UniProtKB - Q695T7 (S6A19_HUMAN)
Sodium-dependent neutral amino acid transporter B(0)AT1
SLC6A19
Functioni
Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells (PubMed:15286787, PubMed:15286788, PubMed:18424768, PubMed:18484095, PubMed:19185582, PubMed:26240152).
This uptake is sodium-dependent and chloride-independent (PubMed:15286787, PubMed:19185582, PubMed:15286788).
Requires CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity (PubMed:19185582, PubMed:18424768).
6 PublicationsCatalytic activityi
GO - Molecular functioni
- amino acid transmembrane transporter activity Source: Reactome
- neutral amino acid transmembrane transporter activity Source: UniProtKB
- symporter activity Source: UniProtKB-KW
GO - Biological processi
- amino acid transport Source: Reactome
- response to nutrient Source: Ensembl
- sodium ion transmembrane transport Source: GO_Central
- viral life cycle Source: ComplexPortal
Keywordsi
Biological process | Amino-acid transport, Symport, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q695T7 |
Reactomei | R-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) |
SignaLinki | Q695T7 |
Protein family/group databases
TCDBi | 2.A.22.6.3, the neurotransmitter:sodium symporter (nss) family |
Names & Taxonomyi
Protein namesi | Recommended name: Sodium-dependent neutral amino acid transporter B(0)AT1Alternative name(s): Solute carrier family 6 member 19 System B(0) neutral amino acid transporter AT1 |
Gene namesi | Name:SLC6A19 Synonyms:B0AT1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:27960, SLC6A19 |
MIMi | 608893, gene |
neXtProti | NX_Q695T7 |
VEuPathDBi | HostDB:ENSG00000174358 |
Subcellular locationi
Plasma membrane
- Cell membrane 2 Publications; Multi-pass membrane protein Sequence analysis
- Apical cell membrane 1 Publication; Multi-pass membrane protein Sequence analysis
Note: Colocalizes with ACE2 on the apical membrane of cells lining villi of the jejunum, ileum and on kidney proximal tubules.1 Publication
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Plasma Membrane
- apical plasma membrane Source: UniProtKB
- brush border membrane Source: ARUK-UCL
- integral component of plasma membrane Source: GO_Central
- plasma membrane Source: Reactome
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 41 | CytoplasmicSequence analysisAdd BLAST | 41 | |
Transmembranei | 42 – 62 | Helical; Name=1Sequence analysisAdd BLAST | 21 | |
Topological domaini | 63 – 67 | ExtracellularSequence analysis | 5 | |
Transmembranei | 68 – 88 | Helical; Name=2Sequence analysisAdd BLAST | 21 | |
Topological domaini | 89 – 120 | CytoplasmicSequence analysisAdd BLAST | 32 | |
Transmembranei | 121 – 141 | Helical; Name=3Sequence analysisAdd BLAST | 21 | |
Topological domaini | 142 – 192 | ExtracellularSequence analysisAdd BLAST | 51 | |
Transmembranei | 193 – 213 | Helical; Name=4Sequence analysisAdd BLAST | 21 | |
Topological domaini | 214 – 221 | CytoplasmicSequence analysis | 8 | |
Transmembranei | 222 – 242 | Helical; Name=5Sequence analysisAdd BLAST | 21 | |
Topological domaini | 243 – 268 | ExtracellularSequence analysisAdd BLAST | 26 | |
Transmembranei | 269 – 289 | Helical; Name=6Sequence analysisAdd BLAST | 21 | |
Topological domaini | 290 – 304 | CytoplasmicSequence analysisAdd BLAST | 15 | |
Transmembranei | 305 – 325 | Helical; Name=7Sequence analysisAdd BLAST | 21 | |
Topological domaini | 326 – 413 | ExtracellularSequence analysisAdd BLAST | 88 | |
Transmembranei | 414 – 434 | Helical; Name=8Sequence analysisAdd BLAST | 21 | |
Topological domaini | 435 – 456 | CytoplasmicSequence analysisAdd BLAST | 22 | |
Transmembranei | 457 – 477 | Helical; Name=9Sequence analysisAdd BLAST | 21 | |
Topological domaini | 478 – 490 | ExtracellularSequence analysisAdd BLAST | 13 | |
