UniProtKB - Q13480 (GAB1_HUMAN)
GRB2-associated-binding protein 1
GAB1
Functioni
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).
1 PublicationGO - Biological processi
- actin cytoskeleton reorganization Source: BHF-UCL
- angiogenesis Source: BHF-UCL
- endothelial cell chemotaxis to vascular endothelial growth factor Source: BHF-UCL
- epidermal growth factor receptor signaling pathway Source: ProtInc
- insulin receptor signaling pathway Source: ProtInc
- positive regulation of angiogenesis Source: BHF-UCL
- positive regulation of cell migration by vascular endothelial growth factor signaling pathway Source: BHF-UCL
- response to hepatocyte growth factor Source: Ensembl
- vascular endothelial growth factor signaling pathway Source: BHF-UCL
Enzyme and pathway databases
PathwayCommonsi | Q13480 |
Reactomei | R-HSA-109704, PI3K Cascade R-HSA-1236382, Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants R-HSA-1257604, PIP3 activates AKT signaling R-HSA-180292, GAB1 signalosome R-HSA-1963642, PI3K events in ERBB2 signaling R-HSA-2219530, Constitutive Signaling by Aberrant PI3K in Cancer R-HSA-5637810, Constitutive Signaling by EGFRvIII R-HSA-5654689, PI-3K cascade:FGFR1 R-HSA-5654695, PI-3K cascade:FGFR2 R-HSA-5654710, PI-3K cascade:FGFR3 R-HSA-5654720, PI-3K cascade:FGFR4 R-HSA-5655253, Signaling by FGFR2 in disease R-HSA-5655291, Signaling by FGFR4 in disease R-HSA-5655302, Signaling by FGFR1 in disease R-HSA-6811558, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling R-HSA-8851907, MET activates PI3K/AKT signaling R-HSA-8853334, Signaling by FGFR3 fusions in cancer R-HSA-8853338, Signaling by FGFR3 point mutants in cancer R-HSA-8853659, RET signaling R-HSA-8865999, MET activates PTPN11 R-HSA-8875555, MET activates RAP1 and RAC1 R-HSA-8875656, MET receptor recycling R-HSA-9027276, Erythropoietin activates Phosphoinositide-3-kinase (PI3K) R-HSA-9028335, Activated NTRK2 signals through PI3K R-HSA-9664565, Signaling by ERBB2 KD Mutants R-HSA-9665348, Signaling by ERBB2 ECD mutants |
SignaLinki | Q13480 |
SIGNORi | Q13480 |
Protein family/group databases
MoonDBi | Q13480, Predicted |
Names & Taxonomyi
Protein namesi | Recommended name: GRB2-associated-binding protein 1Alternative name(s): GRB2-associated binder 1 Growth factor receptor bound protein 2-associated protein 1 |
Gene namesi | Name:GAB1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4066, GAB1 |
MIMi | 604439, gene |
neXtProti | NX_Q13480 |
VEuPathDBi | HostDB:ENSG00000109458 |
Subcellular locationi
Cytosol
- cytosol Source: Reactome
Other locations
- cell-cell junction Source: ARUK-UCL
Pathology & Biotechi
Involvement in diseasei
Deafness, autosomal recessive, 26 (DFNB26)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080809 | 116 | G → E in DFNB26; results in dysregulation of MET-signaling pathway genes expression; does not affect interaction with METTL13. 1 PublicationCorresponds to variant dbSNP:rs1553950635EnsemblClinVar. | 1 |
Keywords - Diseasei
Deafness, Disease variant, Non-syndromic deafnessOrganism-specific databases
DisGeNETi | 2549 |
MalaCardsi | GAB1 |
MIMi | 605428, phenotype |
OpenTargetsi | ENSG00000109458 |
