UniProtKB - Q9NP91 (S6A20_HUMAN)
Protein
Sodium- and chloride-dependent transporter XTRP3
Gene
SLC6A20
Organism
Homo sapiens (Human)
Status
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
GO - Molecular functioni
- amino-acid betaine transmembrane transporter activity Source: ARUK-UCL
- amino acid transmembrane transporter activity Source: UniProtKB
- L-isoleucine transmembrane transporter activity Source: ARUK-UCL
- L-proline transmembrane transporter activity Source: ARUK-UCL
- neutral amino acid transmembrane transporter activity Source: ARUK-UCL
- proline:sodium symporter activity Source: ARUK-UCL
GO - Biological processi
- amino-acid betaine transport Source: ARUK-UCL
- amino acid import across plasma membrane Source: ARUK-UCL
- amino acid transport Source: UniProtKB
- glycine transport Source: UniProtKB
- L-isoleucine import across plasma membrane Source: ARUK-UCL
- L-proline import across plasma membrane Source: ARUK-UCL
- proline import across plasma membrane Source: ARUK-UCL
- proline transport Source: UniProtKB
- sodium ion transmembrane transport Source: GO_Central
- transport across blood-brain barrier Source: ARUK-UCL
Keywordsi
Biological process | Amino-acid transport, Symport, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q9NP91 |
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
TCDBi | 2.A.22.6.8, the neurotransmitter:sodium symporter (nss) family |
Names & Taxonomyi
Protein namesi | Recommended name: Sodium- and chloride-dependent transporter XTRP3Alternative name(s): Sodium/imino-acid transporter 1 Solute carrier family 6 member 20 Transporter rB21A homolog |
Gene namesi | Name:SLC6A20 Synonyms:SIT1, XT3, XTRP3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:30927, SLC6A20 |
MIMi | 605616, gene |
neXtProti | NX_Q9NP91 |
VEuPathDBi | HostDB:ENSG00000163817.15 |
Subcellular locationi
Plasma membrane
- Apical cell membrane By similarity; Multi-pass membrane protein By similarity
Note: Located in the apical brush border membrane of kidney proximal tubule cells.By similarity
Plasma Membrane
- apical plasma membrane Source: ARUK-UCL
- integral component of plasma membrane Source: GO_Central
- plasma membrane Source: Reactome
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 5 | CytoplasmicSequence analysis | 5 | |
Transmembranei | 6 – 26 | Helical; Name=1Sequence analysisAdd BLAST | 21 | |
Topological domaini | 27 – 42 | ExtracellularSequence analysisAdd BLAST | 16 | |
Transmembranei | 43 – 63 | Helical; Name=2Sequence analysisAdd BLAST | 21 | |
Topological domaini | 64 – 79 | CytoplasmicSequence analysisAdd BLAST | 16 | |
Transmembranei | 80 – 100 | Helical; Name=3Sequence analysisAdd BLAST | 21 | |
Topological domaini | 101 – 165 | ExtracellularSequence analysisAdd BLAST | 65 | |
Transmembranei | 166 – 186 | Helical; Name=4Sequence analysisAdd BLAST | 21 | |
Topological domaini | 187 – 194 | CytoplasmicSequence analysis | 8 | |
Transmembranei | 195 – 215 | Helical; Name=5Sequence analysisAdd BLAST | 21 | |
Topological domaini | 216 – 241 | ExtracellularSequence analysisAdd BLAST | 26 | |
Transmembranei | 242 – 262 | Helical; Name=6Sequence analysisAdd BLAST | 21 | |
Topological domaini | 263 – 276 | CytoplasmicSequence analysisAdd BLAST | 14 | |
Transmembranei | 277 – 297 | Helical; Name=7Sequence analysisAdd BLAST | 21 | |
Topological domaini | 298 – 389 | ExtracellularSequence analysisAdd BLAST | 92 | |
Transmembranei | 390 – 410 | Helical; Name=8Sequence analysisAdd BLAST | 21 | |
Topological domaini | 411 – 431 | CytoplasmicSequence analysisAdd BLAST | 21 | |
Transmembranei | 432 – 452 | Helical; Name=9Sequence analysisAdd BLAST | 21 | |
