UniProt | Protein Name |
---|---|
P29803 |
|
GO Term | Evidence Code | PMID |
---|---|---|
glucose metabolic process | ||
pyruvate metabolic process | ||
acetyl-CoA biosynthetic process from pyruvate | ||
tricarboxylic acid cycle |
GO Term | Evidence Code | PMID |
---|---|---|
nucleus | ||
mitochondrial pyruvate dehydrogenase complex |
|
|
mitochondrial matrix | ||
mitochondrion | ||
nucleolus |
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:0014667 | disease of metabolism | |
DOID:0070188 | spermatogenic failure 1 | |
DOID:0111910 | spermatogenic failure | |
DOID:12336 | male infertility | |
DOID:13515 | tuberous sclerosis | |
DOID:14227 | azoospermia | |
DOID:14323 | Marfan syndrome | |
DOID:3649 | pyruvate decarboxylase deficiency | |
DOID:3651 | pyruvate carboxylase deficiency disease | |
DOID:758 | situs inversus |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000027 | Azoospermia |
HP:0000118 | Phenotypic abnormality |
HP:0000798 | Oligozoospermia |
HP:0000837 | Increased circulating gonadotropin level |
HP:0003251 | Male infertility |
HP:0008669 | Abnormal spermatogenesis |
HP:0008734 | Decreased testicular size |
HP:0011462 | Young adult onset |
HP:0011961 | Non-obstructive azoospermia |
Disease ID | Disease Name |
---|---|
ORPHA:399805 |
|
OMIM:619828 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
3565996 | WB:WBGene00011510 | ||
31406 | FB:FBgn0028325 | ||
31407 | FB:FBgn0029722 | ||
100184477 | CIOIN03141 | ||
406702 | ZFIN:ZDB-GENE-040426-2719 | ||
436672 | ZFIN:ZDB-GENE-040718-96 | ||
549826 | Xenbase:XB-GENE-952669 | ||
100403644 | CALJA28540 | ||
105572362 | CERAT40028 | ||
102140136 | MACFA34275 |
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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