UniProt | Protein Name |
---|---|
E9PEX6 |
|
A0A024R713 |
|
P09622 |
|
GO Term | Evidence Code | PMID |
---|---|---|
proteolysis | ||
gastrulation | ||
regulation of membrane potential | ||
mitochondrial electron transport, NADH to ubiquinone | ||
sperm capacitation |
GO Term | Evidence Code | PMID |
---|---|---|
nucleus | ||
acrosomal matrix | ||
motile cilium | ||
acetyltransferase complex | ||
oxoglutarate dehydrogenase complex |
GO Term | Evidence Code | PMID |
---|---|---|
flavin adenine dinucleotide binding | ||
2-oxoisovalerate dehydrogenase (acylating) activity | ||
dihydrolipoyl dehydrogenase 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:10763 | hypertension | |
DOID:0014667 | disease of metabolism | |
DOID:0040085 | bacterial sepsis | |
DOID:0050424 | familial adenomatous polyposis | |
DOID:0050453 | lissencephaly | |
DOID:0050571 | congenital disorder of glycosylation type II | |
DOID:0050589 | inflammatory bowel disease | |
DOID:0050635 | alternating hemiplegia of childhood | |
DOID:0050700 | cardiomyopathy | |
DOID:0050753 | cerebellar ataxia |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000708 | Atypical behavior |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001252 | Hypotonia |
HP:0001254 | Lethargy |
HP:0001257 | Spasticity |
HP:0001263 | Global developmental delay |
HP:0001290 | Generalized hypotonia |
Disease ID | Disease Name |
---|---|
ORPHA:2394 |
|
OMIM:246900 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
178387 | WB:WBGene00010794 | ||
103189342 | CALMI41238 | ||
399479 | ZFIN:ZDB-GENE-040120-4 | DANRE27563 | |
103031703 | ASTMX05167 | ||
108275299 | ICTPU06338 | ||
113584051 | ELEEL33661 | ||
106561021 | SALSA51381 | ||
115192726 | SALTR30407 | ||
115197019 | SALTR12222 | ||
115550926 | GADMO62139 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024