Reactome | SHOC2 M173I [cytosol]

SHOC2 M173I [cytosol]

Stable Identifier

R-HSA-9660486

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

Leucine-rich repeat protein SHOC-2, SHOC2_HUMAN

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Disease (Homo sapiens)

- Diseases of signal transduction by growth factor receptors and second messengers (Homo sapiens)
  - Oncogenic MAPK signaling (Homo sapiens)
    - Signaling by MRAS-complex mutants (Homo sapiens)
      - SHOC2 M1731 mutant abolishes MRAS complex function (Homo sapiens)
        
        SHOC2 M173I disrupts the SHOC2:MRAS:PP1 complex (Homo sapiens)
        
        SHOC2 M173I:MRAS:PP1 [plasma membrane] (Homo sapiens)
        
        SHOC2 M173I [cytosol] (Homo sapiens)

External Reference Information

External Reference

UniProt:Q9UQ13 SHOC2

Gene Names

SHOC2, KIAA0862

Chain

chain:1-582

Reference Genes

BioGPS Gene:8036 SHOC2

COSMIC (genes):SHOC2 SHOC2

CTD Gene:8036 SHOC2

dbSNP Gene:8036 SHOC2

ENSEMBL:ENSG00000108061 SHOC2

HGNC:15454 SHOC2

KEGG:hsa:8036 SHOC2

Monarch:8036 SHOC2

NCBI Gene:8036 SHOC2

OMIM:602775 SHOC2

UCSC:Q9UQ13 SHOC2

Reference Transcript

Other Identifiers

11724482_x_at

11724483_s_at

16709223

16709239

16709242

202777_PM_at

202777_at

3264005

3264006

3264007

3264010

3264011

3264012

3264013

3264014

3264015

3264016

3264017

3264018

3264020

3264022

3264023

3264024

3264025

3264026

3264030

3264031

3264032

3264033

3264034

3264035

3264036

3264037

3264038

3264039

3264040

3264042

3264044

3264046

3264048

3264050

38659_at

43109_r_at

7930470

8036

A_14_P108938

A_14_P116638

A_19_P00801459

A_21_P0007078

A_23_P202565

GE53546

GE723777

GO:0000164

GO:0005515

GO:0005634

GO:0005654

GO:0005737

GO:0005829

GO:0007165

GO:0007265

GO:0008157

GO:0008543

GO:0010976

GO:0019888

GO:0019903

GO:0038180

GO:0043226

GO:0045665

GO:0045666

GO:0046579

GO:0055085

GO:0071378

GO:0098772

GO:0140361

GO:2000178

HMNXSV003002948

HMNXSV003006193

ILMN_2158242

PH_hs_0005786

TC10000809.hg

TC10002288.hg

TC10002289.hg

g6677944_3p_at

p18209

Participates

as a component of

SHOC2 M173I:MRAS:PP1 [plasma membrane] (Homo sapiens)

Other forms of this molecule

SHOC2 [cytosol]

SHOC2 Q269_H270delinsHY [cytosol]

SHOC2 S2G [cytosol]

Modified Residues

Name

L-methionine 173 replaced with L-isoleucine

Coordinate

173

PsiMod

L-methionine removal [MOD:01643]

A protein modification that effectively removes or replaces an L-methionine.

L-isoleucine residue [MOD:00019]

A protein modification that effectively converts a source amino acid residue to an L-isoleucine.

Disease

Name	Identifier	Synonyms
Noonan syndrome	DOID:3490	Turner's phenotype, karyotype normal (disorder)

Cross References

ClinGen

CA378385809, CA378385803, CA199174

OpenTargets

ENSG00000108061

ENSEMBL

ENST00000265277, ENSG00000108061, ENST00000685059, ENST00000689300, ENSP00000510639, ENST00000369452, ENSP00000265277, ENSP00000509686, ENSP00000509273, ENST00000689118, ENSP00000509754, ENSP00000358464, ENSP00000510210, ENSP00000510554, ENST00000691369, ENST00000688928, ENST00000691441

HPA

ENSG00000108061-SHOC2

GeneCards

SHOC2

PRO

Q9UQ13

Pharos - Targets

Q9UQ13

Orphanet

SHOC2

GlyGen

Q9UQ13

PDB

7TXH, 7TVF, 7TVG, 7UPI, 7T7A, 7SD1, 7TYG, 7SD0

Interactors (3)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q96RT1 ERBIN	1	ERBIN [plasma membrane] (R-HSA-1358718)	0.623	4
UniProt:P62136 PPP1CA	1	PPP1CA [cytosol] (R-HSA-163525)	0.527	2
UniProt:P36873 PPP1CC	1	PPP1CC [cytosol] (R-HSA-163443)	0.527	3