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Entry version 170 (16 Oct 2019)
Sequence version 2 (20 Feb 2007)
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Protein

Cationic amino acid transporter 2

Gene

SLC7A2

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

Functions as permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine); the affinity for its substrates differs between isoforms created by alternative splicing. Isoform 1 functions as permease that mediates the transport of the cationic amino acids (arginine, lysine and ornithine), and it has much higher affinity for arginine than isoform 2. Isoform 2 functions as low-affinity, high capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) (PubMed:9174363). May play a role in classical or alternative activation of macrophages via its role in arginine transport.By similarity1 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

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-352230 Amino acid transport across the plasma membrane

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.3.3.8 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:
Cationic amino acid transporter 2
Short name:
CAT-2
Short name:
CAT2
Alternative name(s):
Low affinity cationic amino acid transporter 2
Solute carrier family 7 member 2
<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:SLC7A2
Synonyms:ATRC2, CAT2
<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 8

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11060 SLC7A2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601872 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P52569

<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 – 37CytoplasmicSequence analysisAdd BLAST37
<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>Transmembranei38 – 59HelicalSequence analysisAdd BLAST22
Topological domaini60 – 63ExtracellularSequence analysis4
Transmembranei64 – 84HelicalSequence analysisAdd BLAST21
Topological domaini85 – 104CytoplasmicSequence analysisAdd BLAST20
Transmembranei105 – 125HelicalSequence analysisAdd BLAST21
Topological domaini126 – 163ExtracellularSequence analysisAdd BLAST38
Transmembranei164 – 184HelicalSequence analysisAdd BLAST21
Topological domaini185 – 192CytoplasmicSequence analysis8
Transmembranei193 – 213HelicalSequence analysisAdd BLAST21
Topological domaini214 – 248ExtracellularSequence analysisAdd BLAST35
Transmembranei249 – 269HelicalSequence analysisAdd BLAST21
Topological domaini270 – 289CytoplasmicSequence analysisAdd BLAST20
Transmembranei290 – 309HelicalSequence analysisAdd BLAST20
Topological domaini310 – 339ExtracellularSequence analysisAdd BLAST30
Transmembranei340 – 360HelicalSequence analysisAdd BLAST21
Topological domaini361 – 386CytoplasmicSequence analysisAdd BLAST26
Transmembranei387 – 407HelicalSequence analysisAdd BLAST21
Topological domaini408 – 410ExtracellularSequence analysis3
Transmembranei411 – 431HelicalSequence analysisAdd BLAST21
Topological domaini432 – 490CytoplasmicSequence analysisAdd BLAST59
Transmembranei491 – 511HelicalSequence analysisAdd BLAST21
Topological domaini512 – 524ExtracellularSequence analysisAdd BLAST13
Transmembranei525 – 549HelicalSequence analysisAdd BLAST25
Topological domaini550 – 557CytoplasmicSequence analysis8
Transmembranei558 – 578HelicalSequence analysisAdd BLAST21
Topological domaini579 – 582ExtracellularSequence analysis4
Transmembranei583 – 603HelicalSequence analysisAdd BLAST21
Topological domaini604 – 658CytoplasmicSequence analysisAdd BLAST55

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
6542

Open Targets

More...
OpenTargetsi
ENSG00000003989

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35920

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P52569

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00123 L-Lysine
DB00129 Ornithine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC7A2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
126302539

<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_00000542641 – 658Cationic amino acid transporter 2Add BLAST658

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 residuei24PhosphoserineCombined sources1
Modified residuei28PhosphothreonineCombined sources1
<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>Glycosylationi157N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi227N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi239N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei446PhosphoserineCombined sources1
Modified residuei455PhosphoserineCombined sources1
Modified residuei464PhosphoserineCombined sources1
Modified residuei646PhosphoserineCombined sources1
Modified residuei647PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P52569

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P52569

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P52569

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P52569

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

More...
PaxDbi
P52569

PeptideAtlas

More...
PeptideAtlasi
P52569

PRoteomics IDEntifications database

More...
PRIDEi
P52569

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
56491 [P52569-1]
56492 [P52569-2]
56493 [P52569-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P52569

