UniProt | Protein Name |
---|---|
P38606 |
|
GO Term | Evidence Code | PMID |
---|---|---|
intracellular iron ion homeostasis | ||
vacuolar acidification | ||
lysosomal lumen acidification | ||
lysosomal lumen acidification | ||
proton motive force-driven ATP synthesis |
GO Term | Evidence Code | PMID |
---|---|---|
Golgi membrane | ||
vacuolar proton-transporting V-type ATPase, V1 domain | ||
nucleoplasm | ||
lysosomal membrane | ||
lysosomal membrane |
GO Term | Evidence Code | PMID |
---|---|---|
protein binding | ||
ATP binding | ||
ATP hydrolysis activity | ||
proton-transporting ATP synthase activity, rotational mechanism | ||
proton-transporting ATPase activity, rotational mechanism |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0070129 | autosomal recessive cutis laxa type IID | |
DOID:0112275 | developmental and epileptic encephalopathy 93 |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000023 | Inguinal hernia |
HP:0000054 | Micropenis |
HP:0000218 | High palate |
HP:0000252 | Microcephaly |
HP:0000253 | Progressive microcephaly |
HP:0000272 | Malar flattening |
HP:0000278 | Retrognathia |
HP:0000298 | Mask-like facies |
Disease ID | Disease Name |
---|---|
ORPHA:357074 |
|
OMIM:618012 |
|
OMIM:617403 |
|
ORPHA:442835 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
523 | Xenbase:XB-GENE-990439 | ||
11964 | Xenbase:XB-GENE-990439 | MOUSE17684 | |
37950 | Xenbase:XB-GENE-990439 | ||
84620 | Xenbase:XB-GENE-990439 | ||
240119 | Xenbase:XB-GENE-990439 | ||
282147 | BOVIN14516 | ||
301155 | Xenbase:XB-GENE-990439 | ||
337583 | DANRE51290 | ||
394110 | DANRE36501 | ||
403116 | Xenbase:XB-GENE-990439 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: April 7, 2025