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Entry version 187 (29 Sep 2021)
Sequence version 2 (24 Jan 2001)
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Protein

Y+L amino acid transporter 1

Gene

SLC7A7

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 sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in monocytes.

5 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Arginine transport is inhibited by protein kinase C (PKC) and treatment with phorbol-12-myristate-13-acetate (PMA).

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=31.7 µM for L-leucine (in the presence of 0.1 M NaCl)1 Publication
  2. KM=16.2 µM for L-leucine (in the presence of 0.1 M LiCl)1 Publication

<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

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9UM01

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-5660862, Defective SLC7A7 causes lysinuric protein intolerance (LPI)

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q9UM01

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.3.8.22, 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:
Y+L amino acid transporter 1
Alternative name(s):
Monocyte amino acid permease 2
Short name:
MOP-2
Solute carrier family 7 member 7
y(+)L-type amino acid transporter 1
Short name:
Y+LAT1
Short name:
y+LAT-1
<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:SLC7A7
<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 14

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11065, SLC7A7

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603593, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UM01

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000155465

<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

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 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>Transmembranei37 – 57HelicalSequence analysisAdd BLAST21
Transmembranei69 – 89HelicalSequence analysisAdd BLAST21
Transmembranei107 – 127HelicalSequence analysisAdd BLAST21
Transmembranei133 – 153HelicalSequence analysisAdd BLAST21
Transmembranei160 – 180HelicalSequence analysisAdd BLAST21
Transmembranei186 – 206HelicalSequence analysisAdd BLAST21
Transmembranei222 – 242HelicalSequence analysisAdd BLAST21
Transmembranei259 – 279HelicalSequence analysisAdd BLAST21
Transmembranei304 – 324HelicalSequence analysisAdd BLAST21
Transmembranei383 – 403HelicalSequence analysisAdd BLAST21
Transmembranei416 – 436HelicalSequence analysisAdd BLAST21
Transmembranei441 – 461HelicalSequence analysisAdd BLAST21

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

Lysinuric protein intolerance (LPI)8 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA metabolic disorder characterized by increased renal excretion of cationic amino acid (CAA), reduced CAA absorption from intestine, and orotic aciduria. On a normal diet, LPI patients present poor feeding, vomiting, diarrhea, episodes of hyperammoniaemic coma and growth retardation. Hepatosplenomegaly, osteoporosis and a life-threatening pulmonary involvement (alveolar proteinosis) are also seen. Biochemically LPI is characterized by defective transport of dibasic amino acids at the basolateral membrane of epithelial cells in kidney and intestine.
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_0390925T → I in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833792EnsemblClinVar.1
Natural variantiVAR_03909336Missing in LPI; failed to induce cationic amino acid transport activity. 1 Publication1
Natural variantiVAR_03059550M → K in LPI; failed to induce cationic amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs386833811EnsemblClinVar.1
Natural variantiVAR_03909453S → L in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833793EnsemblClinVar.1
Natural variantiVAR_01026154G → V in LPI; failed to induce cationic amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs121908677EnsemblClinVar.1
Natural variantiVAR_039096124L → P in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833814EnsemblClinVar.1
Natural variantiVAR_039097140A → P in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833815EnsemblClinVar.1
Natural variantiVAR_039098152F → L in LPI; moderately reduced cationic amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs386833816EnsemblClinVar.1
Natural variantiVAR_030596188T → I in LPI; failed to induce cationic amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs386833819EnsemblClinVar.1
Natural variantiVAR_039100191K → E in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833820EnsemblClinVar.1
Natural variantiVAR_030597238S → F in LPI. 2 PublicationsCorresponds to variant dbSNP:rs386833823EnsemblClinVar.1
Natural variantiVAR_039101251E → D in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833824EnsemblClinVar.1
Natural variantiVAR_039102261L → P in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833825EnsemblClinVar.1
Natural variantiVAR_030598333R → M in LPI. 2 PublicationsCorresponds to variant dbSNP:rs386833829EnsemblClinVar.1
Natural variantiVAR_010262334L → R in LPI; failed to induce cationic amino acid transport activity. 4 PublicationsCorresponds to variant dbSNP:rs72552272EnsemblClinVar.1
Natural variantiVAR_010999338G → D in LPI. 2 PublicationsCorresponds to variant dbSNP:rs386833795EnsemblClinVar.1
Natural variantiVAR_039103365N → Y in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833797EnsemblClinVar.1
Natural variantiVAR_011000386S → R in LPI; failed to induce cationic amino acid transport activity. 3 PublicationsCorresponds to variant dbSNP:rs386833799EnsemblClinVar.1
Natural variantiVAR_030599489S → P in LPI. 2 PublicationsCorresponds to variant dbSNP:rs386833810EnsemblClinVar.1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...
DisGeNETi
9056

