Reactome | GSS R164Q [cytosol]

GSS R164Q [cytosol]

Stable Identifier

R-HSA-5602959

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

Glutathione synthase

Locations in the PathwayBrowser

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Disease (Homo sapiens)

- Diseases of metabolism (Homo sapiens)
  - Metabolic disorders of biological oxidation enzymes (Homo sapiens)
    - Defective GSS causes GSS deficiency (Homo sapiens)
      - Defective GSS does not synthesize GSH (Homo sapiens)
        
        GSS mutants:GSS mutants:Mg2+:Mg2+ [cytosol] (Homo sapiens)
        
        GSS mutants [cytosol] (Homo sapiens)
        
        GSS R164Q [cytosol] (Homo sapiens)

External Reference Information

External Reference

UniProt:P48637 GSS

Gene Names

GSS

Chain

initiator methionine:, chain:2-474

Reference Genes

BioGPS Gene:2937 GSS

COSMIC (genes):GSS GSS

CTD Gene:2937 GSS

dbSNP Gene:2937 GSS

ENSEMBL:ENSG00000100983 GSS

ENSEMBL_homo_sapiens_GENE:ENSG00000100983.12 GSS

HGNC:4624 GSS

KEGG Gene (Homo sapiens):2937 GSS

Monarch:2937 GSS

NCBI Gene:2937 GSS

OMIM:601002 GSS

UCSC:P48637 GSS

Reference Transcript

Other Identifiers

11715923_a_at

11746330_a_at

16918589

201415_PM_at

201415_at

211630_PM_s_at

211630_s_at

2937

38386_r_at

3903669

3903671

3903672

3903675

3903678

3903680

3903681

3903682

3903683

3903685

3903686

3903689

3903690

3903691

3903695

3903696

3903697

74726_at

8065817

A_23_P210920

GE59100

GO:0000166

GO:0000287

GO:0003824

GO:0004363

GO:0005515

GO:0005524

GO:0005576

GO:0005615

GO:0005829

GO:0006520

GO:0006575

GO:0006750

GO:0006790

GO:0006979

GO:0007399

GO:0016874

GO:0042802

GO:0042803

GO:0043226

GO:0043295

GO:0046686

GO:0046872

GO:0048856

GO:0070062

GO:1901564

HMNXSV003047596

ILMN_1683462

PH_hs_0004715

TC20000789.hg

U34683_at

g4504168_3p_at

g886283_3p_s_at

Participates

as a member of

GSS mutants [cytosol] (Homo sapiens)

Other forms of this molecule

GSS R125C [cytosol]

GSS [cytosol]

GSS P314L [cytosol]

GSS R283C [cytosol]

GSS R267W [cytosol]

Modified Residues

Name

L-arginine 164 replaced with L-glutamine

Coordinate

164

PsiMod

L-arginine removal [MOD:01632]

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

L-glutamine residue [MOD:00016]

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

Disease

Name	Identifier	Synonyms
inherited metabolic disorder	DOID:655	Metabolic hereditary disorder, Inborn Errors of Metabolism, inborn metabolism disorder

Cross References

RefSeq

NP_001309423.1, NP_000169.1, NP_001309424.1

OpenTargets

ENSG00000100983

IntEnz

6.3.2.3

GeneCards

P48637

HPA

ENSG00000100983-GSS

Ensembl

ENSG00000100983, ENSP00000493903, ENST00000451957, ENSP00000495750, ENST00000644793, ENST00000643188, ENSP00000407517, ENSP00000498303, ENST00000646735, ENSP00000493763, ENST00000651619

PRO

P48637

Pharos - Targets

P48637

Orphanet

16172

HMDB Protein

HMDBP00791

PDB

2HGS

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