Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	340024
Gene name	Solute carrier family 6 member 19
Gene symbol	SLC6A19
Synonyms (NCBI Gene)	B0AT1HND
Chromosome	5
Chromosome location	5p15.33
Summary	This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene may result in Hartnup disorder, an inherited disease with symptoms such as pella

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35329108	G>A,T	Pathogenic	Intron variant
rs121434346	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121434347	C>T	Pathogenic	Stop gained, coding sequence variant
rs142979576	T>C,G	Pathogenic	Splice donor variant
rs369804798	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs762942358	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs778611489	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554033750	C>G	Likely-pathogenic	Coding sequence variant, stop gained

Show/Hide all (86)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019476	hsa-miR-148b-3p	Microarray	17612493
MIRT1366187	hsa-miR-1207-3p	CLIP-seq
MIRT1366188	hsa-miR-1208	CLIP-seq
MIRT1366189	hsa-miR-1276	CLIP-seq
MIRT1366190	hsa-miR-140-3p	CLIP-seq
MIRT1366191	hsa-miR-193a-3p	CLIP-seq
MIRT1366192	hsa-miR-193b	CLIP-seq
MIRT1366193	hsa-miR-214	CLIP-seq
MIRT1366194	hsa-miR-219-5p	CLIP-seq
MIRT1366195	hsa-miR-2278	CLIP-seq
MIRT1366196	hsa-miR-3138	CLIP-seq
MIRT1366197	hsa-miR-3183	CLIP-seq
MIRT1366198	hsa-miR-329	CLIP-seq
MIRT1366199	hsa-miR-3619-5p	CLIP-seq
MIRT1366200	hsa-miR-362-3p	CLIP-seq
MIRT1366201	hsa-miR-3664-5p	CLIP-seq
MIRT1366202	hsa-miR-3679-3p	CLIP-seq
MIRT1366203	hsa-miR-3689a-3p	CLIP-seq
MIRT1366204	hsa-miR-3689c	CLIP-seq
MIRT1366205	hsa-miR-3918	CLIP-seq
MIRT1366206	hsa-miR-3926	CLIP-seq
MIRT1366207	hsa-miR-4291	CLIP-seq
MIRT1366208	hsa-miR-4491	CLIP-seq
MIRT1366209	hsa-miR-4639-3p	CLIP-seq
MIRT1366210	hsa-miR-4645-3p	CLIP-seq
MIRT1366211	hsa-miR-4657	CLIP-seq
MIRT1366212	hsa-miR-4685-5p	CLIP-seq
MIRT1366213	hsa-miR-4723-3p	CLIP-seq
MIRT1366214	hsa-miR-4728-5p	CLIP-seq
MIRT1366215	hsa-miR-4733-3p	CLIP-seq
MIRT1366216	hsa-miR-4755-3p	CLIP-seq
MIRT1366217	hsa-miR-4782-3p	CLIP-seq
MIRT1366218	hsa-miR-4800-5p	CLIP-seq
MIRT1366219	hsa-miR-487a	CLIP-seq
MIRT1366220	hsa-miR-488	CLIP-seq
MIRT1366221	hsa-miR-517b	CLIP-seq
MIRT1366222	hsa-miR-542-3p	CLIP-seq
MIRT1366223	hsa-miR-572	CLIP-seq
MIRT1366224	hsa-miR-596	CLIP-seq
MIRT1366225	hsa-miR-635	CLIP-seq
MIRT1366226	hsa-miR-660	CLIP-seq
MIRT1366227	hsa-miR-668	CLIP-seq
MIRT1366228	hsa-miR-761	CLIP-seq
MIRT1366229	hsa-miR-892b	CLIP-seq
MIRT1366230	hsa-miR-922	CLIP-seq
MIRT2108717	hsa-miR-1228	CLIP-seq
MIRT1366198	hsa-miR-329	CLIP-seq
MIRT2108718	hsa-miR-342-3p	CLIP-seq
MIRT1366200	hsa-miR-362-3p	CLIP-seq
MIRT2108719	hsa-miR-377	CLIP-seq
MIRT2108720	hsa-miR-3941	CLIP-seq
MIRT2108721	hsa-miR-4726-3p	CLIP-seq
MIRT1366215	hsa-miR-4733-3p	CLIP-seq
MIRT2108722	hsa-miR-4789-3p	CLIP-seq
MIRT2108723	hsa-miR-4789-5p	CLIP-seq
MIRT2108724	hsa-miR-603	CLIP-seq
MIRT2332344	hsa-miR-1293	CLIP-seq
