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:0070140 | autosomal recessive cutis laxa type IIC | |
DOID:0070141 | autosomal recessive cutis laxa type II classic type | |
DOID:0080199 | colorectal carcinoma | |
DOID:0080326 | familial hypertrophic cardiomyopathy | |
DOID:0090130 | cortical dysplasia-focal epilepsy syndrome | |
DOID:0090132 | complex cortical dysplasia with other brain malformations 7 | |
DOID:0090137 | complex cortical dysplasia with other brain malformations 1 | |
DOID:0110096 | short-rib thoracic dysplasia 14 with polydactyly | |
DOID:0110106 | atrial heart septal defect 1 | |
DOID:0110107 | atrial heart septal defect 2 |
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 |
---|---|---|---|
103045016 | ASTMX06194 | ||
108256618 | ICTPU18045 | ||
113570270 | ELEEL07610 | ||
113576113 | ELEEL17708 | ||
105027670 | ESOLU18548 | ||
106603053 | SALSA118787 | ||
115151433 | SALTR01443 | ||
115154796 | SALTR102668 | ||
115195476 | SALTR97292 | ||
115204399 | SALTR80980 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024