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Protein

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

Gene

SLC7A9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.3 Publications

GO - Molecular functioni

  • antiporter activity Source: GO_Central
  • L-cystine transmembrane transporter activity Source: UniProtKB
  • neutral amino acid transmembrane transporter activity Source: UniProtKB
  • peptide antigen binding Source: UniProtKB

GO - Biological processi

  • L-cystine transport Source: UniProtKB
  • leukocyte migration Source: Reactome
  • neutral amino acid transport Source: UniProtKB
  • protein-containing complex assembly Source: ProtInc

Keywordsi

Biological processAmino-acid transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-210991 Basigin interactions
R-HSA-352230 Amino acid transport across the plasma membrane
R-HSA-5660883 Defective SLC7A9 causes cystinuria (CSNU)

Protein family/group databases

TCDBi2.A.3.8.19 the amino acid-polyamine-organocation (apc) family

Names & Taxonomyi

Protein namesi
Recommended name:
b(0,+)-type amino acid transporter 1
Short name:
b(0,+)AT1
Alternative name(s):
Glycoprotein-associated amino acid transporter b0,+AT1
Solute carrier family 7 member 9
Gene namesi
Name:SLC7A9
Synonyms:BAT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000021488.12
HGNCiHGNC:11067 SLC7A9
MIMi604144 gene
neXtProtiNX_P82251

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 29CytoplasmicSequence analysisAdd BLAST29
Transmembranei30 – 50HelicalSequence analysisAdd BLAST21
Topological domaini51 – 60ExtracellularSequence analysis10
Transmembranei61 – 81HelicalSequence analysisAdd BLAST21
Topological domaini82 – 99CytoplasmicSequence analysisAdd BLAST18
Transmembranei100 – 120HelicalSequence analysisAdd BLAST21
Topological domaini121 – 148ExtracellularSequence analysisAdd BLAST28
Transmembranei149 – 169HelicalSequence analysisAdd BLAST21
Topological domaini170 – 178CytoplasmicSequence analysis9
Transmembranei179 – 199HelicalSequence analysisAdd BLAST21
Topological domaini200 – 210ExtracellularSequence analysisAdd BLAST11
Transmembranei211 – 231HelicalSequence analysisAdd BLAST21
Topological domaini232 – 251CytoplasmicSequence analysisAdd BLAST20
Transmembranei252 – 272HelicalSequence analysisAdd BLAST21
Topological domaini273 – 296ExtracellularSequence analysisAdd BLAST24
Transmembranei297 – 317HelicalSequence analysisAdd BLAST21
Topological domaini318 – 348CytoplasmicSequence analysisAdd BLAST31
Transmembranei349 – 369HelicalSequence analysisAdd BLAST21
Topological domaini370 – 374ExtracellularSequence analysis5
Transmembranei375 – 395HelicalSequence analysisAdd BLAST21
Topological domaini396 – 409CytoplasmicSequence analysisAdd BLAST14
Transmembranei410 – 430HelicalSequence analysisAdd BLAST21
Topological domaini431 – 434ExtracellularSequence analysis4
Transmembranei435 – 455HelicalSequence analysisAdd BLAST21
Topological domaini456 – 487CytoplasmicSequence analysisAdd BLAST32

