Slc6a19 solute carrier family 6 (neurotransmitter transporter), member 19 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc6a19provided by MGI
Official Full Name: solute carrier family 6 (neurotransmitter transporter), member 19provided by MGI
Primary source: MGI:MGI:1921588
See related: Ensembl:ENSMUSG00000021565 AllianceGenome:MGI:1921588
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: B<0>AT1; 4632401C08Rik
Summary: Enables neutral amino acid transmembrane transporter activity. Acts upstream of or within neutral amino acid transport. Located in apical plasma membrane and brush border membrane. Is expressed in metanephros. Used to study Hartnup disease. Human ortholog(s) of this gene implicated in Hartnup disease and iminoglycinuria. Orthologous to human SLC6A19 (solute carrier family 6 member 19). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in kidney adult (RPKM 169.0), large intestine adult (RPKM 126.9) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 C1; 13 40.14 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (73827864..73848899, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (73679745..73700780, complement)

Chromosome 13 - NC_000079.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Stage-Specific L-Proline Uptake by Amino Acid Transporter Slc6a19/B[0]AT1 Is Required for Optimal Preimplantation Embryo Development in Mice.
Title: Stage-Specific L-Proline Uptake by Amino Acid Transporter Slc6a19/B(0)AT1 Is Required for Optimal Preimplantation Embryo Development in Mice.
Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice.
Title: Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice.
Absorption of essential amino acids is reduced significantly in the absence of SLC6A19, especially following a high-protein diet.
Title: Mice Lacking the Intestinal and Renal Neutral Amino Acid Transporter SLC6A19 Demonstrate the Relationship between Dietary Protein Intake and Amino Acid Malabsorption.
analysis of the interaction of amino acid transporters B0AT1 and B0AT3 with their ancillary protein collectrin
Title: Molecular basis for the interaction of the mammalian amino acid transporters B0AT1 and B0AT3 with their ancillary protein collectrin.
Slc6a19 expression in the intestine is regulated at three different levels involving promoter methylation, histone modification, and opposing transcription factors.
Title: Enterocyte-specific regulation of the apical nutrient transporter SLC6A19 (B(0)AT1) by transcriptional and epigenetic networks.
the presence of digestive protein complexes in the intestinal brush-border containing the peptidases APN and ACE2 and the neutral amino acid transporter B0AT1
Title: Intestinal peptidases form functional complexes with the neutral amino acid transporter B(0)AT1.
Impaired nutrient signaling and body weight control in a Na+ neutral amino acid cotransporter (Slc6a19)-deficient mouse.
Title: Impaired nutrient signaling and body weight control in a Na+ neutral amino acid cotransporter (Slc6a19)-deficient mouse.
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.
Glucocorticoid inducible kinase isoforms SGK1-3 are novel potent stimulators of Slc6a19 and may thus participate in the regulation of neutral amino acid transport in vivo.
Title: The serum and glucocorticoid inducible kinases SGK1-3 stimulate the neutral amino acid transporter SLC6A19.
functional association of mutant B(0)AT1 transporters with ACE2 and collectrin in intestine and kidney, respectively, participates in the phenotypic heterogeneity of Hartnup disorder
Title: Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Spontaneous (2)
Targeted (3) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:487593

Slc6a19 (e-PCR), detects polymorphism
- UniSTS:546021

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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 neutral L-amino acid transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
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
acts_upstream_of_or_within amino acid transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within amino acid transport	IEA Inferred from Electronic Annotation more info
involved_in neutral amino acid transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neutral amino acid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in neutral amino acid transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

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
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
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 brush border membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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

Names: solute carrier family 6 member 19; system B(0) neutral amino acid transporter AT1

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.

mRNA and Protein(s)

NM_001359603.1 → NP_001346532.1 sodium-dependent neutral amino acid transporter B(0)AT1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents use of an alternate promoter and has an alternate start codon, and therefore differs in the 5' UTR compared to variant 1. These differences result in an isoform (2) with a novel N-terminus, compared to isoform 1.

Source sequence(s)

AC158359, AK162399, BP760806

UniProtKB/TrEMBL

Q3TRY2

Related

ENSMUST00000120322.8

Conserved Domains (1) summary

cl00456
Location:21 → 517

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
NM_028878.4 → NP_083154.1 sodium-dependent neutral amino acid transporter B(0)AT1 isoform 1

See identical proteins and their annotated locations for NP_083154.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC158359, AK014544, AK028784, AK162399, BP760806, BY148246

Consensus CDS

CCDS26634.1

UniProtKB/Swiss-Prot

Q9D687

UniProtKB/TrEMBL

Q3KN89

Related

ENSMUSP00000022048.6, ENSMUST00000022048.6

Conserved Domains (1) summary

cl00456
Location:32 → 612

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain