UniProt | Protein Name |
---|---|
Q9C0K1 |
|
GO Term | Evidence Code | PMID |
---|---|---|
regulation of membrane potential | ||
cartilage homeostasis | ||
cadmium ion transmembrane transport | ||
extracellular matrix organization | ||
negative regulation of canonical NF-kappaB signal transduction |
GO Term | Evidence Code | PMID |
---|---|---|
plasma membrane | ||
lysosomal membrane | ||
apical plasma membrane | ||
organelle membrane | ||
basolateral plasma membrane |
GO Term | Evidence Code | PMID |
---|---|---|
monoatomic cation:bicarbonate symporter activity | ||
zinc:bicarbonate symporter activity | ||
zinc ion transmembrane transporter activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:11782 | astigmatism | |
DOID:11801 | protein-energy malnutrition | |
DOID:11832 | visual epilepsy | |
DOID:12328 | marasmus | |
DOID:1240 | leukemia | |
DOID:12858 | Huntington's disease | |
DOID:13174 | dissociated nystagmus | |
DOID:13579 | kwashiorkor | |
DOID:14330 | Parkinson's disease | |
DOID:1574 | alcohol use disorder |
HPO ID | HPO Term |
---|---|
HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex |
HP:0002987 | Elbow flexion contracture |
HP:0003577 | Congenital onset |
HP:0004322 | Short stature |
HP:0006380 | Knee flexion contracture |
HP:0006558 | Decreased mitochondrial complex III activity in liver tissue |
HP:0006829 | Severe muscular hypotonia |
HP:0006855 | Cerebellar vermis atrophy |
HP:0008277 | Abnormal blood zinc concentration |
HP:0008314 | Decreased activity of mitochondrial complex II |
Disease ID | Disease Name |
---|---|
ORPHA:468699 |
|
OMIM:616721 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
179576 | WB:WBGene00006486 | ||
190312 | WB:WBGene00021936 | ||
103177624 | CALMI13419 | ||
100002893 | ZFIN:ZDB-GENE-050419-124 | ||
103035991 | ASTMX18111 | ||
108263549 | ICTPU27143 | ||
108277197 | ICTPU25300 | ||
105015842 | ESOLU44831 | ||
115161838 | SALTR56635 | ||
103458197 | POERE19436 |
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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