Transmembranei | 491 – 511 | Helical; Name=10Sequence analysisAdd BLAST | 21 | |
Topological domaini | 512 – 531 | CytoplasmicSequence analysisAdd BLAST | 20 | |
Transmembranei | 532 – 552 | Helical; Name=11Sequence analysisAdd BLAST | 21 | |
Topological domaini | 553 – 581 | ExtracellularSequence analysisAdd BLAST | 29 | |
Transmembranei | 582 – 602 | Helical; Name=12Sequence analysisAdd BLAST | 21 | |
Topological domaini | 603 – 634 | CytoplasmicSequence analysisAdd BLAST | 32 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Hartnup disorder (HND)5 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023314 | 57 | R → C in HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; loss of surface expression when expressed alone or coexpressed with CLTRN or ACE2. 2 PublicationsCorresponds to variant dbSNP:rs762989809Ensembl. | 1 | |
Natural variantiVAR_081070 | 66 | G → R in HND; abolishes amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs1251095994Ensembl. | 1 | |
Natural variantiVAR_081071 | 69 | A → T in HND; increases cell membrane localization in presence of ACE2 or CLTRN; does not affect interaction with ACE2; amino acid transport activity is not activated in presence of ACE2 or CLTRN. 1 Publication | 1 | |
Natural variantiVAR_081072 | 93 | G → R in HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; increases surface cell expression when expressed alone or coexpressed with CLTRN or ACE2. 2 PublicationsCorresponds to variant dbSNP:rs757679627Ensembl. | 1 | |
Natural variantiVAR_023315 | 173 | D → N in HND; population allele frequency among Europeans is 0.007; reduced transport activity by 50% but does not completely inactivates the transporter; coexpression with ACE2 increased the transport rate whereas coexpression with CLTRN has the opposite effect; does not affect interaction with ACE2; decreased cell membrane localization in presence of CLTRN. 2 PublicationsCorresponds to variant dbSNP:rs121434346EnsemblClinVar. | 1 | |
Natural variantiVAR_081073 | 178 – 634 | Missing in HND; abolishes amino acid transport activity. 1 PublicationAdd BLAST | 457 | |
Natural variantiVAR_023316 | 240 | R → Q in HND; does not affect amino acid transport activity when expressed alone; decreases amino acid transport activity in presence of ACE2 or CLTRN; decreased surface cell expression when expressed with CLTRN or ACE2. 4 PublicationsCorresponds to variant dbSNP:rs758492838Ensembl. | 1 | |
Natural variantiVAR_023317 | 242 | L → P in HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; loss of surface expression when expressed coexpressed with CLTRN or ACE2. 2 PublicationsCorresponds to variant dbSNP:rs200745023Ensembl. | 1 | |
Natural variantiVAR_081074 | 265 | P → L in HND; does not affect interaction with ACE2; coexpression with ACE2 increased the transport rate whereas coexpression with CLTRN has the opposite effect. 1 PublicationCorresponds to variant dbSNP:rs148139045Ensembl. | 1 | |
Natural variantiVAR_081075 | 284 | G → R in HND; abolishes amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs200842846Ensembl. | 1 | |
Natural variantiVAR_081076 | 328 | R → C in HND; abolishes amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs142164435Ensembl. | 1 | |
Natural variantiVAR_081077 | 405 | E → K in HND; abolishes amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs765501634Ensembl. | 1 | |
Natural variantiVAR_023319 | 501 | E → K in HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; loss of surface expression when expressed alone or coexpressed with CLTRN or ACE2. 2 PublicationsCorresponds to variant dbSNP:rs1236852017Ensembl. | 1 | |
Natural variantiVAR_081078 | 517 | D → G in HND; abolishes amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs745524993Ensembl. | 1 | |
