UniProt functional annotation for Q07889



	UniProt functional annotation for Q07889

UniProt code: Q07889.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Promotes the exchange of Ras-bound GDP by GTP (PubMed:8493579). Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3 in response to EGF (PubMed:17339331). Catalytic component of a trimeric complex that participates in transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange factor (GEF) activity (By similarity). {ECO:0000250|UniProtKB:Q62245, ECO:0000269|PubMed:17339331, ECO:0000269|PubMed:8493579}.

Subunit: Interacts (via C-terminus) with GRB2 (via SH3 domain) (PubMed:8493579, PubMed:7664271). Forms a complex with phosphorylated MUC1 and GRB2 (via its SH3 domains) (PubMed:7664271). Interacts with phosphorylated LAT2 (PubMed:12486104). Interacts with NCK1 and NCK2 (PubMed:10026169). Part of a complex consisting of ABI1, EPS8 and SOS1 (By similarity). Interacts (Ser-1134 and Ser-1161 phosphorylated form) with YWHAB and YWHAE (PubMed:22827337). {ECO:0000250|UniProtKB:Q62245, ECO:0000269|PubMed:10026169, ECO:0000269|PubMed:12486104, ECO:0000269|PubMed:22827337, ECO:0000269|PubMed:7664271, ECO:0000269|PubMed:8493579}.

Tissue specificity: Expressed in gingival tissues. {ECO:0000269|PubMed:11868160}.

Ptm: Phosphorylation at Ser-1134 and Ser-1161 by RPS6KA3 create YWHAB and YWHAE binding sites and which contribute to the negative regulation of EGF-induced MAPK1/3 phosphorylation. {ECO:0000269|PubMed:22827337}.

Disease: Fibromatosis, gingival, 1 (GINGF1) [MIM:135300]: A form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth. GINGF1 is usually transmitted as an autosomal dominant trait, although sporadic cases are common. {ECO:0000269|PubMed:11868160}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Noonan syndrome 4 (NS4) [MIM:610733]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS4 have polyarticular villonodular synovitis. {ECO:0000269|PubMed:17143282, ECO:0000269|PubMed:17143285, ECO:0000269|PubMed:19020799, ECO:0000269|PubMed:19438935, ECO:0000269|PubMed:19953625, ECO:0000269|PubMed:20673819, ECO:0000269|PubMed:20683980, ECO:0000269|PubMed:21387466}. Note=The disease is caused by variants affecting the gene represented in this entry.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Promotes the exchange of Ras-bound GDP by GTP (PubMed:8493579). Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3 in response to EGF (PubMed:17339331). Catalytic component of a trimeric complex that participates in transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange factor (GEF) activity (By similarity). {ECO:0000250\|UniProtKB:Q62245, ECO:0000269\|PubMed:17339331, ECO:0000269\|PubMed:8493579}.


Subunit:		Interacts (via C-terminus) with GRB2 (via SH3 domain) (PubMed:8493579, PubMed:7664271). Forms a complex with phosphorylated MUC1 and GRB2 (via its SH3 domains) (PubMed:7664271). Interacts with phosphorylated LAT2 (PubMed:12486104). Interacts with NCK1 and NCK2 (PubMed:10026169). Part of a complex consisting of ABI1, EPS8 and SOS1 (By similarity). Interacts (Ser-1134 and Ser-1161 phosphorylated form) with YWHAB and YWHAE (PubMed:22827337). {ECO:0000250\|UniProtKB:Q62245, ECO:0000269\|PubMed:10026169, ECO:0000269\|PubMed:12486104, ECO:0000269\|PubMed:22827337, ECO:0000269\|PubMed:7664271, ECO:0000269\|PubMed:8493579}.
Tissue specificity:		Expressed in gingival tissues. {ECO:0000269\|PubMed:11868160}.
Ptm:		Phosphorylation at Ser-1134 and Ser-1161 by RPS6KA3 create YWHAB and YWHAE binding sites and which contribute to the negative regulation of EGF-induced MAPK1/3 phosphorylation. {ECO:0000269\|PubMed:22827337}.
Disease:		Fibromatosis, gingival, 1 (GINGF1) [MIM:135300]: A form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth. GINGF1 is usually transmitted as an autosomal dominant trait, although sporadic cases are common. {ECO:0000269\|PubMed:11868160}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Noonan syndrome 4 (NS4) [MIM:610733]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS4 have polyarticular villonodular synovitis. {ECO:0000269\|PubMed:17143282, ECO:0000269\|PubMed:17143285, ECO:0000269\|PubMed:19020799, ECO:0000269\|PubMed:19438935, ECO:0000269\|PubMed:19953625, ECO:0000269\|PubMed:20673819, ECO:0000269\|PubMed:20683980, ECO:0000269\|PubMed:21387466}. Note=The disease is caused by variants affecting the gene represented in this entry.