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Protein

Leucine-rich repeat protein SHOC-2

Gene

SHOC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.3 Publications

GO - Molecular functioni

  • protein phosphatase 1 binding Source: UniProtKB
  • protein phosphatase binding Source: UniProtKB
  • protein phosphatase regulator activity Source: UniProtKB

GO - Biological processi

  • fibroblast growth factor receptor signaling pathway Source: UniProtKB
  • positive regulation of Ras protein signal transduction Source: UniProtKB
  • Ras protein signal transduction Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000108061-MONOMER.
SignaLinkiQ9UQ13.
SIGNORiQ9UQ13.

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat protein SHOC-2
Alternative name(s):
Protein soc-2 homolog
Protein sur-8 homolog
Gene namesi
Name:SHOC2
Synonyms:KIAA0862
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:15454. SHOC2.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
  • protein phosphatase type 1 complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Noonan syndrome-like disorder with loose anagen hair (NSLH)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:607721
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0601992S → G in NSLH; creates a N-myristoylation site, resulting in myristoylation of the protein and aberrant targeting to the plasma membrane. 2 PublicationsCorresponds to variant rs267607048dbSNPEnsembl.1
Natural variantiVAR_074030173M → I in NSLH; significantly decreases ERK1/2 activity; does not affect cytoplasm and nucleus localization; does not affect SHOC2-MRAS-RAF1 complex assembly; impairs interaction with phosphatase 1c. 1 PublicationCorresponds to variant rs730881020dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi8036.
MalaCardsiSHOC2.
MIMi607721. phenotype.
OpenTargetsiENSG00000108061.
Orphaneti2701. Noonan syndrome-like disorder with loose anagen hair.
PharmGKBiPA37960.

Polymorphism and mutation databases

BioMutaiSHOC2.
DMDMi14423936.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000977371 – 582Leucine-rich repeat protein SHOC-2Add BLAST582

Proteomic databases

EPDiQ9UQ13.
PaxDbiQ9UQ13.
PeptideAtlasiQ9UQ13.
PRIDEiQ9UQ13.

PTM databases

iPTMnetiQ9UQ13.
PhosphoSitePlusiQ9UQ13.

Expressioni

Gene expression databases

BgeeiENSG00000108061.
CleanExiHS_SHOC2.
ExpressionAtlasiQ9UQ13. baseline and differential.
GenevisibleiQ9UQ13. HS.

Organism-specific databases

HPAiHPA009164.

Interactioni

Subunit structurei

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 ERBIN; 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.4 Publications

GO - Molecular functioni

  • protein phosphatase 1 binding Source: UniProtKB
  • protein phosphatase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi113729. 13 interactors.
IntActiQ9UQ13. 7 interactors.
MINTiMINT-131517.
STRINGi9606.ENSP00000358464.

Structurei

3D structure databases

ProteinModelPortaliQ9UQ13.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati101 – 122LRR 1Add BLAST22
Repeati124 – 145LRR 2Add BLAST22
Repeati147 – 169LRR 3Add BLAST23
Repeati170 – 191LRR 4Add BLAST22
Repeati193 – 214LRR 5Add BLAST22
Repeati216 – 237LRR 6Add BLAST22
Repeati239 – 260LRR 7Add BLAST22
Repeati262 – 283LRR 8Add BLAST22
Repeati285 – 307LRR 9Add BLAST23
Repeati308 – 329LRR 10Add BLAST22
Repeati332 – 353LRR 11Add BLAST22
Repeati356 – 377LRR 12Add BLAST22
Repeati380 – 400LRR 13Add BLAST21
Repeati403 – 424LRR 14Add BLAST22
Repeati426 – 448LRR 15Add BLAST23
Repeati449 – 470LRR 16Add BLAST22
Repeati472 – 494LRR 17Add BLAST23
Repeati495 – 516LRR 18Add BLAST22
Repeati518 – 540LRR 19Add BLAST23
Repeati542 – 563LRR 20Add BLAST22

Sequence similaritiesi

Belongs to the SHOC2 family.Curated
Contains 20 LRR (leucine-rich) repeats.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129686.
HOGENOMiHOG000116557.
HOVERGENiHBG055661.
InParanoidiQ9UQ13.
KOiK19613.
OMAiEAPTLCF.
OrthoDBiEOG091G05NZ.
PhylomeDBiQ9UQ13.
TreeFamiTF315742.

