GAB3_HUMAN
ID GAB3_HUMAN Reviewed; 586 AA.
AC Q8WWW8; A6NHF8; E9PB44;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2002, sequence version 1.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=GRB2-associated-binding protein 3;
DE AltName: Full=GRB2-associated binder 3;
DE AltName: Full=Growth factor receptor bound protein 2-associated protein 3;
GN Name=GAB3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Dendritic cell, and Eosinophil;
RX PubMed=11739737; DOI=10.1128/mcb.22.1.231-244.2002;
RA Wolf I., Jenkins B.J., Liu Y., Seiffert M., Custodio J.M., Young P.,
RA Rohrschneider L.R.;
RT "Gab3, a new DOS/Gab family member, facilitates macrophage
RT differentiation.";
RL Mol. Cell. Biol. 22:231-244(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
RC TISSUE=Thalamus, and Trachea;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-344 AND SER-482, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- SUBUNIT: Interacts with PIK3R/p85, SHP2 and GRAP2/MONA (By similarity).
CC May interact with Grb2. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8WWW8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8WWW8-2; Sequence=VSP_045033;
CC Name=3;
CC IsoId=Q8WWW8-3; Sequence=VSP_045033, VSP_055259;
CC -!- PTM: Phosphorylated on tyrosine residue(s) after macrophage colony-
CC stimulating factor (M-CSF) receptor stimulation. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the GAB family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AK307927; Type=Erroneous termination; Note=Extended C-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY057989; AAL25825.1; -; mRNA.
DR EMBL; AK126283; BAG54302.1; -; mRNA.
DR EMBL; AK307927; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC107450; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC109993; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471172; EAW72665.1; -; Genomic_DNA.
DR EMBL; CH471172; EAW72667.1; -; Genomic_DNA.
DR CCDS; CCDS14760.1; -. [Q8WWW8-1]
DR CCDS; CCDS48198.1; -. [Q8WWW8-2]
DR CCDS; CCDS65357.1; -. [Q8WWW8-3]
DR RefSeq; NP_001075042.1; NM_001081573.2. [Q8WWW8-2]
DR RefSeq; NP_001269212.1; NM_001282283.1. [Q8WWW8-3]
DR RefSeq; NP_542179.1; NM_080612.3. [Q8WWW8-1]
DR RefSeq; XP_005274705.1; XM_005274648.1. [Q8WWW8-2]
DR RefSeq; XP_006724867.1; XM_006724804.1. [Q8WWW8-2]
DR AlphaFoldDB; Q8WWW8; -.
DR SMR; Q8WWW8; -.
DR BioGRID; 126581; 10.
DR ELM; Q8WWW8; -.
DR IntAct; Q8WWW8; 1.
DR MINT; Q8WWW8; -.
DR STRING; 9606.ENSP00000399588; -.
DR iPTMnet; Q8WWW8; -.
DR PhosphoSitePlus; Q8WWW8; -.
DR BioMuta; GAB3; -.
DR DMDM; 74716251; -.
DR MassIVE; Q8WWW8; -.
DR MaxQB; Q8WWW8; -.
DR PaxDb; Q8WWW8; -.
DR PeptideAtlas; Q8WWW8; -.
DR PRIDE; Q8WWW8; -.
DR ProteomicsDB; 1194; -.
DR ProteomicsDB; 19139; -.
DR ProteomicsDB; 74948; -. [Q8WWW8-1]
DR Antibodypedia; 535; 130 antibodies from 25 providers.
DR DNASU; 139716; -.
DR Ensembl; ENST00000369568.8; ENSP00000358581.4; ENSG00000160219.12. [Q8WWW8-3]
DR Ensembl; ENST00000369575.7; ENSP00000358588.3; ENSG00000160219.12. [Q8WWW8-1]
DR Ensembl; ENST00000424127.3; ENSP00000399588.2; ENSG00000160219.12. [Q8WWW8-2]
DR GeneID; 139716; -.
DR KEGG; hsa:139716; -.
DR MANE-Select; ENST00000424127.3; ENSP00000399588.2; NM_001081573.3; NP_001075042.1. [Q8WWW8-2]
DR UCSC; uc004fmj.3; human. [Q8WWW8-1]
DR CTD; 139716; -.
