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UniProtKB - Q695T7 (S6A19_HUMAN)

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Protein

Sodium-dependent neutral amino acid transporter B(0)AT1

Gene

SLC6A19

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells. This uptake is sodium-dependent and chloride-independent.1 Publication

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

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-5619044 Defective SLC6A19 causes Hartnup disorder (HND)
R-HSA-5659735 Defective SLC6A19 causes Hartnup disorder (HND)

Protein family/group databases

TCDBi2.A.22.6.3 the neurotransmitter:sodium symporter (nss) family

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium-dependent neutral amino acid transporter B(0)AT1
Alternative name(s):
Solute carrier family 6 member 19
System B(0) neutral amino acid transporter AT1
Gene namesi
Name:SLC6A19
Synonyms:B0AT1
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 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000174358.15
HGNCiHGNC:27960 SLC6A19
MIMi608893 gene
neXtProtiNX_Q695T7

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 – 41CytoplasmicSequence analysisAdd BLAST41
Transmembranei42 – 62Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini63 – 67ExtracellularSequence analysis5
Transmembranei68 – 88Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini89 – 120CytoplasmicSequence analysisAdd BLAST32
Transmembranei121 – 141Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini142 – 192ExtracellularSequence analysisAdd BLAST51
Transmembranei193 – 213Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini214 – 221CytoplasmicSequence analysis8
Transmembranei222 – 242Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini243 – 268ExtracellularSequence analysisAdd BLAST26
Transmembranei269 – 289Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini290 – 304CytoplasmicSequence analysisAdd BLAST15
Transmembranei305 – 325Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini326 – 413ExtracellularSequence analysisAdd BLAST88
Transmembranei414 – 434Helical; Name=8Sequence analysisAdd BLAST21
Topological domaini435 – 456CytoplasmicSequence analysisAdd BLAST22
Transmembranei457 – 477Helical; Name=9Sequence analysisAdd BLAST21
Topological domaini478 – 490ExtracellularSequence analysisAdd BLAST13
Transmembranei491 – 511Helical; Name=10Sequence analysisAdd BLAST21
Topological domaini512 – 531CytoplasmicSequence analysisAdd BLAST20
Transmembranei532 – 552Helical; Name=11Sequence analysisAdd BLAST21
Topological domaini553 – 581ExtracellularSequence analysisAdd BLAST29
Transmembranei582 – 602Helical; Name=12Sequence analysisAdd BLAST21
Topological domaini603 – 634CytoplasmicSequence analysisAdd BLAST32

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Hartnup disorder (HND)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport noted for its clinical variability. First described in 1956, HND is characterized by increases in the urinary and intestinal excretion of neutral amino acids. Individuals with typical Hartnup aminoaciduria may be asymptomatic, some develop a photosensitive pellagra-like rash, attacks of cerebellar ataxia and other neurological or psychiatric features. Although the definition of HND was originally based on clinical and biochemical abnormalities, its marked clinical heterogeneity has led to it being known as a disorder with a consistent pathognomonic neutral hyperaminoaciduria.
See also OMIM:234500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02331457R → C in HND; abolishes transport activity. 1 PublicationCorresponds to variant dbSNP:rs762989809Ensembl.1
Natural variantiVAR_023315173D → N in HND; population allele frequency among Europeans is 0.007; reduces transport activity by 50% but does not completely inactivates the transporter. 1 PublicationCorresponds to variant dbSNP:rs121434346EnsemblClinVar.1
Natural variantiVAR_023317242L → P in HND; completely abolishes the transport activity. 1 PublicationCorresponds to variant dbSNP:rs200745023Ensembl.1
Natural variantiVAR_023319501E → K in HND; completely abolishes the transport activity. 1 Publication1
Hyperglycinuria (HG)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for hyperglycinuria.
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 may be caused by mutations affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be 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

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi340024
MalaCardsiSLC6A19
MIMi138500 phenotype
234500 phenotype
242600 phenotype
OpenTargetsiENSG00000174358
Orphaneti2116 Hartnup disease
42062 Iminoglycinuria
PharmGKBiPA134968815

Chemistry databases

GuidetoPHARMACOLOGYi939

Polymorphism and mutation databases

BioMutaiSLC6A19
DMDMi73919285

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002148091 – 634Sodium-dependent neutral amino acid transporter B(0)AT1Add BLAST634

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei17PhosphoserineBy similarity1
Glycosylationi158N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi182N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi258N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi354N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi368N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei627PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ695T7
PeptideAtlasiQ695T7
PRIDEiQ695T7
ProteomicsDBi66151

PTM databases

iPTMnetiQ695T7
PhosphoSitePlusiQ695T7

Expressioni

Tissue specificityi

Robust expression in kidney and small intestine, with minimal expression in pancreas. Also expressed in stomach, liver, duodenum, ileocecum, colon and prostate. Not detected in testis, whole brain, cerebellum, fetal liver, spleen, skeletal muscle, uterus, heart or lung.2 Publications

