InnateDB Protein
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IDBP-69126.6
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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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GSS
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Protein Name
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glutathione synthetase
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Synonyms
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GSHS; HEL-S-64p; HEL-S-88n;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000216951
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InnateDB Gene
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IDBG-69124 (GSS)
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Protein Structure
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Function |
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Subcellular Localization |
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Disease Associations |
Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]: Severe form characterized by an increased rate of hemolysis and defective function of the central nervous system. {ECO:0000269PubMed:8896573, ECO:0000269PubMed:9215686}. Note=The disease is caused by mutations affecting the gene represented in this entry.Glutathione synthetase deficiency of erythrocytes (GLUSYNDE) [MIM:231900]: Mild form causing hemolytic anemia. 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 30 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
30
[view]
|
Protein-Protein |
28
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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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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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 |
IPR004887
Glutathione synthase, substrate-binding, eukaryotic
IPR005615
Glutathione synthase, eukaryotic
IPR016185
Pre-ATP-grasp domain
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PFAM |
PF03199
PF03917
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PRINTS |
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PIRSF |
PIRSF001558
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P48637
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PhosphoSite |
PhosphoSite-P48637
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TrEMBL |
V9HWJ1
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UniProt Splice Variant |
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Entrez Gene |
2937
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UniGene |
Hs.82327
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RefSeq |
NP_000169
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HUGO |
HGNC:4624
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OMIM |
601002
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CCDS |
CCDS13245
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HPRD |
03000
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IMGT |
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EMBL |
AB459500
AK293144
AK298292
AK312492
AL133324
BC007927
CH471077
DQ074975
EU668322
EU794618
L42531
U34683
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GenPept |
AAA69492
AAB62390
AAH07927
AAY57328
ACF94475
ACJ13672
BAG35394
BAG75452
BAH11461
BAH12750
CAB93423
EAW76239
EAW76240
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