PharmGKBi | PA28477 |
Miscellaneous databases
Pharosi | Q13480, Tchem |
Chemistry databases
ChEMBLi | CHEMBL4523286 |
Genetic variation databases
BioMutai | GAB1 |
DMDMi | 90180201 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000050282 | 2 – 694 | GRB2-associated-binding protein 1Add BLAST | 693 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Modified residuei | 2 | N-acetylserineCombined sources | 1 | ||
Modified residuei | 251 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 253 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 266 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 304 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 387 | PhosphothreonineCombined sources | 1 | ||
Modified residuei | 402 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 454 | PhosphoserineBy similarity | 1 | ||
Modified residuei | 627 | PhosphotyrosineCombined sources | 1 | ||
Modified residuei | 638 | PhosphothreonineCombined sources | 1 | ||
Modified residuei | 651 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 659 | PhosphotyrosineCombined sources | 1 | ||
Modified residuei | 683 | PhosphoserineCombined sources | 1 | ||
Isoform 2 (identifier: Q13480-2) | |||||
Modified residuei | 547 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
CPTACi | CPTAC-1557 |
EPDi | Q13480 |
jPOSTi | Q13480 |
MassIVEi | Q13480 |
MaxQBi | Q13480 |
PaxDbi | Q13480 |
PeptideAtlasi | Q13480 |
PRIDEi | Q13480 |
ProteomicsDBi | 59477 [Q13480-1] 59478 [Q13480-2] |
PTM databases
GlyGeni | Q13480, 2 sites, 1 O-linked glycan (2 sites) |
iPTMneti | Q13480 |
PhosphoSitePlusi | Q13480 |
Expressioni
Gene expression databases
Bgeei | ENSG00000109458, Expressed in corpus callosum and 231 other tissues |
ExpressionAtlasi | Q13480, baseline and differential |
Genevisiblei | Q13480, HS |
Organism-specific databases
HPAi | ENSG00000109458, Tissue enhanced (brain) |
Interactioni
Subunit structurei
Identified in a complex containing FRS2, GRB2, GAB1, PIK3R1 and SOS1 (By similarity).
Forms a tripartite complex containing GAB1, METTL13 and SPRY2 (PubMed:29408807). Within the complex interacts with METTL13 (PubMed:29408807).
Interacts with GRB2 and with other SH2-containing proteins (PubMed:15010462).
Interacts with phosphorylated LAT2 (PubMed:12486104).
Interacts with PTPRJ (PubMed:12475979).
Interacts (phosphorylated) with PTPN11 (PubMed:15010462).
Interacts with HCK (PubMed:15010462).
By similarity4 PublicationsBinary interactionsi
Q13480
Protein-protein interaction databases
BioGRIDi | 108824, 126 interactors |
CORUMi | Q13480 |
ELMi | Q13480 |
IntActi | Q13480, 117 interactors |
MINTi | Q13480 |
STRINGi | 9606.ENSP00000262995 |
Miscellaneous databases
RNActi | Q13480, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 5 – 116 | PHPROSITE-ProRule annotationAdd BLAST | 112 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 122 – 164 | DisorderedSequence analysisAdd BLAST | 43 | |
Regioni | 194 – 231 | DisorderedSequence analysisAdd BLAST | 38 | |
Regioni | 323 – 386 | DisorderedSequence analysisAdd BLAST | 64 | |
Regioni | 493 – 656 | DisorderedSequence analysisAdd BLAST | 164 | |
