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:0060862 | mal de Meleda | |
DOID:0070129 | autosomal recessive cutis laxa type IID | |
DOID:0070130 | autosomal dominant cutis laxa 1 | |
DOID:0070131 | autosomal dominant cutis laxa 3 | |
DOID:0070132 | autosomal recessive cutis laxa type IIIA | |
DOID:0070133 | autosomal recessive cutis laxa type IB | |
DOID:0070134 | autosomal recessive cutis laxa type IIA | |
DOID:0070135 | autosomal recessive cutis laxa type IA | |
DOID:0070136 | autosomal dominant cutis laxa 2 | |
DOID:0070137 | autosomal recessive cutis laxa type IIB |
HPO ID | HPO Term |
---|---|
HP:0001582 | Redundant skin |
HP:0001611 | Hypernasal speech |
HP:0001762 | Talipes equinovarus |
HP:0001763 | Pes planus |
HP:0001788 | Premature rupture of membranes |
HP:0001799 | Short nail |
HP:0001808 | Fragile nails |
HP:0001869 | Deep plantar creases |
HP:0002007 | Frontal bossing |
HP:0002073 | Progressive cerebellar ataxia |
Disease ID | Disease Name |
---|---|
OMIM:219200 |
|
ORPHA:357074 |
|
OMIM:278250 |
|
ORPHA:2834 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100766909 | CRIGR17212 | ||
21871 | MGI:104855 | MOUSE44675 | |
116455 | RGD:621006 | ||
101787762 | CAVPO22728 | ||
101569632 | OCTDE15102 | ||
103101820 | MONDO18514 | ||
102449285 | PELSI03939 | ||
102449675 | PELSI03939 | ||
103661250 | URSMA18001 | ||
101071950 | TAKRU43980 |
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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