 domain superfamily
      cl26464
      Location:40 → 427
      Atrophin-1; Atrophin-1 family

    8. XM_011514008.3 → XP_011512310.1  FYN-binding protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011512310.1

      UniProtKB/TrEMBL
      Q05DE9
      Conserved Domains (2) summary
      pfam14603
      Location:757 → 839
      hSH3; Helically-extended SH3 domain
      cl17036
      Location:518 → 612
      SH3; Src Homology 3 domain superfamily

    9. XM_011514009.1 → XP_011512311.1  FYN-binding protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011512311.1

      UniProtKB/TrEMBL
      Q05DE9
      Conserved Domains (3) summary
      pfam14603
      Location:742 → 829
      hSH3; Helically-extended SH3 domain
      cl17036
      Location:508 → 602
      SH3; Src Homology 3 domain superfamily
      cl26464
      Location:40 → 427
      Atrophin-1; Atrophin-1 family

    10. XM_011514012.4 → XP_011512314.1  FYN-binding protein 1 isoform X4

      UniProtKB/TrEMBL
      Q05DE9
      Conserved Domains (1) summary
      cl17036
      Location:518 → 612
      SH3; Src Homology 3 domain superfamily

    11. XM_011514013.4 → XP_011512315.1  FYN-binding protein 1 isoform X5

      Conserved Domains (1) summary
      PHA03247
      Location:50 → 437
      PHA03247; large tegument protein UL36; Provisional

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      39354788..39524036 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352288.1 → XP_054208263.1  FYN-binding protein 1 isoform X2

    2. XM_054352290.1 → XP_054208265.1  FYN-binding protein 1 isoform X3

    3. XM_054352287.1 → XP_054208262.1  FYN-binding protein 1 isoform X1

    4. XM_054352289.1 → XP_054208264.1  FYN-binding protein 1 isoform X2

    5. XM_054352291.1 → XP_054208266.1  FYN-binding protein 1 isoform X4

    6. XM_054352292.1 → XP_054208267.1  FYN-binding protein 1 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15117.2 GenPept UniProtKB/Swiss-Prot:O15117

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