Q0VAM2

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession RGF1B_HUMAN; Q0VAM2;
Entrez ID 153020
GenBank Protein ID NM_001300735.1; NM_001300736.1; NM_152545.2; XM_017007813.1;
GenBank Nucleotide ID NP_001287664.1; NP_001287665.1; NP_689758.1; XP_016863302.1;
Protein Name Ras-GEF domain-containing family member 1B (GPI gamma-4)
Gene Name RASGEF1B; GPIG4
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionGuanine nucleotide exchange factor (GEF) with specificity for RAP2A, it doesn't seems to activate other Ras family proteins (in vitro).
Sequence
(Fasta)
MPQTPPFSAM FDSSGYNRNL YQSAEDSCGG LYYHDNNLLS GSLEALIQHL VPNVDYYPDR 60
TYIFTFLLSS RLFMHPYELM AKVCHLCVEH QRLSDPDSDK NQMRKIAPKI LQLLTEWTET 120
FPYDFRDERM MRNLKDLAHR IASGEEQTYR KNVQQMMQCL IRKLAALSQY EEVLAKISST 180
STDRLTVLKT KPQSIQRDII TVCNDPYTLA QQLTHIELER LNYIGPEEFV QAFVQKDPLD 240
NDKSCYSERK KTRNLEAYVE WFNRLSYLVA TEICMPVKKK HRARMIEYFI DVARECFNIG 300
NFNSLMAIIS GMNMSPVSRL KKTWAKVKTA KFDILEHQMD PSSNFYNYRT ALRGAAQRSL 360
TAHSSREKIV IPFFSLLIKD IYFLNEGCAN RLPNGHVNFE KFWELAKQVS EFMTWKQVEC 420
PFERDRKILQ YLLTVPVFSE DALYLASYES EGPENHIEKD RWKSLRSSLL GRV 474

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1O-linked glycosylationChagas diseaseP23430107
[Reference]: The O-glycosylation of T. cruzi mucins (Tc-mucins) is initiated by enzymatic addition of -O-N-acetylglucosamine (GlcNAc) to threonine (Thr) by the UDP-GlcNAc:polypeptide -N-acetylglucosaminyltransferase (pp--GlcNAcT) in the Golgi.

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 1)
MESH:D001171 ; Arthritis, Juvenile
DisGeNet (Curated)
(count: 1)
C3495559; Juvenile arthritis
GWASdb
(count: 10)
(view all)
rs755527; Intracerebral hemorrhage; cerebrovascular disease
rs1077802; Intracerebral hemorrhage; cerebrovascular disease
rs1077803; Intracerebral hemorrhage; cerebrovascular disease
rs28409763; Intracerebral hemorrhage; cerebrovascular disease
rs1562138; Intracerebral hemorrhage; cerebrovascular disease
rs9307783; Intracerebral hemorrhage; cerebrovascular disease

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 7)
(view all)
170       KLAALSQYEEVLAKI     dbPAF
179       EVLAKISSTSTDRLT     dbPAF
266       VEWFNRLSYLVATEI     dbPAF
267       EWFNRLSYLVATEIC     dbPAF
271       RLSYLVATEICMPVK     dbPAF
323       PVSRLKKTWAKVKTA     dbPAF