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GRB2-associated-binding protein 1 (GRB2-associated binder 1) (Growth factor receptor bound protein 2-associated protein 1)

 GAB1_HUMAN              Reviewed;         694 AA.
Q13480; A8K152; Q4W5G2; Q6P1W2;
13-APR-2004, integrated into UniProtKB/Swiss-Prot.
07-FEB-2006, sequence version 2.
17-JUN-2020, entry version 184.
RecName: Full=GRB2-associated-binding protein 1;
AltName: Full=GRB2-associated binder 1;
AltName: Full=Growth factor receptor bound protein 2-associated protein 1;
Name=GAB1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=8596638; DOI=10.1038/379560a0;
Holgado-Madruga M., Emlet D.R., Moscatello D.K., Godwin A.K., Wong A.J.;
"A Grb2-associated docking protein in EGF- and insulin-receptor
signalling.";
Nature 379:560-564(1996).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT LEU-311.
NIEHS SNPs program;
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15815621; DOI=10.1038/nature03466;
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
Wilson R.K.;
"Generation and annotation of the DNA sequences of human chromosomes 2 and
4.";
Nature 434:724-731(2005).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
Hunkapiller M.W., Myers E.W., Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Testis;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project:
the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
INTERACTION WITH LAT2.
PubMed=12486104; DOI=10.1084/jem.20021405;
Brdicka T., Imrich M., Angelisova P., Brdickova N., Horvath O., Spicka J.,
Hilgert I., Luskova P., Draber P., Novak P., Engels N., Wienands J.,
Simeoni L., Oesterreicher J., Aguado E., Malissen M., Schraven B.,
Horejsi V.;
"Non-T cell activation linker (NTAL): a transmembrane adaptor protein
involved in immunoreceptor signaling.";
J. Exp. Med. 196:1617-1626(2002).
[8]
INTERACTION WITH PTPRJ.
PubMed=12475979; DOI=10.1074/jbc.m210656200;
Palka H.L., Park M., Tonks N.K.;
"Hepatocyte growth factor receptor tyrosine kinase met is a substrate of
the receptor protein-tyrosine phosphatase DEP-1.";
J. Biol. Chem. 278:5728-5735(2003).
[9]
PHOSPHORYLATION BY HCK, AND INTERACTION WITH HCK; CRKL PTPN11 AND GRB2.
PubMed=15010462; DOI=10.1074/jbc.m305783200;
Podar K., Mostoslavsky G., Sattler M., Tai Y.T., Hayashi T., Catley L.P.,
Hideshima T., Mulligan R.C., Chauhan D., Anderson K.C.;
"Critical role for hematopoietic cell kinase (Hck)-mediated phosphorylation
of Gab1 and Gab2 docking proteins in interleukin 6-induced proliferation
and survival of multiple myeloma cells.";
J. Biol. Chem. 279:21658-21665(2004).
[10]
REVIEW ON ROLE IN FGFR1 SIGNALING; SUBUNIT AND PHOSPHORYLATION.
PubMed=15863030; DOI=10.1016/j.cytogfr.2005.01.001;
Eswarakumar V.P., Lax I., Schlessinger J.;
"Cellular signaling by fibroblast growth factor receptors.";
Cytokine Growth Factor Rev. 16:139-149(2005).
[11]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-659, PHOSPHORYLATION [LARGE
SCALE ANALYSIS] AT SER-547 (ISOFORM 2), AND IDENTIFICATION BY MASS
SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18669648; DOI=10.1073/pnas.0805139105;
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
Elledge S.J., Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
[12]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-627, AND IDENTIFICATION BY
MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=20068231; DOI=10.1126/scisignal.2000475;
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
"Quantitative phosphoproteomics reveals widespread full phosphorylation
site occupancy during mitosis.";
Sci. Signal. 3:RA3-RA3(2010).
[13]
ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, CLEAVAGE OF INITIATOR
METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
[LARGE SCALE ANALYSIS].
