UniProt | Protein Name |
---|---|
Q9Y2D2 |
|
A0A1W2PQL8 |
|
A0A1W2PSD1 |
|
A0A1W2PRT7 |
|
GO Term | Evidence Code | PMID |
---|---|---|
UDP-N-acetylglucosamine transmembrane transport | ||
UDP-N-acetylglucosamine metabolic process |
|
|
UDP-galactose transmembrane import into Golgi lumen |
GO Term | Evidence Code | PMID |
---|---|---|
Golgi apparatus |
|
|
Golgi membrane |
GO Term | Evidence Code | PMID |
---|---|---|
antiporter activity | ||
UDP-N-acetylglucosamine transmembrane transporter activity |
|
|
UDP-galactose transmembrane transporter activity | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Species | Protein | mRNA |
---|---|---|
Rattus norvegicus | NP_001012082 | NM_001012082 |
Caenorhabditis elegans | NP_493723 | NM_061322 |
Mus musculus | NP_659151 | NM_144902 |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050568 | spondylocostal dysostosis | |
DOID:0060041 | autism spectrum disorder | |
DOID:0060249 | scoliosis | |
DOID:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:1059 | intellectual disability | |
DOID:10907 | microcephaly | |
DOID:11832 | visual epilepsy | |
DOID:12721 | multiple epiphyseal dysplasia | |
DOID:12804 | mucopolysaccharidosis IV | |
DOID:12849 | autistic disorder |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000308 | Microretrognathia |
HP:0000729 | Autistic behavior |
HP:0001249 | Intellectual disability |
HP:0001256 | Intellectual disability, mild |
HP:0001263 | Global developmental delay |
HP:0001290 | Generalized hypotonia |
HP:0001385 | Hip dysplasia |
HP:0001765 | Hammertoe |
Disease ID | Disease Name |
---|---|
ORPHA:370943 |
|
OMIM:615553 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
113482657 | ATHCN10978 | ||
109097008 | CYPCA39940 | ||
109098922 | CYPCA69099 | ||
103734651 | NANGA05381 | ||
116448437 | CORMO26392 | ||
103267110 | CARSF04727 | ||
115611130 | STRHB10994 |
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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