Slc3a1 solute carrier family 3, member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc3a1provided by MGI
Official Full Name: solute carrier family 3, member 1provided by MGI
Primary source: MGI:MGI:1195264
See related: Ensembl:ENSMUSG00000024131 AllianceGenome:MGI:1195264
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: D2; D2H; NBAT; NTAA; RBAT
Summary: Enables protein heterodimerization activity. Involved in amino acid transport and gene expression. Located in apical plasma membrane and brush border membrane. Is expressed in several structures, including brain; genitourinary system; integumental system; intestine; and respiratory system. Used to study cystinuria. Human ortholog(s) of this gene implicated in cystinuria. Orthologous to human SLC3A1 (solute carrier family 3 member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in kidney adult (RPKM 126.1), large intestine adult (RPKM 44.6) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 E4; 17 55.17 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (85335775..85371669)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (85028347..85064241)

Chromosome 17 - NC_000083.7 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?

CRISPR/Cas9 engineering of albino cystinuria Type A mice.
Title: CRISPR/Cas9 engineering of albino cystinuria Type A mice.
Tissue distribution, hormonal regulation, ontogeny, diurnal expression, and induction of mouse cystine transporters Slc3a1 and Slc7a9.
Title: Tissue distribution, hormonal regulation, ontogeny, diurnal expression, and induction of mouse cystine transporters Slc3a1 and Slc7a9.
a membrane protein AGT1/SLC7A13 is the second partner of rBAT.
Title: Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1.
In 129S2/SvPasCrl mice, the heavy subunit RBAT of the tetrameric transporter of dibasic amino acids was absent in proximal tubules and identified was a single pathogenic mutation in a highly conserved region of the Slc3a1 gene.
Title: An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice.
This study demonistrated that slc3a1 gene expression in mouse dorsal raphe nucleus
Title: Patterned expression of ion channel genes in mouse dorsal raphe nucleus determined with the Allen Mouse Brain Atlas.
Slc3A1-deficient mice develop cystinuria type I
Title: A mouse model for cystinuria type I.
a decreasing expression gradient of heterodimeric rBAT-b(0,+)AT along the proximal tubule is responsible for virtually all apical cystine reabsorption
Title: rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Targeted (3) 1 citation
Spontaneous (1) 1 citation
Endonuclease-mediated (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:237720

D2S2946 (e-PCR)
- UniSTS:474531

D88533 (e-PCR)
- UniSTS:160702

Slc3a1 (e-PCR), detects polymorphism
- UniSTS:546010

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in L-cystine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in L-glutamate transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in amino acid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in amino acid transport	ISO Inferred from Sequence Orthology more info
involved_in aspartate transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in apical plasma membrane	IPI Inferred from Physical Interaction more info	PubMed
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
located_in mitochondrial inner membrane	HDA more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in vacuolar membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: amino acid transporter heavy chain SLC3A1

Names: b(0,+)-type amino acid transport protein; b(0,+)-type amino acid transporter-related heavy chain; neutral and basic amino acid transport protein rBAT

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_009205.2 → NP_033231.2 amino acid transporter heavy chain SLC3A1

See identical proteins and their annotated locations for NP_033231.2

Status: VALIDATED

Source sequence(s)

AI326967, AK132275, CA493293

Consensus CDS

CCDS37711.1

UniProtKB/Swiss-Prot

Q91WV7

UniProtKB/TrEMBL

O55093

Related

ENSMUSP00000024944.8, ENSMUST00000024944.9

Conserved Domains (3) summary

cd11359
Location:115 → 568

AmyAc_SLC3A1; Alpha amylase catalytic domain found in Solute Carrier family 3 member 1 proteins

TIGR02403
Location:116 → 604

trehalose_treC; alpha,alpha-phosphotrehalase

pfam16028
Location:64 → 122

SLC3A2_N; Solute carrier family 3 member 2 N-terminus