UniProt | Protein Name |
---|---|
Q9Y487 |
|
GO Term | Evidence Code | PMID |
---|---|---|
Golgi lumen acidification |
|
|
regulation of macroautophagy |
|
|
immune response |
|
|
intracellular iron ion homeostasis | ||
vacuolar acidification |
GO Term | Evidence Code | PMID |
---|---|---|
intracellular membrane-bounded organelle | ||
vacuolar proton-transporting V-type ATPase, V0 domain | ||
proton-transporting V-type ATPase complex |
|
|
transmembrane transporter complex | ||
plasma membrane |
GO Term | Evidence Code | PMID |
---|---|---|
ATPase binding | ||
proton-transporting ATPase activity, rotational mechanism | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0090132 | complex cortical dysplasia with other brain malformations 7 | |
DOID:0090137 | complex cortical dysplasia with other brain malformations 1 | |
DOID:0110096 | short-rib thoracic dysplasia 14 with polydactyly | |
DOID:0110892 | inflammatory bowel disease 1 | |
DOID:0110942 | autosomal recessive osteopetrosis 1 | |
DOID:0110946 | autosomal recessive osteopetrosis 7 | |
DOID:0111045 | platelet-type bleeding disorder 9 | |
DOID:0111056 | platelet-type bleeding disorder 3 | |
DOID:0111057 | platelet-type bleeding disorder 11 | |
DOID:0111135 | congenital generalized lipodystrophy type 1 |
HPO ID | HPO Term |
---|---|
HP:0002751 | Kyphoscoliosis |
HP:0002761 | Generalized joint hypermobility |
HP:0002808 | Kyphosis |
HP:0002812 | Coxa vara |
HP:0003100 | Slender long bone |
HP:0003160 | Abnormal isoelectric focusing of serum transferrin |
HP:0003196 | Short nose |
HP:0003199 | Decreased muscle mass |
HP:0003577 | Congenital onset |
HP:0003691 | Scapular winging |
Disease ID | Disease Name |
---|---|
OMIM:219200 |
|
ORPHA:357074 |
|
OMIM:278250 |
|
ORPHA:2834 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
103239340 | CHLSB02773 | ||
108540639 | RHIBE04548 | ||
104666329 | RHIRO00210 | ||
100598741 | NOMLE01352 | ||
114586165 | PODMU28734 | ||
107562586 | SINGR70167 | ||
107569397 | SINGR95359 | ||
107592366 | SINGR22166 | ||
107599966 | SINGR61475 | ||
106842224 | EQUAS14028 |
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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