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

Summary

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

Location:: 5p13.1

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (39105252..39274528, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (39354788..39524036, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (39105354..39270751, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S897 (e-PCR)
- UniSTS:85554

FYB_2226 (e-PCR)
- UniSTS:280681

RH44564 (e-PCR)
- UniSTS:19580

SGC34783 (e-PCR)
- UniSTS:82078

STS-W95074 (e-PCR)
- UniSTS:10156

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

NG_029596.2 RefSeqGene

Range

5009..170406

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1351

mRNA and Protein(s)

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
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
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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

39105252..39274528 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_047417073.1 → XP_047273029.1 FYN-binding protein 1 isoform X2
XM_047417072.1 → XP_047273028.1 FYN-binding protein 1 isoform X2
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
XM_047417074.1 → XP_047273030.1 FYN-binding protein 1 isoform X2
XM_047417071.1 → XP_047273027.1 FYN-binding protein 1 isoform X1
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
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
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
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
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