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
SLC7A7

MalaCards human disease database

More...
MalaCardsi
SLC7A7
MIMi222700, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000155465

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

More...
Orphaneti
470, Lysinuric protein intolerance

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35925

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9UM01, Tbio

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB08838, Agmatine
DB13146, Fluciclovine (18F)
DB00130, L-Glutamine

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC7A7

Domain mapping of disease mutations (DMDM)

More...
DMDMi
12643378

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000542811 – 511Y+L amino acid transporter 1Add BLAST511

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
Modified residuei25PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi325N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9UM01

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9UM01

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9UM01

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

More...
PaxDbi
Q9UM01

PeptideAtlas

More...
PeptideAtlasi
Q9UM01

PRoteomics IDEntifications database

More...
PRIDEi
Q9UM01

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
85165

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q9UM01, 1 site

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UM01

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

More...
PhosphoSitePlusi
Q9UM01

<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

Highest expression in kidney and peripheral blood leukocytes. Weaker expression is observed in lung, heart, placenta, spleen, testis and small intestine. Expressed in normal fibroblasts and those from LPI patients. Also expressed in HUVECs, monocytes, retinal pigment epithelial cells, and various carcinoma cell lines, with highest expression in a colon-carcinoma cell line.7 Publications

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Expression is stimulated and enhanced by IFNG/IFN-gamma.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000155465, Expressed in monocyte and 185 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9UM01, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9UM01, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000155465, Tissue enhanced (blood, intestine, kidney)

<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 SLC3A2/4F2hc.

2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
114518, 4 interactors

Protein interaction database and analysis system

More...
IntActi
Q9UM01, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000380666

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9UM01, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 28DisorderedSequence analysisAdd BLAST28

<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

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eggNOGi
KOG1287, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000160134

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_007946_3_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9UM01

Identification of Orthologs from Complete Genome Data

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OMAi
KIGQGYT

Database of Orthologous Groups

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OrthoDBi
867824at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UM01

TreeFam database of animal gene trees

More...
TreeFami
TF313355

Family and domain databases

Integrated resource of protein families, domains and functional sites

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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

<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 11 potential isoforms that are computationally mapped.Show allAlign All

Q9UM01-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVDSTEYEVA SQPEVETSPL GDGASPGPEQ VKLKKEISLL NGVCLIVGNM
60 70 80 90 100
IGSGIFVSPK GVLIYSASFG LSLVIWAVGG LFSVFGALCY AELGTTIKKS
110 120 130 140 150
GASYAYILEA FGGFLAFIRL WTSLLIIEPT SQAIIAITFA NYMVQPLFPS
160 170 180 190 200
CFAPYAASRL LAAACICLLT FINCAYVKWG TLVQDIFTYA KVLALIAVIV
210 220 230 240 250
AGIVRLGQGA STHFENSFEG SSFAVGDIAL ALYSALFSYS GWDTLNYVTE
260 270 280 290 300
EIKNPERNLP LSIGISMPIV TIIYILTNVA YYTVLDMRDI LASDAVAVTF
310 320 330 340 350
ADQIFGIFNW IIPLSVALSC FGGLNASIVA ASRLFFVGSR EGHLPDAICM
360 370 380 390 400
IHVERFTPVP SLLFNGIMAL IYLCVEDIFQ LINYYSFSYW FFVGLSIVGQ
410 420 430 440 450
LYLRWKEPDR PRPLKLSVFF PIVFCLCTIF LVAVPLYSDT INSLIGIAIA
460 470 480 490 500
LSGLPFYFLI IRVPEHKRPL YLRRIVGSAT RYLQVLCMSV AAEMDLEDGG
510
EMPKQRDPKS N
Length:511
Mass (Da):55,991
Last modified:January 24, 2001 - v2
<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:iA71D677B6B075894
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 are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V2L0G3V2L0_HUMAN
Y+L amino acid transporter 1
SLC7A7
106Annotation 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>
G3V4U1G3V4U1_HUMAN
Y+L amino acid transporter 1
SLC7A7
122Annotation 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>
G3V273G3V273_HUMAN
Y+L amino acid transporter 1
SLC7A7
116Annotation 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>
G3V2H8G3V2H8_HUMAN
Y+L amino acid transporter 1
SLC7A7
164Annotation 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>
G3V5W2G3V5W2_HUMAN
Y+L amino acid transporter 1
SLC7A7
114Annotation 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>
D6RFE5D6RFE5_HUMAN
Y+L amino acid transporter 1
SLC7A7
141Annotation 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>
G3V2K0G3V2K0_HUMAN
Y+L amino acid transporter 1
SLC7A7
310Annotation 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>
G3V4Z6G3V4Z6_HUMAN
Y+L amino acid transporter 1
SLC7A7
245Annotation 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>
H0YJ95H0YJ95_HUMAN
Y+L amino acid transporter 1
SLC7A7
168Annotation 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>
G3V362G3V362_HUMAN
Y+L amino acid transporter 1
SLC7A7
44Annotation 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>
There is more potential isoformShow all

