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:0040085 | bacterial sepsis | |
DOID:0050570 | congenital disorder of glycosylation type I | |
DOID:0050589 | inflammatory bowel disease | |
DOID:0050635 | alternating hemiplegia of childhood | |
DOID:0050741 | alcohol dependence | |
DOID:0050742 | nicotine dependence | |
DOID:0050835 | generalized dystonia | |
DOID:0050841 | focal hand dystonia | |
DOID:0060192 | Crohn's colitis | |
DOID:0060224 | atrial fibrillation |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000365 | Hearing impairment |
HP:0000369 | Low-set ears |
HP:0000483 | Astigmatism |
HP:0000486 | Strabismus |
HP:0000540 | Hypermetropia |
HP:0000639 | Nystagmus |
HP:0000938 | Osteopenia |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
Disease ID | Disease Name |
---|---|
ORPHA:468699 |
|
OMIM:616721 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
113894082 | BOBOX03910 | ||
100950746 | OTOGA06480 | ||
101069036 | TAKRU35962 | ||
102019081 | CHILA20398 | ||
105706301 | AOTNA12133 | ||
108432418 | PYGNA15686 | ||
103150062 | POEFO15436 | ||
101595856 | JACJA14522 | ||
102435441 | MYOLU08335 | ||
117022606 | RHIFE18543 |
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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