InnateDB Protein
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IDBP-480979.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GCLC
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Protein Name
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glutamate-cysteine ligase, catalytic subunit
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Synonyms
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GCL; GCS; GLCL; GLCLC;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000421908
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InnateDB Gene
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IDBG-91041 (GCLC)
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Protein Structure
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Function |
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Subcellular Localization |
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Disease Associations |
Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) [MIM:230450]: A disease characterized by hemolytic anemia, glutathione deficiency, myopathy, late-onset spinocerebellar degeneration, and peripheral neuropathy. {ECO:0000269PubMed:10515893, ECO:0000269PubMed:10733484, ECO:0000269PubMed:12663448}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
15
[view]
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Protein-Protein |
7
[view]
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Protein-DNA |
7
[view]
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Protein-RNA |
1
[view]
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P48506
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PhosphoSite |
PhosphoSite-P48506
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TrEMBL |
D6R959
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UniProt Splice Variant |
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Entrez Gene |
2729
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UniGene |
Hs.654465
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RefSeq |
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HUGO |
HGNC:4311
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OMIM |
606857
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CCDS |
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HPRD |
06032
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IMGT |
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EMBL |
AF118846
AL033397
AY780794
BC022487
BC039894
L39773
M90656
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GenPept |
AAA58499
AAC41751
AAD18031
AAH22487
AAH39894
AAV31778
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