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:0070138 | autosomal recessive cutis laxa type IIIB | |
DOID:0070140 | autosomal recessive cutis laxa type IIC | |
DOID:0070141 | autosomal recessive cutis laxa type II classic type | |
DOID:0070142 | autosomal dominant cutis laxa | |
DOID:0080001 | bone disease | |
DOID:0080332 | bicuspid aortic valve disease | |
DOID:0080333 | aortic valve disease 1 | |
DOID:0080334 | aortic valve disease 2 | |
DOID:0080564 | congenital disorder of glycosylation Il | |
DOID:0090130 | cortical dysplasia-focal epilepsy syndrome |
HPO ID | HPO Term |
---|---|
HP:0004322 | Short stature |
HP:0004426 | Abnormal cheek morphology |
HP:0004993 | Slender long bones with narrow diaphyses |
HP:0005272 | Prominent nasolabial fold |
HP:0005328 | Progeroid facial appearance |
HP:0005425 | Recurrent sinopulmonary infections |
HP:0005989 | Redundant neck skin |
HP:0006114 | Multiple palmar creases |
HP:0006191 | Deep palmar crease |
HP:0006891 | Thick cerebral cortex |
Disease ID | Disease Name |
---|---|
OMIM:219200 |
|
ORPHA:357074 |
|
OMIM:278250 |
|
ORPHA:2834 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
116836712 | CHEAB02023 | ||
109523582 | HIPCM20271 | ||
109523583 | HIPCM20271 | ||
115048498 | ECHNA21430 | ||
115382449 | SALFA14386 | ||
115398366 | SALFA08532 | ||
113486147 | ATHCN16276 | ||
105825687 | PROCO06992 | ||
854444 | SGD:S000005796 | ||
855076 | SGD:S000004658 |
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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