SLC6A19

Functionⁱ

Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells (PubMed:18424768, PubMed:18484095, PubMed:19185582, PubMed:26240152). This uptake is sodium-dependent and chloride-independent (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).5 Publications

GO - Molecular functionⁱ

neutral amino acid transmembrane transporter activity
Source: UniProtKB
Inferred from direct assayⁱ
- Ref.6
  "A protein complex in the brush-border membrane explains a Hartnup disorder allele."
  Kowalczuk S., Broeer A., Tietze N., Vanslambrouck J.M., Rasko J.E., Broeer S.
  FASEB J. 22:2880-2887(2008) [PubMed] [Europe PMC] [Abstract]
  Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, CHARACTERIZATION OF VARIANT HND GLN-240.
symporter activity Source: UniProtKB-KW

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Amino-acid transport, Symport, Transport

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)

Protein family/group databases

TCDBⁱ	2.A.22.6.3, the neurotransmitter:sodium symporter (nss) family

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)AT1 Alternative 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	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 5

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:27960, SLC6A19
MIMⁱ	608893, gene
neXtProtⁱ	NX_Q695T7
VEuPathDBⁱ	HostDB:ENSG00000174358.15

Topology

Feature key	Position(s)	DescriptionActions	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, Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Hartnup disorder (HND)5 Publications

The disease is caused by variants 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.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	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 actived 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

The disease may be caused by variants 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.

Related information in OMIM

Iminoglycinuria (IG)1 Publication

The disease may be caused by variants 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.

Related information in OMIM

Keywords - Diseaseⁱ

Disease variant

Organism-specific databases

DisGeNET More...DisGeNETⁱ	340024
MalaCards human disease database More...MalaCardsⁱ	SLC6A19
MIMⁱ	138500, phenotype 234500, phenotype 242600, phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000174358
Orphanetⁱ	2116, Hartnup disease 42062, Iminoglycinuria
PharmGKBⁱ	PA134968815

Miscellaneous databases

Pharosⁱ	Q695T7, Tchem

Pharosⁱ

Q695T7, Tchem

Chemistry databases

DrugCentral More...DrugCentralⁱ	Q695T7
IUPHAR/BPS Guide to PHARMACOLOGY More...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	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, Phosphoprotein

Proteomic databases

jPOSTⁱ	Q695T7
MassIVEⁱ	Q695T7
PaxDbⁱ	Q695T7
PeptideAtlas More...PeptideAtlasⁱ	Q695T7
PRIDEⁱ	Q695T7
ProteomicsDBⁱ	66151

PTM databases

GlyGenⁱ	Q695T7, 5 sites
iPTMnetⁱ	Q695T7
PhosphoSitePlusⁱ	Q695T7

Expressionⁱ

Tissue specificityⁱ

Robust expression in kidney and small intestine, with minimal expression in pancreas (PubMed:18424768, PubMed:15286787). 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.3 Publications

Gene expression databases

Bgeeⁱ	ENSG00000174358, Expressed in kidney epithelium and 105 other tissues
ExpressionAtlasⁱ	Q695T7, baseline and differential
Genevisibleⁱ	Q695T7, HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000174358, Tissue enriched (intestine)

HPAⁱ

ENSG00000174358, Tissue enriched (intestine)

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 Publication

Binary interactionsⁱ

Q695T7

With	#Exp.	IntAct
ACE2 [Q9BYF1]	3	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

