UniProt | Protein Name |
---|---|
Q8NBK3 |
|
GO Term | Evidence Code | PMID |
---|---|---|
glycosphingolipid catabolic process |
|
|
post-translational protein modification | ||
protein oxidation |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum lumen |
|
|
endoplasmic reticulum |
GO Term | Evidence Code | PMID |
---|---|---|
oxidoreductase activity |
|
|
cupric ion binding | ||
formylglycine-generating oxidase activity | ||
protein binding | ||
identical protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050441 | mucosulfatidosis | |
DOID:0060215 | Balo concentric sclerosis | |
DOID:0060292 | X-linked chondrodysplasia punctata 1 | |
DOID:0060293 | autosomal dominant chondrodysplasia punctata | |
DOID:0080029 | autosomal recessive spinocerebellar ataxia 16 | |
DOID:0110851 | rhizomelic chondrodysplasia punctata type 1 | |
DOID:0110852 | rhizomelic chondrodysplasia punctata type 2 | |
DOID:0110853 | rhizomelic chondrodysplasia punctata type 3 | |
DOID:0111390 | mucopolysaccharidosis Ih | |
DOID:0111391 | mucopolysaccharidosis IVA |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000238 | Hydrocephalus |
HP:0000252 | Microcephaly |
HP:0000256 | Macrocephaly |
HP:0000280 | Coarse facial features |
HP:0000319 | Smooth philtrum |
HP:0000365 | Hearing impairment |
HP:0000407 | Sensorineural hearing impairment |
HP:0000463 | Anteverted nares |
HP:0000505 | Visual impairment |
Disease ID | Disease Name |
---|---|
ORPHA:585 |
|
OMIM:272200 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
38022 | FB:FBgn0035102 | ||
103185048 | CALMI31315 | ||
553423 | ZFIN:ZDB-GENE-060421-3113 | DANRE38296 | |
108271736 | ICTPU01991 | ||
113575976 | ELEEL17913 | ||
105017007 | ESOLU50117 | ||
115207912 | SALTR37266 | ||
115557787 | GADMO10231 | ||
101167950 | ORYLA14329 | ||
100705306 | ORENI60267 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024