Family and domain databases

Gene3Di3.80.10.10. 4 hits.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
[Graphical view]
PfamiPF13855. LRR_8. 4 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 16 hits.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 2 hits.
PROSITEiPS51450. LRR. 17 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UQ13-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSSSLGKEKD SKEKDPKVPS AKEREKEAKA SGGFGKESKE KEPKTKGKDA
60 70 80 90 100
KDGKKDSSAA QPGVAFSVDN TIKRPNPAPG TRKKSSNAEV IKELNKCREE
110 120 130 140 150
NSMRLDLSKR SIHILPSSIK ELTQLTELYL YSNKLQSLPA EVGCLVNLMT
160 170 180 190 200
LALSENSLTS LPDSLDNLKK LRMLDLRHNK LREIPSVVYR LDSLTTLYLR
210 220 230 240 250
FNRITTVEKD IKNLSKLSML SIRENKIKQL PAEIGELCNL ITLDVAHNQL
260 270 280 290 300
EHLPKEIGNC TQITNLDLQH NELLDLPDTI GNLSSLSRLG LRYNRLSAIP
310 320 330 340 350
RSLAKCSALE ELNLENNNIS TLPESLLSSL VKLNSLTLAR NCFQLYPVGG
360 370 380 390 400
PSQFSTIYSL NMEHNRINKI PFGIFSRAKV LSKLNMKDNQ LTSLPLDFGT
410 420 430 440 450
WTSMVELNLA TNQLTKIPED VSGLVSLEVL ILSNNLLKKL PHGLGNLRKL
460 470 480 490 500
RELDLEENKL ESLPNEIAYL KDLQKLVLTN NQLTTLPRGI GHLTNLTHLG
510 520 530 540 550
LGENLLTHLP EEIGTLENLE ELYLNDNPNL HSLPFELALC SKLSIMSIEN
560 570 580
CPLSHLPPQI VAGGPSFIIQ FLKMQGPYRA MV
Length:582
Mass (Da):64,888
Last modified:June 20, 2001 - v2
Checksum:iF3F828646642A855
GO
Isoform 2 (identifier: Q9UQ13-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     234-279: Missing.

Note: No experimental confirmation available.
Show »
Length:536
Mass (Da):59,743
Checksum:i7F662A1A4580F3B7
GO

Sequence cautioni

The sequence BAA74885 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAG52235 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAH72813 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti475K → E in BAF85522 (PubMed:14702039).Curated1
Sequence conflicti535F → L in BAA74885 (PubMed:10048485).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0601992S → G in NSLH; creates a N-myristoylation site, resulting in myristoylation of the protein and aberrant targeting to the plasma membrane. 2 PublicationsCorresponds to variant rs267607048dbSNPEnsembl.1
Natural variantiVAR_074030173M → I in NSLH; significantly decreases ERK1/2 activity; does not affect cytoplasm and nucleus localization; does not affect SHOC2-MRAS-RAF1 complex assembly; impairs interaction with phosphatase 1c. 1 PublicationCorresponds to variant rs730881020dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_038188234 – 279Missing in isoform 2. 1 PublicationAdd BLAST46

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF068920 mRNA. Translation: AAC39856.1.
AF054828 mRNA. Translation: AAC25698.1.
AB020669 mRNA. Translation: BAA74885.2. Different initiation.
AK090820 mRNA. Translation: BAG52235.1. Different initiation.
AK292833 mRNA. Translation: BAF85522.1.
AL158163 Genomic DNA. Translation: CAH72812.1.
AL158163 Genomic DNA. Translation: CAH72813.1. Sequence problems.
CH471066 Genomic DNA. Translation: EAW49548.1.
BC050445 mRNA. Translation: AAH50445.1.
CCDSiCCDS58095.1. [Q9UQ13-2]
CCDS7568.1. [Q9UQ13-1]
RefSeqiNP_001255968.1. NM_001269039.2. [Q9UQ13-2]
NP_001311265.1. NM_001324336.1. [Q9UQ13-1]
NP_001311266.1. NM_001324337.1. [Q9UQ13-1]
NP_031399.2. NM_007373.3. [Q9UQ13-1]
XP_016872191.1. XM_017016702.1. [Q9UQ13-1]
XP_016872192.1. XM_017016703.1. [Q9UQ13-1]
XP_016872193.1. XM_017016704.1. [Q9UQ13-1]
UniGeneiHs.104315.