Natural variantiVAR_081079 | 579 | P → L in HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; loss of surface expression when expressed alone or coexpressed with CLTRN or ACE2. 1 PublicationCorresponds to variant dbSNP:rs751554174Ensembl. | 1 |
Hyperglycinuria (HG)1 Publication
Iminoglycinuria (IG)1 Publication
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 340024 |
MalaCardsi | SLC6A19 |
MIMi | 138500, phenotype 234500, phenotype 242600, phenotype |
OpenTargetsi | ENSG00000174358 |
Orphaneti | 2116, Hartnup disease 42062, Iminoglycinuria |
PharmGKBi | PA134968815 |
Miscellaneous databases
Pharosi | Q695T7, Tchem |
Chemistry databases
DrugCentrali | Q695T7 |
GuidetoPHARMACOLOGYi | 939 |
Genetic variation databases
BioMutai | SLC6A19 |
DMDMi | 73919285 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000214809 | 1 – 634 | Sodium-dependent neutral amino acid transporter B(0)AT1Add BLAST | 634 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 17 | PhosphoserineBy similarity | 1 | |
Glycosylationi | 158 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 182 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 258 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 354 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 368 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 627 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Glycoprotein, PhosphoproteinProteomic databases
jPOSTi | Q695T7 |
MassIVEi | Q695T7 |
PaxDbi | Q695T7 |
PeptideAtlasi | Q695T7 |
PRIDEi | Q695T7 |
ProteomicsDBi | 66151 |
PTM databases
GlyGeni | Q695T7, 5 sites |
iPTMneti | Q695T7 |
PhosphoSitePlusi | Q695T7 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000174358, Expressed in kidney epithelium and 105 other tissues |
ExpressionAtlasi | Q695T7, baseline and differential |
Genevisiblei | Q695T7, HS |
Organism-specific databases
HPAi | ENSG00000174358, Group enriched (intestine, kidney) |
Interactioni
Subunit structurei
Interacts in a tissue-specific manner with ACE2 in small intestine and with CLTRN in the kidney (By similarity).
Interacts with CLTRN; this interaction is required for trafficking of SLC6A19 to the plasma membrane and for its catalytic activation in kidneys (By similarity).
Interacts with ACE2; this interaction is required for trafficking of SLC6A19 to the plasma membrane and for its catalytic activation in intestine (PubMed:32132184).
Interacts with ANPEP; the interaction positively regulates its amino acid transporter activity (By similarity).
By similarity1 PublicationBinary interactionsi
Q695T7
With | #Exp. | IntAct |
---|---|---|
ACE2 [Q9BYF1] | 4 | EBI-25475705,EBI-7730807 |
Protein-protein interaction databases
BioGRIDi | 130985, 1 interactor |
ComplexPortali | CPX-5684, SARS-CoV-2 Spike - human ACE2-SLC6A19 complex |
IntActi | Q695T7, 1 interactor |
STRINGi | 9606.ENSP00000305302 |
Miscellaneous databases
RNActi | Q695T7, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q695T7 |
SMRi | Q695T7 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3659, Eukaryota |
GeneTreei | ENSGT00940000154896 |
HOGENOMi | CLU_006855_7_2_1 |
InParanoidi | Q695T7 |
OMAi | SAKIQMS |
OrthoDBi | 547281at2759 |
PhylomeDBi | Q695T7 |
TreeFami | TF343812 |
Family and domain databases
InterProi | View protein in InterPro IPR000175, Na/ntran_symport IPR002438, Neutral_aa_SLC6 IPR037272, SNS_sf |
PANTHERi | PTHR11616, PTHR11616, 1 hit |
Pfami | View protein in Pfam PF00209, SNF, 1 hit |
PRINTSi | PR00176, NANEUSMPORT PR01206, ORPHTRNSPORT |
SUPFAMi | SSF161070, SSF161070, 1 hit |
