Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

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

Gene

SLC6A19

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transporter that mediates epithelial resorption of neutral amino acids across the apical membrane of epithelial cells in the kidney and intestine. It appears that leucine is the preferred substrate, but all large neutral non-aromatic L-amino acids bind to this transporter. Uptake of leucine is sodium-dependent. In contrast to other members of the neurotransmitter transporter family, does not appear to be chloride-dependent (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Amino-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.

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:27960. SLC6A19.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

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 rs762989809dbSNPEnsembl.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 rs121434346dbSNPEnsembl.1
Natural variantiVAR_023317242L → P in HND; completely abolishes the transport activity. 1 PublicationCorresponds to variant rs200745023dbSNPEnsembl.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.

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...)Sequence analysis1
Glycosylationi182N-linked (GlcNAc...)Sequence analysis1
Glycosylationi258N-linked (GlcNAc...)Sequence analysis1
Glycosylationi354N-linked (GlcNAc...)Sequence analysis1
Glycosylationi368N-linked (GlcNAc...)Sequence analysis1
Modified residuei627PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ695T7.
PeptideAtlasiQ695T7.
PRIDEiQ695T7.

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3659. Eukaryota.
COG0733. LUCA.
GeneTreeiENSGT00760000119044.
HOGENOMiHOG000116406.
HOVERGENiHBG071421.
InParanoidiQ695T7.
KOiK05334.
OMAiGYVDECA.
OrthoDBiEOG091G08PX.
PhylomeDBiQ695T7.
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.
PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
[Graphical view]

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 rs762989809dbSNPEnsembl.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 rs121434346dbSNPEnsembl.1
Natural variantiVAR_023316240R → Q.1 PublicationCorresponds to variant rs758492838dbSNPEnsembl.1
Natural variantiVAR_023317242L → P in HND; completely abolishes the transport activity. 1 PublicationCorresponds to variant rs200745023dbSNPEnsembl.1
Natural variantiVAR_023318252V → I.1 PublicationCorresponds to variant rs7732589dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ695T7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000305302.

Protein family/group databases

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

PTM databases

iPTMnetiQ695T7.
PhosphoSitePlusiQ695T7.

Polymorphism and mutation databases

BioMutaiSLC6A19.
DMDMi73919285.

Proteomic databases

PaxDbiQ695T7.
PeptideAtlasiQ695T7.
PRIDEiQ695T7.

Protocols and materials databases

DNASUi340024.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi340024.
DisGeNETi340024.
GeneCardsiSLC6A19.
HGNCiHGNC:27960. SLC6A19.
HPAiHPA037415.
HPA043207.
MalaCardsiSLC6A19.
MIMi138500. phenotype.
234500. phenotype.
242600. phenotype.
608893. gene.
neXtProtiNX_Q695T7.
OpenTargetsiENSG00000174358.
Orphaneti2116. Hartnup disease.
42062. Iminoglycinuria.
PharmGKBiPA134968815.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3659. Eukaryota.
COG0733. LUCA.
GeneTreeiENSGT00760000119044.
HOGENOMiHOG000116406.
HOVERGENiHBG071421.
InParanoidiQ695T7.
KOiK05334.
OMAiGYVDECA.
OrthoDBiEOG091G08PX.
PhylomeDBiQ695T7.
TreeFamiTF343812.

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiSLC6A19. human.
GeneWikiiSLC6A19.
GenomeRNAii340024.
PROiQ695T7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000174358.
CleanExiHS_SLC6A19.
ExpressionAtlasiQ695T7. baseline and differential.
GenevisibleiQ695T7. 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.
PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiS6A19_HUMAN
AccessioniPrimary (citable) accession number: Q695T7
Secondary accession number(s): A8K446
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: September 13, 2004
Last modified: November 30, 2016
This is version 113 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 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

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.