UniProt | Protein Name |
---|---|
P38606 |
|
GO Term | Evidence Code | PMID |
---|---|---|
intracellular iron ion homeostasis | ||
lysosomal lumen acidification | ||
vacuolar acidification |
|
|
proton transmembrane transport | ||
endosomal lumen acidification |
|
GO Term | Evidence Code | PMID |
---|---|---|
extrinsic component of synaptic vesicle membrane | ||
intracellular membrane-bounded organelle | ||
cytosol | ||
clathrin-coated vesicle membrane | ||
secretory granule |
GO Term | Evidence Code | PMID |
---|---|---|
proton-transporting ATPase activity, rotational mechanism | ||
proton-transporting ATP synthase activity, rotational mechanism | ||
ATP binding | ||
protein binding | ||
ATP hydrolysis activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0111138 | congenital generalized lipodystrophy type 4 | |
DOID:0112275 | developmental and epileptic encephalopathy 93 | |
DOID:10348 | blepharophimosis | |
DOID:10461 | dentin caries | |
DOID:10534 | stomach cancer | |
DOID:1059 | intellectual disability | |
DOID:10907 | microcephaly | |
DOID:1094 | attention deficit hyperactivity disorder | |
DOID:11383 | cryptorchidism | |
DOID:11712 | lipoatrophic diabetes mellitus |
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 |
---|---|
OMIM:618012 |
|
ORPHA:357074 |
|
ORPHA:442835 |
|
OMIM:617403 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
115537082 | GADMO36312 | ||
115547679 | GADMO55183 | ||
103456644 | POERE17561 | ||
103475419 | POERE07648 | ||
102221550 | XIPMA19516 | ||
102233759 | XIPMA02933 | ||
101165416 | ORYLA04168 | ||
101175115 | ORYLA04168 | ||
100710668 | ORENI04215 | ||
100710754 | ORENI75263 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024