Gene expression databases

BgeeiENSG00000174358
CleanExiHS_SLC6A19
ExpressionAtlasiQ695T7 baseline and differential
GenevisibleiQ695T7 HS

Organism-specific databases

HPAiHPA037415
HPA043207

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000305302

Structurei

3D structure databases

ProteinModelPortaliQ695T7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A19 subfamily. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3659 Eukaryota
COG0733 LUCA
GeneTreeiENSGT00760000119044
HOGENOMiHOG000116406
HOVERGENiHBG071421
InParanoidiQ695T7
KOiK05334
OMAiGYVEECA
OrthoDBiEOG091G08PX
PhylomeDBiQ695T7
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, 2 hits
PROSITEiView protein in PROSITE
PS00610 NA_NEUROTRAN_SYMP_1, 1 hit
PS50267 NA_NEUROTRAN_SYMP_3, 1 hit

Sequencei

Sequence statusi: Complete.

Q695T7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVRLVLPNPG LDARIPSLAE LETIEQEEAS SRPKWDNKAQ YMLTCLGFCV 
        60         70         80         90        100
GLGNVWRFPY LCQSHGGGAF MIPFLILLVL EGIPLLYLEF AIGQRLRRGS 
       110        120        130        140        150
LGVWSSIHPA LKGLGLASML TSFMVGLYYN TIISWIMWYL FNSFQEPLPW 
       160        170        180        190        200
SDCPLNENQT GYVDECARSS PVDYFWYRET LNISTSISDS GSIQWWMLLC 
       210        220        230        240        250
LACAWSVLYM CTIRGIETTG KAVYITSTLP YVVLTIFLIR GLTLKGATNG 
       260        270        280        290        300
IVFLFTPNVT ELAQPDTWLD AGAQVFFSFS LAFGGLISFS SYNSVHNNCE 
       310        320        330        340        350
KDSVIVSIIN GFTSVYVAIV VYSVIGFRAT QRYDDCFSTN ILTLINGFDL 
       360        370        380        390        400
PEGNVTQENF VDMQQRCNAS DPAAYAQLVF QTCDINAFLS EAVEGTGLAF 
       410        420        430        440        450
IVFTEAITKM PLSPLWSVLF FIMLFCLGLS SMFGNMEGVV VPLQDLRVIP 
       460        470        480        490        500
PKWPKEVLTG LICLGTFLIG FIFTLNSGQY WLSLLDSYAG SIPLLIIAFC 
       510        520        530        540        550
EMFSVVYVYG VDRFNKDIEF MIGHKPNIFW QVTWRVVSPL LMLIIFLFFF 
       560        570        580        590        600
VVEVSQELTY SIWDPGYEEF PKSQKISYPN WVYVVVVIVA GVPSLTIPGY 
       610        620        630 
AIYKLIRNHC QKPGDHQGLV STLSTASMNG DLKY
Length:634
Mass (Da):71,110
Last modified:September 13, 2004 - v1
Checksum:iB85EFB02F9D53BB9
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02331457R → C in HND; abolishes transport activity. 1 PublicationCorresponds to variant dbSNP:rs762989809Ensembl.1
Natural variantiVAR_023315173D → N in HND; population allele frequency among Europeans is 0.007; reduces transport activity by 50% but does not completely inactivates the transporter. 1 PublicationCorresponds to variant dbSNP:rs121434346EnsemblClinVar.1
Natural variantiVAR_023316240R → Q1 PublicationCorresponds to variant dbSNP:rs758492838Ensembl.1
Natural variantiVAR_023317242L → P in HND; completely abolishes the transport activity. 1 PublicationCorresponds to variant dbSNP:rs200745023Ensembl.1
Natural variantiVAR_023318252V → I1 PublicationCorresponds to variant dbSNP:rs7732589EnsemblClinVar.1
Natural variantiVAR_023319501E → K in HND; completely abolishes the transport activity. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY596807 mRNA Translation: AAT42127.1
AY591756 mRNA Translation: AAT66171.1
AK290811 mRNA Translation: BAF83500.1
CH471102 Genomic DNA Translation: EAX08175.1
CCDSiCCDS34130.1
RefSeqiNP_001003841.1, NM_001003841.2
UniGeneiHs.481478

Genome annotation databases

EnsembliENST00000304460; ENSP00000305302; ENSG00000174358
GeneIDi340024
KEGGihsa:340024
UCSCiuc003jbw.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiS6A19_HUMAN
AccessioniPrimary (citable) accession number: Q695T7
Secondary accession number(s): A8K446
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: September 13, 2004
Last modified: June 20, 2018
This is version 123 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. Human chromosome 5
    Human chromosome 5: 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

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