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Entry version 145 (16 Oct 2019)
Sequence version 1 (01 Oct 2000)
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Protein

Sodium- and chloride-dependent transporter XTRP3

Gene

SLC6A20

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

Mediates the calcium-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and pipecolate as well as N-methylated amino acids. Involved in the transport of glycine.2 Publications

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

GO - Biological processi

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

Biological processAmino-acid transport, 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-5619101 Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
R-HSA-5660686 Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.22.6.8 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- and chloride-dependent transporter XTRP3
Alternative name(s):
Sodium/imino-acid transporter 1
Solute carrier family 6 member 20
Transporter rB21A homolog
<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:SLC6A20
Synonyms:SIT1, XT3, XTRP3
<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 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30927 SLC6A20

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605616 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NP91

<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 – 5CytoplasmicSequence analysis5
<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>Transmembranei6 – 26Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini27 – 42ExtracellularSequence analysisAdd BLAST16
Transmembranei43 – 63Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini64 – 79CytoplasmicSequence analysisAdd BLAST16
Transmembranei80 – 100Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini101 – 165ExtracellularSequence analysisAdd BLAST65
Transmembranei166 – 186Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini187 – 194CytoplasmicSequence analysis8
Transmembranei195 – 215Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini216 – 241ExtracellularSequence analysisAdd BLAST26
Transmembranei242 – 262Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini263 – 276CytoplasmicSequence analysisAdd BLAST14
Transmembranei277 – 297Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini298 – 389ExtracellularSequence analysisAdd BLAST92
Transmembranei390 – 410Helical; Name=8Sequence analysisAdd BLAST21
Topological domaini411 – 431CytoplasmicSequence analysisAdd BLAST21
Transmembranei432 – 452Helical; Name=9Sequence analysisAdd BLAST21
Topological domaini453 – 465ExtracellularSequence analysisAdd BLAST13
Transmembranei466 – 486Helical; Name=10Sequence analysisAdd BLAST21
Topological domaini487 – 504CytoplasmicSequence analysisAdd BLAST18
Transmembranei505 – 525Helical; Name=11Sequence analysisAdd BLAST21
Topological domaini526 – 554ExtracellularSequence analysisAdd BLAST29
Transmembranei555 – 575Helical; Name=12Sequence analysisAdd BLAST21
Topological domaini576 – 592CytoplasmicSequence analysisAdd BLAST17

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

Hyperglycinuria (HG)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
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 is caused by mutations affecting the gene represented in this entry. Haploinsufficiency of SLC6A20 combined with deficiency of the neutral amino acid transporter SLC6A19 or partially inactivating mutations in SLC36A2, is 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

Organism-specific databases

DisGeNET

More...
DisGeNETi
54716

MalaCards human disease database

More...
MalaCardsi
SLC6A20
MIMi138500 phenotype
242600 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000163817

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

More...
Orphaneti
42062 Iminoglycinuria

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134865308

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NP91

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC6A20

Domain mapping of disease mutations (DMDM)

More...
DMDMi
46397768

<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_00002148121 – 592Sodium- and chloride-dependent transporter XTRP3Add BLAST592

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Glycosylationi131N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi357N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NP91

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

More...
PaxDbi
Q9NP91

PeptideAtlas

More...
PeptideAtlasi
Q9NP91

PRoteomics IDEntifications database

More...
PRIDEi
Q9NP91

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
81934 [Q9NP91-1]
81935 [Q9NP91-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NP91

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

More...
PhosphoSitePlusi
Q9NP91

<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

Kidney and small intestine. Expressed in the S3 segment of the proximal tubule.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000163817 Expressed in 110 organ(s), highest expression level in pigmented layer of retina

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NP91 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NP91 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA029873

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120108, 28 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NP91, 8 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000346298

<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
KOG3659 Eukaryota
COG0733 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155873

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000116406

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NP91

KEGG Orthology (KO)

