Amino acid transport defects (IEMs) (Homo sapiens)
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Description
This pathway was inspired by Chapter 6 (edition 4) of the book of Blau (ISBN 3642403360 (978-3642403361)).
Quality Tags
Ontology Terms
Saving...Bibliography
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- Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL Jr, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernández E, Estévez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacín M; ''Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.''; Nat Genet, 1999 PubMed Europe PMC Scholia
- Shigeta Y, Kanai Y, Chairoungdua A, Ahmed N, Sakamoto S, Matsuo H, Kim DK, Fujimura M, Anzai N, Mizoguchi K, Ueda T, Akakura K, Ichikawa T, Ito H, Endou H; ''A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.''; Kidney Int, 2006 PubMed Europe PMC Scholia
- Camargo SM, Singer D, Makrides V, Huggel K, Pos KM, Wagner CA, Kuba K, Danilczyk U, Skovby F, Kleta R, Penninger JM, Verrey F; ''Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.''; Gastroenterology, 2009 PubMed Europe PMC Scholia
- Kanai Y, Stelzner M, Nussberger S, Khawaja S, Hebert SC, Smith CP, Hediger MA; ''The neuronal and epithelial human high affinity glutamate transporter. Insights into structure and mechanism of transport.''; J Biol Chem, 1994 PubMed Europe PMC Scholia
- Abousaab A, Warsi J, Elvira B, Lang F; ''Caveolin-1 Sensitivity of Excitatory Amino Acid Transporters EAAT1, EAAT2, EAAT3, and EAAT4.''; J Membr Biol, 2016 PubMed Europe PMC Scholia
- Pfeiffer R, Loffing J, Rossier G, Bauch C, Meier C, Eggermann T, Loffing-Cueni D, Kühn LC, Verrey F; ''Luminal heterodimeric amino acid transporter defective in cystinuria.''; Mol Biol Cell, 1999 PubMed Europe PMC Scholia
- Nenad Blau, Carlo Dionisi Vici, K Michael Gibson, Marinus Duran; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases''; Springer, 2014
- Bailey CG, Ryan RM, Thoeng AD, Ng C, King K, Vanslambrouck JM, Auray-Blais C, Vandenberg RJ, Bröer S, Rasko JE; ''Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria.''; J Clin Invest, 2011 PubMed Europe PMC Scholia
- Arriza JL, Fairman WA, Wadiche JI, Murdoch GH, Kavanaugh MP, Amara SG; ''Functional comparisons of three glutamate transporter subtypes cloned from human motor cortex.''; J Neurosci, 1994 PubMed Europe PMC Scholia
- Zerangue N, Kavanaugh MP; ''Flux coupling in a neuronal glutamate transporter.''; Nature, 1996 PubMed Europe PMC Scholia
History
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External references
DataNodes
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| Name | Type | Database reference | Comment |
|---|---|---|---|
| 2 Na+ | Metabolite | ||
| 3 Na+ | Metabolite | ||
| Asparagine | Metabolite | ||
| Cl- | Metabolite | ||
| Cysteine | Metabolite | ||
| D-aspartate | Metabolite | ||
| Glutamine | Metabolite | ||
| Glycine | Metabolite | ||
| H+ | Metabolite | ||
| Isoleucine | Metabolite | ||
| K+ | Metabolite | ||
| L-aspartate | Metabolite | ||
| L-cysteine | Metabolite | ||
| L-glutamate | Metabolite | ||
| Leucine | Metabolite | ||
| Methionine | Metabolite | ||
| Na+ | Metabolite | ||
| Phenylalanine | Metabolite | ||
| Proline | Metabolite | ||
| SLC1A1 | Protein | P43005 (Uniprot-TrEMBL)  | |
| SLC36A2 | Protein | Q495M3 (Uniprot-TrEMBL) | |
| SLC3A1 | Protein | ||
| SLC6A19 | Protein | ||
| SLC6A20 | Protein | Q9NP91 (Uniprot-TrEMBL) | |
| SLC7A9 | Protein | ||
| Serine | Metabolite | ||
| TMEM27 | Protein | ||
| Threonine | Metabolite | ||
| Tryptophan | Metabolite | ||
| Tyrosine | Metabolite | ||
| Valine | Metabolite | ||
| alanine | Metabolite | ||
| glycine | Metabolite | ||
| proline | Metabolite |
Annotated Interactions
No annotated interactions