PubMed=22223895; DOI=10.1074/mcp.m111.015131;
Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T.,
Giglione C.;
"Comparative large-scale characterisation of plant vs. mammal proteins
reveals similar and idiosyncratic N-alpha acetylation features.";
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012).
[14]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-251; SER-253; SER-266;
SER-304; THR-387; SER-402; THR-638; SER-651; TYR-659 AND SER-683, AND
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma, and Erythroleukemia;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
[15]
VARIANTS [LARGE SCALE ANALYSIS] CYS-83 AND ASN-387.
PubMed=16959974; DOI=10.1126/science.1133427;
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
[16]
FUNCTION, INTERACTION WITH METTL13 AND SPRY2, INVOLVEMENT IN DFNB26,
VARIANT DFNB26 GLU-116, AND CHARACTERIZATION OF VARIANT DFNB26 GLU-116.
PubMed=29408807; DOI=10.1172/jci97350;
Yousaf R., Ahmed Z.M., Giese A.P., Morell R.J., Lagziel A., Dabdoub A.,
Wilcox E.R., Riazuddin S., Friedman T.B., Riazuddin S.;
"Modifier variant of METTL13 suppresses human GAB1-associated profound
deafness.";
J. Clin. Invest. 128:1509-1522(2018).
-!- FUNCTION: Adapter protein that plays a role in intracellular signaling
cascades triggered by activated receptor-type kinases. Plays a role in
FGFR1 signaling. Probably involved in signaling by the epidermal growth
factor receptor (EGFR) and the insulin receptor (INSR). Involved in the
MET/HGF-signaling pathway (PubMed:29408807).
{ECO:0000269|PubMed:29408807}.
-!- SUBUNIT: Interacts with GRB2 and with other SH2-containing proteins
(PubMed:15010462). Interacts with phosphorylated LAT2
(PubMed:12486104). Interacts with PTPRJ (PubMed:12475979). Identified
in a complex containing FRS2, GRB2, GAB1, PIK3R1 and SOS1. Interacts
(phosphorylated) with PTPN11 (PubMed:15010462). Interacts with HCK
(PubMed:15010462). Part of a tripartite complex containing GAB1,
METTL13 and SPRY2 (PubMed:29408807). Interacts with METTL13
(PubMed:29408807). {ECO:0000269|PubMed:12475979,
ECO:0000269|PubMed:12486104, ECO:0000269|PubMed:15010462,
ECO:0000269|PubMed:29408807}.
-!- INTERACTION:
Q13480; P51451: BLK; NbExp=3; IntAct=EBI-517684, EBI-2105445;
Q13480; P46108: CRK; NbExp=2; IntAct=EBI-517684, EBI-886;
Q13480; P46109: CRKL; NbExp=5; IntAct=EBI-517684, EBI-910;
Q13480; P00533: EGFR; NbExp=4; IntAct=EBI-517684, EBI-297353;
Q13480; P07332: FES; NbExp=2; IntAct=EBI-517684, EBI-1055635;
Q13480; P62993: GRB2; NbExp=7; IntAct=EBI-517684, EBI-401755;
Q13480; Q9UNN4: GTF2A1L; NbExp=3; IntAct=EBI-517684, EBI-10229384;
Q13480; O15357: INPPL1; NbExp=2; IntAct=EBI-517684, EBI-1384248;
Q13480; P06239: LCK; NbExp=10; IntAct=EBI-517684, EBI-1348;
Q13480; P07948: LYN; NbExp=7; IntAct=EBI-517684, EBI-79452;
Q13480; P16333: NCK1; NbExp=3; IntAct=EBI-517684, EBI-389883;
Q13480; O43639: NCK2; NbExp=5; IntAct=EBI-517684, EBI-713635;
Q13480; P27986: PIK3R1; NbExp=33; IntAct=EBI-517684, EBI-79464;
