Version 5.4
| Homo sapiens Gene: SLC29A3 | |||||||||
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| Summary | |||||||||
| InnateDB Gene | IDBG-77614.6 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | SLC29A3 | ||||||||
| Gene Name | solute carrier family 29 (nucleoside transporters), member 3 | ||||||||
| Synonyms | |||||||||
| Species | Homo sapiens | ||||||||
| Ensembl Gene | ENSG00000198246 | ||||||||
| Encoded Proteins |
solute carrier family 29 (nucleoside transporters), member 3
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||
| Entrez Gene | |||||||||
| Summary |
This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010] |
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| Gene Information | |||||||||
| Type | Protein coding | ||||||||
| Genomic Location | Chromosome 10:71319258-71363385 | ||||||||
| Strand | Forward strand | ||||||||
| Band | q22.1 | ||||||||
| Transcripts |
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| 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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| Orthologs | |||||||||
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Species
Mus musculus
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Gene ID
Gene Order
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| Pathways | |||||||||
| NETPATH | |||||||||
| REACTOME |
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway
Transport of vitamins, nucleosides, and related molecules pathway
Transmembrane transport of small molecules pathway
SLC-mediated transmembrane transport pathway
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| KEGG | |||||||||
| INOH | |||||||||
| PID NCI | |||||||||
| Cross-References | |||||||||
| SwissProt | Q9BZD2 | ||||||||
| TrEMBL | |||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 55315 | ||||||||
| UniGene | Hs.438419 | ||||||||
| RefSeq | NM_001174098 NM_018344 XM_006717910 | ||||||||
| HUGO | HGNC:23096 | ||||||||
| OMIM | 612373 | ||||||||
| CCDS | CCDS7310 | ||||||||
| HPRD | 11570 | ||||||||
| IMGT | |||||||||
| EMBL | AF326987 AK002022 AK304503 AK314497 AK316152 AL359183 AL359384 AY288928 AY358686 BC000223 BC041575 BC120996 BC120997 BK000392 | ||||||||
| GenPept | AAH00223 AAH41575 AAI20997 AAI20998 AAK00958 AAP41133 AAQ89049 BAA92041 BAG37097 BAG65311 BAH14523 CAI13424 CAI16088 DAA00364 | ||||||||
| RNA Seq Atlas | 55315 | ||||||||