Human Gene SHOC2 (ENST00000369452.9) Description and Page Index
Description: Homo sapiens SHOC2 leucine rich repeat scaffold protein (SHOC2), transcript variant 5, non-coding RNA. (from RefSeq NR_136749) RefSeq Summary (NM_007373): This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]. Gencode Transcript: ENST00000369452.9 Gencode Gene: ENSG00000108061.12 Transcript (Including UTRs) Position: hg38 chr10:110,919,604-111,013,665 Size: 94,062 Total Exon Count: 9 Strand: + Coding Region Position: hg38 chr10:110,964,359-111,011,818 Size: 47,460 Coding Exon Count: 8
ID:SHOC2_HUMAN DESCRIPTION: RecName: Full=Leucine-rich repeat protein SHOC-2; AltName: Full=Protein soc-2 homolog; AltName: Full=Protein sur-8 homolog; 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. SUBUNIT: Interacts with M-Ras/MRAS, and RAF1. Forms a multiprotein complex with Ras (M-Ras/MRAS), Raf (RAF1) and protein phosphatase 1 (PPP1CA, PPP1CB and PPP1CC). Interacts with ERBB2IP; disrupts the interaction with RAF1 and Ras, leading to prevent activation of the Ras signaling pathway. Specifically binds K-Ras/KRAS, M- Ras/MRAS and N-Ras/NRAS but not H-Ras/HRAS. SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Translocates from cytoplasm to nucleus upon growth factor stimulation. DISEASE: Defects in SHOC2 are the cause of Noonan syndrome-like disorder with loose anagen hair (NSLH) [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. SIMILARITY: Belongs to the SHOC2 family. SIMILARITY: Contains 20 LRR (leucine-rich) repeats. SEQUENCE CAUTION: Sequence=BAA74885.2; Type=Erroneous initiation; Sequence=BAG52235.1; Type=Erroneous initiation; Sequence=CAH72813.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=Protein Spotlight; Note=The matchmaker - Issue 121 of September 2010; URL="http://web.expasy.org/spotlight/back_issues/sptlt121.shtml";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UQ13
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0007265 Ras protein signal transduction GO:0008543 fibroblast growth factor receptor signaling pathway GO:0043666 regulation of phosphoprotein phosphatase activity GO:0046579 positive regulation of Ras protein signal transduction