Q13480; O00459: PIK3R2; NbExp=23; IntAct=EBI-517684, EBI-346930;
Q13480; Q92569: PIK3R3; NbExp=36; IntAct=EBI-517684, EBI-79893;
Q13480; P19174: PLCG1; NbExp=36; IntAct=EBI-517684, EBI-79387;
Q13480; P16885: PLCG2; NbExp=15; IntAct=EBI-517684, EBI-617403;
Q13480; Q13882: PTK6; NbExp=6; IntAct=EBI-517684, EBI-1383632;
Q13480; Q06124: PTPN11; NbExp=39; IntAct=EBI-517684, EBI-297779;
Q13480; Q12913: PTPRJ; NbExp=2; IntAct=EBI-517684, EBI-2264500;
Q13480; P49023: PXN; NbExp=2; IntAct=EBI-517684, EBI-702209;
Q13480; P20936: RASA1; NbExp=25; IntAct=EBI-517684, EBI-1026476;
Q13480; O14796: SH2D1B; NbExp=8; IntAct=EBI-517684, EBI-3923013;
Q13480; Q9NP31: SH2D2A; NbExp=6; IntAct=EBI-517684, EBI-490630;
Q13480; P29353: SHC1; NbExp=9; IntAct=EBI-517684, EBI-78835;
Q13480; Q9H6Q3: SLA2; NbExp=4; IntAct=EBI-517684, EBI-1222854;
Q13480; O14543: SOCS3; NbExp=4; IntAct=EBI-517684, EBI-714146;
Q13480; O14544: SOCS6; NbExp=9; IntAct=EBI-517684, EBI-3929549;
Q13480; P12931: SRC; NbExp=12; IntAct=EBI-517684, EBI-621482;
Q13480; Q9ULZ2: STAP1; NbExp=3; IntAct=EBI-517684, EBI-6083058;
Q13480; P43405: SYK; NbExp=4; IntAct=EBI-517684, EBI-78302;
Q13480; P42680: TEC; NbExp=2; IntAct=EBI-517684, EBI-1383480;
Q13480; P15498: VAV1; NbExp=2; IntAct=EBI-517684, EBI-625518;
Q13480; P52735: VAV2; NbExp=2; IntAct=EBI-517684, EBI-297549;
Q13480; Q9UKW4: VAV3; NbExp=6; IntAct=EBI-517684, EBI-297568;
Q13480; P07947: YES1; NbExp=7; IntAct=EBI-517684, EBI-515331;
Q13480; P50904: Rasa1; Xeno; NbExp=2; IntAct=EBI-517684, EBI-5747849;
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q13480-1; Sequence=Displayed;
Name=2;
IsoId=Q13480-2; Sequence=VSP_017137;
-!- PTM: Phosphorylated in response to FGFR1 activation. Phosphorylated on
tyrosine residue(s) by the epidermal growth factor receptor (EGFR) and
the insulin receptor (INSR). Tyrosine phosphorylation of GAB1 mediates
interaction with several proteins that contain SH2 domains.
Phosphorylated on tyrosine residues by HCK upon IL6 signaling.
{ECO:0000269|PubMed:15010462}.
-!- DISEASE: Deafness, autosomal recessive, 26 (DFNB26) [MIM:605428]: A
form of non-syndromic sensorineural deafness characterized by
prelingual, severe to profound hearing loss. Sensorineural deafness
results from damage to the neural receptors of the inner ear, the nerve
pathways to the brain, or the area of the brain that receives sound
information. {ECO:0000269|PubMed:29408807}. Note=The disease is caused
by mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the GAB family. {ECO:0000305}.
-!- WEB RESOURCE: Name=NIEHS-SNPs;
URL="http://egp.gs.washington.edu/data/gab1/";
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EMBL; U43885; AAC50380.1; -; mRNA.
EMBL; DQ021880; AAY26398.1; -; Genomic_DNA.
EMBL; AK289767; BAF82456.1; -; mRNA.
EMBL; AC097658; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC104685; AAY40964.1; -; Genomic_DNA.
EMBL; CH471056; EAX05072.1; -; Genomic_DNA.
