SLC13A1 - solute carrier family 13 member 1 Gene
Also Known as NAS1; NaSi-1
Species: Homo sapiens
About SLC13A1
This gene has 4 transcripts (splice variants), 204 orthologues and 5 paralogues. Biased expression in kidney (RPKM 26.2), small intestine (RPKM 5.7) and 1 other tissue.
Summary
The protein encoded by this gene is an apical membrane Na(+)-sulfate cotransporter involved in sulfate homeostasis in the kidney. Defects in this gene lead to many pathophysiologic problems. [provided by RefSeq, May 2016]
SLC13A1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001324400.1 | NP_001311329.1 | solute carrier family 13 member 1 isoform 2 |
| NM_022444.4 | NP_071889.2 | solute carrier family 13 member 1 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables sodium:sulfate symporter activity |
IDA
IDA: Inferred from direct assay
|
11161786 | GOA |
SLC13A1 Protein Structure
Na_sulph_symp: Sodium:sulfate symporter transmembrane region (9 - 577)
- 0
- 100
- 200
- 300
- 400
- 500
- 595 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
solute carrier family 13 member 1 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Achondrogenesis, Type Ib |
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| Nephrotic Syndrome, Type 14 |
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| Atelosteogenesis |
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| Developmental And Epileptic Encephalopathy 25 |
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| Brown-Vialetto-Van Laere Syndrome 2 |
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