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:3144 | cutis laxa | |
DOID:3535 | Unverricht-Lundborg syndrome | |
DOID:3891 | placental insufficiency | |
DOID:4028 | angioma serpiginosum | |
DOID:4480 | achondroplasia | |
DOID:4626 | hydranencephaly | |
DOID:483 | cavernous hemangioma | |
DOID:529 | blepharospasm | |
DOID:539 | ophthalmoplegia | |
DOID:540 | strabismus |
HPO ID | HPO Term |
---|---|
HP:0008070 | Sparse hair |
HP:0008689 | Bilateral cryptorchidism |
HP:0008897 | Postnatal growth retardation |
HP:0008947 | Infantile muscular hypotonia |
HP:0009125 | Lipodystrophy |
HP:0009933 | Narrow naris |
HP:0010844 | EEG with multifocal slow activity |
HP:0010954 | Hypoplastic right heart |
HP:0010989 | Abnormality of the intrinsic pathway |
HP:0011003 | High myopia |
Disease ID | Disease Name |
---|---|
OMIM:618012 |
|
ORPHA:357074 |
|
ORPHA:442835 |
|
OMIM:617403 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
3564970 | WB:WBGene00013025 | ||
34695 | FB:FBgn0032464 | ||
45012 | FB:FBgn0263598 | ||
45668 | FB:FBgn0265262 | ||
100184809 | CIOIN07642 | ||
103177564 | CALMI13372 | ||
102350094 | LATCH14376 | ||
337583 | ZFIN:ZDB-GENE-030131-9529 | DANRE51290 | |
394110 | ZFIN:ZDB-GENE-040426-1143 | DANRE36501 | |
103041856 | ASTMX06194 |
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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