FYB1 (FYN binding protein 1)

Gene

• Entrez ID: 2533
• Gene name: FYN binding protein 1
• Gene symbol: FYB1
• Synonyms: ADAP, FYB, PRO0823, SLAP-130, SLAP130, THC3
• Chromosome: 5
• Chromosome location: 5p13.1
• 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 is

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs745672593	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1060505056	AT>-	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT639519	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT639518	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT639517	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT639516	hsa-miR-33a-3p	HITS-CLIP	23824327
MIRT639515	hsa-miR-656-3p	HITS-CLIP	23824327
MIRT639514	hsa-miR-4307	HITS-CLIP	23824327
MIRT639513	hsa-miR-126-5p	HITS-CLIP	23824327
MIRT639512	hsa-miR-1-3p	HITS-CLIP	23824327
MIRT639511	hsa-miR-206	HITS-CLIP	23824327
MIRT639510	hsa-miR-613	HITS-CLIP	23824327
MIRT639509	hsa-miR-4795-3p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	TAS	10747096
GO:0005515	Function	Protein binding	IPI	10409671, 10570256, 10671560, 16461356, 17474147, 19798671, 20534575, 22074159, 25814554, 27335501
GO:0005634	Component	Nucleus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0006955	Process	Immune response	IEA
GO:0007229	Process	Integrin-mediated signaling pathway	IBA	21873635
GO:0008150	Process	Biological_process	ND
GO:0008289	Function	Lipid binding	IEA
GO:0015629	Component	Actin cytoskeleton	TAS	10747096
GO:0030054	Component	Cell junction	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0050852	Process	T cell receptor signaling pathway	IBA	21873635
GO:0050852	Process	T cell receptor signaling pathway	TAS	9207119
GO:0072659	Process	Protein localization to plasma membrane	IBA	21873635

Other IDs

• MIM: 602731
• HGNC: 4036
• e!Ensembl: ENSG00000082074

Protein

• UniProt ID: O15117
• Protein name: FYN-binding protein 1 (Adhesion and degranulation promoting adaptor protein) (ADAP) (FYB-120/130) (p120/p130) (FYN-T-binding protein) (SLAP-130) (SLP-76-associated phosphoprotein)
• Protein 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
• PDB: 1RI9, 2GTJ, 2GTO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07653	SH3_2	515 → 570	Variant SH3 domain	Domain
  PF14603	hSH3	695 → 783	Helically-extended SH3 domain	Domain

• Sequence:

  MAKYNTGGNPTEDVSVNSRPFRVTGPNSSSGIQARKNLFNNQGNASPPAGPSNVPKFGSP
  KPPVAVKPSSEEKPDKEPKPPFLKPTGAGQRFGTPASLTTRDPEAKVGFLKPVGPKPINL
  PKEDSKPTFPWPPGNKPSLHSVNQDHDLKPLGPKSGPTPPTSENEQKQAFPKLTGVKGKF
  MSASQDLEPKPLFPKPAFGQKPPLSTENSHEDESPMKNVSSSKGSPAPLGVRSKSGPLKP
  AREDSENKDHAGEISSLPFPGVVLKPAASRGGPGLSKNGEEKKEDRKIDAAKNTFQSKIN
  QEELASGTPPARFPKAPSKLTVGGPWGQSQEKEKGDKNSATPKQKPLPPLFTLGPPPPKP
  NRPPNVDLTKFHKTSSGNSTSKGQTSYSTTSLPPPPPSHPASQPPLPASHPSQPPVPSLP
  PRNIKPPFDLKSPVNEDNQDGVTHSDGAGNLDEEQDSEGETYEDIEASKEREKKREKEEK
  KRLELEKKEQKEKEKKEQEIKKKFKLTGPIQVIHLAKACCDVKGGKNELSFKQGEQIEII
  RITDNPEGKWLGRTARGSYGYIKTTAVEIDYDSLKLKKDSLGAPSRPIEDDQEVYDDVAE
  QDDISSHSQSGSGGIFPPPPDDDIYDGIEEEDADDGFPAPPKQLDMGDEVYDDVDTSDFP
  VSSAEMSQGTNVGKAKTEEKDLKKLKKQEKEEKDFRKKFKYDGEIRVLYSTKVTTSITSK
  KWGTRDLQVKPGESLEVIQTTDDTKVLCRNEEGKYGYVLRSYLADNDGEIYDDIADGCIY
  DND

• Sequence length: 783

Pathways

KEGG:

Rap1 signaling pathway
Yersinia infection

Reactome:

Generation of second messenger molecules
Signal regulatory protein family interactions

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Dermatitis	Dermatitis, Allergic Contact	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	16033404
Platelet-type bleeding disorder	Blood Platelet Disorders	rs1560045738, rs70961716, rs142186404, rs121918035, rs121918444, rs760074158, rs2146873791, rs387907345, rs387907346, rs387907348, rs387907350, rs397989794, rs587777211, rs587777529, rs724159972, rs572295823, rs550565800, rs869320714, rs869320716, rs757188030, rs1057518838, rs1057518837, rs148051111, rs1555122100, rs1554724694, rs755459581, rs752492512, rs1592371840, rs747559032, rs778608263, rs148910227, rs3211901, rs1594755688, rs1594760036, rs1594760140, rs1594768463, rs1594771224, rs1594771270, rs551607784, rs774996406, rs200434813	25876182
Thrombocytopenia	Thrombocytopenia 3	rs121908064, rs104894816, rs132630269, rs132630270, rs132630273, rs5030764, rs80338831, rs28928907, rs121909752, rs121918552, rs863223318, rs267607337, rs587778516, rs146249964, rs587776456, rs724159947, rs724159946, rs724159945, rs886037737, rs786205155, rs879255268, rs782290433, rs1057517845, rs886039451, rs1060505056, rs745672593, rs1064797085, rs1555144911, rs139265251, rs1557007312, rs1569061762, rs1569061768, rs1060502579, rs1569494025, rs1562515878, rs1569008655, rs774867424, rs1589393759, rs1589393799, rs1589393809, rs1591749480, rs1594758038, rs1594758046, rs747559032, rs1597638598, rs1597638681, rs1597638745, rs1597638753, rs1597639057, rs1601239459, rs121912499, rs1569061786, rs1601248210, rs536874549, rs1601248859, rs1360071443, rs1577005203, rs1583394629, rs1591750551, rs1569084106, rs1601515718, rs1589257502, rs1602180058	25876182

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital thrombocytopenia	Congenital autosomal recessive small-platelet thrombocytopenia
Mental depression	Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	27622933
Mood disorder	Mood Disorders		27622933