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GGT1(381-569) D423E [plasma membrane]
Stable Identifier
R-HSA-5602862
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
GGT1 light chain, GGT1lc, Gamma-glutamyltranspeptidase 1, GGT1_HUMAN, GGT1
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective GGT1 causes GLUTH (Homo sapiens)
Defective GGT1 does not hydrolyse GSH (Homo sapiens)
GGT1 mutants [plasma membrane] (Homo sapiens)
GGT1(381-569) D423E [plasma membrane] (Homo sapiens)
Defective GGT1 in aflatoxin detoxification causes GLUTH (Homo sapiens)
Defective GGT1 does not hydrolyse glutamate from AFXBO-SG, AFNBO-SG (Homo sapiens)
GGT1 mutants [plasma membrane] (Homo sapiens)
GGT1(381-569) D423E [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:P19440 GGT1
Gene Names
GGT1, GGT
Chain
chain:1-380, chain:381-569
Reference Genes
COSMIC (genes):GGT1 P194403
dbSNP Gene:2678 P194403
ENSEMBL:ENSG00000100031 GGT1
Participates
as a member of
GGT1 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
GGT1(381-569) S452A [plasma membrane]
GGT1(1-380) R107H [plasma membrane]
GGT1(381-569) S451A [plasma membrane]
GGT1(1-380) R107Q [plasma membrane]
GGT1(381-569) D423A [plasma membrane]
GGT1(381-569) [plasma membrane]
GGT1(1-380) [plasma membrane]
Modified Residues
Name
L-aspartic acid 423 replaced with L-glutamic acid
Coordinate
423
PsiMod
L-aspartic acid removal [MOD:01634]
A protein modification that effectively removes or replaces an L-aspartic acid.
L-glutamic acid residue [MOD:00015]
A protein modification that effectively converts a source amino acid residue to an L-glutamic acid.
Disease
Name
Identifier
Synonyms
inherited metabolic disorder
DOID:655
Metabolic hereditary disorder, Inborn Errors of Metabolism, inborn metabolism disorder
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