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

More...
PhosphoSitePlusi
P52569

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P52569

<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 at high levels in the skeletal muscle, placenta and ovary. Expressed at intermediate levels in the liver and pancreas and at low levels in the kidney and heart.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000003989 Expressed in 185 organ(s), highest expression level in skeletal muscle tissue of rectus abdominis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P52569 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P52569 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA009277

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112433, 37 interactors

Protein interaction database and analysis system

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IntActi
P52569, 23 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000004531

<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
KOG1286 Eukaryota
COG0531 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160440

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000250623

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P52569

KEGG Orthology (KO)

More...
KOi
K13864

Identification of Orthologs from Complete Genome Data

More...
OMAi
WISFGVW

Database of Orthologous Groups

More...
OrthoDBi
439017at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P52569

TreeFam database of animal gene trees

More...
TreeFami
TF315212

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002293 AA/rel_permease1
IPR004755 Cat_AA_permease
IPR029485 CAT_C

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13520 AA_permease_2, 1 hit
PF13906 AA_permease_C, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00906 2A0303, 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>Sequences (3+)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 describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P52569-1) [UniParc]FASTAAdd to basket
Also known as: CAT-2B

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MIPCRAALTF ARCLIRRKIV TLDSLEDTKL CRCLSTMDLI ALGVGSTLGA
60 70 80 90 100
GVYVLAGEVA KADSGPSIVV SFLIAALASV MAGLCYAEFG ARVPKTGSAY
110 120 130 140 150
LYTYVTVGEL WAFITGWNLI LSYVIGTSSV ARAWSGTFDE LLSKQIGQFL
160 170 180 190 200
RTYFRMNYTG LAEYPDFFAV CLILLLAGLL SFGVKESAWV NKVFTAVNIL
210 220 230 240 250
VLLFVMVAGF VKGNVANWKI SEEFLKNISA SAREPPSENG TSIYGAGGFM
260 270 280 290 300
PYGFTGTLAG AATCFYAFVG FDCIATTGEE VRNPQKAIPI GIVTSLLVCF
310 320 330 340 350
MAYFGVSAAL TLMMPYYLLD EKSPLPVAFE YVGWGPAKYV VAAGSLCALS
360 370 380 390 400
TSLLGSIFPM PRVIYAMAED GLLFKCLAQI NSKTKTPIIA TLSSGAVAAL
410 420 430 440 450
MAFLFDLKAL VDMMSIGTLM AYSLVAACVL ILRYQPGLSY DQPKCSPEKD
460 470 480 490 500
GLGSSPRVTS KSESQVTMLQ RQGFSMRTLF CPSLLPTQQS ASLVSFLVGF
510 520 530 540 550
LAFLVLGLSV LTTYGVHAIT RLEAWSLALL ALFLVLFVAI VLTIWRQPQN
560 570 580 590 600
QQKVAFMVPF LPFLPAFSIL VNIYLMVQLS ADTWVRFSIW MAIGFLIYFS
610 620 630 640 650
YGIRHSLEGH LRDENNEEDA YPDNVHAAAE EKSAIQANDH HPRNLSSPFI

FHEKTSEF
Length:658
Mass (Da):71,673
Last modified:February 20, 2007 - 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:i633FD86A333E9208
GO
Isoform 2 (identifier: P52569-2) [UniParc]FASTAAdd to basket
Also known as: CAT-2A

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MKIETSGYNSDKLICRGFIGTPAPPVCDSKFLLSPSSDVRM
     357-398: IFPMPRVIYA...IATLSSGAVA → MFPLPRILFA...AATLTAGVIS

Show »
Length:697
Mass (Da):76,024
Checksum:iA5753DDB8FF1FFFA
GO
Isoform 3 (identifier: P52569-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MKIETSGYNSDKLICRGFIGTPAPPVCDSKFLLSPSSDVRM

