UniProt | Protein Name |
---|---|
Q9C0K1 |
|
GO Term | Evidence Code | PMID |
---|---|---|
DNA-templated transcription | ||
regulation of DNA-templated transcription | ||
iron ion import across plasma membrane | ||
bicarbonate transport | ||
zinc ion transmembrane transport |
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:0060250 | idiopathic scoliosis | |
DOID:0060480 | left ventricular noncompaction | |
DOID:0060891 | Parkinson's disease 19A | |
DOID:0060895 | Parkinson's disease 4 | |
DOID:0060896 | Parkinson's disease 23 | |
DOID:0070266 | congenital disorder of glycosylation type IIn | |
DOID:0080199 | colorectal carcinoma | |
DOID:0080561 | congenital disorder of glycosylation Ii | |
DOID:0080566 | congenital disorder of glycosylation In | |
DOID:0090103 | Huntington's disease-like 1 |
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