Amino acid transport defects (IEMs) (WP5029)
Homo sapiens
Within the group of aminoacidurias, several renal amino acid transporters involved in reabsorption might be affected; this absorption takes place in the proximal convoluted tubule (PCT). This pathway presents four of these disorders, which proteins involved in the apical surface and one disorder where the protein is located at the basolateral surface of the renal tubule. One of these disorders, iminoglycinuria, is seen as a benign disease. This pathway was inspired by Chapter 6 (edition 4) of the book of Blau (ISBN 3642403360 (978-3642403361)).
Authors
Denise Slenter , Finterly Hu , Daniela Digles , and Eric WeitzActivity
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Organisms
Homo sapiensCommunities
Diseases Inherited Metabolic Disorders (IMD) Pathways Rare DiseasesAnnotations
Disease Ontology
cystinuria Hartnup disease dicarboxylic aminoaciduria lysinuric protein intolerancePathway Ontology
cystinuria pathway Hartnup disease pathway lysinuric protein intolerance pathway inborn error amino acid transport disorder pathway iminoglycinuria pathway| Label | Type | Compact URI | Comment |
|---|---|---|---|
| L-cysteine | Metabolite | chebi:17561 | |
| 3 Na+ | Metabolite | chebi:29101 | |
| Cystine | Metabolite | chebi:17376 | |
| L-glutamate | Metabolite | chebi:16015 | |
| K+ | Metabolite | chebi:29103 | Potassium ion |
| Alanine | Metabolite | chebi:16449 | |
| H+ | Metabolite | chebi:15378 | |
| L-aspartate | Metabolite | chebi:17053 | |
| D-aspartate | Metabolite | chebi:17364 | |
| Glycine | Metabolite | chebi:15428 | |
| Proline | Metabolite | chebi:26271 | |
| Cl- | Metabolite | chebi:17996 | |
| 2 Na+ | Metabolite | chebi:29101 | |
| Na+ | Metabolite | chebi:29101 | |
| Asparagine | Metabolite | chebi:22653 | |
| Cysteine | Metabolite | chebi:15356 | |
| Glutamine | Metabolite | chebi:28300 | |
| Isoleucine | Metabolite | chebi:24898 | |
| Leucine | Metabolite | chebi:25017 | |
| Methionine | Metabolite | chebi:16811 | |
| Phenylalanine | Metabolite | chebi:28044 | |
| Serine | Metabolite | chebi:17822 | |
| Threonine | Metabolite | chebi:26986 | |
| Tryptophan | Metabolite | chebi:27897 | |
| Tyrosine | Metabolite | chebi:18186 | |
| Valine | Metabolite | chebi:27266 | |
| Arginine | Metabolite | chebi:29016 | |
| Lysine | Metabolite | chebi:25094 | |
| Histidine | Metabolite | chebi:27570 | |
| SLC7A7 | Protein | uniprot:Q9UM01 | |
| SLC1A1 | Protein | uniprot:P43005 | |
| SLC36A2 | Protein | uniprot:Q495M3 | |
| SLC6A20 | Protein | uniprot:Q9NP91 | |
| SLC6A19 | Protein | uniprot:Q695T7 | |
| TMEM27 | Protein | uniprot:Q9HBJ8 | |
| SLC3A1 | Protein | uniprot:Q07837 | |
| SLC7A9 | Protein | uniprot:P82251 | |
| SLC3A2 | Protein | uniprot:P08195 | Annotation basis: 'The heterodimer formed by SLC3A2 and SLC7A6 or SLC3A2 and SLC7A7 mediates the uptake of dibasic amino acids (PubMed:9829974, PubMed:10903140).' Source: UniProt |
References
- Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases [Internet]. Blau N, Duran M, Gibson KM, Dionisi-Vici C. Springer; 2014. 0 p. Available from: https://books.google.com/books/about/Physician_s_Guide_to_the_Diagnosis_Treat.html?hl=&id=wJRBnwEACAAJ OpenLibrary Worldcat
- Functional comparisons of three glutamate transporter subtypes cloned from human motor cortex. Arriza JL, Fairman WA, Wadiche JI, Murdoch GH, Kavanaugh MP, Amara SG. J Neurosci. 1994 Sep;14(9):5559–69. PubMed Europe PMC Scholia
- The neuronal and epithelial human high affinity glutamate transporter. Insights into structure and mechanism of transport. Kanai Y, Stelzner M, Nussberger S, Khawaja S, Hebert SC, Smith CP, et al. J Biol Chem. 1994 Aug 12;269(32):20599–606. PubMed Europe PMC Scholia
- Flux coupling in a neuronal glutamate transporter. Zerangue N, Kavanaugh MP. Nature. 1996 Oct 17;383(6601):634–7. PubMed Europe PMC Scholia
- Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, et al. Nat Genet. 1999 Sep;23(1):52–7. PubMed Europe PMC Scholia
- Luminal heterodimeric amino acid transporter defective in cystinuria. Pfeiffer R, Loffing J, Rossier G, Bauch C, Meier C, Eggermann T, et al. Mol Biol Cell. 1999 Dec;10(12):4135–47. PubMed Europe PMC Scholia
- A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter. Shigeta Y, Kanai Y, Chairoungdua A, Ahmed N, Sakamoto S, Matsuo H, et al. Kidney Int. 2006 Apr;69(7):1198–206. PubMed Europe PMC Scholia
- Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. Camargo SMR, Singer D, Makrides V, Huggel K, Pos KM, Wagner CA, et al. Gastroenterology. 2009 Mar;136(3):872–82. PubMed Europe PMC Scholia
- Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria. Bailey CG, Ryan RM, Thoeng AD, Ng C, King K, Vanslambrouck JM, et al. J Clin Invest. 2011 Jan;121(1):446–53. PubMed Europe PMC Scholia
- Caveolin-1 Sensitivity of Excitatory Amino Acid Transporters EAAT1, EAAT2, EAAT3, and EAAT4. Abousaab A, Warsi J, Elvira B, Lang F. J Membr Biol. 2016 Jun;249(3):239–49. PubMed Europe PMC Scholia