More...
KOi
K05048

Identification of Orthologs from Complete Genome Data

More...
OMAi
SFIVYTE

Database of Orthologous Groups

More...
OrthoDBi
547281at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NP91

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
PS00754 NA_NEUROTRAN_SYMP_2, 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>Sequences (2+)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 2 <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 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NP91-1) [UniParc]FASTAAdd to basket
Also known as: XT3

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
MEKARPLWAN SLQFVFACIS YAVGLGNVWR FPYLCQMYGG GSFLVPYIIM
60 70 80 90 100
LIVEGMPLLY LELAVGQRMR QGSIGAWRTI SPYLSGVGVA SVVVSFFLSM
110 120 130 140 150
YYNVINAWAF WYLFHSFQDP LPWSVCPLNG NHTGYDEECE KASSTQYFWY
160 170 180 190 200
RKTLNISPSL QENGGVQWEP ALCLLLAWLV VYLCILRGTE STGKVVYFTA
210 220 230 240 250
SLPYCVLIIY LIRGLTLHGA TNGLMYMFTP KIEQLANPKA WINAATQIFF
260 270 280 290 300
SLGLGFGSLI AFASYNEPSN NCQKHAIIVS LINSFTSIFA SIVTFSIYGF
310 320 330 340 350
KATFNYENCL KKVSLLLTNT FDLEDGFLTA SNLEQVKGYL ASAYPSKYSE
360 370 380 390 400
MFPQIKNCSL ESELDTAVQG TGLAFIVYTE AIKNMEVSQL WSVLYFFMLL
410 420 430 440 450
MLGIGSMLGN TAAILTPLTD SKIISSHLPK EAISGLVCLV NCAIGMVFTM
460 470 480 490 500
EAGNYWFDIF NDYAATLSLL LIVLVETIAV CYVYGLRRFE SDLKAMTGRA
510 520 530 540 550
VSWYWKVMWA GVSPLLIVSL FVFYLSDYIL TGTLKYQAWD ASQGQLVTKD
560 570 580 590
YPAYALAVIG LLVASSTMCI PLAALGTFVQ RRLKRGDADP VA
Length:592
Mass (Da):65,914
Last modified:October 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iAF6E94E19895377F
GO
Isoform 2 (identifier: Q9NP91-2) [UniParc]FASTAAdd to basket
Also known as: XT3a

The sequence of this isoform differs from the canonical sequence as follows:
     195-231: Missing.

Show »
Length:555
Mass (Da):61,751
Checksum:iA7CE6C1CE318CF69
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B7ZLW4B7ZLW4_HUMAN
Transporter
SLC6A20
547Annotation 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>
C9JIN6C9JIN6_HUMAN
Sodium- and chloride-dependent tran...
SLC6A20
264Annotation 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

The sequence AAL75944 differs from that shown. Reason: Erroneous initiation.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 conflicti31F → N in AAC27755 (Ref. 2) Curated1
Sequence conflicti217L → V in AAC27755 (Ref. 2) 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_0218629A → G. Corresponds to variant dbSNP:rs2271615EnsemblClinVar.1
Natural variantiVAR_052068199T → M Common variant that contributes to hyperglycinuria and iminoglycinuria in patients carrying variants in SLC36A2, SLC6A19 or SLC6A18; results in SLC6A20 inactivation due to a 8-fold decrease of Vmax. 1 PublicationCorresponds to variant dbSNP:rs17279437EnsemblClinVar.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_050002195 – 231Missing in isoform 2. 2 PublicationsAdd BLAST37

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AJ276207 mRNA Translation: CAB99310.1
AJ276208 mRNA Translation: CAB99311.1
AJ289880 Genomic DNA Translation: CAB96872.1
AF125107 mRNA Translation: AAL75944.1 Different initiation.
CH471055 Genomic DNA Translation: EAW64748.1
BC126197 mRNA Translation: AAI26198.1
BC136431 mRNA Translation: AAI36432.1
AF075260 mRNA Translation: AAC27755.1
AL389979 mRNA Translation: CAB97535.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2730.1 [Q9NP91-2]
CCDS43077.1 [Q9NP91-1]