RNActⁱ

Q695T7, protein

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	18 – 20	Combined sources	3
Helixⁱ	21 – 24	Combined sources	4
Helixⁱ	25 – 27	Combined sources	3
Turnⁱ	29 – 31	Combined sources	3
Helixⁱ	38 – 49	Combined sources	12
Beta strandⁱ	50 – 56	Combined sources	7
Helixⁱ	57 – 64	Combined sources	8
Helixⁱ	71 – 75	Combined sources	5
Helixⁱ	77 – 81	Combined sources	5
Helixⁱ	83 – 96	Combined sources	14
Helixⁱ	100 – 104	Combined sources	5
Helixⁱ	113 – 141	Combined sources	29
Beta strandⁱ	144 – 147	Combined sources	4
Helixⁱ	149 – 151	Combined sources	3
Beta strandⁱ	157 – 162	Combined sources	6
Helixⁱ	164 – 168	Combined sources	5
Helixⁱ	173 – 176	Combined sources	4
Turnⁱ	177 – 180	Combined sources	4
Beta strandⁱ	185 – 188	Combined sources	4
Helixⁱ	195 – 202	Combined sources	8
Helixⁱ	204 – 211	Combined sources	8
Beta strandⁱ	212 – 215	Combined sources	4
Turnⁱ	216 – 220	Combined sources	5
Helixⁱ	221 – 223	Combined sources	3
Turnⁱ	224 – 228	Combined sources	5
Helixⁱ	229 – 232	Combined sources	4
Helixⁱ	234 – 241	Combined sources	8
Beta strandⁱ	244 – 246	Combined sources	3
Beta strandⁱ	248 – 250	Combined sources	3
Helixⁱ	251 – 255	Combined sources	5
Helixⁱ	260 – 263	Combined sources	4
Helixⁱ	266 – 278	Combined sources	13
Beta strandⁱ	282 – 284	Combined sources	3
Helixⁱ	285 – 290	Combined sources	6
Helixⁱ	301 – 316	Combined sources	16
Helixⁱ	318 – 348	Combined sources	31
Turnⁱ	352 – 354	Combined sources	3
Beta strandⁱ	357 – 359	Combined sources	3
Helixⁱ	360 – 370	Combined sources	11
Helixⁱ	374 – 377	Combined sources	4
Beta strandⁱ	387 – 389	Combined sources	3
Turnⁱ	397 – 402	Combined sources	6
Helixⁱ	403 – 407	Combined sources	5
Beta strandⁱ	410 – 412	Combined sources	3
Helixⁱ	413 – 421	Combined sources	9
Helixⁱ	423 – 444	Combined sources	22
Turnⁱ	445 – 447	Combined sources	3
Helixⁱ	455 – 457	Combined sources	3
Helixⁱ	458 – 461	Combined sources	4
Helixⁱ	464 – 467	Combined sources	4
Helixⁱ	469 – 473	Combined sources	5
Helixⁱ	478 – 488	Combined sources	11
Turnⁱ	489 – 491	Combined sources	3
Helixⁱ	493 – 506	Combined sources	14
Turnⁱ	507 – 510	Combined sources	4
Helixⁱ	511 – 521	Combined sources	11
Helixⁱ	528 – 535	Combined sources	8
Turnⁱ	536 – 543	Combined sources	8
Helixⁱ	544 – 553	Combined sources	10
Beta strandⁱ	554 – 556	Combined sources	3
Beta strandⁱ	559 – 562	Combined sources	4
Beta strandⁱ	567 – 569	Combined sources	3
Beta strandⁱ	574 – 577	Combined sources	4
Helixⁱ	582 – 591	Combined sources	10
Turnⁱ	592 – 594	Combined sources	3
Helixⁱ	597 – 606	Combined sources	10

Show more details

3D structure databases

SMRⁱ	Q695T7
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

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

eggNOGⁱ	KOG3659, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000154896
HOGENOMⁱ	CLU_006855_7_2_1
InParanoidⁱ	Q695T7
OMAⁱ	GSIQWWM
Database of Orthologous Groups More...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
Pfam protein domain database More...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

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show all Align All

Q695T7-1 [UniParc]FASTA Add 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

Computationally mapped potential isoform sequencesⁱ

There is 1 potential isoform mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	E9PD72	E9PD72_HUMAN		Transporter Transporter	SLC6A19	354	Annotation score:

Natural variant

Feature key	Position(s)	DescriptionActions	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 actived 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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS34130.1
NCBI Reference Sequences More...RefSeqⁱ	NP_001003841.1, NM_001003841.2

Genome annotation databases

Ensemblⁱ	ENST00000304460; ENSP00000305302; ENSG00000174358
GeneIDⁱ	340024
KEGGⁱ	hsa:340024
UCSC genome browser More...UCSCⁱ	uc003jbw.5, human

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q695T7	Sodium-dependent neutral amino acid transporter B(0)AT1		PONAB		634	UniRef90_Q695T7
Transporter		MACMU		691
Transporter		PAPAN		691
Transporter		MACFA		691
Transporter		MACNE		691
+34

Protein	Similar proteins		Species	Score	Length	Source
Q695T7	Sodium-dependent neutral amino acid transporter B(0)AT1		PONAB		634	UniRef50_Q695T7
Transporter		MACFA		691
Transporter		MACNE		691
Transporter		PAPAN		691
Transporter		MACMU		691
+46

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: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...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	[»]
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

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, 64 antibodies
The DNASU plasmid repository More...DNASUⁱ	340024

Genome annotation databases

Ensemblⁱ	ENST00000304460; ENSP00000305302; ENSG00000174358
GeneIDⁱ	340024
KEGGⁱ	hsa:340024
UCSCⁱ	uc003jbw.5, human

Organism-specific databases

CTDⁱ	340024
DisGeNETⁱ	340024
GeneCardsⁱ	SLC6A19
HGNCⁱ	HGNC:27960, SLC6A19
HPAⁱ	ENSG00000174358, Tissue enriched (intestine)
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:ENSG00000174358.15
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3659, Eukaryota
GeneTreeⁱ	ENSGT00940000154896
HOGENOMⁱ	CLU_006855_7_2_1
InParanoidⁱ	Q695T7
OMAⁱ	GSIQWWM
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)

Miscellaneous databases

BioGRID-ORCSⁱ	340024, 6 hits in 984 CRISPR screens
ChiTaRSⁱ	SLC6A19, human
GeneWikiⁱ	SLC6A19
GenomeRNAiⁱ	340024
Pharosⁱ	Q695T7, Tchem
Protein Ontology More...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
ProtoNetⁱ	Search...
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:	April 7, 2021
	This is version 141 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 proteome

Documents

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

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UniProtKB - Q695T7 (S6A19_HUMAN)

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

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Q695T7

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

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Keywords - Domainⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