Slc7a9 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc7a9provided by MGI
Official Full Name: solute carrier family 7 (cationic amino acid transporter, y+ system), member 9provided by MGI
Primary source: MGI:MGI:1353656
See related: Ensembl:ENSMUSG00000030492 AllianceGenome:MGI:1353656
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: CSNU3
Summary: Predicted to enable amino acid transmembrane transporter activity; peptide antigen binding activity; and protein heterodimerization activity. Predicted to be involved in L-cystine transport and amino acid transmembrane transport. Located in brush border membrane. Is expressed in several structures, including metanephros and midgut. Used to study cystinuria. Human ortholog(s) of this gene implicated in cystinuria. Orthologous to human SLC7A9 (solute carrier family 7 member 9). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in large intestine adult (RPKM 139.5), kidney adult (RPKM 97.6) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B2; 7 21.37 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (35148152..35165459)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (35448727..35466034)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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 new protocol with d-penicillamine to validate our Slc7a9 knockout mouse model for the study of the therapeutic effect of drugs in the treatment of cystine lithiasis is reported.
Title: Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies.
mouse amino acid transport system B0 is a neutral amino acid transporter related to Hartnup disorder
Title: Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder.
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.
Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis
Title: Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.

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Variation

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Alleles

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

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

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables L-cystine transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-cystine transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables L-cystine transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables amino acid transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables antiporter activity	ISO Inferred from Sequence Orthology more info
enables broad specificity neutral L-amino acid:basic L-amino acid antiporter activity	ISO Inferred from Sequence Orthology more info
enables broad specificity neutral L-amino acid:basic L-amino acid antiporter activity	ISS Inferred from Sequence or Structural Similarity 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	ISO Inferred from Sequence Orthology more info
enables neutral L-amino acid transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables peptide antigen binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in L-cystine transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-cystine transport	ISO Inferred from Sequence Orthology more info
involved_in L-cystine transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in amino acid transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in amino acid transport	ISO Inferred from Sequence Orthology more info
involved_in basic amino acid transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in neutral amino acid transport	ISO Inferred from Sequence Orthology more info
involved_in neutral amino acid transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity 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 plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: B(0,+)-type amino acid transporter 1

Names: b(0,+)AT; b<o>, + amino acid transporter; b<o>, +AT; glycoprotein-associated amino acid transporter b0,+AT1; solute carrier family 7 member 9

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_001199015.1 → NP_001185944.1 B(0,+)-type amino acid transporter 1

See identical proteins and their annotated locations for NP_001185944.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-3 encode the same protein.

Source sequence(s)

AF192310, BE136295

Consensus CDS

CCDS21150.1

UniProtKB/Swiss-Prot

Q9QXA6

UniProtKB/TrEMBL

Q3UQE3

Conserved Domains (1) summary

TIGR00911
Location:26 → 484

2A0308; L-type amino acid transporter
NM_001199016.1 → NP_001185945.1 B(0,+)-type amino acid transporter 1

See identical proteins and their annotated locations for NP_001185945.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-3 encode the same protein.

Source sequence(s)

AK142541, BE136295

Consensus CDS

CCDS21150.1

UniProtKB/Swiss-Prot

Q9QXA6

UniProtKB/TrEMBL

Q3UQE3

Related

ENSMUSP00000112726.2, ENSMUST00000118969.8

Conserved Domains (1) summary

TIGR00911
Location:26 → 484

2A0308; L-type amino acid transporter
NM_021291.3 → NP_067266.1 B(0,+)-type amino acid transporter 1

See identical proteins and their annotated locations for NP_067266.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1-3 encode the same protein.

Source sequence(s)

AA104782, AC151535, AK142541, BE136295

Consensus CDS

CCDS21150.1

UniProtKB/Swiss-Prot

Q9QXA6

UniProtKB/TrEMBL

Q3UQE3

Related

ENSMUSP00000032703.10, ENSMUST00000032703.10

Conserved Domains (1) summary

TIGR00911
Location:26 → 484

2A0308; L-type amino acid transporter

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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

35148152..35165459

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006540045.3 → XP_006540108.1 B(0,+)-type amino acid transporter 1 isoform X1

See identical proteins and their annotated locations for XP_006540108.1

UniProtKB/Swiss-Prot

Q9QXA6

UniProtKB/TrEMBL

Q3UQE3

Related

ENSMUSP00000113181.2, ENSMUST00000118383.8

Conserved Domains (1) summary

TIGR00911
Location:26 → 484

2A0308; L-type amino acid transporter
XM_011250591.2 → XP_011248893.1 B(0,+)-type amino acid transporter 1 isoform X1

See identical proteins and their annotated locations for XP_011248893.1

UniProtKB/Swiss-Prot

Q9QXA6

UniProtKB/TrEMBL

Q3UQE3

Conserved Domains (1) summary

TIGR00911
Location:26 → 484

2A0308; L-type amino acid transporter
XM_006540044.2 → XP_006540107.1 B(0,+)-type amino acid transporter 1 isoform X1

See identical proteins and their annotated locations for XP_006540107.1

UniProtKB/Swiss-Prot

Q9QXA6

UniProtKB/TrEMBL

Q3UQE3

Conserved Domains (1) summary

TIGR00911
Location:26 → 484

2A0308; L-type amino acid transporter
XM_006540047.2 → XP_006540110.1 B(0,+)-type amino acid transporter 1 isoform X3

Conserved Domains (1) summary

TIGR00911
Location:26 → 326

2A0308; L-type amino acid transporter
XM_011250592.3 → XP_011248894.1 B(0,+)-type amino acid transporter 1 isoform X1

See identical proteins and their annotated locations for XP_011248894.1

UniProtKB/Swiss-Prot

Q9QXA6

UniProtKB/TrEMBL

Q3UQE3

Conserved Domains (1) summary

TIGR00911
Location:26 → 484

2A0308; L-type amino acid transporter
XM_006540046.1 → XP_006540109.1 B(0,+)-type amino acid transporter 1 isoform X2

Conserved Domains (1) summary

TIGR00911
Location:2 → 396

2A0308; L-type amino acid transporter