SLC6A19 - solute carrier family 6 member 19 Gene

Homo sapiens

Also known as HND; B0AT1

Gene ID: 340024 | Gene type: protein coding

About SLC6A19

Cytogenetic location: 5p15.33 Genomic coordinates (GRCh38): 5:1,201,595-1,225,111 (from NCBI)

This gene has 2 transcripts (splice variants), 363 orthologues, 19 paralogues and is associated with 6 phenotypes. Biased expression in small intestine (RPKM 76.0), duodenum (RPKM 71.7) and 1 other tissue.

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 pellagra, cerebellar ataxia, and psychosis. The expression and function of B0AT1 (SLC6A19) in intestinal cells depends on the presence of the accessory protein angiotensin-converting Enzyme 2 (ACE2) which, among other functions, acts as a chaperone for membrane trafficking of B0AT1. The ACE2 is also the cellular receptor for severe acute respiratory syndrome-coronavirus (SARS-CoV) and for SARS-CoV-2 that is causing the coronavirus 2019 (COVID-19) pandemic [provided by RefSeq, Jul 2020]

SLC6A19 Products(1)

mRNA	Protein	Name
NM_001003841.3	NP_001003841.1	sodium-dependent neutral amino acid transporter B(0)AT1

SLC6A19 Protein Structure

SNF

0
100
200
300
400
500
634 a.a.

Protein Preferred Names

Protein Names

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

broad neutral amino acid transporter 1

Related Diseases

Diseases

Alias

Hartnup Disorder

Hartnup Disease	HND
Neutral 1 Amino Acid Transport Defect	Neutral Amino Acid Transport Defect
Deficiency Of Tryptophan Oxygenase	Hartnup'S Disease
Aminoaciduria, Hartnup Type	Disorder Of Neutral Amino Acid Transport

Hyperglycinuria

Glycinuria With Or Without Oxalate Urolithiasis	Glycinuria With Or Without Oxalate Nephrolithiasis
Iminoglycinuria Type Ii	HG

Iminoglycinuria

Iminoglycinuria, Digenic

Pellagra

Niacin Deficiency	Niacin-Tryptophan Deficiency
Pellagroid Syndrome

Aminoaciduria

Covid-19

2019 Novel Coronavirus	2019-Ncov Infection
Covid19	Sars-Cov-2 Infection
Wuhan Coronavirus Infection	Wuhan Seafood Market Pneumonia Virus Infection

Lennox-Gastaut Syndrome

Lennox Syndrome	Encephalopathy Of Childhood
Epileptic Encephalopathy Lennox-Gastaut Type	Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves
Lgs

Severe Acute Respiratory Syndrome

Sars	Sars-Cov Infection
Sars-1	Sar Deficiency
Sars - [Severe Acute Respiratory Syndrome]

Digenic Disease

Cystinuria

CSNU	Cystinuria Type B
Cystinuria Type A	Cystinuria, Type I, Formerly
Csnu1, Formerly	Cystinuria, Type Ii, Formerly
Cystinuria, Type Iii, Formerly	Csnu3, Formerly
Cystinuria, Type Non-I, Formerly	Cystinuria-Lysinuria
Cystinuria-Lysinuria Syndrome	Csnu1
Csnu3	Cystinuria 1
Cystinuria Type A/B	Cystinuria Type I
Cystinuria Type Ii	Cystinuria Type Iii
Cystinuria Type Non-I	Cystinuria, Type A/B
Cystinuria Type 1	Cystinuria - Lysinuria
Csnu - [Cystinuria]	Cystine Disease

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors	Inborn Errors Of Amino Acid Metabolism
Disorder Of Amino Acid Metabolism	Amino Acid Metabolism Disorders

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B1274	Cinromide	Inhibitor	99.57%	Unkown
HY-156682	JNT-517		/	Unkown
HY-RS13305	SLC6A19 Human Pre-designed siRNA Set A		/	Unkown
HY-158161	SLC6A19-IN-1		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SLC6A19	RGD	RGD:1594328
Macaca mulatta	SLC6A19	VGNC	VGNC:77782
Mus musculus	SLC6A19	MGD	MGI:1921588
Canis familiaris	SLC6A19	VGNC	VGNC:46461
Bos taurus	SLC6A19	VGNC	VGNC:34919

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