Regioni | 671 – 694 | DisorderedSequence analysisAdd BLAST | 24 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 143 – 161 | Polar residuesSequence analysisAdd BLAST | 19 | |
Compositional biasi | 201 – 231 | Polar residuesSequence analysisAdd BLAST | 31 | |
Compositional biasi | 360 – 386 | Polar residuesSequence analysisAdd BLAST | 27 | |
Compositional biasi | 519 – 534 | Basic and acidic residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 568 – 613 | Polar residuesSequence analysisAdd BLAST | 46 | |
Compositional biasi | 622 – 638 | Basic and acidic residuesSequence analysisAdd BLAST | 17 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG3751, Eukaryota |
GeneTreei | ENSGT00940000156801 |
HOGENOMi | CLU_028652_0_0_1 |
InParanoidi | Q13480 |
OMAi | EPMRTHA |
PhylomeDBi | Q13480 |
TreeFami | TF329487 |
Family and domain databases
Gene3Di | 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR046355, Gab1-4-like IPR011993, PH-like_dom_sf IPR001849, PH_domain |
PANTHERi | PTHR45960, PTHR45960, 1 hit |
Pfami | View protein in Pfam PF00169, PH, 1 hit |
SMARTi | View protein in SMART SM00233, PH, 1 hit |
PROSITEi | View protein in PROSITE PS50003, PH_DOMAIN, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSGGEVVCSG WLRKSPPEKK LKRYAWKRRW FVLRSGRLTG DPDVLEYYKN
60 70 80 90 100
DHAKKPIRII DLNLCQQVDA GLTFNKKEFE NSYIFDINTI DRIFYLVADS
110 120 130 140 150
EEEMNKWVRC ICDICGFNPT EEDPVKPPGS SLQAPADLPL AINTAPPSTQ
160 170 180 190 200
ADSSSATLPP PYQLINVPPH LETLGIQEDP QDYLLLINCQ SKKPEPTRTH
210 220 230 240 250
ADSAKSTSSE TDCNDNVPSH KNPASSQSKH GMNGFFQQQM IYDSPPSRAP
260 270 280 290 300
SASVDSSLYN LPRSYSHDVL PKVSPSSTEA DGELYVFNTP SGTSSVETQM
310 320 330 340 350
RHVSISYDIP PTPGNTYQIP RTFPEGTLGQ TSKLDTIPDI PPPRPPKPHP
360 370 380 390 400
AHDRSPVETC SIPRTASDTD SSYCIPTAGM SPSRSNTIST VDLNKLRKDA
410 420 430 440 450
SSQDCYDIPR AFPSDRSSSL EGFHNHFKVK NVLTVGSVSS EELDENYVPM
460 470 480 490 500
NPNSPPRQHS SSFTEPIQEA NYVPMTPGTF DFSSFGMQVP PPAHMGFRSS
510 520 530 540 550
PKTPPRRPVP VADCEPPPVD RNLKPDRKVK PAPLEIKPLP EWEELQAPVR
560 570 580 590 600
SPITRSFARD SSRFPMSPRP DSVHSTTSSS DSHDSEENYV PMNPNLSSED
610 620 630 640 650
PNLFGSNSLD GGSSPMIKPK GDKQVEYLDL DLDSGKSTPP RKQKSSGSGS
660 670 680 690
SVADERVDYV VVDQQKTLAL KSTREAWTDG RQSTESETPA KSVK
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketD6RIF8 | D6RIF8_HUMAN | GRB2-associated-binding protein 1 | GAB1 | 176 | Annotation score: | ||
D6RIS0 | D6RIS0_HUMAN | GRB2-associated-binding protein 1 | GAB1 | 239 | Annotation score: | ||
H0YA71 | H0YA71_HUMAN | GRB2-associated-binding protein 1 | GAB1 | 91 | Annotation score: | ||
B7Z3B9 | B7Z3B9_HUMAN | GRB2-associated-binding protein 1 | GAB1 | 591 | Annotation score: | ||
H0Y8F4 | H0Y8F4_HUMAN | GRB2-associated-binding protein 1 | GAB1 | 94 | Annotation score: | ||
D6RF42 | D6RF42_HUMAN | GRB2-associated-binding protein 1 | GAB1 | 48 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 204 | A → G in AAC50380 (PubMed:8596638).Curated | 1 | |
Sequence conflicti | 213 | C → S in AAC50380 (PubMed:8596638).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_036132 | 83 | Y → C in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_080809 | 116 | G → E in DFNB26; results in dysregulation of MET-signaling pathway genes expression; does not affect interaction with METTL13. 1 PublicationCorresponds to variant dbSNP:rs1553950635EnsemblClinVar. | 1 | |
