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GCLC P185L [cytosol]
Stable Identifier
R-HSA-5602975
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Glutamate--cysteine ligase heavy chain, gamma-glutamylcysteine heavy chain
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective GCLC causes HAGGSD (Homo sapiens)
Defective GCLC does not ligate L-Glu to L-Cys (Homo sapiens)
GCLC mutants:GCLM [cytosol] (Homo sapiens)
GCLC mutants [cytosol] (Homo sapiens)
GCLC P185L [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:P48506 GCLC
Gene Names
GCLC, GLCL, GLCLC
Chain
chain:1-637
Reference Genes
BioGPS Gene:2729 GCLC
COSMIC (genes):GCLC GCLC
CTD Gene:2729 GCLC
dbSNP Gene:2729 GCLC
ENSEMBL:ENSG00000001084.13 GCLC
HGNC:4311 GCLC
KEGG Gene (Homo sapiens):2729 GCLC
Monarch:2729 GCLC
NCBI Gene:2729 GCLC
OMIM:606857 GCLC
UCSC:P48506 GCLC
Reference Transcript
RefSeq:NM_001197115.1 GCLC
RefSeq:NM_001498.3 GCLC
Other Identifiers
0001990066
11729218_a_at
11750770_a_at
11754931_a_at
202922_PM_at
202922_at
202923_PM_s_at
202923_s_at
2729
2957706
2957707
2957708
2957709
2957710
2957712
2957714
2957715
2957717
2957722
2957724
2957725
2957727
2957730
2957732
2957737
2957738
2957741
2957742
2957750
2957751
2957752
2957767
2957768
2957769
31850_at
49163_at
52591_s_at
52592_r_at
56626_r_at
8127158
A_23_P145114
GE58133
GO:0000166
GO:0000287
GO:0003013
GO:0003824
GO:0004357
GO:0005515
GO:0005524
GO:0005622
GO:0005737
GO:0005739
GO:0005829
GO:0005975
GO:0006351
GO:0006355
GO:0006520
GO:0006534
GO:0006536
GO:0006575
GO:0006749
GO:0006750
GO:0006766
GO:0006790
GO:0006979
GO:0007005
GO:0007568
GO:0007584
GO:0009408
GO:0009410
GO:0009725
GO:0012501
GO:0014823
GO:0016595
GO:0016874
GO:0017109
GO:0019852
GO:0023052
GO:0030163
GO:0031397
GO:0032436
GO:0032869
GO:0032991
GO:0035729
GO:0036211
GO:0043066
GO:0043226
GO:0043524
GO:0043531
GO:0044344
GO:0044752
GO:0044877
GO:0045454
GO:0045892
GO:0046685
GO:0046686
GO:0051409
GO:0051900
GO:0061024
GO:0070555
GO:0071260
GO:0071333
GO:0071372
GO:0097069
GO:0097746
GO:1901029
GO:2000490
GO:2001237
HMNXSV003053412
Hs.151393.0.S2_3p_at
ILMN_1730575
ILMN_2215194
M90656_at
TC06004051.hg
g4557624_3p_a_at
Participates
as a member of
GCLC mutants [cytosol] (Homo sapiens)
Other forms of this molecule
GCLC H370L [cytosol]
GCLC R127C [cytosol]
GCLC [cytosol]
Modified Residues
Name
L-proline 158 replaced with L-leucine
Coordinate
158
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
hemolytic anemia
DOID:583
Hemolytic anemias (disorder), Hemolytic anemia (disorder), Hemolytic anemias NOS (disorder), hemolytic anemia, ANEMIA HEMOLYTIC
Cross References
RefSeq
NP_001489.1
,
NP_001184044.1
OpenTargets
ENSG00000001084
ZINC - Substances
GSH1_HUMAN
GeneCards
P48506
HPA
ENSG00000001084-GCLC
Ensembl
ENSG00000001084
,
ENST00000650454
,
ENSP00000497574
ZINC target
P48506
PRO
P48506
Pharos - Targets
P48506
Orphanet
16111
ZINC - Predictions - Purchasable
GSH1_HUMAN
HMDB Protein
HMDBP00512
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P48507 GCLM
1
GCLM [cytosol]
(R-HSA-174356)
0.59
2
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