UniProt | Protein Name |
---|---|
A0A384MDR8 |
|
P11177 |
|
GO Term | Evidence Code | PMID |
---|---|---|
glucose metabolic process | ||
acetyl-CoA biosynthetic process from pyruvate | ||
tricarboxylic acid cycle |
GO Term | Evidence Code | PMID |
---|---|---|
nucleus | ||
mitochondrial pyruvate dehydrogenase complex |
|
|
pyruvate dehydrogenase complex | ||
mitochondrial matrix | ||
mitochondrion |
GO Term | Evidence Code | PMID |
---|---|---|
pyruvate dehydrogenase (acetyl-transferring) activity | ||
pyruvate dehydrogenase (NAD+) activity | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050387 | nonpapillary renal cell carcinoma | |
DOID:0060548 | luminal breast carcinoma A | |
DOID:11847 | coronary thrombosis | |
DOID:1612 | breast cancer | |
DOID:1909 | melanoma | |
DOID:3112 | papillary adenocarcinoma | |
DOID:3459 | breast carcinoma | |
DOID:3649 | pyruvate decarboxylase deficiency | |
DOID:3650 | lactic acidosis | |
DOID:3651 | pyruvate carboxylase deficiency disease |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001265 | Hyporeflexia |
HP:0001274 | Agenesis of corpus callosum |
HP:0001290 | Generalized hypotonia |
HP:0001302 | Pachygyria |
HP:0001315 | Reduced tendon reflexes |
Disease ID | Disease Name |
---|---|
OMIM:614111 |
|
ORPHA:255138 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
177108 | WB:WBGene00015413 | ||
43437 | FB:FBgn0039635 | ||
102358148 | LATCH12349 | ||
406428 | ZFIN:ZDB-GENE-040426-2173 | DANRE22850 | |
103045256 | ASTMX14254 | ||
100528814 | ICTPU16693 | ||
115149949 | SALTR34358 | ||
115557480 | GADMO09364 | ||
100049362 | ORYLA20156 | ||
100705334 | ORENI59048 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024