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UniProtKB - Q695T7 (S6A19_HUMAN)

Entry version 133 (11 Dec 2019)
Sequence version 1 (13 Sep 2004)
Previous versions | rss
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Protein

Sodium-dependent neutral amino acid transporter B(0)AT1

Gene

SLC6A19

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

Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells (PubMed:18424768, PubMed:18484095, PubMed:19185582, PubMed:26240152). This uptake is sodium-dependent and chloride-independent (PubMed:19185582, PubMed:15286788). Requires CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity (PubMed:19185582, PubMed:18424768).5 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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, Symport, 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
R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters
R-HSA-5619044 Defective SLC6A19 causes Hartnup disorder (HND)
R-HSA-5659735 Defective SLC6A19 causes Hartnup disorder (HND)

Protein family/group databases

Transport Classification Database

More...TCDBi		2.A.22.6.3 the neurotransmitter:sodium symporter (nss) 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:
Sodium-dependent neutral amino acid transporter B(0)AT1
Alternative name(s):
Solute carrier family 6 member 19
System B(0) neutral amino acid transporter AT1
<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:SLC6A19
Synonyms:B0AT1
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000174358.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:27960 SLC6A19

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608893 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q695T7

<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 – 41CytoplasmicSequence analysisAdd BLAST41
<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>Transmembranei42 – 62Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini63 – 67ExtracellularSequence analysis5
Transmembranei68 – 88Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini89 – 120CytoplasmicSequence analysisAdd BLAST32
Transmembranei121 – 141Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini142 – 192ExtracellularSequence analysisAdd BLAST51
Transmembranei193 – 213Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini214 – 221CytoplasmicSequence analysis8
Transmembranei222 – 242Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini243 – 268ExtracellularSequence analysisAdd BLAST26
Transmembranei269 – 289Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini290 – 304CytoplasmicSequence analysisAdd BLAST15
Transmembranei305 – 325Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini326 – 413ExtracellularSequence analysisAdd BLAST88
Transmembranei414 – 434Helical; Name=8Sequence analysisAdd BLAST21
Topological domaini435 – 456CytoplasmicSequence analysisAdd BLAST22
Transmembranei457 – 477Helical; Name=9Sequence analysisAdd BLAST21
Topological domaini478 – 490ExtracellularSequence analysisAdd BLAST13
Transmembranei491 – 511Helical; Name=10Sequence analysisAdd BLAST21
Topological domaini512 – 531CytoplasmicSequence analysisAdd BLAST20
Transmembranei532 – 552Helical; Name=11Sequence analysisAdd BLAST21
Topological domaini553 – 581ExtracellularSequence analysisAdd BLAST29
Transmembranei582 – 602Helical; Name=12Sequence analysisAdd BLAST21
Topological domaini603 – 634CytoplasmicSequence 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

Hartnup disorder (HND)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport noted for its clinical variability. First described in 1956, HND is characterized by increases in the urinary and intestinal excretion of neutral amino acids. Individuals with typical Hartnup aminoaciduria may be asymptomatic, some develop a photosensitive pellagra-like rash, attacks of cerebellar ataxia and other neurological or psychiatric features. Although the definition of HND was originally based on clinical and biochemical abnormalities, its marked clinical heterogeneity has led to it being known as a disorder with a consistent pathognomonic neutral hyperaminoaciduria.
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_02331457R → C in HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; loss of surface expression when expressed alone or coexpressed with CLTRN or ACE2. 2 PublicationsCorresponds to variant dbSNP:rs762989809Ensembl.1
Natural variantiVAR_08107066G → R in HND; abolishes amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs1251095994Ensembl.1
Natural variantiVAR_08107169A → T in HND; increases cell membrane localization in presence of ACE2 or CLTRN; does not affect interaction with ACE2; amino acid transport activity is not actived in presence of ACE2 or CLTRN. 1 Publication1
Natural variantiVAR_08107293G → R in HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; increases surface cell expression when expressed alone or coexpressed with CLTRN or ACE2. 2 PublicationsCorresponds to variant dbSNP:rs757679627Ensembl.1
Natural variantiVAR_023315173D → N in HND; population allele frequency among Europeans is 0.007; reduced transport activity by 50% but does not completely inactivates the transporter; coexpression with ACE2 increased the transport rate whereas coexpression with CLTRN has the opposite effect; does not affect interaction with ACE2; decreased cell membrane localization in presence of CLTRN. 2 PublicationsCorresponds to variant dbSNP:rs121434346EnsemblClinVar.1
Natural variantiVAR_081073178 – 634Missing in HND; abolishes amino acid transport activity. 1 PublicationAdd BLAST457
Natural variantiVAR_023316240R → Q in HND; does not affect amino acid transport activity when expressed alone; decreases amino acid transport activity in presence of ACE2 or CLTRN; decreased surface cell expression when expressed with CLTRN or ACE2. 4 PublicationsCorresponds to variant dbSNP:rs758492838Ensembl.1
Natural variantiVAR_023317242L → P in HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; loss of surface expression when expressed coexpressed with CLTRN or ACE2. 2 PublicationsCorresponds to variant dbSNP:rs200745023Ensembl.1
Natural variantiVAR_081074265P → L in HND; does not affect interaction with ACE2; coexpression with ACE2 increased the transport rate whereas coexpression with CLTRN has the opposite effect. 1 PublicationCorresponds to variant dbSNP:rs148139045Ensembl.1
Natural variantiVAR_081075284G → R in HND; abolishes amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs200842846Ensembl.1
Natural variantiVAR_081076328R → C in HND; abolishes amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs142164435Ensembl.1
Natural variantiVAR_081077405E → K in HND; abolishes amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs765501634Ensembl.1
Natural variantiVAR_023319501E → K in HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; loss of surface expression when expressed alone or coexpressed with CLTRN or ACE2. 2 PublicationsCorresponds to variant dbSNP:rs1236852017Ensembl.1
Natural variantiVAR_081078517D → G in HND; abolishes amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs745524993Ensembl.1
Natural variantiVAR_081079579P → L in HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; loss of surface expression when expressed alone or coexpressed with CLTRN or ACE2. 1 PublicationCorresponds to variant dbSNP:rs751554174Ensembl.1
Hyperglycinuria (HG)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for hyperglycinuria.
Disease descriptionA condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones.
Related information in OMIM
Iminoglycinuria (IG)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG phenotype in some families.
Disease descriptionA disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine.
Related information in OMIM