Natural variantiVAR_025261 | 311 | P → L1 PublicationCorresponds to variant dbSNP:rs28925904Ensembl. | 1 | |
Natural variantiVAR_053096 | 377 | T → I. Corresponds to variant dbSNP:rs2229879Ensembl. | 1 | |
Natural variantiVAR_036133 | 387 | T → N in a breast cancer sample; somatic mutation. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_017137 | 528 | K → KGQSPKILRLKPHGLERTDS QTIGDFATRRK in isoform 2. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U43885 mRNA Translation: AAC50380.1 DQ021880 Genomic DNA Translation: AAY26398.1 AK289767 mRNA Translation: BAF82456.1 AC097658 Genomic DNA No translation available. AC104685 Genomic DNA Translation: AAY40964.1 CH471056 Genomic DNA Translation: EAX05072.1 BC064848 mRNA Translation: AAH64848.1 |
CCDSi | CCDS3759.1 [Q13480-1] CCDS3760.1 [Q13480-2] |
PIRi | S68442 |
RefSeqi | NP_002030.2, NM_002039.3 [Q13480-1] NP_997006.1, NM_207123.2 [Q13480-2] |
Genome annotation databases
Ensembli | ENST00000262994.9; ENSP00000262994.4; ENSG00000109458.9 ENST00000262995.8; ENSP00000262995.4; ENSG00000109458.9 [Q13480-2] |
GeneIDi | 2549 |
KEGGi | hsa:2549 |
MANE-Selecti | ENST00000262994.9; ENSP00000262994.4; NM_002039.4; NP_002030.2 |
UCSCi | uc003ijd.4, human [Q13480-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
NIEHS-SNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U43885 mRNA Translation: AAC50380.1 DQ021880 Genomic DNA Translation: AAY26398.1 AK289767 mRNA Translation: BAF82456.1 AC097658 Genomic DNA No translation available. AC104685 Genomic DNA Translation: AAY40964.1 CH471056 Genomic DNA Translation: EAX05072.1 BC064848 mRNA Translation: AAH64848.1 |
CCDSi | CCDS3759.1 [Q13480-1] CCDS3760.1 [Q13480-2] |
PIRi | S68442 |
RefSeqi | NP_002030.2, NM_002039.3 [Q13480-1] NP_997006.1, NM_207123.2 [Q13480-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4QSY | X-ray | 2.10 | B | 621-633 | [»] | |
AlphaFoldDBi | Q13480 | |||||
SMRi | Q13480 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108824, 126 interactors |
CORUMi | Q13480 |
ELMi | Q13480 |
IntActi | Q13480, 117 interactors |
MINTi | Q13480 |
STRINGi | 9606.ENSP00000262995 |
Chemistry databases
ChEMBLi | CHEMBL4523286 |
Protein family/group databases
MoonDBi | Q13480, Predicted |
PTM databases
GlyGeni | Q13480, 2 sites, 1 O-linked glycan (2 sites) |
iPTMneti | Q13480 |
PhosphoSitePlusi | Q13480 |
Genetic variation databases
BioMutai | GAB1 |
DMDMi | 90180201 |
Proteomic databases
CPTACi | CPTAC-1557 |
EPDi | Q13480 |
jPOSTi | Q13480 |
MassIVEi | Q13480 |
MaxQBi | Q13480 |
PaxDbi | Q13480 |
PeptideAtlasi | Q13480 |
PRIDEi | Q13480 |
ProteomicsDBi | 59477 [Q13480-1] 59478 [Q13480-2] |
Protocols and materials databases
Antibodypediai | 3614, 390 antibodies from 41 providers |
DNASUi | 2549 |
Genome annotation databases
Ensembli | ENST00000262994.9; ENSP00000262994.4; ENSG00000109458.9 ENST00000262995.8; ENSP00000262995.4; ENSG00000109458.9 [Q13480-2] |
GeneIDi | 2549 |
KEGGi | hsa:2549 |
