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:0090104 | Huntington's disease-like 2 | |
DOID:0110892 | inflammatory bowel disease 1 | |
DOID:10003 | sensorineural hearing loss | |
DOID:1059 | intellectual disability | |
DOID:10763 | hypertension | |
DOID:10825 | essential hypertension | |
DOID:10908 | hydrocephalus | |
DOID:1094 | attention deficit hyperactivity disorder | |
DOID:11504 | autonomic neuropathy | |
DOID:11771 | spontaneous ocular nystagmus |
HPO ID | HPO Term |
---|---|
HP:0008347 | Decreased activity of mitochondrial complex IV |
HP:0008873 | Disproportionate short-limb short stature |
HP:0009826 | Limb undergrowth |
HP:0010621 | Cutaneous syndactyly of toes |
HP:0012301 | Type II transferrin isoform profile |
HP:0012368 | Flat face |
HP:0012707 | Elevated brain lactate level by MRS |
HP:0012736 | Profound global developmental delay |
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