EMBL; BC064848; AAH64848.1; -; mRNA.
CCDS; CCDS3759.1; -. [Q13480-1]
CCDS; CCDS3760.1; -. [Q13480-2]
PIR; S68442; S68442.
RefSeq; NP_002030.2; NM_002039.3. [Q13480-1]
RefSeq; NP_997006.1; NM_207123.2. [Q13480-2]
PDB; 4QSY; X-ray; 2.10 A; B=621-633.
PDBsum; 4QSY; -.
SMR; Q13480; -.
BioGRID; 108824; 48.
CORUM; Q13480; -.
ELM; Q13480; -.
IntAct; Q13480; 113.
MINT; Q13480; -.
STRING; 9606.ENSP00000262995; -.
MoonDB; Q13480; Predicted.
iPTMnet; Q13480; -.
PhosphoSitePlus; Q13480; -.
BioMuta; GAB1; -.
DMDM; 90180201; -.
EPD; Q13480; -.
jPOST; Q13480; -.
MassIVE; Q13480; -.
MaxQB; Q13480; -.
PaxDb; Q13480; -.
PeptideAtlas; Q13480; -.
PRIDE; Q13480; -.
ProteomicsDB; 59477; -. [Q13480-1]
ProteomicsDB; 59478; -. [Q13480-2]
Antibodypedia; 3614; 331 antibodies.
DNASU; 2549; -.
Ensembl; ENST00000262994; ENSP00000262994; ENSG00000109458. [Q13480-1]
Ensembl; ENST00000262995; ENSP00000262995; ENSG00000109458. [Q13480-2]
GeneID; 2549; -.
KEGG; hsa:2549; -.
UCSC; uc003ijd.4; human. [Q13480-1]
CTD; 2549; -.
DisGeNET; 2549; -.
EuPathDB; HostDB:ENSG00000109458.8; -.
GeneCards; GAB1; -.
HGNC; HGNC:4066; GAB1.
HPA; ENSG00000109458; Tissue enhanced (brain).
MalaCards; GAB1; -.
MIM; 604439; gene.
MIM; 605428; phenotype.
neXtProt; NX_Q13480; -.
OpenTargets; ENSG00000109458; -.
PharmGKB; PA28477; -.
eggNOG; ENOG410IEIX; Eukaryota.
eggNOG; ENOG4111RDE; LUCA.
GeneTree; ENSGT00940000156801; -.
HOGENOM; CLU_028652_0_0_1; -.
InParanoid; Q13480; -.
KO; K09593; -.
OMA; EPMRTHA; -.
PhylomeDB; Q13480; -.
TreeFam; TF329487; -.
Reactome; R-HSA-109704; PI3K Cascade.
Reactome; R-HSA-1236382; Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants.
Reactome; R-HSA-1257604; PIP3 activates AKT signaling.
Reactome; R-HSA-180292; GAB1 signalosome.
Reactome; R-HSA-1963642; PI3K events in ERBB2 signaling.
Reactome; R-HSA-2219530; Constitutive Signaling by Aberrant PI3K in Cancer.
Reactome; R-HSA-5637810; Constitutive Signaling by EGFRvIII.
Reactome; R-HSA-5654689; PI-3K cascade:FGFR1.
Reactome; R-HSA-5654695; PI-3K cascade:FGFR2.
Reactome; R-HSA-5654710; PI-3K cascade:FGFR3.
Reactome; R-HSA-5654720; PI-3K cascade:FGFR4.
Reactome; R-HSA-5655253; Signaling by FGFR2 in disease.
Reactome; R-HSA-5655291; Signaling by FGFR4 in disease.
Reactome; R-HSA-5655302; Signaling by FGFR1 in disease.
Reactome; R-HSA-6811558; PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling.
Reactome; R-HSA-8851907; MET activates PI3K/AKT signaling.
Reactome; R-HSA-8853334; Signaling by FGFR3 fusions in cancer.
Reactome; R-HSA-8853338; Signaling by FGFR3 point mutants in cancer.