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA95120 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAD62619 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0390925T → I in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833792EnsemblClinVar.1
Natural variantiVAR_03909336Missing in LPI; failed to induce cationic amino acid transport activity. 1 Publication1
Natural variantiVAR_03059550M → K in LPI; failed to induce cationic amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs386833811EnsemblClinVar.1
Natural variantiVAR_03909453S → L in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833793EnsemblClinVar.1
Natural variantiVAR_01026154G → V in LPI; failed to induce cationic amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs121908677EnsemblClinVar.1
Natural variantiVAR_03909591A → V1 PublicationCorresponds to variant dbSNP:rs11568438EnsemblClinVar.1
Natural variantiVAR_039096124L → P in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833814EnsemblClinVar.1
Natural variantiVAR_039097140A → P in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833815EnsemblClinVar.1
Natural variantiVAR_039098152F → L in LPI; moderately reduced cationic amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs386833816EnsemblClinVar.1
Natural variantiVAR_039099159R → C. Corresponds to variant dbSNP:rs11568437EnsemblClinVar.1
Natural variantiVAR_030596188T → I in LPI; failed to induce cationic amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs386833819EnsemblClinVar.1
Natural variantiVAR_039100191K → E in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833820EnsemblClinVar.1
Natural variantiVAR_030597238S → F in LPI. 2 PublicationsCorresponds to variant dbSNP:rs386833823EnsemblClinVar.1
Natural variantiVAR_039101251E → D in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833824EnsemblClinVar.1
Natural variantiVAR_039102261L → P in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833825EnsemblClinVar.1
Natural variantiVAR_030598333R → M in LPI. 2 PublicationsCorresponds to variant dbSNP:rs386833829EnsemblClinVar.1
Natural variantiVAR_010262334L → R in LPI; failed to induce cationic amino acid transport activity. 4 PublicationsCorresponds to variant dbSNP:rs72552272EnsemblClinVar.1
Natural variantiVAR_010999338G → D in LPI. 2 PublicationsCorresponds to variant dbSNP:rs386833795EnsemblClinVar.1
Natural variantiVAR_039103365N → Y in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833797EnsemblClinVar.1
Natural variantiVAR_011000386S → R in LPI; failed to induce cationic amino acid transport activity. 3 PublicationsCorresponds to variant dbSNP:rs386833799EnsemblClinVar.1
Natural variantiVAR_036609413P → S in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_030599489S → P in LPI. 2 PublicationsCorresponds to variant dbSNP:rs386833810EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF092032 mRNA Translation: AAC83706.1
AJ130718 mRNA Translation: CAA10198.1
Y18474 mRNA Translation: CAB40136.1
AB031537 Genomic DNA Translation: BAA95120.1 Sequence problems.
AB011263 mRNA Translation: BAB11849.1
AB020532 mRNA Translation: BAA87623.1
BX161519 mRNA Translation: CAD61952.1
BX248291 mRNA Translation: CAD62619.1 Different initiation.
AK314351 mRNA Translation: BAG36987.1
CH471078 Genomic DNA Translation: EAW66245.1
CH471078 Genomic DNA Translation: EAW66246.1
CH471078 Genomic DNA Translation: EAW66247.1
CH471078 Genomic DNA Translation: EAW66248.1
BC003062 mRNA Translation: AAH03062.1
BC010107 mRNA Translation: AAH10107.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS9574.1

NCBI Reference Sequences

More...
RefSeqi
NP_001119577.1, NM_001126105.2
NP_001119578.1, NM_001126106.2
XP_006720365.1, XM_006720302.1
XP_011535600.1, XM_011537298.2
XP_011535601.1, XM_011537299.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000285850; ENSP00000285850; ENSG00000155465
ENST00000397528; ENSP00000380662; ENSG00000155465
ENST00000397529; ENSP00000380663; ENSG00000155465
ENST00000397532; ENSP00000380666; ENSG00000155465
ENST00000555702; ENSP00000451881; ENSG00000155465
ENST00000674313; ENSP00000501493; ENSG00000155465

