UniProt | Protein Name |
---|---|
A0A384MQW4 |
|
Q15904 |
|
GO Term | Evidence Code | PMID |
---|---|---|
osteoclast development | ||
endosome to plasma membrane protein transport | ||
Golgi lumen acidification |
|
|
synaptic vesicle lumen acidification | ||
intracellular pH reduction |
|
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum-Golgi intermediate compartment membrane | ||
clathrin-coated vesicle membrane | ||
proton-transporting V-type ATPase complex | ||
endoplasmic reticulum membrane | ||
plasma membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
small GTPase binding | ||
transporter activator activity | ||
protein binding | ||
ATPase activator activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050429 | Hailey-Hailey disease | |
DOID:0050873 | follicular lymphoma | |
DOID:0060262 | gallbladder disease | |
DOID:0060762 | restrictive dermopathy | |
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 |
HPO ID | HPO Term |
---|---|
HP:0000348 | High forehead |
HP:0000407 | Sensorineural hearing impairment |
HP:0000540 | Hypermetropia |
HP:0000601 | Hypotelorism |
HP:0000973 | Cutis laxa |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001256 | Intellectual disability, mild |
HP:0001263 | Global developmental delay |
HP:0001382 | Joint hypermobility |
Disease ID | Disease Name |
---|---|
OMIM:300972 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
106502862 | CAPHI31958 | ||
108635054 | CAPHI31958 | ||
100328760 | RABIT16618 | ||
106000159 | DIPOR22326 | ||
54411 | MGI:109629 | MOUSE65644 | |
83615 | RGD:620423 | RATNO44190 | |
100724336 | CAVPO23716 | ||
101568796 | OCTDE23637 | ||
100022428 | MONDO35914 | ||
102451069 | PELSI00380 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024