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

Gene ID: 340024, updated on 8-Jul-2021

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
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
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Genomic context

See SLC6A19 in Genome Data Viewer
Location:
5p15.33
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (1201595..1225111)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (1201710..1225226)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 12 member 7 Neighboring gene uncharacterized LOC107986396 Neighboring gene uncharacterized LOC101928857 Neighboring gene solute carrier family 6 member 18 Neighboring gene MNS16A minisatellite promoter

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
GeneReviews: Not available
Hyperglycinuria
MedGen: C0543541 OMIM: 138500 GeneReviews: Not available
Compare labs
Iminoglycinuria
MedGen: C0268654 OMIM: 242600 GeneReviews: Not available
Compare labs
Neutral 1 amino acid transport defect
MedGen: C0018609 OMIM: 234500 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ20680, FLJ34635

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables amino acid transmembrane transporter activity TAS
Traceable Author Statement
more info
 
enables neutral 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 IEA
Inferred from Electronic Annotation
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
PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in brush border membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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

Genomic

  1. NG_008282.1 RefSeqGene

    Range
    5001..28517
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001003841.1

    Status: REVIEWED

    Source sequence(s)
    AC114291, AI015994, AK290811, AY596807
    Consensus CDS
    CCDS34130.1
    UniProtKB/Swiss-Prot
    Q695T7
    Related
    ENSP00000305302.10, ENST00000304460.11
    Conserved Domains (1) summary
    cl00456
    Location:32612
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    1201595..1225111
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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