Database of genes from NCBI RefSeq genomes

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GeneIDi
9056

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9056

UCSC genome browser

More...
UCSCi
uc001wgr.5, human

<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
AF092032 mRNA Translation: AAC83706.1
AJ130718 mRNA Translation: CAA10198.1
Y18474 mRNA Translation: CAB40136.1
AB031537 Genomic DNA Translation: BAA95120.1 Sequence problems.
AB011263 mRNA Translation: BAB11849.1
AB020532 mRNA Translation: BAA87623.1
BX161519 mRNA Translation: CAD61952.1
BX248291 mRNA Translation: CAD62619.1 Different initiation.
AK314351 mRNA Translation: BAG36987.1
CH471078 Genomic DNA Translation: EAW66245.1
CH471078 Genomic DNA Translation: EAW66246.1
CH471078 Genomic DNA Translation: EAW66247.1
CH471078 Genomic DNA Translation: EAW66248.1
BC003062 mRNA Translation: AAH03062.1
BC010107 mRNA Translation: AAH10107.1
CCDSiCCDS9574.1
RefSeqiNP_001119577.1, NM_001126105.2
NP_001119578.1, NM_001126106.2
XP_006720365.1, XM_006720302.1
XP_011535600.1, XM_011537298.2
XP_011535601.1, XM_011537299.1

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi114518, 4 interactors
IntActiQ9UM01, 1 interactor
STRINGi9606.ENSP00000380666

Chemistry databases

DrugBankiDB08838, Agmatine
DB13146, Fluciclovine (18F)
DB00130, L-Glutamine

Protein family/group databases

TCDBi2.A.3.8.22, the amino acid-polyamine-organocation (apc) family

PTM databases

GlyGeniQ9UM01, 1 site
iPTMnetiQ9UM01
PhosphoSitePlusiQ9UM01

Genetic variation databases

BioMutaiSLC7A7
DMDMi12643378

Proteomic databases

jPOSTiQ9UM01
MassIVEiQ9UM01
MaxQBiQ9UM01
PaxDbiQ9UM01
PeptideAtlasiQ9UM01
PRIDEiQ9UM01
ProteomicsDBi85165

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
22283, 79 antibodies

The DNASU plasmid repository

More...
DNASUi
9056

Genome annotation databases

EnsembliENST00000285850; ENSP00000285850; ENSG00000155465
ENST00000397528; ENSP00000380662; ENSG00000155465
ENST00000397529; ENSP00000380663; ENSG00000155465
ENST00000397532; ENSP00000380666; ENSG00000155465
ENST00000555702; ENSP00000451881; ENSG00000155465
ENST00000674313; ENSP00000501493; ENSG00000155465
GeneIDi9056
KEGGihsa:9056
UCSCiuc001wgr.5, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9056
DisGeNETi9056

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SLC7A7
GeneReviewsiSLC7A7
HGNCiHGNC:11065, SLC7A7
HPAiENSG00000155465, Tissue enhanced (blood, intestine, kidney)
MalaCardsiSLC7A7
MIMi222700, phenotype
603593, gene
neXtProtiNX_Q9UM01
OpenTargetsiENSG00000155465
Orphaneti470, Lysinuric protein intolerance
PharmGKBiPA35925
VEuPathDBiHostDB:ENSG00000155465

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1287, Eukaryota
GeneTreeiENSGT00940000160134
HOGENOMiCLU_007946_3_0_1
InParanoidiQ9UM01
OMAiKIGQGYT
OrthoDBi867824at2759
PhylomeDBiQ9UM01
TreeFamiTF313355

Enzyme and pathway databases

PathwayCommonsiQ9UM01
ReactomeiR-HSA-210991, Basigin interactions
R-HSA-352230, Amino acid transport across the plasma membrane
R-HSA-5660862, Defective SLC7A7 causes lysinuric protein intolerance (LPI)
SABIO-RKiQ9UM01

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
9056, 4 hits in 1009 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SLC7A7, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SLC7A7

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

More...
GenomeRNAii
9056
PharosiQ9UM01, Tbio

Protein Ontology

More...
PROi
PR:Q9UM01
RNActiQ9UM01, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000155465, Expressed in monocyte and 185 other tissues
ExpressionAtlasiQ9UM01, baseline and differential
GenevisibleiQ9UM01, HS

Family and domain databases

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

MobiDB: a database of protein disorder and mobility annotations

More...
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 nameiYLAT1_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: Q9UM01
Secondary accession number(s): B2RAU0
, D3DS26, O95984, Q53XC1, Q86U07, Q9P2V5
<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: January 24, 2001
Last modified: September 29, 2021
This is version 187 of the entry and version 2 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

Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
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