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

Gene ID: 74338, updated on 2-Nov-2024

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 L-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 blastocyst; cumulus oophorus; early embryo; and metanephros. Used to study Hartnup disease. Human ortholog(s) of this gene implicated in Hartnup disease. Orthologous to human SLC6A19 (solute carrier family 6 member 19). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in kidney adult (RPKM 169.0), large intestine adult (RPKM 126.9) and 2 other tissues See more
Orthologs
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Genomic context

See Slc6a19 in Genome Data Viewer
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_000079.7Genomic Context describing neighboring genes Neighboring gene Tert 5' regulatory region Neighboring gene STARR-seq mESC enhancer starr_34994 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:73778847-73779048 Neighboring gene telomerase reverse transcriptase Neighboring gene STARR-seq mESC enhancer starr_34995 Neighboring gene STARR-seq mESC enhancer starr_34996 Neighboring gene solute carrier family 6 (neurotransmitter transporter), member 18 Neighboring gene solute carrier family 6 (neurotransmitter transporter), member 19, opposite strand Neighboring gene solute carrier family 12, member 7 Neighboring gene STARR-seq mESC enhancer starr_34997 Neighboring gene STARR-seq mESC enhancer starr_35002 Neighboring gene naked cuticle 2 Neighboring gene predicted pseudogene 8062

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (3) 
  • Spontaneous (2) 
  • Targeted (3)  1 citation

Pathways from PubChem

General gene information

Markers

Clone Names

  • MGC130422, MGC130423, 4632401C08Rik

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
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 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 transmembrane transport IEA
Inferred from Electronic Annotation
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
 
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

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)

  1. NM_001359603.1NP_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:21517
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  2. NM_028878.4NP_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:32612
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    73827864..73848899 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)