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GGT1(381-569) S452A [plasma membrane]
Stable Identifier
R-HSA-5602938
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) S452A [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) S452A [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
BioGPS Gene:2678 P194403
COSMIC (genes):GGT1 GGT1
CTD Gene:2678 P194403
dbSNP Gene:2678 P194403
ENSEMBL:ENSG00000100031 GGT1
HGNC:4250 P194403
KEGG:hsa:2678 P194403
Monarch:2678 P194403
NCBI Gene:2678 P194403
OMIM:612346 P194403
UCSC:P19440 P194403
Reference Transcript
RefSeq:NM_013430.2 P194403
RefSeq:NM_001288833.1 P194403
RefSeq:NM_013421.2 P194403
Participates
as a member of
GGT1 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
GGT1(1-380) [plasma membrane]
GGT1(381-569) [plasma membrane]
GGT1(381-569) D423A [plasma membrane]
GGT1(1-380) R107Q [plasma membrane]
GGT1(381-569) S451A [plasma membrane]
GGT1(1-380) R107H [plasma membrane]
GGT1(381-569) D423E [plasma membrane]
Modified Residues
Name
L-serine 452 replaced with L-alanine
Coordinate
452
PsiMod
L-alanine residue [MOD:00010]
A protein modification that effectively converts a source amino acid residue to an L-alanine.
L-serine removal [MOD:01646]
A protein modification that effectively removes or replaces an L-serine.
Disease
Name
Identifier
Synonyms
inherited metabolic disorder
DOID:655
Metabolic hereditary disorder, Inborn Errors of Metabolism, inborn metabolism disorder
Cross References
OpenTargets
ENSG00000286070
,
ENSG00000100031
ENSEMBL
ENSP00000384820
,
ENSP00000385445
,
ENSP00000383232
,
ENSP00000383231
,
ENSG00000100031
,
ENSP00000384381
,
ENST00000403838
,
ENST00000401885
,
ENSP00000387499
,
ENST00000400382
,
ENST00000404532
,
ENST00000400380
,
ENST00000425895
HPA
ENSG00000100031-GGT1
GeneCards
GGT1
ZINC - Substances
GGT1_HUMAN
ZINC target
P19440
PRO
P19440
Pharos - Targets
P19440
Orphanet
GGT1
HMDB Protein
HMDBP00730
PDB
4GDX
,
4Z9O
,
4ZCG
,
4GG2
,
4ZBK
,
5V4Q
,
4ZC6
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