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Q9NP91

- S6A20_HUMAN

UniProt

Q9NP91 - S6A20_HUMAN

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Protein

Sodium- and chloride-dependent transporter XTRP3

Gene

SLC6A20

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. amino acid transmembrane transporter activity Source: UniProtKB
  2. neurotransmitter:sodium symporter activity Source: InterPro

GO - Biological processi

  1. amino acid transmembrane transport Source: GOC
  2. amino acid transport Source: UniProtKB
  3. glycine transport Source: UniProtKB
  4. ion transport Source: Reactome
  5. proline transport Source: UniProtKB
  6. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Amino-acid transport, Symport, Transport

Enzyme and pathway databases

ReactomeiREACT_13796. Amino acid transport across the plasma membrane.
REACT_20506. 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
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:30927. SLC6A20.

Subcellular locationi

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

GO - Cellular componenti

  1. apical plasma membrane Source: UniProtKB
  2. integral component of plasma membrane Source: InterPro
  3. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Hyperglycinuria (HG) [MIM:138500]: A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Iminoglycinuria (IG) [MIM:242600]: A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine.
Note: 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.

Organism-specific databases

MIMi138500. phenotype.
242600. phenotype.
Orphaneti42062. Iminoglycinuria.
PharmGKBiPA134865308.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 592592Sodium- and chloride-dependent transporter XTRP3PRO_0000214812Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi131 – 1311N-linked (GlcNAc...)Sequence Analysis
Glycosylationi357 – 3571N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9NP91.
PRIDEiQ9NP91.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9NP91.
CleanExiHS_SIT1.
HS_SLC6A20.
ExpressionAtlasiQ9NP91. baseline and differential.
GenevestigatoriQ9NP91.

Organism-specific databases

HPAiHPA029873.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000346298.

Structurei

3D structure databases

ProteinModelPortaliQ9NP91.
SMRiQ9NP91. Positions 5-265.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 55CytoplasmicSequence Analysis
Topological domaini27 – 4216ExtracellularSequence AnalysisAdd
BLAST
Topological domaini64 – 7916CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini101 – 16565ExtracellularSequence AnalysisAdd
BLAST
Topological domaini187 – 1948CytoplasmicSequence Analysis
Topological domaini216 – 24126ExtracellularSequence AnalysisAdd
BLAST
Topological domaini263 – 27614CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini298 – 38992ExtracellularSequence AnalysisAdd
BLAST
Topological domaini411 – 43121CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini453 – 46513ExtracellularSequence AnalysisAdd
BLAST
Topological domaini487 – 50418CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini526 – 55429ExtracellularSequence AnalysisAdd
BLAST
Topological domaini576 – 59217CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei6 – 2621Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei43 – 6321Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei80 – 10021Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei166 – 18621Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei195 – 21521Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei242 – 26221Helical; Name=6Sequence AnalysisAdd
BLAST
Transmembranei277 – 29721Helical; Name=7Sequence AnalysisAdd
BLAST
Transmembranei390 – 41021Helical; Name=8Sequence AnalysisAdd
BLAST
Transmembranei432 – 45221Helical; Name=9Sequence AnalysisAdd
BLAST
Transmembranei466 – 48621Helical; Name=10Sequence AnalysisAdd
BLAST
Transmembranei505 – 52521Helical; Name=11Sequence AnalysisAdd
BLAST
Transmembranei555 – 57521Helical; Name=12Sequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0733.
GeneTreeiENSGT00760000119044.
HOGENOMiHOG000116406.
HOVERGENiHBG071421.
InParanoidiQ9NP91.
KOiK05048.
OMAiATNGLMY.
OrthoDBiEOG793B71.
PhylomeDBiQ9NP91.
TreeFamiTF343812.

Family and domain databases

InterProiIPR000175. Na/ntran_symport.
IPR002438. Na/ntran_symport_orphan.
[Graphical view]
PANTHERiPTHR11616. PTHR11616. 1 hit.
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. Align

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 AAL75944.1 differs from that shown. Reason: Erroneous initiation.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti31 – 311F → N in AAC27755. 1 PublicationCurated
Sequence conflicti217 – 2171L → V in AAC27755. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 91A → G.
Corresponds to variant rs2271615 [ dbSNP | Ensembl ].
VAR_021862
Natural varianti199 – 1991T → 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 Publication
Corresponds to variant rs17279437 [ dbSNP | Ensembl ].
VAR_052068

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei195 – 23137Missing in isoform 2. 2 PublicationsVSP_050002Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.2. human. [Q9NP91-1]
uc011baj.2. human. [Q9NP91-2]

Polymorphism databases

DMDMi46397768.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 ]
UniGenei Hs.413095.

