InnateDB Protein
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IDBP-59895.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SLC34A1
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Protein Name
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solute carrier family 34 (sodium phosphate), member 1
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Synonyms
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FRTS2; NAPI-3; NPHLOP1; NPT2; NPTIIa; SLC11; SLC17A2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000321424
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InnateDB Gene
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IDBG-59893 (SLC34A1)
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Protein Structure
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Function |
May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 70-80% of the apical influx.
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Subcellular Localization |
Membrane; Multi-pass membrane protein.
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Disease Associations |
Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1) [MIM:612286]: A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. {ECO:0000269PubMed:12324554}. Note=The disease is caused by mutations affecting the gene represented in this entry.Fanconi renotubular syndrome 2 (FRTS2) [MIM:613388]: A disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. {ECO:0000269PubMed:20335586}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Kidney and lung.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.
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Predicted by orthology |
Total |
11 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR003841
Sodium-dependent phosphate transport protein
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PFAM |
PF02690
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q06495
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PhosphoSite |
PhosphoSite-Q06495
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TrEMBL |
V9H0H5
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UniProt Splice Variant |
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Entrez Gene |
6569
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UniGene |
Hs.936
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RefSeq |
NP_003043
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HUGO |
HGNC:11019
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OMIM |
182309
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CCDS |
CCDS4418
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HPRD |
08918
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IMGT |
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EMBL |
AC145098
AK298299
BC035294
CH471195
L13258
U56678
U56685
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GenPept |
AAA36354
AAD14851
AAD14857
AAH35294
BAG60555
EAW85008
EAW85009
EAW85010
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