SHOC2
entrez
8036
canonical
uniprot
Q9UQ13
canonical
ensembl
ENSG00000108061
resolver
ensp
ENSP00000265277
resolver
ensp
ENSP00000358464
resolver
ensp
ENSP00000408275
resolver
ensp
ENSP00000509273
resolver
ensp
ENSP00000509686
resolver
ensp
ENSP00000509754
resolver
ensp
ENSP00000510314
resolver
ensp
ENSP00000510639
resolver
ensp
ENSP00000510700
resolver
ensp
ENSP00000597966
resolver
enst
ENST00000451838
resolver
enst
ENST00000689997
resolver
enst
ENST00000691903
resolver
genesymbol
SHOC2
resolver
genesymbol_syn
KIAA0862
resolver
hgnc
HGNC:15454
resolver
uniprot
A0A8I5QJS4
resolver
uniprot
A8K9W8
resolver
uniprot
B3KR23
resolver
uniprot
O76063
resolver
uniprot
Q5VZS8
resolver
uniprot
Q5VZS9
resolver
uniprot
X6RI37
resolver
uniprot_entry
A0A8I5QJS4_HUMAN
resolver
uniprot_entry
SHOC2_HUMAN
resolver
uniprot_entry
X6RI37_HUMAN
resolver
uniprot_sec
A8K9W8
resolver
uniprot_sec
B3KR23
resolver
uniprot_sec
O76063
resolver
uniprot_sec
Q5VZS8
resolver
uniprot_sec
Q5VZS9
resolver
amino_acid_sequence
MSSSLGKEKDSKEKDPKVPSAKEREKEAKASGGFGKESKEKEPKTKGKDAKDGKKDSSAAQPGVAFSVDNTIKRPNPAPGTRKKSSNAEVIKELNKCREENSMRLDLSKRSIHILPSSIKELTQLTELYLYSNKLQSLPAEVGCLVNLMTLALSENSLTSLPDSLDNLKKLRMLDLRHNKLREIPSVVYRLDSLTTLYLRFNRITTVEKDIKNLSKLSMLSIRENKIKQLPAEIGELCNLITLDVAHNQLEHLPKEIGNCTQITNLDLQHNELLDLPDTIGNLSSLSRLGLRYNRLSAIPRSLAKCSALEELNLENNNISTLPESLLSSLVKLNSLTLARNCFQLYPVGGPSQFSTIYSLNMEHNRINKIPFGIFSRAKVLSKLNMKDNQLTSLPLDFGTWTSMVELNLATNQLTKIPEDVSGLVSLEVLILSNNLLKKLPHGLGNLRKLRELDLEENKLESLPNEIAYLKDLQKLVLTNNQLTTLPRGIGHLTNLTHLGLGENLLTHLPEEIGTLENLEELYLNDNPNLHSLPFELALCSKLSIMSIENCPLSHLPPQIVAGGPSFIIQFLKMQGPYRAMV
uniprot
proteins
disease_involvement
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.
uniprot
proteins
function
FUNCTION: Core component of the SHOC2-MRAS-PP1c (SMP) holophosphatase complex that regulates activation of the MAPK pathway (PubMed:10783161, PubMed:16630891, PubMed:25137548, PubMed:35768504, PubMed:35830882, PubMed:35831509, PubMed:36175670). Acts as a scaffolding protein in the SMP complex (PubMed:35768504, PubMed:35830882, PubMed:35831509, PubMed:36175670). The SMP complex specifically dephosphorylates the inhibitory phosphorylation at 'Ser-259' of RAF1 kinase, 'Ser-365' of BRAF kinase and 'Ser-214' of ARAF kinase, stimulating their kinase activities (PubMed:10783161, PubMed:16630891, PubMed:35768504, PubMed:35830882, PubMed:35831509, PubMed:36175670). The SMP complex enhances the dephosphorylation activity and substrate specificity of PP1c (PubMed:35768504, PubMed:36175670). Acts as an inhibitor of keratinocyte differentiation via interaction with RAS protein complexes that promote ERK activation (PubMed:23524970). {ECO:0000269|PubMed:10783161, ECO:0000269|PubMed:16630891, ECO:0000269|PubMed:23524970, ECO:0000269|PubMed:25137548, ECO:0000269|PubMed:35768504, ECO:0000269|PubMed:35830882, ECO:0000269|PubMed:35831509, ECO:0000269|PubMed:36175670}.
