GSS P314L [cytosol]

Stable Identifier
R-HSA-5602981
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Glutathione synthase
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:P48637 GSS
Gene Names
GSS
Chain
initiator methionine:1, 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: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
Other forms of this molecule
GSS R125C [cytosol]
GSS [cytosol]
GSS R283C [cytosol]
GSS R164Q [cytosol]
GSS R267W [cytosol]
Modified Residues
Name
L-proline 314 replaced with L-leucine
Coordinate
314
PsiMod
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
L-proline removal [MOD:01645]
A protein modification that effectively removes or replaces an L-proline.
Disease
Name Identifier Synonyms
inherited metabolic disorder DOID:655 Metabolic hereditary disorder, Inborn Errors of Metabolism, inborn metabolism disorder
Cross References
RefSeq
OpenTargets
IntEnz
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
HMDB Protein
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