Amino acid transport defects (IEMs) (Homo sapiens)

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Apical surface of renal tubule7, 85, 9, 10834, 5, 8-10Neutral AADicarboxylicamino aciduria (DA)Basolateral surfaceof renal tubuleBasic AAK+AlanineL-glutamate3 Na+SLC7A7CystineSLC1A1L-cysteine8SLC36A2SLC6A20SLC6A19TMEM27SLC3A1SLC7A93 Na+K+H+L-aspartate8D-aspartateAcidic AAL-cysteineL-glutamateL-aspartateD-aspartateAcidic AAH+8H+GlycineImino AAProlineH+GlycineImino AAProlineProlineProlineCl-Cl-2 Na+2 Na+Iminoglycinuria8Na+AsparagineCysteineGlutamineGlycineIsoleucineLeucineMethioninePhenylalanineProlineSerineThreonineTryptophanTyrosineValineNeutral AAAlanineNa+AsparagineCysteineGlutamineGlycineIsoleucineLeucineMethioninePhenylalanineProlineSerineThreonineTryptophanTyrosineValineHartnupdisorder (HD)CystinuriaArginineLysineHistidineBasic AAArginineLysineHistidineNeutral AACystineNeutral AA1, 2, 6SLC3A2Neutral AANa+Basic AABasic AANeutral AANa+Lysinuric proteinintolerance (LPI)Tubulus lumen


Description

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)).

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Bibliography

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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. Zerangue N, Kavanaugh MP; ''Flux coupling in a neuronal glutamate transporter.''; Nature, 1996 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
128556view04:55, 12 February 2024EweitzSoften disease color
128555view04:55, 12 February 2024EweitzStandardize node shapes, soften disease color, standardize case
125459view10:16, 15 February 2023DeSlAdded last missing IDs
125415view10:31, 13 February 2023DdiglesAdded ChEBI IDs for metabolites.
119101view09:47, 17 June 2021FinterlyAdded ISBN for book citation
114166view16:37, 23 December 2020DeSlUpdated main lit ref
114165view16:36, 23 December 2020DeSl
114163view15:44, 23 December 2020DeSlUpdate description.
114162view15:41, 23 December 2020DeSlFixed 2 small typos
114159view15:33, 23 December 2020DeSlOntology Term : 'lysinuric protein intolerance pathway' added !
114158view15:33, 23 December 2020DeSlOntology Term : 'lysinuric protein intolerance' added !
114157view15:33, 23 December 2020DeSlOntology Term : 'iminoglycinuria pathway' added !
114156view15:33, 23 December 2020DeSlOntology Term : 'dicarboxylic aminoaciduria' added !
114155view15:31, 23 December 2020DeSlOntology Term : 'inborn error amino acid transport disorder pathway' added !
114154view15:31, 23 December 2020DeSlOntology Term : 'Hartnup disease pathway' added !
114153view15:31, 23 December 2020DeSlOntology Term : 'Hartnup disease' added !
114152view15:31, 23 December 2020DeSlOntology Term : 'cystinuria pathway' added !
114151view15:30, 23 December 2020DeSlOntology Term : 'cystinuria' added !
114150view15:29, 23 December 2020DeSlUpdated description
114149view15:24, 23 December 2020DeSlAdded info on LPI
114148view15:18, 23 December 2020DeSlAdded bottom info on cystinuria
114147view12:20, 23 December 2020DeSlAdded HD disease
114146view12:08, 23 December 2020DeSlUpdated links to disorders
114145view12:04, 23 December 2020DeSlAdded description
114144view11:54, 23 December 2020DeSlRemoving comment iso description
114143view11:53, 23 December 2020DeSlAdded lit. ref for full PW
114142view11:51, 23 December 2020DeSlNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
2 Na+MetaboliteCHEBI:29101 (ChEBI)
3 Na+MetaboliteCHEBI:29101 (ChEBI)
AlanineMetaboliteCHEBI:16449 (ChEBI)
ArginineMetaboliteCHEBI:29016 (ChEBI)
AsparagineMetaboliteCHEBI:22653 (ChEBI)
Cl-MetaboliteCHEBI:17996 (ChEBI)
CysteineMetaboliteCHEBI:15356 (ChEBI)
CystineMetaboliteCHEBI:17376 (ChEBI)
D-aspartateMetaboliteCHEBI:17364 (ChEBI)
GlutamineMetaboliteCHEBI:28300 (ChEBI)
GlycineMetaboliteCHEBI:15428 (ChEBI)
H+MetaboliteCHEBI:15378 (ChEBI)
HistidineMetaboliteCHEBI:27570 (ChEBI)
IsoleucineMetaboliteCHEBI:24898 (ChEBI)
K+MetaboliteCHEBI:29103 (ChEBI) Potassium ion
L-aspartateMetaboliteCHEBI:17053 (ChEBI)
L-cysteineMetaboliteCHEBI:17561 (ChEBI)
L-glutamateMetaboliteCHEBI:16015 (ChEBI)
LeucineMetaboliteCHEBI:25017 (ChEBI)
LysineMetaboliteCHEBI:25094 (ChEBI)
MethionineMetaboliteCHEBI:16811 (ChEBI)
Na+MetaboliteCHEBI:29101 (ChEBI)
PhenylalanineMetaboliteCHEBI:28044 (ChEBI)
ProlineMetaboliteCHEBI:26271 (ChEBI)
SLC1A1ProteinP43005 (Uniprot-TrEMBL)
SLC36A2ProteinQ495M3 (Uniprot-TrEMBL)
SLC3A1ProteinQ07837 (Uniprot-TrEMBL)
SLC3A2ProteinP08195 (Uniprot-TrEMBL) 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
SLC6A19 ProteinQ695T7 (Uniprot-TrEMBL)
SLC6A20ProteinQ9NP91 (Uniprot-TrEMBL)
SLC7A7ProteinQ9UM01 (Uniprot-TrEMBL)
SLC7A9ProteinP82251 (Uniprot-TrEMBL)
SerineMetaboliteCHEBI:17822 (ChEBI)
TMEM27ProteinQ9HBJ8 (Uniprot-TrEMBL)
ThreonineMetaboliteCHEBI:26986 (ChEBI)
TryptophanMetaboliteCHEBI:27897 (ChEBI)
TyrosineMetaboliteCHEBI:18186 (ChEBI)
ValineMetaboliteCHEBI:27266 (ChEBI)

Annotated Interactions

No annotated interactions

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