uniprot
proteins
mass_dalton
64888
uniprot
proteins
mutagenesis
MUTAGEN 64; /note="V->A,G: Impairs SMP complex formation."; /evidence="ECO:0000269|PubMed:35831509, ECO:0000269|PubMed:36175670"; MUTAGEN 66; /note="F->A,V: Impairs SMP complex formation."; /evidence="ECO:0000269|PubMed:35831509, ECO:0000269|PubMed:36175670"; MUTAGEN 109; /note="K->E: Impairs SMP complex formation."; /evidence="ECO:0000269|PubMed:35768504"; MUTAGEN 129; /note="Y->A: Abolishes SMP complex formation; when associated with A-131."; /evidence="ECO:0000269|PubMed:36175670"; MUTAGEN 131; /note="Y->A: Abolishes SMP complex formation; when associated with A-129."; /evidence="ECO:0000269|PubMed:36175670"; MUTAGEN 131; /note="Y->E: Impairs SMP complex formation."; /evidence="ECO:0000269|PubMed:35831509"; MUTAGEN 134; /note="K->E: Impairs SMP complex formation; when associated with E-180 and E-226."; /evidence="ECO:0000269|PubMed:35768504"; MUTAGEN 155; /note="E->A: Impairs SMP complex formation."; /evidence="ECO:0000269|PubMed:36175670"; MUTAGEN 175; /note="D->N: Abolishes SMP complex formation."; /evidence="ECO:0000269|PubMed:35768504, ECO:0000269|PubMed:36175670"; MUTAGEN 177; /note="R->A: Abolishes SMP complex formation."; /evidence="ECO:0000269|PubMed:36175670"; MUTAGEN 180; /note="K->E: Impairs SMP complex formation; when associated with E-134 and E-226."; /evidence="ECO:0000269|PubMed:35768504"; MUTAGEN 223; /note="R->A,F: Impairs SMP complex formation."; /evidence="ECO:0000269|PubMed:35831509, ECO:0000269|PubMed:36175670"; MUTAGEN 226; /note="K->E: Impairs SMP complex formation; when associated with E-134 and E-180."; /evidence="ECO:0000269|PubMed:35768504"; MUTAGEN 269; /note="Q->H: Promotes SMP complex formation; when associated with Y-270."; /evidence="ECO:0000269|PubMed:35768504"; MUTAGEN 270; /note="H->Y: Promotes SMP complex formation; when associated with H-269."; /evidence="ECO:0000269|PubMed:35768504"; MUTAGEN 457; /note="E->K: Impairs SMP complex formation. Impairs SMP complex formation; when associated with K-503."; /evidence="ECO:0000269|PubMed:35768504, ECO:0000269|PubMed:35831509"; MUTAGEN 503; /note="E->K: Impairs SMP complex formation; when associated with K-457."; /evidence="ECO:0000269|PubMed:35768504
uniprot
proteins
protein_family
SHOC2 family
uniprot
proteins
pubmed
10048485
uniprot
proteins
pubmed
10783161
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16301319
uniprot
proteins
pubmed
16630891
uniprot
proteins
pubmed
19684605
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23524970
uniprot
proteins
pubmed
23918763
uniprot
proteins
pubmed
25137548
uniprot
proteins
pubmed
30368668
uniprot
proteins
pubmed
35768504
uniprot
proteins
pubmed
35830882
uniprot
proteins
pubmed
35831509
uniprot
proteins
pubmed
36175670
uniprot
proteins
pubmed
9618511
uniprot
proteins
pubmed
9674433
uniprot
proteins
sequence_length
582
uniprot
proteins
subcellular_location
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}.
uniprot
proteins