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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
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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

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
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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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