DR DisGeNET; 139716; -.
DR GeneCards; GAB3; -.
DR HGNC; HGNC:17515; GAB3.
DR HPA; ENSG00000160219; Tissue enhanced (lymphoid).
DR MIM; 300482; gene.
DR neXtProt; NX_Q8WWW8; -.
DR OpenTargets; ENSG00000160219; -.
DR PharmGKB; PA28479; -.
DR VEuPathDB; HostDB:ENSG00000160219; -.
DR eggNOG; ENOG502QU11; Eukaryota.
DR GeneTree; ENSGT00940000159803; -.
DR HOGENOM; CLU_028652_1_0_1; -.
DR InParanoid; Q8WWW8; -.
DR OMA; SQCETGS; -.
DR OrthoDB; 1153633at2759; -.
DR PhylomeDB; Q8WWW8; -.
DR TreeFam; TF329487; -.
DR PathwayCommons; Q8WWW8; -.
DR SignaLink; Q8WWW8; -.
DR BioGRID-ORCS; 139716; 15 hits in 697 CRISPR screens.
DR ChiTaRS; GAB3; human.
DR GenomeRNAi; 139716; -.
DR Pharos; Q8WWW8; Tbio.
DR PRO; PR:Q8WWW8; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q8WWW8; protein.
DR Bgee; ENSG00000160219; Expressed in left ventricle myocardium and 120 other tissues.
DR ExpressionAtlas; Q8WWW8; baseline and differential.
DR Genevisible; Q8WWW8; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0035591; F:signaling adaptor activity; IBA:GO_Central.
DR GO; GO:0030225; P:macrophage differentiation; IEA:Ensembl.
DR GO; GO:0007165; P:signal transduction; IBA:GO_Central.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR046355; Gab1-4-like.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR PANTHER; PTHR45960; PTHR45960; 1.
DR Pfam; PF00169; PH; 1.
DR SMART; SM00233; PH; 1.
DR PROSITE; PS50003; PH_DOMAIN; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Phosphoprotein; Reference proteome.
FT CHAIN 1..586
FT /note="GRB2-associated-binding protein 3"
FT /id="PRO_0000318939"
FT DOMAIN 5..117
FT /note="PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT REGION 149..171
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 281..335
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 401..453
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 314..330
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 344
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 482
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 125
FT /note="A -> AA (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045033"
FT VAR_SEQ 510..548
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055259"
FT VARIANT 237
FT /note="P -> S (in dbSNP:rs17281349)"
FT /id="VAR_038917"
SQ SEQUENCE 586 AA; 65589 MW; 9DE0223C34AD8FFE CRC64;
MSAGDAVCTG WLVKSPPERK LQRYAWRKRW FVLRRGRMSG NPDVLEYYRN KHSSKPIRVI
DLSECAVWKH VGPSFVRKEF QNNFVFIVKT TSRTFYLVAK TEQEMQVWVH SISQVCNLGH
LEDGADSMES LSYTPSSLQP SSASSLLTAH AASSSLPRDD PNTNAVATEE TRSESELLFL
PDYLVLSNCE TGRLHHTSLP TRCDSWSNSD RSLEQASFDD VFVDCLQPLP SSHLVHPSCH
GSGAQEVPSS RPQAALIWSR EINGPPRDHL SSSPLLESSL SSTIQVDKNQ GSLPCGAKEL
DIMSNTPPPR PPKPSHLSER RQEEWSTHSG SKKPECTLVP RRISLSGLDN MRTWKADVEG
QSLRHRDKRL SLNLPCRFSP MYPTASASIE DSYVPMSPQA GASGLGPHCS PDDYIPMNSG
SISSPLPELP ANLEPPPVNR DLKPQRKSRP PPLDLRNLSI IREHASLTRT RTVPCSRTSF
LSPERNGINS ARFFANPVSR EDEESYIEME EHRTASSLSS GALTWTKKFS LDYLALDFNS
ASPAPMQQKL LLSEEQRVDY VQVDEQKTQA LQSTKQEWTD ERQSKV
