UniProt | Protein Name |
---|---|
Q96EG1 |
|
GO Term | Evidence Code | PMID |
---|---|---|
retina development in camera-type eye | ||
lysosome organization | ||
sulfur compound metabolic process | ||
homeostasis of number of cells | ||
gene expression |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum lumen | ||
lysosome | ||
endoplasmic reticulum | ||
extracellular space |
GO Term | Evidence Code | PMID |
---|---|---|
arylsulfatase activity | ||
metal ion binding | ||
N-sulfoglucosamine-3-sulfatase activity |
Gene Ontology |
---|
hydrolase activity |
sulfuric ester hydrolase activity |
InterPro |
---|
Alkaline-phosphatase-like, core domain superfamily |
Sulfatase, N-terminal |
Sulfatase, conserved site |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050439 | Usher syndrome | |
DOID:12798 | mucopolysaccharidosis |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000375 | Abnormal cochlea morphology |
HP:0000407 | Sensorineural hearing impairment |
HP:0000408 | Progressive sensorineural hearing impairment |
HP:0000483 | Astigmatism |
HP:0000512 | Abnormal electroretinogram |
HP:0000518 | Cataract |
HP:0000546 | Retinal degeneration |
HP:0000572 | Visual loss |
HP:0000575 | Scotoma |
Disease ID | Disease Name |
---|---|
OMIM:618144 |
|
ORPHA:231183 |
|
Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|---|
103243148 | CHLSB05710 | |||
103250650 | CARSF26967 | |||
103665676 | URSMA10850 | |||
103742211 | NANGA08815 | |||
103819760 | SERCA15455 | |||
103910035 | DANRE03873 | |||
104654029 | RHIRO09992 | |||
105297747 | PTEVA10272 | |||
105469045 | MACNE15041 | |||
105535633 | MANLE00009 |
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GlyCosmos Portal v4.1.0
Last updated: December 9, 2024