Version 5.4
| Homo sapiens Gene: SLC35A1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-94128.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | SLC35A1 | ||||||||||||||||||
| Gene Name | solute carrier family 35 (CMP-sialic acid transporter), member A1 | ||||||||||||||||||
| Synonyms | CDG2F; CMPST; CST; hCST | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000164414 | ||||||||||||||||||
| Encoded Proteins |
solute carrier family 35 (CMP-sialic acid transporter), member A1
solute carrier family 35 (CMP-sialic acid transporter), member A1
solute carrier family 35 (CMP-sialic acid transporter), member A1
solute carrier family 35 (CMP-sialic acid transporter), member A1
solute carrier family 35 (CMP-sialic acid transporter), member A1
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 6:87470623-87512336 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | q15 | ||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 2 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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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME |
Transport of nucleotide sugars pathway
Transport of vitamins, nucleosides, and related molecules pathway
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein pathway
Asparagine N-linked glycosylation pathway
Transmembrane transport of small molecules pathway
Post-translational protein modification pathway
Synthesis of substrates in N-glycan biosythesis pathway
Sialic acid metabolism pathway
Metabolism of proteins pathway
SLC-mediated transmembrane transport pathway
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| KEGG | |||||||||||||||||||
| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | Q5W1L6 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 10559 | ||||||||||||||||||
| UniGene | Hs.423163 Hs.713287 | ||||||||||||||||||
| RefSeq | NM_001168398 NM_006416 | ||||||||||||||||||
| HUGO | HGNC:11021 | ||||||||||||||||||
| OMIM | 605634 | ||||||||||||||||||
| CCDS | CCDS5010 CCDS55043 | ||||||||||||||||||
| HPRD | 09290 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AJ851890 | ||||||||||||||||||
| GenPept | CAH65470 | ||||||||||||||||||
| RNA Seq Atlas | 10559 | ||||||||||||||||||