solute carrier family 35 member A1
| UniProt | Protein Name |
|---|---|
| P78382 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| carbohydrate metabolic process | ||
| N-acetylneuraminate metabolic process | ||
| CMP-N-acetylneuraminate biosynthetic process | ||
| CMP-N-acetylneuraminate transmembrane transport | ||
| CMP-N-acetylneuraminate transmembrane transport |
| GO Term | Evidence Code | PMID |
|---|---|---|
| Golgi membrane | ||
| Golgi membrane | ||
| Golgi apparatus | ||
| plasma membrane | ||
| membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| CMP-N-acetylneuraminate transmembrane transporter activity | ||
| CMP-N-acetylneuraminate transmembrane transporter activity | ||
| CMP-N-acetylneuraminate transmembrane transporter activity | ||
| protein binding | ||
| antiporter activity |
| Species | Protein | mRNA |
|---|---|---|
| Mus musculus | NP_036025 | NM_011895 |
| Rattus norvegicus | XP_232884 | XM_232884 |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070258 | congenital disorder of glycosylation type IIf |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000093 | Proteinuria |
| HP:0000252 | Microcephaly |
| HP:0000322 | Short philtrum |
| HP:0000465 | Webbed neck |
| HP:0000490 | Deeply set eye |
| HP:0000601 | Hypotelorism |
| HP:0000639 | Nystagmus |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| Disease ID | Disease Name |
|---|---|
| ORPHA:238459 |
|
| OMIM:603585 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: April 6, 2026