Reactome; R-HSA-8853659; RET signaling.
Reactome; R-HSA-8865999; MET activates PTPN11.
Reactome; R-HSA-8875555; MET activates RAP1 and RAC1.
Reactome; R-HSA-8875656; MET receptor recycling.
Reactome; R-HSA-9027276; Erythropoietin activates Phosphoinositide-3-kinase (PI3K).
Reactome; R-HSA-9028335; Activated NTRK2 signals through PI3K.
Reactome; R-HSA-9664565; Signaling by ERBB2 KD Mutants.
SignaLink; Q13480; -.
SIGNOR; Q13480; -.
BioGRID-ORCS; 2549; 35 hits in 786 CRISPR screens.
ChiTaRS; GAB1; human.
GeneWiki; GAB1; -.
GenomeRNAi; 2549; -.
Pharos; Q13480; Tbio.
PRO; PR:Q13480; -.
Proteomes; UP000005640; Chromosome 4.
RNAct; Q13480; protein.
Bgee; ENSG00000109458; Expressed in corpus callosum and 217 other tissues.
ExpressionAtlas; Q13480; baseline and differential.
Genevisible; Q13480; HS.
GO; GO:0005911; C:cell-cell junction; IMP:ARUK-UCL.
GO; GO:0005829; C:cytosol; TAS:Reactome.
GO; GO:0005070; F:SH3/SH2 adaptor activity; TAS:ProtInc.
GO; GO:0031532; P:actin cytoskeleton reorganization; IMP:BHF-UCL.
GO; GO:0001525; P:angiogenesis; IMP:BHF-UCL.
GO; GO:0007411; P:axon guidance; TAS:Reactome.
GO; GO:0090668; P:endothelial cell chemotaxis to vascular endothelial growth factor; IMP:BHF-UCL.
GO; GO:0007173; P:epidermal growth factor receptor signaling pathway; TAS:Reactome.
GO; GO:0038128; P:ERBB2 signaling pathway; TAS:Reactome.
GO; GO:0008286; P:insulin receptor signaling pathway; TAS:ProtInc.
GO; GO:0045766; P:positive regulation of angiogenesis; IMP:BHF-UCL.
GO; GO:0038089; P:positive regulation of cell migration by vascular endothelial growth factor signaling pathway; ISS:BHF-UCL.
GO; GO:0014068; P:positive regulation of phosphatidylinositol 3-kinase signaling; TAS:Reactome.
GO; GO:0051897; P:positive regulation of protein kinase B signaling; TAS:Reactome.
GO; GO:0035728; P:response to hepatocyte growth factor; IEA:Ensembl.
GO; GO:0038084; P:vascular endothelial growth factor signaling pathway; IMP:BHF-UCL.
Gene3D; 2.30.29.30; -; 1.
InterPro; IPR011993; PH-like_dom_sf.
InterPro; IPR001849; PH_domain.
Pfam; PF00169; PH; 1.
SMART; SM00233; PH; 1.
PROSITE; PS50003; PH_DOMAIN; 1.
1: Evidence at protein level;
3D-structure; Acetylation; Alternative splicing; Deafness;
Disease mutation; Non-syndromic deafness; Phosphoprotein; Polymorphism;
Reference proteome.
