UniProt functional annotation for Q9UQ13



	UniProt functional annotation for Q9UQ13

UniProt code: Q9UQ13.

Organism: Homo sapiens (Human).

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

Function: Regulatory subunit of protein phosphatase 1 (PP1c) that acts as a M-Ras/MRAS effector and participates in MAPK pathway activation. Upon M-Ras/MRAS activation, targets PP1c to specifically dephosphorylate the 'Ser-259' inhibitory site of RAF1 kinase and stimulate RAF1 activity at specialized signaling complexes. {ECO:0000269|PubMed:10783161, ECO:0000269|PubMed:16630891, ECO:0000269|PubMed:25137548}.

Subunit: Interacts with M-Ras/MRAS, and RAF1 (PubMed:16630891, PubMed:25137548). Forms a multiprotein complex with Ras (M-Ras/MRAS), Raf (RAF1) and protein phosphatase 1 (PPP1CA, PPP1CB and PPP1CC) (PubMed:16630891, PubMed:25137548). Interacts with ERBIN; disrupts the interaction with RAF1 and Ras, leading to prevent activation of the Ras signaling pathway (PubMed:16301319). Specifically binds K-Ras/KRAS, M- Ras/MRAS and N-Ras/NRAS but not H-Ras/HRAS (PubMed:9674433). Interacts with LZTR1 (PubMed:30368668). {ECO:0000269|PubMed:16301319, ECO:0000269|PubMed:16630891, ECO:0000269|PubMed:25137548, ECO:0000269|PubMed:30368668, ECO:0000269|PubMed:9674433}.

Subcellular location: Cytoplasm {ECO:0000269|PubMed:19684605, ECO:0000269|PubMed:25137548}. Nucleus {ECO:0000269|PubMed:19684605, ECO:0000269|PubMed:25137548}. Note=Translocates from cytoplasm to nucleus upon growth factor stimulation. {ECO:0000269|PubMed:19684605}.

Disease: Noonan syndrome-like disorder with loose anagen hair 1 (NSLH1) [MIM:607721]: A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair. {ECO:0000269|PubMed:19684605, ECO:0000269|PubMed:23918763, ECO:0000269|PubMed:25137548}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the SHOC2 family. {ECO:0000305}.

Sequence caution: Sequence=BAA74885.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAG52235.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={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:		Regulatory subunit of protein phosphatase 1 (PP1c) that acts as a M-Ras/MRAS effector and participates in MAPK pathway activation. Upon M-Ras/MRAS activation, targets PP1c to specifically dephosphorylate the 'Ser-259' inhibitory site of RAF1 kinase and stimulate RAF1 activity at specialized signaling complexes. {ECO:0000269\|PubMed:10783161, ECO:0000269\|PubMed:16630891, ECO:0000269\|PubMed:25137548}.


Subunit:		Interacts with M-Ras/MRAS, and RAF1 (PubMed:16630891, PubMed:25137548). Forms a multiprotein complex with Ras (M-Ras/MRAS), Raf (RAF1) and protein phosphatase 1 (PPP1CA, PPP1CB and PPP1CC) (PubMed:16630891, PubMed:25137548). Interacts with ERBIN; disrupts the interaction with RAF1 and Ras, leading to prevent activation of the Ras signaling pathway (PubMed:16301319). Specifically binds K-Ras/KRAS, M- Ras/MRAS and N-Ras/NRAS but not H-Ras/HRAS (PubMed:9674433). Interacts with LZTR1 (PubMed:30368668). {ECO:0000269\|PubMed:16301319, ECO:0000269\|PubMed:16630891, ECO:0000269\|PubMed:25137548, ECO:0000269\|PubMed:30368668, ECO:0000269\|PubMed:9674433}.
Subcellular location:		Cytoplasm {ECO:0000269\|PubMed:19684605, ECO:0000269\|PubMed:25137548}. Nucleus {ECO:0000269\|PubMed:19684605, ECO:0000269\|PubMed:25137548}. Note=Translocates from cytoplasm to nucleus upon growth factor stimulation. {ECO:0000269\|PubMed:19684605}.
Disease:		Noonan syndrome-like disorder with loose anagen hair 1 (NSLH1) [MIM:607721]: A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair. {ECO:0000269\|PubMed:19684605, ECO:0000269\|PubMed:23918763, ECO:0000269\|PubMed:25137548}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the SHOC2 family. {ECO:0000305}.
Sequence caution:		Sequence=BAA74885.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAG52235.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};