Details for: SLC7A9

Gene ID: 11136

Symbol: SLC7A9

Ensembl ID: ENSG00000021488

Description: solute carrier family 7 member 9

Associated with

Other Information

Genular Protein ID: 2192584693

Symbol: BAT1_HUMAN

Name: b(0,+)-type amino acid transporter 1

UniProtKB Accession Codes:

P82251 B2R9A6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CPTAC 2 CTD 1 ChEBI 14 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EMBL 17 EMDB 4 Ensembl 3 ExpressionAtlas 1 GO 13 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 9 PDBsum 4 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 4 RefSeq 4 Rhea 12 SAM 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TCDB 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 10471498

Title: Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b0,+AT) of rBAT.

PubMed ID: 10471498

DOI: 10.1038/12652

PubMed ID: 10588648

Title: Luminal heterodimeric amino acid transporter defective in cystinuria.

PubMed ID: 10588648

DOI: 10.1091/mbc.10.12.4135

PubMed ID: 11318953

Title: Human cystinuria-related transporter: localization and functional characterization.

PubMed ID: 11318953

DOI: 10.1046/j.1523-1755.2001.0590051821.x

PubMed ID: 12371955

Title: SLC7A9 mutations in all three cystinuria subtypes.

PubMed ID: 12371955

DOI: 10.1046/j.1523-1755.2002.00602.x

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8663357

Title: Obligatory amino acid exchange via systems bo,+-like and y+L-like. A tertiary active transport mechanism for renal reabsorption of cystine and dibasic amino acids.

PubMed ID: 8663357

DOI: 10.1074/jbc.271.30.17761

PubMed ID: 12167606

Title: rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney.

PubMed ID: 12167606

DOI: 10.1152/ajprenal.00071.2002

PubMed ID: 16825196

Title: The structural and functional units of heteromeric amino acid transporters. The heavy subunit rBAT dictates oligomerization of the heteromeric amino acid transporters.

PubMed ID: 16825196

DOI: 10.1074/jbc.m604049200

PubMed ID: 32817565

Title: Structural basis for amino acid exchange by a human heteromeric amino acid transporter.

PubMed ID: 32817565

DOI: 10.1073/pnas.2008111117

PubMed ID: 32494597

Title: Cryo-EM structure of the human heteromeric amino acid transporter b0,+AT-rBAT.

PubMed ID: 32494597

DOI: 10.1126/sciadv.aay6379

PubMed ID: 11157794

Title: Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-type I cystinuria.

PubMed ID: 11157794

DOI: 10.1093/hmg/10.4.305

PubMed ID: 12234283

Title: Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.

PubMed ID: 12234283

DOI: 10.1111/j.1523-1755.2002.kid552.x

PubMed ID: 12820697

Title: Mutation analysis of SLC7A9 in cystinuria patients in Sweden.

PubMed ID: 12820697

DOI: 10.1089/109065703321560886

PubMed ID: 16138908

Title: Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

PubMed ID: 16138908

DOI: 10.1111/j.1529-8817.2005.00185.x

PubMed ID: 15635077

Title: New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

PubMed ID: 15635077

DOI: 10.1136/jmg.2004.022244

PubMed ID: 16609684

Title: A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.

PubMed ID: 16609684

DOI: 10.1038/sj.ki.5000241

PubMed ID: 18752446

Title: Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes.

PubMed ID: 18752446

DOI: 10.1089/gte.2007.0113

PubMed ID: 19782624

Title: Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

PubMed ID: 19782624

DOI: 10.1016/j.ymgme.2009.09.001

Sequence Information:

  • Length: 487
  • Mass: 53481
  • Checksum: EF2C30DDE15594F1
  • Sequence:
    • MGDTGLRKRR EDEKSIQSQE PKTTSLQKEL GLISGISIIV GTIIGSGIFV SPKSVLSNTE 
AVGPCLIIWA ACGVLATLGA LCFAELGTMI TKSGGEYPYL MEAYGPIPAY LFSWASLIVI 
KPTSFAIICL SFSEYVCAPF YVGCKPPQIV VKCLAAAAIL FISTVNSLSV RLGSYVQNIF 
TAAKLVIVAI IIISGLVLLA QGNTKNFDNS FEGAQLSVGA ISLAFYNGLW AYDGWNQLNY 
ITEELRNPYR NLPLAIIIGI PLVTACYILM NVSYFTVMTA TELLQSQAVA VTFGDRVLYP 
ASWIVPLFVA FSTIGAANGT CFTAGRLIYV AGREGHMLKV LSYISVRRLT PAPAIIFYGI 
IATIYIIPGD INSLVNYFSF AAWLFYGLTI LGLIVMRFTR KELERPIKVP VVIPVLMTLI 
SVFLVLAPII SKPTWEYLYC VLFILSGLLF YFLFVHYKFG WAQKISKPIT MHLQMLMEVV 
PPEEDPE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.