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		340024

MalaCards human disease database

More...MalaCardsi		SLC6A19
MIMi138500 phenotype
234500 phenotype
242600 phenotype

Open Targets

More...OpenTargetsi		ENSG00000174358

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

More...Orphaneti		2116 Hartnup disease
42062 Iminoglycinuria

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134968815

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q695T7 Tchem

Chemistry databases

DrugCentral

More...DrugCentrali		Q695T7

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		939

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SLC6A19

Domain mapping of disease mutations (DMDM)

More...DMDMi		73919285

<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_00002148091 – 634Sodium-dependent neutral amino acid transporter B(0)AT1Add BLAST634

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 residuei17PhosphoserineBy 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>Glycosylationi158N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi182N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi258N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi354N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi368N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei627PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q695T7

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

More...PaxDbi		Q695T7

PeptideAtlas

More...PeptideAtlasi		Q695T7

PRoteomics IDEntifications database

More...PRIDEi		Q695T7

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		66151

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q695T7

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

More...PhosphoSitePlusi		Q695T7

<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

Robust expression in kidney and small intestine, with minimal expression in pancreas (PubMed:18424768, PubMed:15286787). Also expressed in stomach, liver, duodenum, ileocecum, colon and prostate. Not detected in testis, whole brain, cerebellum, fetal liver, spleen, skeletal muscle, uterus, heart or lung.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000174358 Expressed in 94 organ(s), highest expression level in kidney epithelium

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q695T7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q695T7 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA037415
HPA043207

<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

Interacts in a tissue-specific manner with ACE2 in small intestine and with CLTRN in the kidney (By similarity).

Interacts with CLTRN; this interaction is required for trafficking of SLC6A19 to the plasma membrane and for its catalytic activation in kidneys (By similarity).

Interacts with ACE2; this interaction is required for trafficking of SLC6A19 to the plasma membrane and for its catalytic activation in intestine (By similarity).

Interacts with ANPEP; the interaction positively regulates its amino acid transporter activity (By similarity).

By similarity

Protein-protein interaction databases

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000305302

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q695T7 protein

<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

Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A19 subfamily. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3659 Eukaryota
COG0733 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154896

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000116406

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q695T7

KEGG Orthology (KO)

More...KOi		K05334

Identification of Orthologs from Complete Genome Data

More...OMAi		TVDYFWY

Database of Orthologous Groups

More...OrthoDBi		526256at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q695T7

TreeFam database of animal gene trees

More...TreeFami		TF343812

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000175 Na/ntran_symport
IPR002438 Neutral_aa_SLC6
IPR037272 SNS_sf

The PANTHER Classification System

More...PANTHERi		PTHR11616 PTHR11616, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00209 SNF, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00176 NANEUSMPORT
PR01206 ORPHTRNSPORT

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF161070 SSF161070, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00610 NA_NEUROTRAN_SYMP_1, 1 hit
PS50267 NA_NEUROTRAN_SYMP_3, 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

