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Entry version 182 (18 Sep 2019)
Sequence version 1 (01 May 2000)
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Protein

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

Gene

SLC7A9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processAmino-acid transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-210991 Basigin interactions
R-HSA-352230 Amino acid transport across the plasma membrane
R-HSA-5619113 Defective SLC3A1 causes cystinuria (CSNU)
R-HSA-5660883 Defective SLC7A9 causes cystinuria (CSNU)

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.3.8.19 the amino acid-polyamine-organocation (apc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC7A9
Synonyms:BAT1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11067 SLC7A9

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604144 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P82251

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 29CytoplasmicSequence analysisAdd BLAST29
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs1198613438Ensembl.1
Natural variantiVAR_07231062V → M in CSNU. 1 PublicationCorresponds to variant dbSNP:rs964489627Ensembl.1
Natural variantiVAR_01899963G → R in CSNU. 1 PublicationCorresponds to variant dbSNP:rs1395997436Ensembl.1
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 PublicationCorresponds to variant dbSNP:rs1357600282Ensembl.1
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
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
11136

MalaCards human disease database

More...
MalaCardsi
SLC7A9
MIMi220100 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000021488

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
93613 Cystinuria type B

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35927

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00138 Cystine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC7A9

Domain mapping of disease mutations (DMDM)

More...
DMDMi
12585187

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000542581 – 487b(0,+)-type amino acid transporter 1Add BLAST487

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei18PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...
CPTACi
CPTAC-1190
CPTAC-1191

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P82251

PeptideAtlas

More...
PeptideAtlasi
P82251

PRoteomics IDEntifications database

More...
PRIDEi
P82251

ProteomicsDB human proteome resource

More...
ProteomicsDBi
57704

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P82251

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P82251

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P82251

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000021488 Expressed in 103 organ(s), highest expression level in nephron tubule

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P82251 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P82251 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA042591

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Disulfide-linked heterodimer with the amino acid transport protein SLC3A1.

Interacts with CAV1.

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116309, 4 interactors

Protein interaction database and analysis system

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IntActi
P82251, 4 interactors

Molecular INTeraction database

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MINTi
P82251

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000023064

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1287 Eukaryota
COG0531 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156370

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000098892

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P82251

KEGG Orthology (KO)

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KOi
K13868

Identification of Orthologs from Complete Genome Data

More...
OMAi
TGMRLPY

Database of Orthologous Groups

More...
OrthoDBi
621852at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P82251

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002293 AA/rel_permease1

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13520 AA_permease_2, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF006060 AA_transporter, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iEF2C30DDE15594F1
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EKD0K7EKD0_HUMAN
b(0,+)-type amino acid transporter ...
SLC7A9
39Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs1198613438Ensembl.1
Natural variantiVAR_07231062V → M in CSNU. 1 PublicationCorresponds to variant dbSNP:rs964489627Ensembl.1
Natural variantiVAR_01899963G → R in CSNU. 1 PublicationCorresponds to variant dbSNP:rs1395997436Ensembl.1
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 PublicationCorresponds to variant dbSNP:rs1357600282Ensembl.1
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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS12425.1

NCBI Reference Sequences

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RefSeqi
NP_001119807.1, NM_001126335.1
NP_001229965.1, NM_001243036.1
NP_055085.1, NM_014270.4
XP_011524704.1, XM_011526402.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000023064; ENSP00000023064; ENSG00000021488
ENST00000587772; ENSP00000468439; ENSG00000021488
ENST00000590341; ENSP00000464822; ENSG00000021488

Database of genes from NCBI RefSeq genomes

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GeneIDi
11136

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:11136

UCSC genome browser

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UCSCi
uc002ntu.6 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

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

Chemistry databases

DrugBankiDB00138 Cystine

Protein family/group databases

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

PTM databases

iPTMnetiP82251
PhosphoSitePlusiP82251
SwissPalmiP82251

Polymorphism and mutation databases

BioMutaiSLC7A9
DMDMi12585187

Proteomic databases

CPTACiCPTAC-1190
CPTAC-1191
PaxDbiP82251
PeptideAtlasiP82251
PRIDEiP82251
ProteomicsDBi57704

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
11136
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
11136
DisGeNETi11136

GeneCards: human genes, protein and diseases

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GeneCardsi
SLC7A9
HGNCiHGNC:11067 SLC7A9
HPAiHPA042591
MalaCardsiSLC7A9
MIMi220100 phenotype
604144 gene
neXtProtiNX_P82251
OpenTargetsiENSG00000021488
Orphaneti93613 Cystinuria type B
PharmGKBiPA35927

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1287 Eukaryota
COG0531 LUCA
GeneTreeiENSGT00940000156370
HOGENOMiHOG000098892
InParanoidiP82251
KOiK13868
OMAiTGMRLPY
OrthoDBi621852at2759
PhylomeDBiP82251

Enzyme and pathway databases

ReactomeiR-HSA-210991 Basigin interactions
R-HSA-352230 Amino acid transport across the plasma membrane
R-HSA-5619113 Defective SLC3A1 causes cystinuria (CSNU)
R-HSA-5660883 Defective SLC7A9 causes cystinuria (CSNU)

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
11136

Pharos

More...
Pharosi
P82251

Protein Ontology

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PROi
PR:P82251

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000021488 Expressed in 103 organ(s), highest expression level in nephron tubule
ExpressionAtlasiP82251 baseline and differential
GenevisibleiP82251 HS

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBAT1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P82251
Secondary accession number(s): B2R9A6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: May 1, 2000
Last modified: September 18, 2019
This is version 182 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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