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Cystinuria (CSNU)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure.
See also OMIM:220100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01899710Missing in CSNU. 1 Publication1
Natural variantiVAR_07230840V → M in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_01436344I → T in CSNU; type I. 1 PublicationCorresponds to variant dbSNP:rs121908485EnsemblClinVar.1
Natural variantiVAR_07230951S → F in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_01899852P → L in CSNU. 1 Publication1
Natural variantiVAR_07231062V → M in CSNU. 1 PublicationCorresponds to variant dbSNP:rs964489627Ensembl.1
Natural variantiVAR_01899963G → R in CSNU. 1 Publication1
Natural variantiVAR_01900069W → L in CSNU. 1 Publication1
Natural variantiVAR_01900170A → V in CSNU; mild loss of amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs769448665Ensembl.1
Natural variantiVAR_07231199Y → H in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_072312105G → E in CSNU. 1 Publication1
Natural variantiVAR_010256105G → R in CSNU; type III; frequent mutation; severe loss of amino acid transport activity. 5 PublicationsCorresponds to variant dbSNP:rs121908480EnsemblClinVar.1
Natural variantiVAR_072313114W → R in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_072314120I → L in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_019002123T → M in CSNU. 3 PublicationsCorresponds to variant dbSNP:rs79987078EnsemblClinVar.1
Natural variantiVAR_019003126A → T in CSNU. 1 PublicationCorresponds to variant dbSNP:rs372306844Ensembl.1
Natural variantiVAR_019004158A → AA in CSNU. 1 Publication1
Natural variantiVAR_010257170V → M in CSNU; type III; frequent mutation; complete loss of amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs121908479EnsemblClinVar.1
Natural variantiVAR_010258182A → T in CSNU; type III; frequent mutation; mild loss of amino acid transport activity. 4 PublicationsCorresponds to variant dbSNP:rs79389353EnsemblClinVar.1
Natural variantiVAR_019005187I → F in CSNU. 1 PublicationCorresponds to variant dbSNP:rs368441237Ensembl.1
Natural variantiVAR_072315188V → M in CSNU. 1 PublicationCorresponds to variant dbSNP:rs531029519Ensembl.1
Natural variantiVAR_019006193I → II in CSNU. 1 Publication1
Natural variantiVAR_010259195G → R in CSNU; type III; decreased amino acid transport activity. 3 PublicationsCorresponds to variant dbSNP:rs121908482EnsemblClinVar.1
Natural variantiVAR_022603224A → V in CSNU; non-classic type I. 1 PublicationCorresponds to variant dbSNP:rs140873167Ensembl.1
Natural variantiVAR_072316227N → D in CSNU; decreased amino acid transport activity. 1 Publication1
Natural variantiVAR_019008230W → R in CSNU. 1 Publication1
Natural variantiVAR_072317232Y → C in CSNU. 1 PublicationCorresponds to variant dbSNP:rs121908487EnsemblClinVar.1
Natural variantiVAR_019009241I → T in CSNU. 1 PublicationCorresponds to variant dbSNP:rs777371504Ensembl.1
Natural variantiVAR_019010244Missing in CSNU. 1 Publication1
Natural variantiVAR_072318250R → K in CSNU. 1 PublicationCorresponds to variant dbSNP:rs766529640Ensembl.1
Natural variantiVAR_010260259G → R in CSNU; type III. 2 PublicationsCorresponds to variant dbSNP:rs121908483EnsemblClinVar.1
Natural variantiVAR_014364261P → L in CSNU; types I and III. 2 PublicationsCorresponds to variant dbSNP:rs121908486EnsemblClinVar.1
Natural variantiVAR_072319283L → F in CSNU. 1 Publication1
Natural variantiVAR_072320286S → F in CSNU; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs755135545Ensembl.1
Natural variantiVAR_072321316A → V in CSNU. 1 Publication1
Natural variantiVAR_072322319G → R in CSNU. 1 Publication1
Natural variantiVAR_072323324A → E in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_015885330V → M in CSNU; type III. 1 PublicationCorresponds to variant dbSNP:rs201618022EnsemblClinVar.1
Natural variantiVAR_022604331A → V in CSNU; non-classic type I. 1 PublicationCorresponds to variant dbSNP:rs768466784Ensembl.1
Natural variantiVAR_072324333R → Q in CSNU; decreased amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs769576205Ensembl.1
Natural variantiVAR_019011333R → W in CSNU; frequent mutation; severe loss of amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs121908484EnsemblClinVar.1
Natural variantiVAR_014365354A → T in CSNU; type III; severe loss of amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs939028046Ensembl.1
Natural variantiVAR_019012379S → R in CSNU. 1 PublicationCorresponds to variant dbSNP:rs142270619Ensembl.1
Natural variantiVAR_019013382A → T in CSNU. 1 PublicationCorresponds to variant dbSNP:rs774878350Ensembl.1
Natural variantiVAR_072325401K → E in CSNU; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs760264924Ensembl.1
Natural variantiVAR_072326426L → P in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_072327482P → L in CSNU; decreased amino acid transport activity; no effect on localization to the apical membrane. 1 PublicationCorresponds to variant dbSNP:rs146815072Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi482P → A, G, S or V: No effect on amino acid transport activity. 1 Publication1
Mutagenesisi482P → F, I, M or W: Decreased amino acid transport activity. 1 Publication1

Keywords - Diseasei

Cystinuria, Disease mutation

Organism-specific databases

DisGeNETi11136
MalaCardsiSLC7A9
MIMi220100 phenotype
OpenTargetsiENSG00000021488
Orphaneti93613 Cystinuria type B
PharmGKBiPA35927

Chemistry databases

DrugBankiDB00138 L-Cystine

Polymorphism and mutation databases

BioMutaiSLC7A9
DMDMi12585187

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000542581 – 487b(0,+)-type amino acid transporter 1Add BLAST487

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei18PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

PaxDbiP82251
PeptideAtlasiP82251
PRIDEiP82251

PTM databases

iPTMnetiP82251
PhosphoSitePlusiP82251
SwissPalmiP82251

Expressioni

Tissue specificityi

Expressed in the brush border membrane in the kidney (at protein level). Kidney, small intestine, liver and placenta.2 Publications