INIT_MET 1
/note="Removed"
/evidence="ECO:0000244|PubMed:22223895"
CHAIN 2..694
/note="GRB2-associated-binding protein 1"
/id="PRO_0000050282"
DOMAIN 5..116
/note="PH"
/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
COMPBIAS 449..540
/note="Pro-rich"
MOD_RES 2
/note="N-acetylserine"
/evidence="ECO:0000244|PubMed:22223895"
MOD_RES 251
/note="Phosphoserine"
/evidence="ECO:0000244|PubMed:23186163"
MOD_RES 253
/note="Phosphoserine"
/evidence="ECO:0000244|PubMed:23186163"
MOD_RES 266
/note="Phosphoserine"
/evidence="ECO:0000244|PubMed:23186163"
MOD_RES 304
/note="Phosphoserine"
/evidence="ECO:0000244|PubMed:23186163"
MOD_RES 387
/note="Phosphothreonine"
/evidence="ECO:0000244|PubMed:23186163"
MOD_RES 402
/note="Phosphoserine"
/evidence="ECO:0000244|PubMed:23186163"
MOD_RES 454
/note="Phosphoserine"
/evidence="ECO:0000250|UniProtKB:Q9QYY0"
MOD_RES 627
/note="Phosphotyrosine"
/evidence="ECO:0000244|PubMed:20068231"
MOD_RES 638
/note="Phosphothreonine"
/evidence="ECO:0000244|PubMed:23186163"
MOD_RES 651
/note="Phosphoserine"
/evidence="ECO:0000244|PubMed:23186163"
MOD_RES 659
/note="Phosphotyrosine"
/evidence="ECO:0000244|PubMed:18669648,
ECO:0000244|PubMed:23186163"
MOD_RES 683
/note="Phosphoserine"
/evidence="ECO:0000244|PubMed:23186163"
VAR_SEQ 528
/note="K -> KGQSPKILRLKPHGLERTDSQTIGDFATRRK (in isoform 2)"
/evidence="ECO:0000303|PubMed:15489334"
/id="VSP_017137"
VARIANT 83
/note="Y -> C (in a breast cancer sample; somatic
mutation)"
/evidence="ECO:0000269|PubMed:16959974"
/id="VAR_036132"
VARIANT 116
/note="G -> E (in DFNB26; results in dysregulation of MET-
signaling pathway genes expression; does not affect
interaction with METTL13; dbSNP:rs1553950635)"
/evidence="ECO:0000269|PubMed:29408807"
/id="VAR_080809"
VARIANT 311
/note="P -> L (in dbSNP:rs28925904)"
/evidence="ECO:0000269|Ref.2"
/id="VAR_025261"
VARIANT 377
/note="T -> I (in dbSNP:rs2229879)"
/id="VAR_053096"
VARIANT 387
/note="T -> N (in a breast cancer sample; somatic
mutation)"
/evidence="ECO:0000269|PubMed:16959974"
/id="VAR_036133"
CONFLICT 204
/note="A -> G (in Ref. 1; AAC50380)"
/evidence="ECO:0000305"
CONFLICT 213
/note="C -> S (in Ref. 1; AAC50380)"
/evidence="ECO:0000305"
MOD_RES Q13480-2:547
/note="Phosphoserine"
/evidence="ECO:0000244|PubMed:18669648"
SEQUENCE 694 AA; 76616 MW; E0FAC78772B6677B CRC64;
MSGGEVVCSG WLRKSPPEKK LKRYAWKRRW FVLRSGRLTG DPDVLEYYKN DHAKKPIRII
DLNLCQQVDA GLTFNKKEFE NSYIFDINTI DRIFYLVADS EEEMNKWVRC ICDICGFNPT
EEDPVKPPGS SLQAPADLPL AINTAPPSTQ ADSSSATLPP PYQLINVPPH LETLGIQEDP
QDYLLLINCQ SKKPEPTRTH ADSAKSTSSE TDCNDNVPSH KNPASSQSKH GMNGFFQQQM
IYDSPPSRAP SASVDSSLYN LPRSYSHDVL PKVSPSSTEA DGELYVFNTP SGTSSVETQM
RHVSISYDIP PTPGNTYQIP RTFPEGTLGQ TSKLDTIPDI PPPRPPKPHP AHDRSPVETC
SIPRTASDTD SSYCIPTAGM SPSRSNTIST VDLNKLRKDA SSQDCYDIPR AFPSDRSSSL
EGFHNHFKVK NVLTVGSVSS EELDENYVPM NPNSPPRQHS SSFTEPIQEA NYVPMTPGTF
DFSSFGMQVP PPAHMGFRSS PKTPPRRPVP VADCEPPPVD RNLKPDRKVK PAPLEIKPLP
