UniProt functional annotation for O14807



	UniProt functional annotation for O14807

UniProt code: O14807.

Organism: Homo sapiens (Human).

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

Function: Serves as an important signal transducer for a novel upstream stimuli in controlling cell proliferation. Activates the MAP kinase pathway. {ECO:0000269|PubMed:16630891, ECO:0000269|PubMed:28289718}.

Catalytic activity: Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; EC=3.6.5.2; Evidence={ECO:0000250|UniProtKB:P01116};

Subunit: Interacts with RGL3. Interacts (active GTP-bound form preferentially) with RGS14 (By similarity). Forms a multiprotein complex with SHOC2, Raf (RAF1) and protein phosphatase 1 (PPP1CA, PPP1CB and PPP1CC). {ECO:0000250|UniProtKB:P97538, ECO:0000269|PubMed:16630891}.

Subcellular location: Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}.

Tissue specificity: Expression highly restricted to the brain and heart.

Induction: By IL9/interleukin-9, but not by IL2/interleukin-2 or IL4/interleukin-4.

Disease: Noonan syndrome 11 (NS11) [MIM:618499]: 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. NS11 inheritance is autosomal dominant. {ECO:0000269|PubMed:28289718, ECO:0000269|PubMed:31173466}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the small GTPase superfamily. Ras family. {ECO:0000305}.

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:		Serves as an important signal transducer for a novel upstream stimuli in controlling cell proliferation. Activates the MAP kinase pathway. {ECO:0000269\|PubMed:16630891, ECO:0000269\|PubMed:28289718}.


Catalytic activity:		Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; EC=3.6.5.2; Evidence={ECO:0000250\|UniProtKB:P01116};
Subunit:		Interacts with RGL3. Interacts (active GTP-bound form preferentially) with RGS14 (By similarity). Forms a multiprotein complex with SHOC2, Raf (RAF1) and protein phosphatase 1 (PPP1CA, PPP1CB and PPP1CC). {ECO:0000250\|UniProtKB:P97538, ECO:0000269\|PubMed:16630891}.
Subcellular location:		Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}.
Tissue specificity:		Expression highly restricted to the brain and heart.
Induction:		By IL9/interleukin-9, but not by IL2/interleukin-2 or IL4/interleukin-4.
Disease:		Noonan syndrome 11 (NS11) [MIM:618499]: 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. NS11 inheritance is autosomal dominant. {ECO:0000269\|PubMed:28289718, ECO:0000269\|PubMed:31173466}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the small GTPase superfamily. Ras family. {ECO:0000305}.