3D structure databases

ProteinModelPortali Q9NP91.
SMRi Q9NP91. Positions 5-265.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000346298.

Protein family/group databases

TCDBi 2.A.22.6.8. the neurotransmitter:sodium symporter (nss) family.

Polymorphism databases

DMDMi 46397768.

Proteomic databases

PaxDbi Q9NP91.
PRIDEi Q9NP91.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000353278 ; ENSP00000296133 ; ENSG00000163817 . [Q9NP91-2 ]
ENST00000358525 ; ENSP00000346298 ; ENSG00000163817 . [Q9NP91-1 ]
GeneIDi 54716.
KEGGi hsa:54716.
UCSCi uc011bai.2. human. [Q9NP91-1 ]
uc011baj.2. human. [Q9NP91-2 ]

Organism-specific databases

CTDi 54716.
GeneCardsi GC03M045796.
HGNCi HGNC:30927. SLC6A20.
HPAi HPA029873.
MIMi 138500. phenotype.
242600. phenotype.
605616. gene.
neXtProti NX_Q9NP91.
Orphaneti 42062. Iminoglycinuria.
PharmGKBi PA134865308.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0733.
GeneTreei ENSGT00760000119044.
HOGENOMi HOG000116406.
HOVERGENi HBG071421.
InParanoidi Q9NP91.
KOi K05048.
OMAi ATNGLMY.
OrthoDBi EOG793B71.
PhylomeDBi Q9NP91.
TreeFami TF343812.

Enzyme and pathway databases

Reactomei REACT_13796. Amino acid transport across the plasma membrane.
REACT_20506. Na+/Cl- dependent neurotransmitter transporters.

Miscellaneous databases

GeneWikii SLC6A20.
GenomeRNAii 54716.
NextBioi 57286.
PROi Q9NP91.
SOURCEi Search...

Gene expression databases

Bgeei Q9NP91.
CleanExi HS_SIT1.
HS_SLC6A20.
ExpressionAtlasi Q9NP91. baseline and differential.
Genevestigatori Q9NP91.

Family and domain databases

InterProi IPR000175. Na/ntran_symport.
IPR002438. Na/ntran_symport_orphan.
[Graphical view ]
PANTHERi PTHR11616. PTHR11616. 1 hit.
Pfami PF00209. SNF. 1 hit.
[Graphical view ]
PRINTSi PR00176. NANEUSMPORT.
PR01206. ORPHTRNSPORT.
PROSITEi PS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3."
    Kiss H., Kedra D., Kiss C., Kost-Alimova M., Yang Y., Klein G., Imreh S., Dumanski J.P.
    Genomics 73:10-19(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2).
  2. "Cloning of a new human cDNA similar to Rattus norvegicus neurotransmitter transporter rB21a."
    Zhou Y., Yu L., Zhao S.Y.
    Submitted (FEB-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
  5. "Cloning, gene structure, and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms."
    Nash S.R., Giros B., Kingsmore S.F., Kim K.M., El-Mestikawy S., Dong Q., Fumagalli F., Seldin M.F., Caron M.G.
    Recept. Channels 6:113-128(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-315 (ISOFORM 1), TISSUE SPECIFICITY.
  6. The European IMAGE consortium
    Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 232-592.
  7. "Identification of mammalian proline transporter SIT1 (SLC6A20) with characteristics of classical system imino."
    Takanaga H., Mackenzie B., Suzuki Y., Hediger M.A.
    J. Biol. Chem. 280:8974-8984(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  8. "Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters."
    Broer S., Bailey C.G., Kowalczuk S., Ng C., Vanslambrouck J.M., Rodgers H., Auray-Blais C., Cavanaugh J.A., Broer A., Rasko J.E.
    J. Clin. Invest. 118:3881-3892(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, TISSUE SPECIFICITY, VARIANT MET-199, CHARACTERIZATION OF VARIANT MET-199, INVOLVEMENT IN HG AND IG.

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: October 29, 2014
This is version 107 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

External Data

Dasty 3