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

Gene ID: 340024, updated on 10-Dec-2024

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
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Genomic context

See SLC6A19 in Genome Data Viewer
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_000005.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 12 member 7 Neighboring gene uncharacterized LOC107986396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1131579-1132112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1137285-1137817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1140609-1141452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1152429-1152954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1167671-1168192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1168193-1168712 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80773 Neighboring gene uncharacterized LOC124900189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1187033-1187726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1187727-1188419 Neighboring gene TERT regulating lncRNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1195313-1196120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1196121-1196928 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1204178-1204741 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1225890-1226432 Neighboring gene solute carrier family 6 member 18 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1264322-1264939 Neighboring gene MNS16A minisatellite promoter Neighboring gene Sharpr-MPRA regulatory region 13256 Neighboring gene telomerase reverse transcriptase Neighboring gene TERT enhancer in intron 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1290609-1291360 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1291361-1292111 Neighboring gene TERT 5' regulatory region

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
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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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 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

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.

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
    A8K446, 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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    1108484..1132085
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352501.1XP_054208476.1  sodium-dependent neutral amino acid transporter B(0)AT1 isoform X1

    UniProtKB/Swiss-Prot
    A8K446, Q695T7