Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Content
Table of Contents
DOIs
Data Schema
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Computationally inferred events
Linking to Us
Citing us
Tools
Pathway Browser
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Overlays
DisGeNET
Web
API
Advanced Data Search
Site Search
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Papers Citing Us
Resources Guide
Collaboration
Download
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Content
Table of Contents
DOIs
Data Schema
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Computationally inferred events
Linking to Us
Citing us
Tools
Pathway Browser
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Overlays
DisGeNET
Web
API
Advanced Data Search
Site Search
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Papers Citing Us
Resources Guide
Collaboration
Download
Search ...
Go!
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 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (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 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_001498.3 GCLC
RefSeq:NM_001197115.1 GCLC
Other Identifiers
0001990066
11729218_a_at
11750770_a_at
11754931_a_at
202922_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:0003674
GO:0003824
GO:0004357
GO:0005515
GO:0005524
GO:0005575
GO:0005622
GO:0005737
GO:0005739
GO:0005829
GO:0005975
GO:0006464
GO:0006520
GO:0006534
GO:0006536
GO:0006749
GO:0006750
GO:0006790
GO:0006810
GO:0006950
GO:0006979
GO:0007005
GO:0007165
GO:0007568
GO:0007584
GO:0008150
GO:0008219
GO:0009056
GO:0009058
GO:0009408
GO:0009410
GO:0009725
GO:0014823
GO:0016595
GO:0016874
GO:0017109
GO:0019852
GO:0031397
GO:0032436
GO:0032869
GO:0032991
GO:0034641
GO:0035729
GO:0042592
GO:0043066
GO:0043167
GO:0043226
GO:0043524
GO:0043531
GO:0044281
GO:0044344
GO:0044752
GO:0044877
GO:0045454
GO:0045892
GO:0046685
GO:0046686
GO:0051186
GO:0051409
GO:0051900
GO:0061024
GO:0070555
GO:0071260
GO:0071333
GO:0071372
GO:0097069
GO:0097746
GO:1901029
GO:2000490
GO:2001237
Hs.151393.0.S2_3p_at
ILMN_1730575
ILMN_2215194
M90656_at
TC06004051.hg
g4557624_3p_a_at
Participant Of
hasMember
GCLC mutants [cytosol]
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-proline removal [MOD:01645]
A protein modification that effectively removes or replaces an L-proline.
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
Disease
Name
Identifier
Synonyms
hemolytic anemia
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
HPA
ENSG00000001084-GCLC
GeneCards
P48506
ZINC - Substances
GSH1_HUMAN
ZINC target
P48506
Ensembl
ENSP00000497574
,
ENSG00000001084
,
ENST00000650454
PRO
P48506
ZINC - Predictions - Purchasable
GSH1_HUMAN
Orphanet
16111
HMDB Protein
HMDBP00512
© 2021
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text