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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.
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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:27960. SLC6A19.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4141CytoplasmicSequence analysisAdd
BLAST
Transmembranei42 – 6221Helical; Name=1Sequence analysisAdd
BLAST
Topological domaini63 – 675ExtracellularSequence analysis
Transmembranei68 – 8821Helical; Name=2Sequence analysisAdd
BLAST
Topological domaini89 – 12032CytoplasmicSequence analysisAdd
BLAST
Transmembranei121 – 14121Helical; Name=3Sequence analysisAdd
BLAST
Topological domaini142 – 19251ExtracellularSequence analysisAdd
BLAST
Transmembranei193 – 21321Helical; Name=4Sequence analysisAdd
BLAST
Topological domaini214 – 2218CytoplasmicSequence analysis
Transmembranei222 – 24221Helical; Name=5Sequence analysisAdd
BLAST
Topological domaini243 – 26826ExtracellularSequence analysisAdd
BLAST
Transmembranei269 – 28921Helical; Name=6Sequence analysisAdd
BLAST
Topological domaini290 – 30415CytoplasmicSequence analysisAdd
BLAST
Transmembranei305 – 32521Helical; Name=7Sequence analysisAdd
BLAST
Topological domaini326 – 41388ExtracellularSequence analysisAdd
BLAST
Transmembranei414 – 43421Helical; Name=8Sequence analysisAdd
BLAST
Topological domaini435 – 45622CytoplasmicSequence analysisAdd
BLAST
Transmembranei457 – 47721Helical; Name=9Sequence analysisAdd
BLAST
Topological domaini478 – 49013ExtracellularSequence analysisAdd
BLAST
Transmembranei491 – 51121Helical; Name=10Sequence analysisAdd
BLAST
Topological domaini512 – 53120CytoplasmicSequence analysisAdd
BLAST
Transmembranei532 – 55221Helical; Name=11Sequence analysisAdd
BLAST
Topological domaini553 – 58129ExtracellularSequence analysisAdd
BLAST
Transmembranei582 – 60221Helical; Name=12Sequence analysisAdd
BLAST
Topological domaini603 – 63432CytoplasmicSequence analysisAdd
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti57 – 571R → C in HND; abolishes transport activity. 1 Publication
Corresponds to variant rs762989809 [ dbSNP | Ensembl ].
VAR_023314
Natural varianti173 – 1731D → N in HND; population allele frequency among Europeans is 0.007; reduces transport activity by 50% but does not completely inactivates the transporter. 1 Publication
Corresponds to variant rs121434346 [ dbSNP | Ensembl ].
VAR_023315
Natural varianti242 – 2421L → P in HND; completely abolishes the transport activity. 1 Publication
Corresponds to variant rs200745023 [ dbSNP | Ensembl ].
VAR_023317
Natural varianti501 – 5011E → K in HND; completely abolishes the transport activity. 1 Publication
VAR_023319
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

MalaCardsiSLC6A19.
MIMi138500. phenotype.
234500. phenotype.
242600. phenotype.
Orphaneti2116. Hartnup disease.
42062. Iminoglycinuria.
PharmGKBiPA134968815.

Polymorphism and mutation databases

BioMutaiSLC6A19.
DMDMi73919285.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 634634Sodium-dependent neutral amino acid transporter B(0)AT1PRO_0000214809Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei17 – 171PhosphoserineBy similarity
Glycosylationi158 – 1581N-linked (GlcNAc...)Sequence analysis
Glycosylationi182 – 1821N-linked (GlcNAc...)Sequence analysis
Glycosylationi258 – 2581N-linked (GlcNAc...)Sequence analysis
Glycosylationi354 – 3541N-linked (GlcNAc...)Sequence analysis
Glycosylationi368 – 3681N-linked (GlcNAc...)Sequence analysis
Modified residuei627 – 6271PhosphoserineBy similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ695T7.
PeptideAtlasiQ695T7.
PRIDEiQ695T7.

PTM databases

iPTMnetiQ695T7.
PhosphoSiteiQ695T7.

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

BgeeiQ695T7.
CleanExiHS_SLC6A19.
ExpressionAtlasiQ695T7. baseline and differential.
GenevisibleiQ695T7. HS.

Organism-specific databases

HPAiHPA037415.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000305302.

Structurei

3D structure databases

ProteinModelPortaliQ695T7.
SMRiQ695T7. Positions 32-329, 392-625.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3659. Eukaryota.
COG0733. LUCA.
GeneTreeiENSGT00760000119044.
HOGENOMiHOG000116406.
HOVERGENiHBG071421.
InParanoidiQ695T7.
KOiK05334.
OMAiGYVDECA.
OrthoDBiEOG793B71.
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti57 – 571R → C in HND; abolishes transport activity. 1 Publication
Corresponds to variant rs762989809 [ dbSNP | Ensembl ].
VAR_023314
Natural varianti173 – 1731D → N in HND; population allele frequency among Europeans is 0.007; reduces transport activity by 50% but does not completely inactivates the transporter. 1 Publication
Corresponds to variant rs121434346 [ dbSNP | Ensembl ].
VAR_023315
Natural varianti240 – 2401R → Q.1 Publication
Corresponds to variant rs758492838 [ dbSNP | Ensembl ].
VAR_023316
Natural varianti242 – 2421L → P in HND; completely abolishes the transport activity. 1 Publication
Corresponds to variant rs200745023 [ dbSNP | Ensembl ].
VAR_023317
Natural varianti252 – 2521V → I.1 Publication
Corresponds to variant rs7732589 [ dbSNP | Ensembl ].
VAR_023318
Natural varianti501 – 5011E → K in HND; completely abolishes the transport activity. 1 Publication
VAR_023319

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.
SMRiQ695T7. Positions 32-329, 392-625.
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.
PhosphoSiteiQ695T7.

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

Phylogenomic databases

eggNOGiKOG3659. Eukaryota.
COG0733. LUCA.
GeneTreeiENSGT00760000119044.
HOGENOMiHOG000116406.
HOVERGENiHBG071421.
InParanoidiQ695T7.
KOiK05334.
OMAiGYVDECA.
OrthoDBiEOG793B71.
PhylomeDBiQ695T7.
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-5619044. Defective SLC6A19 causes Hartnup disorder (HND).
R-HSA-5659735. Defective SLC6A19 causes Hartnup disorder (HND).

Miscellaneous databases

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

Gene expression databases

BgeeiQ695T7.
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...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANT HND CYS-57, CHARACTERIZATION OF VARIANT HND CYS-57.
  2. "Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19."
    Seow H.F., Broeer S., Broeer A., Bailey C.G., Potter S.J., Cavanaugh J.A., Rasko J.E.J.
    Nat. Genet. 36:1003-1007(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANTS HND ASN-173; PRO-242 AND LYS-501, CHARACTERIZATION OF VARIANTS HND ASN-173; PRO-242 AND LYS-501, VARIANTS GLN-240 AND ILE-252, CHARACTERIZATION OF VARIANTS GLN-240 AND ILE-252.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Kidney.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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: INVOLVEMENT IN HG AND IG.

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: July 6, 2016
This is version 109 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.