|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
P00390 |
| Protein name |
Glutathione reductase, mitochondrial (GR) (GRase) (EC 1.8.1.7) |
| Protein function |
Catalyzes the reduction of glutathione disulfide (GSSG) to reduced glutathione (GSH). Constitutes the major mechanism to maintain a high GSH:GSSG ratio in the cytosol. |
| PDB |
1ALG
, 1BWC
, 1DNC
, 1GRA
, 1GRB
, 1GRE
, 1GRF
, 1GRG
, 1GRH
, 1GRT
, 1GSN
, 1K4Q
, 1XAN
, 2AAQ
, 2GH5
, 2GRT
, 3DJG
, 3DJJ
, 3DK4
, 3DK8
, 3DK9
, 3GRS
, 3GRT
, 3SQP
, 4GR1
, 4GRT
, 5GRT
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00070 |
Pyr_redox |
233 → 312 |
|
Domain |
| PF02852 |
Pyr_redox_dim |
411 → 522 |
Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain |
Domain |
|
| Sequence |
|
| Sequence length |
522 |
| Interactions |
View interactions |
|
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Cholangiocarcinoma |
Benign |
rs74518074 |
RCV005869545 |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Conflicting classifications of pathogenicity |
rs8190972 |
RCV005930121 |
| Clear cell carcinoma of kidney |
Benign; Likely benign |
rs74518074 |
RCV005871071 |
| Familial cancer of breast |
Benign; Likely benign |
rs147119692, rs28641651, rs74518074 |
RCV005926486 RCV005900795 RCV005869541 |
| Gastric cancer |
Likely benign; Benign |
rs74518074 |
RCV005871428 RCV005869543 RCV005871073 |
| GSR-related disorder |
Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs371587793, rs138286932, rs775171438, rs150594097, rs74518074, rs985858885, rs145834648, rs28641651, rs8190996, rs368833049, rs75673983, rs144194626, rs147119692, rs8191005, rs8190976, rs2280855, rs112134304 View all (2 more) |
RCV003943784 RCV003916641 RCV003943682 RCV003395628 RCV003977404 RCV003961727 RCV003981224 RCV003919449 RCV003927028 RCV003922698 RCV003983100 RCV003943024 RCV003933272 RCV003926024 RCV003910713 RCV003936271 RCV003936272 RCV003973019 RCV003931344 |
| Malignant lymphoma, large B-cell, diffuse |
Benign; Likely benign |
rs74518074 |
RCV005869542 RCV005871072 |
| Malignant tumor of esophagus |
Conflicting classifications of pathogenicity |
rs8190972 |
RCV005930119 |
| Nonpapillary renal cell carcinoma |
Conflicting classifications of pathogenicity |
rs8190972 |
RCV005930120 |
| Thymoma |
Uncertain significance |
rs755578957 |
RCV005912930 |
| Thyroid cancer, nonmedullary, 1 |
Uncertain significance |
rs8190997 |
RCV005927062 |
| Uterine carcinosarcoma |
Benign |
rs74518074 |
RCV005869544 |
| Uterine corpus endometrial carcinoma |
Likely benign; Benign |
rs74518074, rs28641651 |
RCV005871429 RCV005871370 RCV005900796 RCV005869546 |
|
|
|