MIRT2332345	hsa-miR-1915	CLIP-seq
MIRT2332346	hsa-miR-3132	CLIP-seq
MIRT1366198	hsa-miR-329	CLIP-seq
MIRT2332347	hsa-miR-3591-3p	CLIP-seq
MIRT1366200	hsa-miR-362-3p	CLIP-seq
MIRT2108719	hsa-miR-377	CLIP-seq
MIRT2108720	hsa-miR-3941	CLIP-seq
MIRT2332348	hsa-miR-4447	CLIP-seq
MIRT2332349	hsa-miR-4472	CLIP-seq
MIRT2332350	hsa-miR-4483	CLIP-seq
MIRT2332351	hsa-miR-451b	CLIP-seq
MIRT2332352	hsa-miR-4651	CLIP-seq
MIRT1366212	hsa-miR-4685-5p	CLIP-seq
MIRT2108721	hsa-miR-4726-3p	CLIP-seq
MIRT2108722	hsa-miR-4789-3p	CLIP-seq
MIRT2332353	hsa-miR-499-3p	CLIP-seq
MIRT2332354	hsa-miR-499a-3p	CLIP-seq
MIRT2108724	hsa-miR-603	CLIP-seq
MIRT2332355	hsa-miR-608	CLIP-seq
MIRT2394805	hsa-miR-4666-5p	CLIP-seq
MIRT2459842	hsa-miR-105	CLIP-seq
MIRT1366198	hsa-miR-329	CLIP-seq
MIRT2459843	hsa-miR-3622b-5p	CLIP-seq
MIRT1366200	hsa-miR-362-3p	CLIP-seq
MIRT2108720	hsa-miR-3941	CLIP-seq
MIRT2459844	hsa-miR-4719	CLIP-seq
MIRT2459845	hsa-miR-4720-5p	CLIP-seq
MIRT2459846	hsa-miR-4799-3p	CLIP-seq
MIRT2108724	hsa-miR-603	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003333	Process	Amino acid transmembrane transport	IEA
GO:0005515	Function	Protein binding	IPI	19185582, 32132184, 34189428
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006865	Process	Amino acid transport	IEA
GO:0006865	Process	Amino acid transport	TAS
GO:0007584	Process	Response to nutrient	IEA
GO:0015171	Function	Amino acid transmembrane transporter activity	TAS
GO:0015175	Function	Neutral L-amino acid transmembrane transporter activity	IBA
GO:0015175	Function	Neutral L-amino acid transmembrane transporter activity	IDA	18424768
GO:0015175	Function	Neutral L-amino acid transmembrane transporter activity	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015804	Process	Neutral amino acid transport	IBA
GO:0015804	Process	Neutral amino acid transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	18424768
GO:0016324	Component	Apical plasma membrane	IEA
GO:0019058	Process	Viral life cycle	NAS	33737693
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0031526	Component	Brush border membrane	IBA
GO:0031526	Component	Brush border membrane	IDA	25534429
GO:0031526	Component	Brush border membrane	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
608893	27960	ENSG00000174358

Q695T7

Protein name

Sodium-dependent neutral amino acid transporter B(0)AT1 (Solute carrier family 6 member 19) (System B(0) neutral amino acid transporter AT1)

Protein function

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 i

PDB

6M17 , 6M18 , 6M1D , 7DWX , 7V61 , 8I92 , 8I93 , 8WBY , 8WBZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00209	SNF	32 → 608	Sodium:neurotransmitter symporter family	Family

Tissue specificity

TISSUE SPECIFICITY: Robust expression in kidney and small intestine, with minimal expression in pancreas (PubMed:15286787, PubMed:18424768). Also expressed in stomach, liver, duodenum, ileocecum, colon and prostate. Not detected in testis, whole brain, ce

