SLC3A1
Summary: This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| solute carrier family 3 member 1 | MIM:104614 | Ensembl:ENSG00000138079 | HGNC:HGNC:11025 | PA35893 | 2p21 |
GO terms in SLC3A1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0005975 | carbohydrate metabolic process |
| BP | TAS | GO:0006520 | cellular amino acid metabolic process |
| BP | IBA | GO:0006865 | amino acid transport |
| BP | TAS | GO:0006865 | amino acid transport |
| BP | IBA | GO:0009313 | oligosaccharide catabolic process |
| BP | TAS | GO:0015802 | basic amino acid transport |
| BP | TAS | GO:0015811 | L-cystine transport |
| BP | IEA | GO:1990822 | basic amino acid transmembrane transport |
| CC | IEA | GO:0005774 | vacuolar membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IEA | GO:0005887 | integral component of plasma membrane |
| CC | TAS | GO:0016020 | membrane |
| CC | IDA | GO:0031526 | brush border membrane |
| CC | HDA | GO:0070062 | extracellular exosome |
| MF | IEA | GO:0003824 | catalytic activity |
| MF | IBA | GO:0004556 | alpha-amylase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | TAS | GO:0015171 | amino acid transmembrane transporter activity |
| MF | TAS | GO:0015174 | basic amino acid transmembrane transporter activity |
| MF | IBA | GO:0015179 | L-amino acid transmembrane transporter activity |
| MF | TAS | GO:0015184 | L-cystine transmembrane transporter activity |
| MF | IEA | GO:0046982 | protein heterodimerization activity |
Gene expression in normal tissue: SLC3A1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SLC3A1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-352230 | Amino acid transport across the plasma membrane |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-425393 | Transport of inorganic cations/anions and amino acids/oligopeptides |
| reactome | R-HSA-425407 | SLC-mediated transmembrane transport |
| reactome | R-HSA-5619102 | SLC transporter disorders |
| reactome | R-HSA-5619113 | Defective SLC3A1 causes cystinuria (CSNU) |
| reactome | R-HSA-5619115 | Disorders of transmembrane transporters |
| smpdb | SMP00078 | Chlorothiazide Action Pathway |
| smpdb | SMP00080 | Polythiazide Action Pathway |
| smpdb | SMP00081 | Methyclothiazide Action Pathway |
| smpdb | SMP00088 | Bumetanide Action Pathway |
| smpdb | SMP00090 | Bendroflumethiazide Action Pathway |
| smpdb | SMP00091 | Quinethazone Action Pathway |
| smpdb | SMP00097 | Ethacrynic Acid Action Pathway |
| smpdb | SMP00100 | Hydrochlorothiazide Action Pathway |
| smpdb | SMP00103 | Cyclothiazide Action Pathway |
| smpdb | SMP00105 | Metolazone Action Pathway |
| smpdb | SMP00108 | Hydroflumethiazide Action Pathway |
| smpdb | SMP00110 | Indapamide Action Pathway |
| smpdb | SMP00115 | Furosemide Action Pathway |
| smpdb | SMP00118 | Torsemide Action Pathway |
| smpdb | SMP00121 | Trichlormethiazide Action Pathway |
| smpdb | SMP00122 | Chlorthalidone Action Pathway |
| smpdb | SMP00132 | Triamterene Action Pathway |
| smpdb | SMP00133 | Amiloride Action Pathway |
| smpdb | SMP00134 | Spironolactone Action Pathway |
| smpdb | SMP00135 | Eplerenone Action Pathway |
| smpdb | SMP00184 | Glucose Transporter Defect (SGLT2) |
| smpdb | SMP00189 | Hartnup Disorder |
| smpdb | SMP00193 | Iminoglycinuria |
| smpdb | SMP00197 | Lysinuric Protein Intolerance |
| smpdb | SMP00245 | Glucose Transporter Defect (SGLT2) |
| smpdb | SMP00483 | Kidney Function |
| smpdb | SMP00583 | Blue diaper syndrome |
| smpdb | SMP00585 | Lysinuric protein intolerance (LPI) |
| smpdb | SMP00723 | Cystinuria |
| kegg | hsa04974 | Protein digestion and absorption - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SLC3A1
CLASSFICATION
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