PROSITEi | View protein in PROSITE PS00610, NA_NEUROTRAN_SYMP_1, 1 hit PS50267, NA_NEUROTRAN_SYMP_3, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketE9PD72 | E9PD72_HUMAN | Transporter | SLC6A19 | 354 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023314 | 57 | R → C in HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; loss of surface expression when expressed alone or coexpressed with CLTRN or ACE2. 2 PublicationsCorresponds to variant dbSNP:rs762989809Ensembl. | 1 | |
Natural variantiVAR_081070 | 66 | G → R in HND; abolishes amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs1251095994Ensembl. | 1 | |
Natural variantiVAR_081071 | 69 | A → T in HND; increases cell membrane localization in presence of ACE2 or CLTRN; does not affect interaction with ACE2; amino acid transport activity is not activated in presence of ACE2 or CLTRN. 1 Publication | 1 | |
Natural variantiVAR_081072 | 93 | G → R in HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; increases surface cell expression when expressed alone or coexpressed with CLTRN or ACE2. 2 PublicationsCorresponds to variant dbSNP:rs757679627Ensembl. | 1 | |
Natural variantiVAR_023315 | 173 | D → N in HND; population allele frequency among Europeans is 0.007; reduced transport activity by 50% but does not completely inactivates the transporter; coexpression with ACE2 increased the transport rate whereas coexpression with CLTRN has the opposite effect; does not affect interaction with ACE2; decreased cell membrane localization in presence of CLTRN. 2 PublicationsCorresponds to variant dbSNP:rs121434346EnsemblClinVar. | 1 | |
Natural variantiVAR_081073 | 178 – 634 | Missing in HND; abolishes amino acid transport activity. 1 PublicationAdd BLAST | 457 | |
Natural variantiVAR_023316 | 240 | R → Q in HND; does not affect amino acid transport activity when expressed alone; decreases amino acid transport activity in presence of ACE2 or CLTRN; decreased surface cell expression when expressed with CLTRN or ACE2. 4 PublicationsCorresponds to variant dbSNP:rs758492838Ensembl. | 1 | |
Natural variantiVAR_023317 | 242 | L → P in HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; loss of surface expression when expressed coexpressed with CLTRN or ACE2. 2 PublicationsCorresponds to variant dbSNP:rs200745023Ensembl. | 1 | |
Natural variantiVAR_023318 | 252 | V → I Does not affect cell membrane localization; does not affect amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs7732589EnsemblClinVar. | 1 | |
Natural variantiVAR_081074 | 265 | P → L in HND; does not affect interaction with ACE2; coexpression with ACE2 increased the transport rate whereas coexpression with CLTRN has the opposite effect. 1 PublicationCorresponds to variant dbSNP:rs148139045Ensembl. | 1 | |
Natural variantiVAR_081075 | 284 | G → R in HND; abolishes amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs200842846Ensembl. | 1 | |
Natural variantiVAR_081076 | 328 | R → C in HND; abolishes amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs142164435Ensembl. | 1 | |
Natural variantiVAR_081077 | 405 | E → K in HND; abolishes amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs765501634Ensembl. | 1 | |
Natural variantiVAR_023319 | 501 | E → K in HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; loss of surface expression when expressed alone or coexpressed with CLTRN or ACE2. 2 PublicationsCorresponds to variant dbSNP:rs1236852017Ensembl. | 1 | |
Natural variantiVAR_081078 | 517 | D → G in HND; abolishes amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs745524993Ensembl. | 1 | |
Natural variantiVAR_081079 | 579 | P → L in HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; loss of surface expression when expressed alone or coexpressed with CLTRN or ACE2. 1 PublicationCorresponds to variant dbSNP:rs751554174Ensembl. | 1 |
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 |
CCDSi | CCDS34130.1 |