Sequence

MVRLVLPNPGLDARIPSLAELETIEQEEASSRPKWDNKAQYMLTCLGFCVGLGNVWRFPY
LCQSHGGGAFMIPFLILLVLEGIPLLYLEFAIGQRLRRGSLGVWSSIHPALKGLGLASML
TSFMVGLYYNTIISWIMWYLFNSFQEPLPWSDCPLNENQTGYVDECARSSPVDYFWYRET
LNISTSISDSGSIQWWMLLCLACAWSVLYMCTIRGIETTGKAVYITSTLPYVVLTIFLIR
GLTLKGATNGIVFLFTPNVTELAQPDTWLDAGAQVFFSFSLAFGGLISFSSYNSVHNNCE
KDSVIVSIINGFTSVYVAIVVYSVIGFRATQRYDDCFSTNILTLINGFDLPEGNVTQENF
VDMQQRCNASDPAAYAQLVFQTCDINAFLSEAVEGTGLAFIVFTEAITKMPLSPLWSVLF
FIMLFCLGLSSMFGNMEGVVVPLQDLRVIPPKWPKEVLTGLICLGTFLIGFIFTLNSGQY
WLSLLDSYAGSIPLLIIAFCEMFSVVYVYGVDRFNKDIEFMIGHKPNIFWQVTWRVVSPL
LMLIIFLFFFVVEVSQELTYSIWDPGYEEFPKSQKISYPNWVYVVVVIVAGVPSLTIPGY
AIYKLIRNHCQKPGDHQGLVSTLSTASMNGDLKY

Sequence length

634

Interactions

View interactions

	KEGG		Reactome
	Protein digestion and absorption Mineral absorption		Amino acid transport across the plasma membrane Na+/Cl- dependent neurotransmitter transporters Defective SLC6A19 causes Hartnup disorder (HND) Defective SLC6A19 causes Hartnup disorder (HND)

285

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hyperglycinuria	Likely pathogenic; Pathogenic	rs554777392, rs121434346, rs121434347, rs2477939209, rs147837686	RCV002476847 RCV000763127 RCV002482814 RCV003337756 RCV001536072
Iminoglycinuria	Likely pathogenic; Pathogenic	rs554777392, rs121434346, rs121434347, rs147837686	RCV002476847 RCV000763127 RCV002482814 RCV001536072
Neutral 1 amino acid transport defect	Likely pathogenic; Pathogenic	rs554777392, rs757679627, rs745524993, rs778611489, rs121434346, rs121434347, rs200842846, rs1236852017, rs146608591, rs759094266, rs2477951256, rs142979576, rs1746389144, rs147837686	RCV002476847 RCV005397229 RCV002283376 RCV000002095 RCV000002096 RCV000002097 RCV005034829 RCV005034830 RCV003128306 RCV003129594 RCV003226087 RCV000002094 RCV001171523 RCV001174897
SLC6A19-related disorder	Likely pathogenic; Pathogenic	rs121434346, rs142979576, rs147837686	RCV003415626 RCV003905313 RCV003413970

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Benign	rs114350709	RCV005911633
High myopia	Conflicting classifications of pathogenicity	rs756010661	RCV000785715
Iminoglycinuria, digenic	Benign	rs35329108	RCV000002098
Malignant tumor of esophagus	Uncertain significance	rs762081099	RCV005934821

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
2 Methylbutyryl CoA Dehydrogenase Deficiency	Associate	35236679
Bacterial Infections	Associate	32772343
COVID 19	Associate	32772343, 34198852, 34847569
Hypertension Pulmonary	Associate	26352407
Iminoglycinuria	Associate	19033659
Neoplasms	Associate	30865299, 32772343
Neurologic Manifestations	Associate	35868344
Post Acute COVID 19 Syndrome	Associate	34847569
Pulmonary Atelectasis	Associate	34089082
Signs and Symptoms	Associate	34847569
Stomach Neoplasms	Associate	40102553

SLC6A19 (solute carrier family 6 member 19)