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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-Experimental evidence at protein leveli

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

GO - Biological processi

  • amino acid transport Source: UniProtKB
  • glycine import Source: GO_Central
  • glycine transport Source: UniProtKB
  • proline transport Source: UniProtKB
  • synaptic transmission, glycinergic Source: GO_Central
Complete GO annotation...

Keywords - Biological processi

Amino-acid transport, Symport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163817-MONOMER.
ReactomeiR-HSA-352230. Amino acid transport across the plasma membrane.
R-HSA-442660. Na+/Cl- dependent neurotransmitter transporters.

Protein family/group databases

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

Names & Taxonomyi

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
Gene namesi
Name:SLC6A20
Synonyms:SIT1, XT3, XTRP3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:30927. SLC6A20.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 5CytoplasmicSequence analysis5
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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

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.
See also OMIM:138500
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.
See also OMIM:242600

Organism-specific databases

DisGeNETi54716.
MalaCardsiSLC6A20.
MIMi138500. phenotype.
242600. phenotype.
OpenTargetsiENSG00000163817.
Orphaneti42062. Iminoglycinuria.
PharmGKBiPA134865308.

Polymorphism and mutation databases

BioMutaiSLC6A20.
DMDMi46397768.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002148121 – 592Sodium- and chloride-dependent transporter XTRP3Add BLAST592

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi131N-linked (GlcNAc...)Sequence analysis1
Glycosylationi357N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9NP91.
PeptideAtlasiQ9NP91.
PRIDEiQ9NP91.

PTM databases

iPTMnetiQ9NP91.
PhosphoSitePlusiQ9NP91.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000163817.
CleanExiHS_SIT1.
HS_SLC6A20.
ExpressionAtlasiQ9NP91. baseline and differential.
GenevisibleiQ9NP91. HS.

Organism-specific databases

HPAiHPA029873.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
ADAMTSL4Q6UY14-33EBI-10311198,EBI-10173507
KRTAP10-5P603703EBI-10311198,EBI-10172150
KRTAP10-7P604093EBI-10311198,EBI-10172290
KRTAP10-8P604105EBI-10311198,EBI-10171774
KRTAP10-9P604113EBI-10311198,EBI-10172052
NOTCH2NLQ7Z3S95EBI-10311198,EBI-945833

Protein-protein interaction databases

BioGridi120108. 8 interactors.
IntActiQ9NP91. 7 interactors.
STRINGi9606.ENSP00000346298.

Structurei

3D structure databases

ProteinModelPortaliQ9NP91.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3659. Eukaryota.
COG0733. LUCA.
GeneTreeiENSGT00760000119044.
HOGENOMiHOG000116406.
HOVERGENiHBG071421.
InParanoidiQ9NP91.
KOiK05048.
OMAiLVCLVNC.
OrthoDBiEOG091G08PX.
PhylomeDBiQ9NP91.
TreeFamiTF343812.

Family and domain databases

InterProiIPR000175. Na/ntran_symport.
IPR002438. Na/ntran_symport_orphan.
[Graphical view]
PANTHERiPTHR11616. PTHR11616. 2 hits.
PfamiPF00209. SNF. 1 hit.
[Graphical view]
PRINTSiPR00176. NANEUSMPORT.
PR01206. ORPHTRNSPORT.
PROSITEiPS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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

Sequence cautioni

The sequence AAL75944 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti31F → N in AAC27755 (Ref. 2) Curated1
Sequence conflicti217L → V in AAC27755 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0218629A → G.Corresponds to variant rs2271615dbSNPEnsembl.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 rs17279437dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_050002195 – 231Missing in isoform 2. 2 PublicationsAdd BLAST37

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]
UniGeneiHs.413095.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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]
UniGeneiHs.413095.

3D structure databases

ProteinModelPortaliQ9NP91.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120108. 8 interactors.
IntActiQ9NP91. 7 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

PaxDbiQ9NP91.
PeptideAtlasiQ9NP91.
PRIDEiQ9NP91.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi54716.
DisGeNETi54716.
GeneCardsiSLC6A20.
HGNCiHGNC:30927. SLC6A20.
HPAiHPA029873.
MalaCardsiSLC6A20.
MIMi138500. phenotype.
242600. phenotype.
605616. gene.
neXtProtiNX_Q9NP91.
OpenTargetsiENSG00000163817.
Orphaneti42062. Iminoglycinuria.
PharmGKBiPA134865308.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3659. Eukaryota.
COG0733. LUCA.
GeneTreeiENSGT00760000119044.
HOGENOMiHOG000116406.
HOVERGENiHBG071421.
InParanoidiQ9NP91.
KOiK05048.
OMAiLVCLVNC.
OrthoDBiEOG091G08PX.
PhylomeDBiQ9NP91.
TreeFamiTF343812.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163817-MONOMER.
ReactomeiR-HSA-352230. Amino acid transport across the plasma membrane.
R-HSA-442660. Na+/Cl- dependent neurotransmitter transporters.

Miscellaneous databases

ChiTaRSiSLC6A20. human.
GeneWikiiSLC6A20.
GenomeRNAii54716.
PROiQ9NP91.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163817.
CleanExiHS_SIT1.
HS_SLC6A20.
ExpressionAtlasiQ9NP91. baseline and differential.
GenevisibleiQ9NP91. HS.

Family and domain databases

InterProiIPR000175. Na/ntran_symport.
IPR002438. Na/ntran_symport_orphan.
[Graphical view]
PANTHERiPTHR11616. PTHR11616. 2 hits.
PfamiPF00209. SNF. 1 hit.
[Graphical view]
PRINTSiPR00176. NANEUSMPORT.
PR01206. ORPHTRNSPORT.
PROSITEiPS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiS6A20_HUMAN
AccessioniPrimary (citable) accession number: Q9NP91
Secondary accession number(s): A1A4F2
, O75590, Q8TF10, Q9NPQ2, Q9NQ77
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: October 1, 2000
Last modified: November 30, 2016
This is version 126 of the entry and version 1 of the sequence. [Complete history]
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.

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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.