Topological domaini | 453 – 465 | ExtracellularSequence analysisAdd BLAST | 13 | |
Transmembranei | 466 – 486 | Helical; Name=10Sequence analysisAdd BLAST | 21 | |
Topological domaini | 487 – 504 | CytoplasmicSequence analysisAdd BLAST | 18 | |
Transmembranei | 505 – 525 | Helical; Name=11Sequence analysisAdd BLAST | 21 | |
Topological domaini | 526 – 554 | ExtracellularSequence analysisAdd BLAST | 29 | |
Transmembranei | 555 – 575 | Helical; Name=12Sequence analysisAdd BLAST | 21 | |
Topological domaini | 576 – 592 | CytoplasmicSequence analysisAdd BLAST | 17 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Hyperglycinuria (HG)1 Publication
The disease is caused by variants 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 OMIMIminoglycinuria (IG)1 Publication
The disease is caused by variants 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 OMIMOrganism-specific databases
DisGeNETi | 54716 |
MalaCardsi | SLC6A20 |
MIMi | 138500, phenotype 242600, phenotype |
OpenTargetsi | ENSG00000163817 |
Orphaneti | 42062, Iminoglycinuria |
PharmGKBi | PA134865308 |
Miscellaneous databases
Pharosi | Q9NP91, Tbio |
Genetic variation databases
BioMutai | SLC6A20 |
DMDMi | 46397768 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000214812 | 1 – 592 | Sodium- and chloride-dependent transporter XTRP3Add BLAST | 592 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 131 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 357 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
MassIVEi | Q9NP91 |
PaxDbi | Q9NP91 |
PeptideAtlasi | Q9NP91 |
PRIDEi | Q9NP91 |
ProteomicsDBi | 81934 [Q9NP91-1] 81935 [Q9NP91-2] |
PTM databases
GlyGeni | Q9NP91, 2 sites |
iPTMneti | Q9NP91 |
PhosphoSitePlusi | Q9NP91 |
Expressioni
Tissue specificityi
Kidney and small intestine. Expressed in the S3 segment of the proximal tubule.2 Publications
Gene expression databases
Bgeei | ENSG00000163817, Expressed in pigmented layer of retina and 136 other tissues |
ExpressionAtlasi | Q9NP91, baseline and differential |
Genevisiblei | Q9NP91, HS |
Organism-specific databases
HPAi | ENSG00000163817, Group enriched (gallbladder, intestine, retina) |
Interactioni
Binary interactionsi
Hide detailsQ9NP91
Protein-protein interaction databases
BioGRIDi | 120108, 31 interactors |
IntActi | Q9NP91, 9 interactors |
STRINGi | 9606.ENSP00000346298 |
Miscellaneous databases
RNActi | Q9NP91, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A20 subfamily. [View classification]Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3659, Eukaryota |
GeneTreei | ENSGT00940000155873 |
InParanoidi | Q9NP91 |
OMAi | SFIVYTE |
OrthoDBi | 547281at2759 |
PhylomeDBi | Q9NP91 |
TreeFami | TF343812 |
Family and domain databases
InterProi | View protein in InterPro IPR000175, Na/ntran_symport IPR002438, Neutral_aa_SLC6 IPR037272, SNS_sf |
PANTHERi | PTHR11616, PTHR11616, 1 hit |
Pfami | View protein in Pfam PF00209, SNF, 1 hit |
PRINTSi | PR00176, NANEUSMPORT PR01206, ORPHTRNSPORT |
SUPFAMi | SSF161070, SSF161070, 1 hit |
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 |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB7ZLW4 | B7ZLW4_HUMAN | Transporter | SLC6A20 | 547 | Annotation score: | ||
C9JIN6 | C9JIN6_HUMAN | Sodium- and chloride-dependent tran... | SLC6A20 | 264 | Annotation score: |
Sequence cautioni
The sequence AAL75944 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 31 | F → N in AAC27755 (Ref. 2) Curated | 1 | |
Sequence conflicti | 217 | L → V in AAC27755 (Ref. 2) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_021862 | 9 | A → G. Corresponds to variant dbSNP:rs2271615EnsemblClinVar. | 1 | |