EWEELQAPVR SPITRSFARD SSRFPMSPRP DSVHSTTSSS DSHDSEENYV PMNPNLSSED
PNLFGSNSLD GGSSPMIKPK GDKQVEYLDL DLDSGKSTPP RKQKSSGSGS SVADERVDYV
VVDQQKTLAL KSTREAWTDG RQSTESETPA KSVK


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Related Genes :
[GAB1] GRB2-associated-binding protein 1 (GRB2-associated binder 1) (Growth factor receptor bound protein 2-associated protein 1)
[GRB2 ASH] Growth factor receptor-bound protein 2 (Adapter protein GRB2) (Protein Ash) (SH2/SH3 adapter GRB2)
[Grb2] Growth factor receptor-bound protein 2 (Adapter protein GRB2) (SH2/SH3 adapter GRB2)
[Grb2 Ash] Growth factor receptor-bound protein 2 (Adapter protein GRB2) (Protein Ash) (SH2/SH3 adapter GRB2)
[GRB2] Growth factor receptor-bound protein 2 (Adapter protein GRB2) (SH2/SH3 adapter GRB2)
[GAREM1 C18orf11 FAM59A GAREM] GRB2-associated and regulator of MAPK protein 1 (GRB2-associated and regulator of MAPK1)
[SGIP1] SH3-containing GRB2-like protein 3-interacting protein 1 (Endophilin-3-interacting protein)
[Sgip1] SH3-containing GRB2-like protein 3-interacting protein 1 (Endophilin-3-interacting protein)
[Sgip1] SH3-containing GRB2-like protein 3-interacting protein 1 (Endophilin-3-interacting protein)
[SH3GL2 CNSA2 SH3D2A] Endophilin-A1 (EEN-B1) (Endophilin-1) (SH3 domain protein 2A) (SH3 domain-containing GRB2-like protein 2)
[MED28 EG1 FKSG20] Mediator of RNA polymerase II transcription subunit 28 (Endothelial-derived protein 1) (Mediator complex subunit 28) (Merlin and Grb2-interacting cytoskeletal protein) (Magicin) (Tumor angiogenesis marker EG-1)
[Sh3gl2 Sh3d2a Sh3p4] Endophilin-A1 (Endophilin-1) (SH3 domain protein 2A) (SH3 domain-containing GRB2-like protein 2) (SH3p4)
[Themis] Protein THEMIS (Grb2-associating protein) (Gasp) (Protein thylex) (Thymocyte-expressed molecule involved in selection)
[GRAP] GRB2-related adapter protein
[Igf1r] Insulin-like growth factor 1 receptor (EC 2.7.10.1) (Insulin-like growth factor I receptor) (IGF-I receptor) (CD antigen CD221) [Cleaved into: Insulin-like growth factor 1 receptor alpha chain; Insulin-like growth factor 1 receptor beta chain]
[PDGFRB PDGFR PDGFR1] Platelet-derived growth factor receptor beta (PDGF-R-beta) (PDGFR-beta) (EC 2.7.10.1) (Beta platelet-derived growth factor receptor) (Beta-type platelet-derived growth factor receptor) (CD140 antigen-like family member B) (Platelet-derived growth factor receptor 1) (PDGFR-1) (CD antigen CD140b)
[Pdgfrb Pdgfr Pdgfr1] Platelet-derived growth factor receptor beta (PDGF-R-beta) (PDGFR-beta) (EC 2.7.10.1) (Beta platelet-derived growth factor receptor) (Beta-type platelet-derived growth factor receptor) (CD140 antigen-like family member B) (Platelet-derived growth factor receptor 1) (PDGFR-1) (CD antigen CD140b)
[Pdgfrb Pdgfr Pdgfr1] Platelet-derived growth factor receptor beta (PDGF-R-beta) (PDGFR-beta) (EC 2.7.10.1) (Beta platelet-derived growth factor receptor) (Beta-type platelet-derived growth factor receptor) (CD140 antigen-like family member B) (Platelet-derived growth factor receptor 1) (PDGFR-1) (CD antigen CD140b)
