SLC6A19 - solute carrier family 6 member 19 Gene

Also Known as HND; B0AT1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 340024

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

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables neutral L-amino acid transmembrane transporter activity IDA
IDA: Inferred from direct assay
18424768 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
19185582 GOA
Cellular Component GO Annotation Evidence References Source
located in apical plasma membrane IDA
IDA: Inferred from direct assay
18424768 GOA
located in brush border membrane IDA
IDA: Inferred from direct assay
25534429 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC6A19 Protein Structure

SNF

SNF: Sodium:neurotransmitter symporter family (32 - 607)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 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

  • IG
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

  • Clinical Phase
  • Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Phase
HY-156682 JNT-517 Inhibitor 99.00% Phase 3

Pre-clinical Phase

Bioactive Molecules (8)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-B1274 Cinromide Inhibitor 99.83% Unkown
HY-162864 JX237 Inhibitor 98.84% Unkown
HY-179581 SLC6A19-IN-4 Inhibitor 99.55% Unkown
HY-158161 JN-170 Inhibitor / Unkown
HY-176873 SLC6A19-IN-2 Inhibitor / Unkown
HY-179107 SLC6A19-IN-3 Inhibitor / Unkown
HY-RS13305 SLC6A19 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-179689 SLC6A19-IN-5 Inhibitor / 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
Others SLC6A19 NCBI