Note: No experimental confirmation available.
Show »
Length:698
Mass (Da):75,986
Checksum:i6ED2F36C607015C0
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
A0A1W2PR06A0A1W2PR06_HUMAN
Cationic amino acid transporter 2
SLC7A2
683Annotation 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>

<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

Isoform 2 : The sequence AAB62810 differs from that shown. Reason: Frameshift.Curated
The sequence AAH69648 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAI04906 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAI13662 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAI43584 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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 conflicti134W → G in BAA06271 (PubMed:8954799).Curated1
Sequence conflicti364I → N in BAA06271 (PubMed:8954799).Curated1
Sequence conflicti520T → Y in BAA06271 (PubMed:8954799).Curated1
Sequence conflicti552Q → R in BAA06271 (PubMed:8954799).Curated1
Sequence conflicti566A → T in BAA06271 (PubMed:8954799).Curated1
Sequence conflicti568S → T in BAA06271 (PubMed:8954799).Curated1
Sequence conflicti605H → R in CAD89909 (PubMed:17974005).Curated1
Sequence conflicti619D → V in CAD89909 (PubMed:17974005).Curated1

Natural variant

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_03079920V → M. Corresponds to variant dbSNP:rs12680645Ensembl.1
Natural variantiVAR_030800376C → F. Corresponds to variant dbSNP:rs1134975Ensembl.1
Natural variantiVAR_030801531A → T2 PublicationsCorresponds to variant dbSNP:rs62622371Ensembl.1
Natural variantiVAR_058414547Q → L. Corresponds to variant dbSNP:rs1981498Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0373541M → MKIETSGYNSDKLICRGFIG TPAPPVCDSKFLLSPSSDVR M in isoform 2 and isoform 3. 2 Publications1
Alternative sequenceiVSP_023354357 – 398IFPMP…SGAVA → MFPLPRILFAMARDGLLFRF LARVSKRQSPVAATLTAGVI S in isoform 2. 2 PublicationsAdd BLAST42

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

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DDBJi
Links Updated
D29990 mRNA Translation: BAA06271.1
U76368 mRNA Translation: AAB62810.1 Frameshift.
U76369 mRNA Translation: AAB62811.1
AB020863 Genomic DNA No translation available.
CH471080 Genomic DNA Translation: EAW63813.1
BC069648 mRNA Translation: AAH69648.1 Different initiation.
BC104905 mRNA Translation: AAI04906.1 Different initiation.
BC113661 mRNA Translation: AAI13662.1 Different initiation.
BC143583 mRNA Translation: AAI43584.1 Different initiation.
AL832016 mRNA Translation: CAD89909.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34852.1 [P52569-1]
CCDS55203.1 [P52569-3]
CCDS6002.2 [P52569-2]

NCBI Reference Sequences

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RefSeqi
NP_001008539.3, NM_001008539.3 [P52569-1]
NP_001158243.1, NM_001164771.1 [P52569-3]
NP_003037.4, NM_003046.5 [P52569-2]
XP_005273667.1, XM_005273610.4
XP_005273668.1, XM_005273611.4 [P52569-1]
XP_005273669.1, XM_005273612.4 [P52569-1]
XP_016869235.1, XM_017013746.1 [P52569-1]
XP_016869236.1, XM_017013747.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000004531; ENSP00000004531; ENSG00000003989 [P52569-3]
ENST00000398090; ENSP00000381164; ENSG00000003989 [P52569-2]
ENST00000470360; ENSP00000419873; ENSG00000003989 [P52569-2]
ENST00000494857; ENSP00000419140; ENSG00000003989 [P52569-1]
ENST00000522656; ENSP00000430464; ENSG00000003989 [P52569-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6542

