UniProt | Protein Name |
---|---|
Q9Y487 |
|
GO Term | Evidence Code | PMID |
---|---|---|
Golgi lumen acidification |
|
|
regulation of macroautophagy |
|
|
immune response |
|
|
intracellular iron ion homeostasis | ||
vacuolar acidification |
GO Term | Evidence Code | PMID |
---|---|---|
focal adhesion | ||
phagocytic vesicle membrane |
|
|
lysosomal membrane | ||
perinuclear region of cytoplasm | ||
vacuolar proton-transporting V-type ATPase complex |
GO Term | Evidence Code | PMID |
---|---|---|
ATPase binding | ||
proton-transporting ATPase activity, rotational mechanism | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0070138 | autosomal recessive cutis laxa type IIIB | |
DOID:0070140 | autosomal recessive cutis laxa type IIC | |
DOID:0070141 | autosomal recessive cutis laxa type II classic type | |
DOID:0070142 | autosomal dominant cutis laxa | |
DOID:0080001 | bone disease | |
DOID:0080332 | bicuspid aortic valve disease | |
DOID:0080333 | aortic valve disease 1 | |
DOID:0080334 | aortic valve disease 2 | |
DOID:0080564 | congenital disorder of glycosylation Il | |
DOID:0090130 | cortical dysplasia-focal epilepsy syndrome |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000023 | Inguinal hernia |
HP:0000028 | Cryptorchidism |
HP:0000160 | Narrow mouth |
HP:0000218 | High palate |
HP:0000252 | Microcephaly |
HP:0000253 | Progressive microcephaly |
HP:0000260 | Wide anterior fontanel |
HP:0000270 | Delayed cranial suture closure |
HP:0000272 | Malar flattening |
Disease ID | Disease Name |
---|---|
OMIM:219200 |
|
ORPHA:357074 |
|
OMIM:278250 |
|
ORPHA:2834 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101076155 | TAKRU29466 | ||
102026867 | CHILA18414 | ||
110196835 | PHACI21044 | ||
108435410 | PYGNA19368 | ||
101971514 | ICTTR06584 | ||
118285461 | SCOMX09523 | ||
118314112 | SCOMX32825 | ||
102434782 | MYOLU16890 | ||
100218036 | TAEGU05934 | ||
101806637 | FICAL01983 |
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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