Q695T7-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVRLVLPNPG LDARIPSLAE LETIEQEEAS SRPKWDNKAQ YMLTCLGFCV 
        60         70         80         90        100
GLGNVWRFPY LCQSHGGGAF MIPFLILLVL EGIPLLYLEF AIGQRLRRGS 
       110        120        130        140        150
LGVWSSIHPA LKGLGLASML TSFMVGLYYN TIISWIMWYL FNSFQEPLPW 
       160        170        180        190        200
SDCPLNENQT GYVDECARSS PVDYFWYRET LNISTSISDS GSIQWWMLLC 
       210        220        230        240        250
LACAWSVLYM CTIRGIETTG KAVYITSTLP YVVLTIFLIR GLTLKGATNG 
       260        270        280        290        300
IVFLFTPNVT ELAQPDTWLD AGAQVFFSFS LAFGGLISFS SYNSVHNNCE 
       310        320        330        340        350
KDSVIVSIIN GFTSVYVAIV VYSVIGFRAT QRYDDCFSTN ILTLINGFDL 
       360        370        380        390        400
PEGNVTQENF VDMQQRCNAS DPAAYAQLVF QTCDINAFLS EAVEGTGLAF 
       410        420        430        440        450
IVFTEAITKM PLSPLWSVLF FIMLFCLGLS SMFGNMEGVV VPLQDLRVIP 
       460        470        480        490        500
PKWPKEVLTG LICLGTFLIG FIFTLNSGQY WLSLLDSYAG SIPLLIIAFC 
       510        520        530        540        550
EMFSVVYVYG VDRFNKDIEF MIGHKPNIFW QVTWRVVSPL LMLIIFLFFF 
       560        570        580        590        600
VVEVSQELTY SIWDPGYEEF PKSQKISYPN WVYVVVVIVA GVPSLTIPGY 
       610        620        630 
AIYKLIRNHC QKPGDHQGLV STLSTASMNG DLKY
Length:634
Mass (Da):71,110
Last modified:September 13, 2004 - 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:iB85EFB02F9D53BB9
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
E9PD72E9PD72_HUMAN
Transporter
SLC6A19
354Annotation score:

Annotation score:2 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02331457R → C in HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; loss of surface expression when expressed alone or coexpressed with CLTRN or ACE2. 2 PublicationsCorresponds to variant dbSNP:rs762989809Ensembl.1
Natural variantiVAR_08107066G → R in HND; abolishes amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs1251095994Ensembl.1
Natural variantiVAR_08107169A → T in HND; increases cell membrane localization in presence of ACE2 or CLTRN; does not affect interaction with ACE2; amino acid transport activity is not actived in presence of ACE2 or CLTRN. 1 Publication1
Natural variantiVAR_08107293G → R in HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; increases surface cell expression when expressed alone or coexpressed with CLTRN or ACE2. 2 PublicationsCorresponds to variant dbSNP:rs757679627Ensembl.1
Natural variantiVAR_023315173D → N in HND; population allele frequency among Europeans is 0.007; reduced transport activity by 50% but does not completely inactivates the transporter; coexpression with ACE2 increased the transport rate whereas coexpression with CLTRN has the opposite effect; does not affect interaction with ACE2; decreased cell membrane localization in presence of CLTRN. 2 PublicationsCorresponds to variant dbSNP:rs121434346EnsemblClinVar.1
Natural variantiVAR_081073178 – 634Missing in HND; abolishes amino acid transport activity. 1 PublicationAdd BLAST457
Natural variantiVAR_023316240R → Q in HND; does not affect amino acid transport activity when expressed alone; decreases amino acid transport activity in presence of ACE2 or CLTRN; decreased surface cell expression when expressed with CLTRN or ACE2. 4 PublicationsCorresponds to variant dbSNP:rs758492838Ensembl.1
Natural variantiVAR_023317242L → P in HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; loss of surface expression when expressed coexpressed with CLTRN or ACE2. 2 PublicationsCorresponds to variant dbSNP:rs200745023Ensembl.1
Natural variantiVAR_023318252V → I Does not affect cell membrane localization; does not affect amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs7732589EnsemblClinVar.1
Natural variantiVAR_081074265P → L in HND; does not affect interaction with ACE2; coexpression with ACE2 increased the transport rate whereas coexpression with CLTRN has the opposite effect. 1 PublicationCorresponds to variant dbSNP:rs148139045Ensembl.1
Natural variantiVAR_081075284G → R in HND; abolishes amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs200842846Ensembl.1
Natural variantiVAR_081076328R → C in HND; abolishes amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs142164435Ensembl.1
Natural variantiVAR_081077405E → K in HND; abolishes amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs765501634Ensembl.1
Natural variantiVAR_023319501E → K in HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; loss of surface expression when expressed alone or coexpressed with CLTRN or ACE2. 2 PublicationsCorresponds to variant dbSNP:rs1236852017Ensembl.1
Natural variantiVAR_081078517D → G in HND; abolishes amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs745524993Ensembl.1
Natural variantiVAR_081079579P → L in HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; loss of surface expression when expressed alone or coexpressed with CLTRN or ACE2. 1 PublicationCorresponds to variant dbSNP:rs751554174Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AY596807 mRNA Translation: AAT42127.1
AY591756 mRNA Translation: AAT66171.1
AK290811 mRNA Translation: BAF83500.1
CH471102 Genomic DNA Translation: EAX08175.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34130.1

