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solute carrier family 35 member A1
Summary
- Gene Symbol
-
- SLC35A1
- Aliases
-
- CMP-Sia-Tr
- CMP-sialic acid transporter
- CMPST
- hCST
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Antiport
- Congenital disorder of glycosylation
- Disease variant
- Golgi apparatus
- Reference proteome
- Sugar transport
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| P78382 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| CMP-N-acetylneuraminate transmembrane transport | ||
| carbohydrate metabolic process | ||
| protein modification process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| plasma membrane | ||
| membrane | ||
| Golgi apparatus | ||
| Golgi membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| antiporter activity | ||
| CMP-N-acetylneuraminate transmembrane transporter activity | ||
| protein binding |
GO Hierarchy
GlycoGene Database (GGDB)
- GGDB ID
- gg178
- Gene Symbol
-
- SLC35A1
- Orthologous Gene
| Species | Protein | mRNA |
|---|---|---|
| Rattus norvegicus | XP_232884 | XM_232884 |
| Mus musculus | NP_036025 | NM_011895 |
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110741 | type 1 diabetes mellitus 2 | |
| DOID:0110742 | type 1 diabetes mellitus 3 | |
| DOID:0050571 | congenital disorder of glycosylation type II | |
| DOID:0050572 | cone-rod dystrophy | |
| DOID:0050589 | inflammatory bowel disease | |
| DOID:0050590 | severe congenital neutropenia | |
| DOID:0050759 | myotonic dystrophy type 2 | |
| DOID:0070258 | congenital disorder of glycosylation type IIf | |
| DOID:0080348 | Alzheimer's disease 1 | |
| DOID:0080568 | congenital disorder of glycosylation Iq |
- The Human Phenotype Ontology
| 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 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 176227 | WB:WBGene00022721 | ||
| 103186196 | CALMI34067 | ||
| 102353095 | LATCH00705 | ||
| 100004536 | ZFIN:ZDB-GENE-080716-17 | DANRE18603 | |
| 103045907 | ASTMX12899 | ||
| 108255137 | ICTPU26039 | ||
| 113582949 | ELEEL31013 | ||
| 100194525 | SALSA76059 | ||
| 115174929 | SALTR54222 | ||
| 115194442 | SALTR27860 |
