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UniProtKB - Q9NP91 (S6A20_HUMAN)

Protein

Sodium- and chloride-dependent transporter XTRP3

Gene

SLC6A20

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • amino acid transmembrane transporter activity Source: UniProtKB
  • L-proline transmembrane transporter activity Source: GO_Central
  • neurotransmitter:sodium symporter activity Source: InterPro
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • amino acid transport Source: UniProtKB
  • glycine transport Source: UniProtKB
  • proline transport Source: UniProtKB
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processAmino-acid transport, Symport, Transport

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)

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000163817.15
HGNCiHGNC:30927 SLC6A20
MIMi605616 gene
neXtProtiNX_Q9NP91

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; Source: COMPARTMENTS

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

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...) asparagineSequence analysis1
Glycosylationi357N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9NP91
PeptideAtlasiQ9NP91
PRIDEiQ9NP91
ProteomicsDBi81934
81935 [Q9NP91-2]

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 Expressed in 110 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_SIT1
HS_SLC6A20
ExpressionAtlasiQ9NP91 baseline and differential
GenevisibleiQ9NP91 HS

Organism-specific databases

HPAiHPA029873

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi120108, 28 interactors
IntActiQ9NP91, 8 interactors
STRINGi9606.ENSP00000346298

Structurei

3D structure databases

ProteinModelPortaliQ9NP91
ModBaseiSearch...
MobiDBiSearch...

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 helix

Phylogenomic databases

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

Family and domain databases

InterProiView protein in InterPro
IPR000175 Na/ntran_symport
IPR002438 Na/ntran_symport_orphan
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

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 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 '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

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:
C9JIN6C9JIN6_HUMAN
Sodium- and chloride-dependent tran...
SLC6A20
264Annotation score:

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 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
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

Similar 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
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, 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

PaxDbiQ9NP91
PeptideAtlasiQ9NP91
PRIDEiQ9NP91
ProteomicsDBi81934
81935 [Q9NP91-2]

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
EuPathDBiHostDB:ENSG00000163817.15
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
OMAiPNWYWKI
OrthoDBiEOG091G08PX
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

ChiTaRSiSLC6A20 human
GeneWikiiSLC6A20
GenomeRNAii54716
PROiPR:Q9NP91
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163817 Expressed in 110 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_SIT1
HS_SLC6A20
ExpressionAtlasiQ9NP91 baseline and differential
GenevisibleiQ9NP91 HS

Family and domain databases

InterProiView protein in InterPro
IPR000175 Na/ntran_symport
IPR002438 Na/ntran_symport_orphan
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
ProtoNetiSearch...

Entry informationi

Entry nameiS6A20_HUMAN
AccessioniPrimary (citable) accession number: Q9NP91
Secondary accession number(s): A1A4F2
, O75590, Q8TF10, Q9NPQ2, Q9NQ77
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: October 1, 2000
Last modified: November 7, 2018
This is version 138 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: 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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