Natural variantiVAR_052068 | 199 | T → 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_050002 | 195 – 231 | Missing in isoform 2. 2 PublicationsAdd BLAST | 37 |
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 |
CCDSi | CCDS2730.1 [Q9NP91-2] CCDS43077.1 [Q9NP91-1] |
RefSeqi | NP_064593.1, NM_020208.3 [Q9NP91-1] NP_071800.1, NM_022405.3 [Q9NP91-2] |
Genome annotation databases
Ensembli | ENST00000353278; ENSP00000296133; ENSG00000163817 [Q9NP91-2] ENST00000358525; ENSP00000346298; ENSG00000163817 [Q9NP91-1] |
GeneIDi | 54716 |
KEGGi | hsa:54716 |
UCSCi | uc011bai.3, human [Q9NP91-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS2730.1 [Q9NP91-2] CCDS43077.1 [Q9NP91-1] |
RefSeqi | NP_064593.1, NM_020208.3 [Q9NP91-1] NP_071800.1, NM_022405.3 [Q9NP91-2] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 120108, 31 interactors |
IntActi | Q9NP91, 9 interactors |
STRINGi | 9606.ENSP00000346298 |
Protein family/group databases
TCDBi | 2.A.22.6.8, the neurotransmitter:sodium symporter (nss) family |
PTM databases
GlyGeni | Q9NP91, 2 sites |
iPTMneti | Q9NP91 |
PhosphoSitePlusi | Q9NP91 |
Genetic variation databases
BioMutai | SLC6A20 |
DMDMi | 46397768 |
Proteomic databases
MassIVEi | Q9NP91 |
PaxDbi | Q9NP91 |
PeptideAtlasi | Q9NP91 |
PRIDEi | Q9NP91 |
ProteomicsDBi | 81934 [Q9NP91-1] 81935 [Q9NP91-2] |
Protocols and materials databases
Antibodypediai | 29592, 28 antibodies |
Genome annotation databases
Ensembli | ENST00000353278; ENSP00000296133; ENSG00000163817 [Q9NP91-2] ENST00000358525; ENSP00000346298; ENSG00000163817 [Q9NP91-1] |
GeneIDi | 54716 |
KEGGi | hsa:54716 |
UCSCi | uc011bai.3, human [Q9NP91-1] |
Organism-specific databases
CTDi | 54716 |
DisGeNETi | 54716 |
GeneCardsi | SLC6A20 |
HGNCi | HGNC:30927, SLC6A20 |
HPAi | ENSG00000163817, Group enriched (gallbladder, intestine, retina) |
MalaCardsi | SLC6A20 |
MIMi | 138500, phenotype 242600, phenotype 605616, gene |
neXtProti | NX_Q9NP91 |
OpenTargetsi | ENSG00000163817 |
Orphaneti | 42062, Iminoglycinuria |
PharmGKBi | PA134865308 |
VEuPathDBi | HostDB:ENSG00000163817.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3659, Eukaryota |
GeneTreei | ENSGT00940000155873 |
InParanoidi | Q9NP91 |
OMAi | SFIVYTE |
OrthoDBi | 547281at2759 |
PhylomeDBi | Q9NP91 |
TreeFami | TF343812 |
Enzyme and pathway databases
PathwayCommonsi | Q9NP91 |
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) |
Miscellaneous databases
BioGRID-ORCSi | 54716, 5 hits in 985 CRISPR screens |
ChiTaRSi | SLC6A20, human |
GeneWikii | SLC6A20 |
GenomeRNAii | 54716 |
Pharosi | Q9NP91, Tbio |
PROi | PR:Q9NP91 |
RNActi | Q9NP91, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000163817, Expressed in pigmented layer of retina and 136 other tissues |
ExpressionAtlasi | Q9NP91, baseline and differential |
Genevisiblei | Q9NP91, HS |
Family and domain databases
InterProi | View protein in InterPro IPR000175, Na/ntran_symport IPR002438, Neutral_aa_SLC6 IPR037272, SNS_sf |
PANTHERi | PTHR11616, PTHR11616, 1 hit |
Pfami | View protein in Pfam PF00209, SNF, 1 hit |
PRINTSi | PR00176, NANEUSMPORT PR01206, ORPHTRNSPORT |
SUPFAMi | SSF161070, SSF161070, 1 hit |
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 |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | S6A20_HUMAN | |
Accessioni | Q9NP91Primary (citable) accession number: Q9NP91 Secondary accession number(s): A1A4F2 Q9NQ77 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 29, 2004 |
Last sequence update: | October 1, 2000 | |
Last modified: | April 7, 2021 | |
This is version 154 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families