NCBI Reference Sequences

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RefSeqi
NP_064593.1, NM_020208.3 [Q9NP91-1]
NP_071800.1, NM_022405.3 [Q9NP91-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000353278; ENSP00000296133; ENSG00000163817 [Q9NP91-2]
ENST00000358525; ENSP00000346298; ENSG00000163817 [Q9NP91-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
54716

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:54716

UCSC genome browser

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UCSCi
uc011bai.3 human [Q9NP91-1]

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
AJ276207 mRNA Translation: CAB99310.1
AJ276208 mRNA Translation: CAB99311.1
AJ289880 Genomic DNA Translation: CAB96872.1
AF125107 mRNA Translation: AAL75944.1 Different initiation.
CH471055 Genomic DNA Translation: EAW64748.1
BC126197 mRNA Translation: AAI26198.1
BC136431 mRNA Translation: AAI36432.1
AF075260 mRNA Translation: AAC27755.1
AL389979 mRNA Translation: CAB97535.1
CCDSiCCDS2730.1 [Q9NP91-2]
CCDS43077.1 [Q9NP91-1]
RefSeqiNP_064593.1, NM_020208.3 [Q9NP91-1]
NP_071800.1, NM_022405.3 [Q9NP91-2]

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi120108, 28 interactors
IntActiQ9NP91, 8 interactors
STRINGi9606.ENSP00000346298

Protein family/group databases

TCDBi2.A.22.6.8 the neurotransmitter:sodium symporter (nss) family

PTM databases

iPTMnetiQ9NP91
PhosphoSitePlusiQ9NP91

Polymorphism and mutation databases

BioMutaiSLC6A20
DMDMi46397768

Proteomic databases

MassIVEiQ9NP91
PaxDbiQ9NP91
PeptideAtlasiQ9NP91
PRIDEiQ9NP91
ProteomicsDBi81934 [Q9NP91-1]
81935 [Q9NP91-2]

Genome annotation databases

EnsembliENST00000353278; ENSP00000296133; ENSG00000163817 [Q9NP91-2]
ENST00000358525; ENSP00000346298; ENSG00000163817 [Q9NP91-1]
GeneIDi54716
KEGGihsa:54716
UCSCiuc011bai.3 human [Q9NP91-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
54716
DisGeNETi54716

GeneCards: human genes, protein and diseases

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GeneCardsi
SLC6A20
HGNCiHGNC:30927 SLC6A20
HPAiHPA029873
MalaCardsiSLC6A20
MIMi138500 phenotype
242600 phenotype
605616 gene
neXtProtiNX_Q9NP91
OpenTargetsiENSG00000163817
Orphaneti42062 Iminoglycinuria
PharmGKBiPA134865308

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3659 Eukaryota
COG0733 LUCA
GeneTreeiENSGT00940000155873
HOGENOMiHOG000116406
InParanoidiQ9NP91
KOiK05048
OMAiSFIVYTE
OrthoDBi547281at2759
PhylomeDBiQ9NP91
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-5619101 Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
R-HSA-5660686 Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)

Miscellaneous databases

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

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ChiTaRSi
SLC6A20 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SLC6A20

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

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GenomeRNAii
54716
PharosiQ9NP91

Protein Ontology

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PROi
PR:Q9NP91

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000163817 Expressed in 110 organ(s), highest expression level in pigmented layer of retina
ExpressionAtlasiQ9NP91 baseline and differential
GenevisibleiQ9NP91 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
PS00754 NA_NEUROTRAN_SYMP_2, 1 hit
PS50267 NA_NEUROTRAN_SYMP_3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiS6A20_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: Q9NP91
Secondary accession number(s): A1A4F2
, O75590, Q8TF10, Q9NPQ2, Q9NQ77
<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: March 29, 2004
Last sequence update: October 1, 2000
Last modified: October 16, 2019
This is version 145 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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