NCBI Reference Sequences

More...RefSeqi		NP_001003841.1, NM_001003841.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000304460; ENSP00000305302; ENSG00000174358

Database of genes from NCBI RefSeq genomes

More...GeneIDi		340024

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:340024

UCSC genome browser

More...UCSCi		uc003jbw.5 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
AY596807 mRNA Translation: AAT42127.1
AY591756 mRNA Translation: AAT66171.1
AK290811 mRNA Translation: BAF83500.1
CH471102 Genomic DNA Translation: EAX08175.1
CCDSiCCDS34130.1
RefSeqiNP_001003841.1, NM_001003841.2

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

STRINGi9606.ENSP00000305302

Chemistry databases

DrugCentraliQ695T7
GuidetoPHARMACOLOGYi939

Protein family/group databases

TCDBi2.A.22.6.3 the neurotransmitter:sodium symporter (nss) family

PTM databases

iPTMnetiQ695T7
PhosphoSitePlusiQ695T7

Polymorphism and mutation databases

BioMutaiSLC6A19
DMDMi73919285

Proteomic databases

MassIVEiQ695T7
PaxDbiQ695T7
PeptideAtlasiQ695T7
PRIDEiQ695T7
ProteomicsDBi66151

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		340024

Genome annotation databases

EnsembliENST00000304460; ENSP00000305302; ENSG00000174358
GeneIDi340024
KEGGihsa:340024
UCSCiuc003jbw.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		340024
DisGeNETi340024
EuPathDBiHostDB:ENSG00000174358.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		SLC6A19
HGNCiHGNC:27960 SLC6A19
HPAiHPA037415
HPA043207
MalaCardsiSLC6A19
MIMi138500 phenotype
234500 phenotype
242600 phenotype
608893 gene
neXtProtiNX_Q695T7
OpenTargetsiENSG00000174358
Orphaneti2116 Hartnup disease
42062 Iminoglycinuria
PharmGKBiPA134968815

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3659 Eukaryota
COG0733 LUCA
GeneTreeiENSGT00940000154896
HOGENOMiHOG000116406
InParanoidiQ695T7
KOiK05334
OMAiTVDYFWY
OrthoDBi526256at2759
PhylomeDBiQ695T7
TreeFamiTF343812

Enzyme and pathway databases

ReactomeiR-HSA-352230 Amino acid transport across the plasma membrane
R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters
R-HSA-5619044 Defective SLC6A19 causes Hartnup disorder (HND)
R-HSA-5659735 Defective SLC6A19 causes Hartnup disorder (HND)

Miscellaneous databases

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

More...ChiTaRSi		SLC6A19 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SLC6A19

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

More...GenomeRNAii		340024
PharosiQ695T7 Tchem

Protein Ontology

More...PROi		PR:Q695T7
RNActiQ695T7 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000174358 Expressed in 94 organ(s), highest expression level in kidney epithelium
ExpressionAtlasiQ695T7 baseline and differential
GenevisibleiQ695T7 HS

Family and domain databases

InterProiView protein in InterPro
IPR000175 Na/ntran_symport
IPR002438 Neutral_aa_SLC6
IPR037272 SNS_sf
PANTHERiPTHR11616 PTHR11616, 1 hit
PfamiView protein in Pfam
PF00209 SNF, 1 hit
PRINTSiPR00176 NANEUSMPORT
PR01206 ORPHTRNSPORT
SUPFAMiSSF161070 SSF161070, 1 hit
PROSITEiView protein in PROSITE
PS00610 NA_NEUROTRAN_SYMP_1, 1 hit
PS50267 NA_NEUROTRAN_SYMP_3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

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 nameiS6A19_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: Q695T7
Secondary accession number(s): A8K446
<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: August 30, 2005
Last sequence update: September 13, 2004
Last modified: December 11, 2019
This is version 133 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

Reference proteome

Documents

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