OPLAH H870Pfs*92 [cytosol]

Stable Identifier
R-HSA-5603219
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
5-oxoprolinase, OPLA_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:O14841 OPLAH
Gene Names
OPLAH
Chain
chain:1-1288
Reference Genes
BioGPS Gene:26873 OPLAH
COSMIC (genes):OPLAH OPLAH
CTD Gene:26873 OPLAH
dbSNP Gene:26873 OPLAH
ENSEMBL:ENSG00000178814 OPLAH
ENSEMBL_homo_sapiens_GENE:ENSG00000178814.17 OPLAH
HGNC:8149 OPLAH
KEGG Gene (Homo sapiens):26873 OPLAH
Monarch:26873 OPLAH
NCBI Gene:26873 OPLAH
OMIM:614243 OPLAH
UCSC:O14841 OPLAH
Reference Transcript
Other Identifiers
11755485_a_at
17082453
222025_PM_s_at
222025_s_at
26873
3158061
3158062
3158064
3158066
3158067
3158068
3158069
3158071
3158072
3158073
3158075
3158076
3158077
3158079
3158080
3158081
3158082
3158083
3158084
3158085
3158086
3158089
3158091
3158092
3158093
3158094
3158095
3158096
3158097
3158098
3158099
34969_s_at
34970_r_at
74666_s_at
74668_r_at
8153625
A_23_P170186
GE56385
GO:0000166
GO:0003824
GO:0005515
GO:0005524
GO:0005737
GO:0005829
GO:0006575
GO:0006749
GO:0006790
GO:0016787
GO:0017168
GO:0042802
HMNXSV003039956
Hs.305882.0.S1_3p_s_at
ILMN_1711030
ILMN_1738539
PH_hs_0032590
TC08001740.hg
p33583
p33584
Participates
as a member of
Other forms of this molecule
OPLAH S323R [cytosol]
OPLAH V1089I [cytosol]
OPLAH [cytosol]
Modified Residues
Name
Replacement of residues 870 to 960 by PLHHAATGGCRLSVLQTCPGGRLPGGGGDGGPAGARQGPQLQRNQKPARQPVGPPCPGGSQPEGHPAGGGAHWAVRPGRGAGLHGPYSGKR
Disease
Name Identifier Synonyms
inherited metabolic disorder DOID:655 Metabolic hereditary disorder, Inborn Errors of Metabolism, inborn metabolism disorder
Cross References
RefSeq
OpenTargets
IntEnz
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
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