UniProt | Protein Name |
---|---|
A0A140VJX1 |
|
P24752 |
|
GO Term | Evidence Code | PMID |
---|---|---|
acetyl-CoA catabolic process | ||
propionyl-CoA biosynthetic process | ||
coenzyme A biosynthetic process | ||
metanephric proximal convoluted tubule development | ||
adipose tissue development |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
mitochondrial matrix |
|
|
mitochondrion | ||
extracellular exosome |
GO Term | Evidence Code | PMID |
---|---|---|
cholesterol O-acyltransferase activity | ||
enzyme binding | ||
potassium ion binding | ||
acetyl-CoA C-acetyltransferase activity | ||
coenzyme A 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:0040085 | bacterial sepsis | |
DOID:0050387 | nonpapillary renal cell carcinoma | |
DOID:0050589 | inflammatory bowel disease | |
DOID:0050657 | Bannayan-Riley-Ruvalcaba syndrome | |
DOID:0050726 | tyrosinemia type I | |
DOID:0060180 | colitis | |
DOID:0060189 | ileitis | |
DOID:0060190 | ileocolitis | |
DOID:0060192 | Crohn's colitis |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000713 | Agitation |
HP:0000741 | Apathy |
HP:0000822 | Hypertension |
HP:0000969 | Edema |
HP:0000980 | Pallor |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001252 | Hypotonia |
Disease ID | Disease Name |
---|---|
ORPHA:134 |
|
OMIM:203750 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
113449889 | PSETE23786 | ||
103827296 | SERCA01497 | ||
100077367 | ORNAN13589 | ||
100925426 | SARHA15952 | ||
100389935 | CALJA05475 | ||
100401659 | CALJA05475 | ||
105588733 | CERAT19426 | ||
102134087 | MACFA10272 | ||
105493658 | MACNE06058 | ||
101019371 | PAPAN06307 |
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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