[PDGFRA PDGFR2 RHEPDGFRA] Platelet-derived growth factor receptor alpha (PDGF-R-alpha) (PDGFR-alpha) (EC 2.7.10.1) (Alpha platelet-derived growth factor receptor) (Alpha-type platelet-derived growth factor receptor) (CD140 antigen-like family member A) (CD140a antigen) (Platelet-derived growth factor alpha receptor) (Platelet-derived growth factor receptor 2) (PDGFR-2) (CD antigen CD140a)
[PDGFRB PDGFR PDGFR1] Platelet-derived growth factor receptor beta (PDGF-R-beta) (PDGFR-beta) (EC 2.7.10.1) (Beta platelet-derived growth factor receptor) (Beta-type platelet-derived growth factor receptor) (CD140 antigen-like family member B) (Platelet-derived growth factor receptor 1) (PDGFR-1) (CD antigen CD140b)
[Fgfr4 Fgfr-4 Mpk-11] Fibroblast growth factor receptor 4 (FGFR-4) (EC 2.7.10.1) (Protein-tyrosine kinase receptor MPK-11) (CD antigen CD334)
[FLT1 FLT FRT VEGFR1] Vascular endothelial growth factor receptor 1 (VEGFR-1) (EC 2.7.10.1) (Fms-like tyrosine kinase 1) (FLT-1) (Tyrosine-protein kinase FRT) (Tyrosine-protein kinase receptor FLT) (FLT) (Vascular permeability factor receptor)
[NRG1 GGF HGL HRGA NDF SMDF] Pro-neuregulin-1, membrane-bound isoform (Pro-NRG1) [Cleaved into: Neuregulin-1 (Acetylcholine receptor-inducing activity) (ARIA) (Breast cancer cell differentiation factor p45) (Glial growth factor) (Heregulin) (HRG) (Neu differentiation factor) (Sensory and motor neuron-derived factor)]
[EGFR ERBB ERBB1 HER1] Epidermal growth factor receptor (EC 2.7.10.1) (Proto-oncogene c-ErbB-1) (Receptor tyrosine-protein kinase erbB-1)
[SGIP1] SH3-containing GRB2-like protein 3-interacting protein 1 (Endophilin-3-interacting protein)
[Nrg1 Ndf] Pro-neuregulin-1, membrane-bound isoform (Pro-NRG1) [Cleaved into: Neuregulin-1 (Acetylcholine receptor-inducing activity) (ARIA) (Glial growth factor) (Heregulin) (HRG) (Neu differentiation factor) (Sensory and motor neuron-derived factor)]
[FGFR1 BFGFR CEK FGFBR FLG FLT2 HBGFR] Fibroblast growth factor receptor 1 (FGFR-1) (EC 2.7.10.1) (Basic fibroblast growth factor receptor 1) (BFGFR) (bFGF-R-1) (Fms-like tyrosine kinase 2) (FLT-2) (N-sam) (Proto-oncogene c-Fgr) (CD antigen CD331)
[Flt1 Emrk2 Flt Vegfr1] Vascular endothelial growth factor receptor 1 (VEGFR-1) (EC 2.7.10.1) (Embryonic receptor kinase 2) (Fms-like tyrosine kinase 1) (FLT-1) (Tyrosine-protein kinase receptor FLT)
[Garem1 Fam59a Garem Gm944 Kiaa4238] GRB2-associated and regulator of MAPK protein (GRB2-associated and regulator of MAPK1)
[NTRK1 MTC TRK TRKA] High affinity nerve growth factor receptor (EC 2.7.10.1) (Neurotrophic tyrosine kinase receptor type 1) (TRK1-transforming tyrosine kinase protein) (Tropomyosin-related kinase A) (Tyrosine kinase receptor) (Tyrosine kinase receptor A) (Trk-A) (gp140trk) (p140-TrkA)

Bibliography :