SLC6A19 solute carrier family 6 member 19 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC6A19provided by HGNC
Official Full Name: solute carrier family 6 member 19provided by HGNC
Primary source: HGNC:HGNC:27960
See related: Ensembl:ENSG00000174358 MIM:608893; AllianceGenome:HGNC:27960
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HND; B0AT1
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]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
Expression: Biased expression in small intestine (RPKM 76.0), duodenum (RPKM 71.7) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 5p15.33

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (1201595..1225111)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (1108484..1132085)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (1201710..1225226)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unraveling the Role of ACE2, the Binding Receptor for SARS-CoV-2, in Inflammatory Bowel Disease.
Title: Unraveling the Role of ACE2, the Binding Receptor for SARS-CoV-2, in Inflammatory Bowel Disease.
Functional characterization of sodium-coupled neutral "amino acid transport system B" in apical brush border membrane of an intact intestinal cell.
Title: Differentiation- and protein kinase C-dependent regulation of alanine transport via system B.
The ACE2-B0AT1 complex exists as a dimer of heterodimers. Structural alignment of the RBD-ACE2-B0AT1 ternary complex with the S protein of SARS-CoV-2 suggests that two S protein trimers can simultaneously bind to an ACE2 homodimer.
Title: Structural basis for the recognition of SARS-CoV-2 by full-length human ACE2.
discovered a heterozygous missense mutation (c700G to A [pG234S) in the SLC6A1 encoding GABA transporter 1
Title: A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function.
SIT1, B(0)AT1 and ACE2 were co-localized in the brush-border membrane of small intestine enterocytes.
Title: Human intestine luminal ACE2 and amino acid transporter expression increased by ACE-inhibitors.
PKB/Akt up-regulates SLC6A19 activity, which may foster amino acid uptake into PKB/Akt-expressing epithelial and tumor cells.
Title: Up-regulation of amino acid transporter SLC6A19 activity and surface protein abundance by PKB/Akt and PIKfyve.
JAK2 up-regulates SLC6A19 activity which may foster amino acid uptake into JAK2 expressing cells.
Title: Stimulation of the amino acid transporter SLC6A19 by JAK2.
Average loss of solute carrier expression was similar in acute tubular necrosis (77%) and T cell-mediated rejection (75%) with high correlation of individual transcripts.
Title: Loss of solute carriers in T cell-mediated rejection in mouse and human kidneys: an active epithelial injury-repair response.
A novel SLC6A19 gene mutation is associated with late-onset seizures in a Korean patient with Hartnup disorder.
Title: Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.
novel homozygous mutation of G284R in the transmembrane domain of the SLC6A19 transporter found in the proband, with typical dermatologic and neurologic manifestations and increased levels of urinary neutral amino acids
Title: A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neutral 1 amino acid transport defect MedGen: C0018609 OMIM: 234500 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

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See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables amino acid transmembrane transporter activity	TAS Traceable Author Statement more info
enables neutral L-amino acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables neutral L-amino acid transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables symporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in amino acid transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in amino acid transport	TAS Traceable Author Statement more info
involved_in neutral amino acid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in viral life cycle	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in brush border membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in brush border membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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

Names: broad neutral amino acid transporter 1; sodium-dependent amino acid transporter system B0; solute carrier family 6 (neurotransmitter transporter), member 19; solute carrier family 6 (neutral amino acid transporter), member 19; system B(0) neutral amino acid transporter AT1; system B0 neutral amino acid transporter

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.