Details of Protein

General Information of Protein (ID: PRT00778)
Name Solute carrier family 7 member 9 (SLC7A9)
Synonyms   Click to Show/Hide Synonyms of This Protein
b(0,+)AT1; Glycoprotein-associated amino acid transporter b0,+AT1; b(0,+)-type amino acid transporter 1; SLC7A9; BAT1
Gene Name SLC7A9 Gene ID
11136
UniProt ID
P82251
Family Amino acid/polyamine transporter (AAPT)
TC Number   TC: 2.A.3.8.19  (Click to Show/Hide the Complete TC Tree)
Amino acid/polyamine transporter (AAPT)
The L-type Amino Acid Transporter (LAT) Family
TC: 2.A.3.8.19
  Click to Show/Hide the Molecular/Functional Data (Sequence/Structure/Function) of This Protein
Sequence
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTE
AVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVI
KPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIF
TAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNY
ITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYP
ASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGI
IATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLI
SVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVV
PPEEDPE
Structure
6LI9 ; 6LID
Function Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Regulatory Network
Full List of Metabolite(s) Regulated by This Protein
      Organic acids and derivatives
            Cystine Click to Show/Hide the Full List of Regulating Pair(s):   8 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair (1) Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation ( N227D) of SLC7A9
                      Induced Change Cystine concentration: decrease
                      Summary Introduced Variation         Induced Change 
                      Disease Status Nephropathic cystinosis [ICD-11: 5C60]
                      Details It is reported that mutation ( N227D) of SLC7A9 leads to the decrease of cystine levels compared with control group.
               Regulating Pair (2) Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (1105delA; W69stop) of SLC7A9
                      Induced Change Cystine concentration: decrease
                      Summary Introduced Variation         Induced Change 
                      Disease Status Nephropathic cystinosis [ICD-11: 5C60]
                      Details It is reported that mutation (1105delA; W69stop) of SLC7A9 leads to the decrease of cystine levels compared with control group.
               Regulating Pair (3) Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (G195R) of SLC7A9
                      Induced Change Cystine concentration: decrease
                      Summary Introduced Variation         Induced Change 
                      Disease Status Nephropathic cystinosis [ICD-11: 5C60]
                      Details It is reported that mutation (G195R) of SLC7A9 leads to the decrease of cystine levels compared with control group.
               Regulating Pair (4) Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (L223M) of SLC7A9
                      Induced Change Cystine concentration: decrease
                      Summary Introduced Variation         Induced Change 
                      Disease Status Nephropathic cystinosis [ICD-11: 5C60]
                      Details It is reported that mutation (L223M) of SLC7A9 leads to the decrease of cystine levels compared with control group.
               Regulating Pair (5) Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (P482L) of SLC7A9
                      Induced Change Cystine concentration: decrease
                      Summary Introduced Variation         Induced Change 
                      Disease Status Nephropathic cystinosis [ICD-11: 5C60]
                      Details It is reported that mutation (P482L) of SLC7A9 leads to the decrease of cystine levels compared with control group.
               Regulating Pair (6) Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (R333Q) of SLC7A9
                      Induced Change Cystine concentration: decrease
                      Summary Introduced Variation         Induced Change 
                      Disease Status Nephropathic cystinosis [ICD-11: 5C60]
                      Details It is reported that mutation (R333Q) of SLC7A9 leads to the decrease of cystine levels compared with control group.
               Regulating Pair (7) Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (R333W) of SLC7A9
                      Induced Change Cystine concentration: decrease
                      Summary Introduced Variation         Induced Change 
                      Disease Status Nephropathic cystinosis [ICD-11: 5C60]
                      Details It is reported that mutation (R333W) of SLC7A9 leads to the decrease of cystine levels compared with control group.
               Regulating Pair (8) Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (V142A; L223M) of SLC7A9
                      Induced Change Cystine concentration: decrease
                      Summary Introduced Variation         Induced Change 
                      Disease Status Nephropathic cystinosis [ICD-11: 5C60]
                      Details It is reported that mutation (V142A and L223M) of SLC7A9 leads to the decrease of cystine levels compared with control group.
References
1 A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter. Kidney Int. 2006 Apr;69(7):1198-206.

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