MANE-Selecti | ENST00000262994.9; ENSP00000262994.4; NM_002039.4; NP_002030.2 |
UCSCi | uc003ijd.4, human [Q13480-1] |
Organism-specific databases
CTDi | 2549 |
DisGeNETi | 2549 |
GeneCardsi | GAB1 |
HGNCi | HGNC:4066, GAB1 |
HPAi | ENSG00000109458, Tissue enhanced (brain) |
MalaCardsi | GAB1 |
MIMi | 604439, gene 605428, phenotype |
neXtProti | NX_Q13480 |
OpenTargetsi | ENSG00000109458 |
PharmGKBi | PA28477 |
VEuPathDBi | HostDB:ENSG00000109458 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3751, Eukaryota |
GeneTreei | ENSGT00940000156801 |
HOGENOMi | CLU_028652_0_0_1 |
InParanoidi | Q13480 |
OMAi | EPMRTHA |
PhylomeDBi | Q13480 |
TreeFami | TF329487 |
Enzyme and pathway databases
PathwayCommonsi | Q13480 |
Reactomei | R-HSA-109704, PI3K Cascade R-HSA-1236382, Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants R-HSA-1257604, PIP3 activates AKT signaling R-HSA-180292, GAB1 signalosome R-HSA-1963642, PI3K events in ERBB2 signaling R-HSA-2219530, Constitutive Signaling by Aberrant PI3K in Cancer R-HSA-5637810, Constitutive Signaling by EGFRvIII R-HSA-5654689, PI-3K cascade:FGFR1 R-HSA-5654695, PI-3K cascade:FGFR2 R-HSA-5654710, PI-3K cascade:FGFR3 R-HSA-5654720, PI-3K cascade:FGFR4 R-HSA-5655253, Signaling by FGFR2 in disease R-HSA-5655291, Signaling by FGFR4 in disease R-HSA-5655302, Signaling by FGFR1 in disease R-HSA-6811558, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling R-HSA-8851907, MET activates PI3K/AKT signaling R-HSA-8853334, Signaling by FGFR3 fusions in cancer R-HSA-8853338, Signaling by FGFR3 point mutants in cancer R-HSA-8853659, RET signaling R-HSA-8865999, MET activates PTPN11 R-HSA-8875555, MET activates RAP1 and RAC1 R-HSA-8875656, MET receptor recycling R-HSA-9027276, Erythropoietin activates Phosphoinositide-3-kinase (PI3K) R-HSA-9028335, Activated NTRK2 signals through PI3K R-HSA-9664565, Signaling by ERBB2 KD Mutants R-HSA-9665348, Signaling by ERBB2 ECD mutants |
SignaLinki | Q13480 |
SIGNORi | Q13480 |
Miscellaneous databases
BioGRID-ORCSi | 2549, 58 hits in 1077 CRISPR screens |
ChiTaRSi | GAB1, human |
GeneWikii | GAB1 |
GenomeRNAii | 2549 |
Pharosi | Q13480, Tchem |
PROi | PR:Q13480 |
RNActi | Q13480, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000109458, Expressed in corpus callosum and 231 other tissues |
ExpressionAtlasi | Q13480, baseline and differential |
Genevisiblei | Q13480, HS |
Family and domain databases
Gene3Di | 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR046355, Gab1-4-like IPR011993, PH-like_dom_sf IPR001849, PH_domain |
PANTHERi | PTHR45960, PTHR45960, 1 hit |
Pfami | View protein in Pfam PF00169, PH, 1 hit |
SMARTi | View protein in SMART SM00233, PH, 1 hit |
PROSITEi | View protein in PROSITE PS50003, PH_DOMAIN, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | GAB1_HUMAN | |
Accessioni | Q13480Primary (citable) accession number: Q13480 Secondary accession number(s): A8K152, Q4W5G2, Q6P1W2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 13, 2004 |
Last sequence update: | February 7, 2006 | |
Last modified: | May 25, 2022 | |
This is version 193 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families