Gene expression databases

BgeeiENSG00000021488
CleanExiHS_BAT1
HS_SLC7A9
ExpressionAtlasiP82251 baseline and differential
GenevisibleiP82251 HS

Organism-specific databases

HPAiHPA042591

Interactioni

Subunit structurei

Disulfide-linked heterodimer with the amino acid transport protein SLC3A1. Interacts with CAV1.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
CREB3O43889-23EBI-3936589,EBI-625022

Protein-protein interaction databases

BioGridi116309, 3 interactors
IntActiP82251, 4 interactors
MINTiP82251
STRINGi9606.ENSP00000023064

Structurei

3D structure databases

ProteinModelPortaliP82251
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1287 Eukaryota
COG0531 LUCA
GeneTreeiENSGT00760000119037
HOGENOMiHOG000098892
HOVERGENiHBG000476
InParanoidiP82251
KOiK13868
OMAiFGWAQKI
OrthoDBiEOG091G07EM
PhylomeDBiP82251

Family and domain databases

InterProiView protein in InterPro
IPR002293 AA/rel_permease1
PfamiView protein in Pfam
PF13520 AA_permease_2, 1 hit
PIRSFiPIRSF006060 AA_transporter, 1 hit

Sequencei

Sequence statusi: Complete.

P82251-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGDTGLRKRR EDEKSIQSQE PKTTSLQKEL GLISGISIIV GTIIGSGIFV
60 70 80 90 100
SPKSVLSNTE AVGPCLIIWA ACGVLATLGA LCFAELGTMI TKSGGEYPYL
110 120 130 140 150
MEAYGPIPAY LFSWASLIVI KPTSFAIICL SFSEYVCAPF YVGCKPPQIV
160 170 180 190 200
VKCLAAAAIL FISTVNSLSV RLGSYVQNIF TAAKLVIVAI IIISGLVLLA
210 220 230 240 250
QGNTKNFDNS FEGAQLSVGA ISLAFYNGLW AYDGWNQLNY ITEELRNPYR
260 270 280 290 300
NLPLAIIIGI PLVTACYILM NVSYFTVMTA TELLQSQAVA VTFGDRVLYP
310 320 330 340 350
ASWIVPLFVA FSTIGAANGT CFTAGRLIYV AGREGHMLKV LSYISVRRLT
360 370 380 390 400
PAPAIIFYGI IATIYIIPGD INSLVNYFSF AAWLFYGLTI LGLIVMRFTR
410 420 430 440 450
KELERPIKVP VVIPVLMTLI SVFLVLAPII SKPTWEYLYC VLFILSGLLF
460 470 480
YFLFVHYKFG WAQKISKPIT MHLQMLMEVV PPEEDPE
Length:487
Mass (Da):53,481
Last modified:May 1, 2000 - v1
Checksum:iEF2C30DDE15594F1
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti52P → S in CAB54003 (PubMed:10588648).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01899710Missing in CSNU. 1 Publication1
Natural variantiVAR_07230840V → M in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_01436344I → T in CSNU; type I. 1 PublicationCorresponds to variant dbSNP:rs121908485EnsemblClinVar.1
Natural variantiVAR_07230951S → F in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_01899852P → L in CSNU. 1 Publication1
Natural variantiVAR_07231062V → M in CSNU. 1 PublicationCorresponds to variant dbSNP:rs964489627Ensembl.1
Natural variantiVAR_01899963G → R in CSNU. 1 Publication1
Natural variantiVAR_01900069W → L in CSNU. 1 Publication1
Natural variantiVAR_01900170A → V in CSNU; mild loss of amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs769448665Ensembl.1
Natural variantiVAR_07231199Y → H in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_072312105G → E in CSNU. 1 Publication1
Natural variantiVAR_010256105G → R in CSNU; type III; frequent mutation; severe loss of amino acid transport activity. 5 PublicationsCorresponds to variant dbSNP:rs121908480EnsemblClinVar.1
Natural variantiVAR_072313114W → R in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_072314120I → L in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_019002123T → M in CSNU. 3 PublicationsCorresponds to variant dbSNP:rs79987078EnsemblClinVar.1
Natural variantiVAR_019003126A → T in CSNU. 1 PublicationCorresponds to variant dbSNP:rs372306844Ensembl.1
Natural variantiVAR_048153142V → A Common polymorphism; no effect on amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs12150889EnsemblClinVar.1
Natural variantiVAR_019004158A → AA in CSNU. 1 Publication1
Natural variantiVAR_010257170V → M in CSNU; type III; frequent mutation; complete loss of amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs121908479EnsemblClinVar.1
Natural variantiVAR_010258182A → T in CSNU; type III; frequent mutation; mild loss of amino acid transport activity. 4 PublicationsCorresponds to variant dbSNP:rs79389353EnsemblClinVar.1
Natural variantiVAR_019005187I → F in CSNU. 1 PublicationCorresponds to variant dbSNP:rs368441237Ensembl.1