RefSeqi | NP_001003841.1, NM_001003841.2 |
Genome annotation databases
Ensembli | ENST00000304460.11; ENSP00000305302.10; ENSG00000174358.16 |
GeneIDi | 340024 |
KEGGi | hsa:340024 |
MANE-Selecti | ENST00000304460.11; ENSP00000305302.10; NM_001003841.3; NP_001003841.1 |
UCSCi | uc003jbw.5, human |
Similar proteinsi
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 |
CCDSi | CCDS34130.1 |
RefSeqi | NP_001003841.1, NM_001003841.2 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6M17 | electron microscopy | 2.90 | A/C | 2-634 | [»] | |
6M18 | electron microscopy | 2.90 | A/C | 2-634 | [»] | |
6M1D | electron microscopy | 4.50 | A/C | 2-634 | [»] | |
7DWX | electron microscopy | 8.30 | A/C | 2-634 | [»] | |
AlphaFoldDBi | Q695T7 | |||||
SMRi | Q695T7 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 130985, 1 interactor |
ComplexPortali | CPX-5684, SARS-CoV-2 Spike - human ACE2-SLC6A19 complex |
IntActi | Q695T7, 1 interactor |
STRINGi | 9606.ENSP00000305302 |
Chemistry databases
DrugCentrali | Q695T7 |
GuidetoPHARMACOLOGYi | 939 |
Protein family/group databases
TCDBi | 2.A.22.6.3, the neurotransmitter:sodium symporter (nss) family |
PTM databases
GlyGeni | Q695T7, 5 sites |
iPTMneti | Q695T7 |
PhosphoSitePlusi | Q695T7 |
Genetic variation databases
BioMutai | SLC6A19 |
DMDMi | 73919285 |
Proteomic databases
jPOSTi | Q695T7 |
MassIVEi | Q695T7 |
PaxDbi | Q695T7 |
PeptideAtlasi | Q695T7 |
PRIDEi | Q695T7 |
ProteomicsDBi | 66151 |
Protocols and materials databases
Antibodypediai | 22313, 75 antibodies from 21 providers |
DNASUi | 340024 |
Genome annotation databases
Ensembli | ENST00000304460.11; ENSP00000305302.10; ENSG00000174358.16 |
GeneIDi | 340024 |
KEGGi | hsa:340024 |
MANE-Selecti | ENST00000304460.11; ENSP00000305302.10; NM_001003841.3; NP_001003841.1 |
UCSCi | uc003jbw.5, human |
Organism-specific databases
CTDi | 340024 |
DisGeNETi | 340024 |
GeneCardsi | SLC6A19 |
HGNCi | HGNC:27960, SLC6A19 |
HPAi | ENSG00000174358, Group enriched (intestine, kidney) |
MalaCardsi | SLC6A19 |
MIMi | 138500, phenotype 234500, phenotype 242600, phenotype 608893, gene |
neXtProti | NX_Q695T7 |
OpenTargetsi | ENSG00000174358 |
Orphaneti | 2116, Hartnup disease 42062, Iminoglycinuria |
PharmGKBi | PA134968815 |
VEuPathDBi | HostDB:ENSG00000174358 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3659, Eukaryota |
GeneTreei | ENSGT00940000154896 |
HOGENOMi | CLU_006855_7_2_1 |
InParanoidi | Q695T7 |
OMAi | SAKIQMS |
OrthoDBi | 547281at2759 |
PhylomeDBi | Q695T7 |
TreeFami | TF343812 |
Enzyme and pathway databases
PathwayCommonsi | Q695T7 |
Reactomei | R-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) |
SignaLinki | Q695T7 |
Miscellaneous databases
BioGRID-ORCSi | 340024, 14 hits in 1067 CRISPR screens |
ChiTaRSi | SLC6A19, human |
GeneWikii | SLC6A19 |
GenomeRNAii | 340024 |
Pharosi | Q695T7, Tchem |
PROi | PR:Q695T7 |
RNActi | Q695T7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000174358, Expressed in kidney epithelium and 105 other tissues |
ExpressionAtlasi | Q695T7, baseline and differential |
Genevisiblei | Q695T7, HS |
Family and domain databases
InterProi | View protein in InterPro IPR000175, Na/ntran_symport IPR002438, Neutral_aa_SLC6 IPR037272, SNS_sf |
PANTHERi | PTHR11616, PTHR11616, 1 hit |
Pfami | View protein in Pfam PF00209, SNF, 1 hit |
PRINTSi | PR00176, NANEUSMPORT PR01206, ORPHTRNSPORT |
SUPFAMi | SSF161070, SSF161070, 1 hit |
PROSITEi | View protein in PROSITE PS00610, NA_NEUROTRAN_SYMP_1, 1 hit PS50267, NA_NEUROTRAN_SYMP_3, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | S6A19_HUMAN | |
Accessioni | Q695T7Primary (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: | May 25, 2022 | |
This is version 145 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families