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6542

UCSC genome browser

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UCSCi
uc011kyc.3 human [P52569-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
D29990 mRNA Translation: BAA06271.1
U76368 mRNA Translation: AAB62810.1 Frameshift.
U76369 mRNA Translation: AAB62811.1
AB020863 Genomic DNA No translation available.
CH471080 Genomic DNA Translation: EAW63813.1
BC069648 mRNA Translation: AAH69648.1 Different initiation.
BC104905 mRNA Translation: AAI04906.1 Different initiation.
BC113661 mRNA Translation: AAI13662.1 Different initiation.
BC143583 mRNA Translation: AAI43584.1 Different initiation.
AL832016 mRNA Translation: CAD89909.1
CCDSiCCDS34852.1 [P52569-1]
CCDS55203.1 [P52569-3]
CCDS6002.2 [P52569-2]
RefSeqiNP_001008539.3, NM_001008539.3 [P52569-1]
NP_001158243.1, NM_001164771.1 [P52569-3]
NP_003037.4, NM_003046.5 [P52569-2]
XP_005273667.1, XM_005273610.4
XP_005273668.1, XM_005273611.4 [P52569-1]
XP_005273669.1, XM_005273612.4 [P52569-1]
XP_016869235.1, XM_017013746.1 [P52569-1]
XP_016869236.1, XM_017013747.1

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

BioGridi112433, 37 interactors
IntActiP52569, 23 interactors
STRINGi9606.ENSP00000004531

Chemistry databases

DrugBankiDB00123 L-Lysine
DB00129 Ornithine

Protein family/group databases

TCDBi2.A.3.3.8 the amino acid-polyamine-organocation (apc) family

PTM databases

iPTMnetiP52569
PhosphoSitePlusiP52569
SwissPalmiP52569

Polymorphism and mutation databases

BioMutaiSLC7A2
DMDMi126302539

Proteomic databases

EPDiP52569
jPOSTiP52569
MassIVEiP52569
MaxQBiP52569
PaxDbiP52569
PeptideAtlasiP52569
PRIDEiP52569
ProteomicsDBi56491 [P52569-1]
56492 [P52569-2]
56493 [P52569-3]

Genome annotation databases

EnsembliENST00000004531; ENSP00000004531; ENSG00000003989 [P52569-3]
ENST00000398090; ENSP00000381164; ENSG00000003989 [P52569-2]
ENST00000470360; ENSP00000419873; ENSG00000003989 [P52569-2]
ENST00000494857; ENSP00000419140; ENSG00000003989 [P52569-1]
ENST00000522656; ENSP00000430464; ENSG00000003989 [P52569-1]
GeneIDi6542
KEGGihsa:6542
UCSCiuc011kyc.3 human [P52569-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6542
DisGeNETi6542

GeneCards: human genes, protein and diseases

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GeneCardsi
SLC7A2
HGNCiHGNC:11060 SLC7A2
HPAiHPA009277
MIMi601872 gene
neXtProtiNX_P52569
OpenTargetsiENSG00000003989
PharmGKBiPA35920

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1286 Eukaryota
COG0531 LUCA
GeneTreeiENSGT00940000160440
HOGENOMiHOG000250623
InParanoidiP52569
KOiK13864
OMAiWISFGVW
OrthoDBi439017at2759
PhylomeDBiP52569
TreeFamiTF315212

Enzyme and pathway databases

ReactomeiR-HSA-352230 Amino acid transport across the plasma membrane

Miscellaneous databases

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

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ChiTaRSi
SLC7A2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SLC7A2

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

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GenomeRNAii
6542
PharosiP52569

Protein Ontology

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PROi
PR:P52569

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000003989 Expressed in 185 organ(s), highest expression level in skeletal muscle tissue of rectus abdominis
ExpressionAtlasiP52569 baseline and differential
GenevisibleiP52569 HS

Family and domain databases

InterProiView protein in InterPro
IPR002293 AA/rel_permease1
IPR004755 Cat_AA_permease
IPR029485 CAT_C
PfamiView protein in Pfam
PF13520 AA_permease_2, 1 hit
PF13906 AA_permease_C, 1 hit
TIGRFAMsiTIGR00906 2A0303, 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 nameiCTR2_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: P52569
Secondary accession number(s): B7ZL54
, O15291, O15292, Q14CQ6, Q6NSZ7, Q86TC6
<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: October 1, 1996
Last sequence update: February 20, 2007
Last modified: October 16, 2019
This is version 170 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
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