Natural variantiVAR_072315188V → M in CSNU. 1 PublicationCorresponds to variant dbSNP:rs531029519Ensembl.1
Natural variantiVAR_019006193I → II in CSNU. 1 Publication1
Natural variantiVAR_010259195G → R in CSNU; type III; decreased amino acid transport activity. 3 PublicationsCorresponds to variant dbSNP:rs121908482EnsemblClinVar.1
Natural variantiVAR_019007223L → M Common polymorphism; slightly decreased amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs1007160EnsemblClinVar.1
Natural variantiVAR_022603224A → V in CSNU; non-classic type I. 1 PublicationCorresponds to variant dbSNP:rs140873167Ensembl.1
Natural variantiVAR_072316227N → D in CSNU; decreased amino acid transport activity. 1 Publication1
Natural variantiVAR_019008230W → R in CSNU. 1 Publication1
Natural variantiVAR_072317232Y → C in CSNU. 1 PublicationCorresponds to variant dbSNP:rs121908487EnsemblClinVar.1
Natural variantiVAR_019009241I → T in CSNU. 1 PublicationCorresponds to variant dbSNP:rs777371504Ensembl.1
Natural variantiVAR_019010244Missing in CSNU. 1 Publication1
Natural variantiVAR_072318250R → K in CSNU. 1 PublicationCorresponds to variant dbSNP:rs766529640Ensembl.1
Natural variantiVAR_010260259G → R in CSNU; type III. 2 PublicationsCorresponds to variant dbSNP:rs121908483EnsemblClinVar.1
Natural variantiVAR_014364261P → L in CSNU; types I and III. 2 PublicationsCorresponds to variant dbSNP:rs121908486EnsemblClinVar.1
Natural variantiVAR_072319283L → F in CSNU. 1 Publication1
Natural variantiVAR_072320286S → F in CSNU; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs755135545Ensembl.1
Natural variantiVAR_072321316A → V in CSNU. 1 Publication1
Natural variantiVAR_072322319G → R in CSNU. 1 Publication1
Natural variantiVAR_072323324A → E in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_015885330V → M in CSNU; type III. 1 PublicationCorresponds to variant dbSNP:rs201618022EnsemblClinVar.1
Natural variantiVAR_022604331A → V in CSNU; non-classic type I. 1 PublicationCorresponds to variant dbSNP:rs768466784Ensembl.1
Natural variantiVAR_072324333R → Q in CSNU; decreased amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs769576205Ensembl.1
Natural variantiVAR_019011333R → W in CSNU; frequent mutation; severe loss of amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs121908484EnsemblClinVar.1
Natural variantiVAR_014365354A → T in CSNU; type III; severe loss of amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs939028046Ensembl.1
Natural variantiVAR_019012379S → R in CSNU. 1 PublicationCorresponds to variant dbSNP:rs142270619Ensembl.1
Natural variantiVAR_019013382A → T in CSNU. 1 PublicationCorresponds to variant dbSNP:rs774878350Ensembl.1
Natural variantiVAR_072325401K → E in CSNU; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs760264924Ensembl.1
Natural variantiVAR_072326426L → P in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_072327482P → L in CSNU; decreased amino acid transport activity; no effect on localization to the apical membrane. 1 PublicationCorresponds to variant dbSNP:rs146815072Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF141289 mRNA Translation: AAD55898.1
AJ249199 mRNA Translation: CAB54003.1
AB033548 mRNA Translation: BAB16840.1
AF421181
, AF421170, AF421171, AF421172, AF421173, AF421174, AF421175, AF421176, AF421177, AF421178, AF421179, AF421180 Genomic DNA Translation: AAN40878.1
AK313708 mRNA Translation: BAG36453.1
BC017962 mRNA Translation: AAH17962.1
CCDSiCCDS12425.1
RefSeqiNP_001119807.1, NM_001126335.1
NP_001229965.1, NM_001243036.1
NP_055085.1, NM_014270.4
XP_011524704.1, XM_011526402.2
UniGeneiHs.743345

Genome annotation databases

EnsembliENST00000023064; ENSP00000023064; ENSG00000021488
ENST00000587772; ENSP00000468439; ENSG00000021488
ENST00000590341; ENSP00000464822; ENSG00000021488
GeneIDi11136
KEGGihsa:11136
UCSCiuc002ntu.6 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiBAT1_HUMAN
AccessioniPrimary (citable) accession number: P82251
Secondary accession number(s): B2R9A6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: May 1, 2000
Last modified: May 23, 2018
This is version 172 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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