| Accession: |
UG_GRCh38-4ONHoWUlMtZbZBujcekjA
|
||
|---|---|---|---|
| Description: | ethylmalonic encephalopathy 1 [Source:HGNC Symbol;Acc:HGNC:23287] | ||
| Name(s) | ETHE1, HSCO, YF13H12 | ||
| Other IDs: | |||
| Tax ID | Position | Strand | Biotype(s) |
| 9606 |
19:43506719-43527244
|
- | protein_coding |
Expressed in: Adipose, Adrenal, Bladder, Brain, Breast, Colon, Epithelial Cells, Heart, HEK-293 Cells, HEK-293F Cells, HEK-293T Cells, HK-2 Cells, Kidney, Kidney Cortex, Kidney Tubules, Liver, Lung, Muscle, Nephron Progenitor Cells, Nephrons, Ovary, Placenta, Proximal Tubule, Testis Enriched in: Colon, Epithelial Cells, HK-2 Cells, Kidney, Kidney Cortex, Lung, Placenta Specific to: None |
| Parents | |||
|---|---|---|---|
| None |
| Children | ||||
|---|---|---|---|---|
| Accession | Name | Sequence Type | Position | Assembly |
| UT_GRCh381F75tb2fUM9xGblTxxu0qw | ETHE1-001 | transcript | 19:43506719-43527244 (-) | GRCh38 |
| UT_GRCh38EzgTquExkVSB_kNcVy8nIg | ETHE1-005 | transcript | 19:43507637-43527222 (-) | GRCh38 |
| UT_GRCh38KET7oYSfJb3feOfg4uftHg | ETHE1-003 | transcript | 19:43526201-43527230 (-) | GRCh38 |
| UT_GRCh38leKb8HcfA18osR3W9I1vOg | ETHE1-004 | transcript | 19:43507628-43527201 (-) | GRCh38 |
| UT_GRCh38m2bY9KLvp7ZLlz9mkBGf4w | ETHE1-002 | transcript | 19:43506792-43527205 (-) | GRCh38 |
| UT_GRCh38ros5bxxV9DI8Lzk_-G954w | ETHE1-006 | transcript | 19:43511469-43527192 (-) | GRCh38 |
Expression Patterns
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|
Gene Ontology |
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|---|---|---|---|
| GO ID | Domain | Evidence Type | GO Description |
| GO:0000096 | biological_process | TAS | sulfur amino acid metabolic proc |
| GO:0000098 | biological_process | TAS | sulfur amino acid catabolic proc |
| GO:0005506 | molecular_function | IDA | iron ion binding |
| GO:0005654 | cellular_component | IDA | nucleoplasm |
| GO:0005737 | cellular_component | IDA | cytoplasm |
| GO:0005739 | cellular_component | IDA | mitochondrion |
| GO:0005759 | cellular_component | TAS | mitochondrial matrix |
| GO:0006749 | biological_process | IDA | glutathione metabolic process |
| GO:0034641 | biological_process | TAS | cellular nitrogen compound metab |
| GO:0044281 | biological_process | TAS | small molecule metabolic process |
| GO:0050313 | molecular_function | IDA | sulfur dioxygenase activity |
| GO:0050313 | molecular_function | TAS | sulfur dioxygenase activity |
| GO:0070221 | biological_process | TAS | sulfide oxidation, using sulfide |
| GO:0070813 | biological_process | IDA | hydrogen sulfide metabolic proce |
Homologs |
|||||
| Accession | Description | Species | Homolog Type | ||
| UG_GRCm38-hO9GIOZSzHf2yYflJNrjw | Ethe1 | 10090 | ortholog_one2one | ||
| UG_GRCz10uL3b5zrxam8dij_J0jyd3Q | ethe1 | 7955 | ortholog_one2one | ||