Genome annotation databases

EnsembliENST00000265277; ENSP00000265277; ENSG00000108061. [Q9UQ13-2]
ENST00000369452; ENSP00000358464; ENSG00000108061. [Q9UQ13-1]
GeneIDi8036.
KEGGihsa:8036.
UCSCiuc001kzl.5. human. [Q9UQ13-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Protein Spotlight

The matchmaker - Issue 121 of September 2010

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF068920 mRNA. Translation: AAC39856.1.
AF054828 mRNA. Translation: AAC25698.1.
AB020669 mRNA. Translation: BAA74885.2. Different initiation.
AK090820 mRNA. Translation: BAG52235.1. Different initiation.
AK292833 mRNA. Translation: BAF85522.1.
AL158163 Genomic DNA. Translation: CAH72812.1.
AL158163 Genomic DNA. Translation: CAH72813.1. Sequence problems.
CH471066 Genomic DNA. Translation: EAW49548.1.
BC050445 mRNA. Translation: AAH50445.1.
CCDSiCCDS58095.1. [Q9UQ13-2]
CCDS7568.1. [Q9UQ13-1]
RefSeqiNP_001255968.1. NM_001269039.2. [Q9UQ13-2]
NP_001311265.1. NM_001324336.1. [Q9UQ13-1]
NP_001311266.1. NM_001324337.1. [Q9UQ13-1]
NP_031399.2. NM_007373.3. [Q9UQ13-1]
XP_016872191.1. XM_017016702.1. [Q9UQ13-1]
XP_016872192.1. XM_017016703.1. [Q9UQ13-1]
XP_016872193.1. XM_017016704.1. [Q9UQ13-1]
UniGeneiHs.104315.

3D structure databases

ProteinModelPortaliQ9UQ13.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113729. 13 interactors.
IntActiQ9UQ13. 7 interactors.
MINTiMINT-131517.
STRINGi9606.ENSP00000358464.

PTM databases

iPTMnetiQ9UQ13.
PhosphoSitePlusiQ9UQ13.

Polymorphism and mutation databases

BioMutaiSHOC2.
DMDMi14423936.

Proteomic databases

EPDiQ9UQ13.
PaxDbiQ9UQ13.
PeptideAtlasiQ9UQ13.
PRIDEiQ9UQ13.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265277; ENSP00000265277; ENSG00000108061. [Q9UQ13-2]
ENST00000369452; ENSP00000358464; ENSG00000108061. [Q9UQ13-1]
GeneIDi8036.
KEGGihsa:8036.
UCSCiuc001kzl.5. human. [Q9UQ13-1]

Organism-specific databases

CTDi8036.
DisGeNETi8036.
GeneCardsiSHOC2.
HGNCiHGNC:15454. SHOC2.
HPAiHPA009164.
MalaCardsiSHOC2.
MIMi602775. gene.
607721. phenotype.
neXtProtiNX_Q9UQ13.
OpenTargetsiENSG00000108061.
Orphaneti2701. Noonan syndrome-like disorder with loose anagen hair.
PharmGKBiPA37960.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129686.
HOGENOMiHOG000116557.
HOVERGENiHBG055661.
InParanoidiQ9UQ13.
KOiK19613.
OMAiEAPTLCF.
OrthoDBiEOG091G05NZ.
PhylomeDBiQ9UQ13.
TreeFamiTF315742.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000108061-MONOMER.
SignaLinkiQ9UQ13.
SIGNORiQ9UQ13.

Miscellaneous databases

ChiTaRSiSHOC2. human.
GeneWikiiSHOC2.
GenomeRNAii8036.
PROiQ9UQ13.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000108061.
CleanExiHS_SHOC2.
ExpressionAtlasiQ9UQ13. baseline and differential.
GenevisibleiQ9UQ13. HS.

Family and domain databases

Gene3Di3.80.10.10. 4 hits.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
[Graphical view]
PfamiPF13855. LRR_8. 4 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 16 hits.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 2 hits.
PROSITEiPS51450. LRR. 17 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSHOC2_HUMAN
AccessioniPrimary (citable) accession number: Q9UQ13
Secondary accession number(s): A8K9W8
, B3KR23, O76063, Q5VZS8, Q5VZS9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 20, 2001
Last sequence update: June 20, 2001
Last modified: November 2, 2016
This is version 152 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.