Q13480

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession GAB1_HUMAN; Q13480;
Entrez ID 2549
GenBank Protein ID NM_002039.3; NM_207123.2;
GenBank Nucleotide ID NP_002030.2; NP_997006.1;
Protein Name GRB2-associated-binding protein 1 (GRB2-associated binder 1) (Growth factor receptor bound protein 2-associated protein 1)
Gene Name GAB1
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionAdapter 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).
Sequence
(Fasta)
MSGGEVVCSG WLRKSPPEKK LKRYAWKRRW FVLRSGRLTG DPDVLEYYKN DHAKKPIRII 60
DLNLCQQVDA GLTFNKKEFE NSYIFDINTI DRIFYLVADS EEEMNKWVRC ICDICGFNPT 120
EEDPVKPPGS SLQAPADLPL AINTAPPSTQ ADSSSATLPP PYQLINVPPH LETLGIQEDP 180
QDYLLLINCQ SKKPEPTRTH ADSAKSTSSE TDCNDNVPSH KNPASSQSKH GMNGFFQQQM 240
IYDSPPSRAP SASVDSSLYN LPRSYSHDVL PKVSPSSTEA DGELYVFNTP SGTSSVETQM 300
RHVSISYDIP PTPGNTYQIP RTFPEGTLGQ TSKLDTIPDI PPPRPPKPHP AHDRSPVETC 360
SIPRTASDTD SSYCIPTAGM SPSRSNTIST VDLNKLRKDA SSQDCYDIPR AFPSDRSSSL 420
EGFHNHFKVK NVLTVGSVSS EELDENYVPM NPNSPPRQHS SSFTEPIQEA NYVPMTPGTF 480
DFSSFGMQVP PPAHMGFRSS PKTPPRRPVP VADCEPPPVD RNLKPDRKVK PAPLEIKPLP 540
EWEELQAPVR SPITRSFARD SSRFPMSPRP DSVHSTTSSS DSHDSEENYV PMNPNLSSED 600
PNLFGSNSLD GGSSPMIKPK GDKQVEYLDL DLDSGKSTPP RKQKSSGSGS SVADERVDYV 660
VVDQQKTLAL KSTREAWTDG RQSTESETPA KSVK 695

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1Threonine PhosphorylationBreast cancer/tumor/carcinomaNT38722751113
[Reference]: To gain further insights into the mechanism of action of these mutations, we mapped Gab1 phosphorylation sites by mass spectrometry. This detected phosphorylation of T387 but ;not Y83

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 1)
MESH:D011085 ; Polycystic Ovary Syndrome
DisGeNet (Curated)
(count: 1)
C0032460; Polycystic Ovary Syndrome
GWASdb
(count: 19)
(view all)
rs300917; Multiple complex diseases; Null
rs300916; Multiple complex diseases; Null
rs300916; Asthma; asthma
rs300915; Multiple complex diseases; Null
rs300915; Urate levels; gout
rs300913; Multiple complex diseases; Null

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 72)
(view all)
183       IQEDPQDYLLLINCQ     dbPAF
206       THADSAKSTSSETDC     dbPAF
208       ADSAKSTSSETDCND     dbPAF
209       DSAKSTSSETDCNDN     dbPAF
211       AKSTSSETDCNDNVP     dbPAF
242       FFQQQMIYDSPPSRA     dbPAF

※ Protein-Protein Interaction

NetworkInteraction
ABSource