Version 5.4
| Homo sapiens Protein: SLC35C1 | |||||||||
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| Summary | |||||||||
| InnateDB Protein | IDBP-41132.6 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | SLC35C1 | ||||||||
| Protein Name | solute carrier family 35, member C1 | ||||||||
| Synonyms | |||||||||
| Species | Homo sapiens | ||||||||
| Ensembl Protein | ENSP00000313318 | ||||||||
| InnateDB Gene | IDBG-41130 (SLC35C1) | ||||||||
| Protein Structure |
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| UniProt Annotation | |||||||||
| Function | Involved in GDP-fucose import from the cytoplasm into the Golgi lumen. | ||||||||
| Subcellular Localization | Golgi apparatus membrane; Multi-pass membrane protein. | ||||||||
| Disease Associations | Congenital disorder of glycosylation 2C (CDG2C) [MIM:266265]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The clinical features of CDG2C include mental retardation, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands. {ECO:0000269PubMed:11326279, ECO:0000269PubMed:11326280}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||
| Tissue Specificity | |||||||||
| Comments | |||||||||
| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||
| PDB ID | |||||||||
| InterPro |
IPR000620
Drug/metabolite transporter IPR004853 Triose-phosphate transporter domain IPR013657 UAA transporter |
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| PFAM |
PF00892
PF03151 PF08449 |
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| PRINTS | |||||||||
| PIRSF | |||||||||
| SMART | |||||||||
| TIGRFAMs | |||||||||
| Post-translational Modifications | |||||||||
| Modification | |||||||||
| Cross-References | |||||||||
| SwissProt | Q96A29 | ||||||||
| PhosphoSite | PhosphoSite- | ||||||||
| TrEMBL | Q96K20 | ||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 55343 | ||||||||
| UniGene | Hs.12211 | ||||||||
| RefSeq | NP_060859 | ||||||||
| HUGO | HGNC:20197 | ||||||||
| OMIM | 605881 | ||||||||
| CCDS | CCDS7914 | ||||||||
| HPRD | 09324 | ||||||||
| IMGT | |||||||||
| EMBL | AC044839 AF323970 AF326199 AK002182 AK027394 AK027747 AK074929 AK091245 AK315473 BC001427 CH471064 | ||||||||
| GenPept | AAH01427 AAK50397 AAK51705 BAA92126 BAB55080 BAB55339 BAG37859 BAG52032 BAG52316 EAW68031 EAW68032 | ||||||||