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Slc7a14 solute carrier family 7 (cationic amino acid transporter, y+ system), member 14 [ Mus musculus (house mouse) ]

Gene ID: 241919, updated on 2-Nov-2024

Summary

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Official Symbol
Slc7a14provided by MGI
Official Full Name
solute carrier family 7 (cationic amino acid transporter, y+ system), member 14provided by MGI
Primary source
MGI:MGI:3040688
See related
Ensembl:ENSMUSG00000069072 AllianceGenome:MGI:3040688
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
A930013N06
Summary
Enables gamma-aminobutyric acid transmembrane transporter activity. Involved in gamma-aminobutyric acid import. Located in lysosomal membrane. Is expressed in several structures, including central nervous system; genitourinary system; gut gland; hemolymphoid system; and sensory organ. Used to study blindness and sensorineural hearing loss. Human ortholog(s) of this gene implicated in retinitis pigmentosa 68. Orthologous to human SLC7A14 (solute carrier family 7 member 14). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in cerebellum adult (RPKM 7.7), cortex adult (RPKM 5.2) and 5 other tissues See more
Orthologs
human all
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Genomic context

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See Slc7a14 in Genome Data Viewer
Location:
3 A3; 3 15.17 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (31257003..31364712, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (31202854..31310567, complement)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_07316 Neighboring gene STARR-positive B cell enhancer ABC_E9545 Neighboring gene SKI-like Neighboring gene claudin 11 Neighboring gene STARR-seq mESC enhancer starr_07318 Neighboring gene STARR-seq mESC enhancer starr_07319 Neighboring gene predicted gene 15496 Neighboring gene STARR-seq mESC enhancer starr_07320 Neighboring gene STARR-seq mESC enhancer starr_07321 Neighboring gene STARR-seq mESC enhancer starr_07322 Neighboring gene STARR-seq mESC enhancer starr_07323 Neighboring gene STARR-seq mESC enhancer starr_07324 Neighboring gene STARR-seq mESC enhancer starr_07325 Neighboring gene STARR-seq mESC enhancer starr_07326 Neighboring gene STARR-seq mESC enhancer starr_07327 Neighboring gene predicted gene, 54171 Neighboring gene predicted gene 6558 Neighboring gene predicted gene, 33886

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. SLC7A14 imports GABA to lysosomes and impairs hepatic insulin sensitivity via inhibiting mTORC2. Jiang X, et al. Cell Rep, 2023 Jan 31. PMID 36640347
  2. Hypothalamic SLC7A14 accounts for aging-reduced lipolysis in white adipose tissue of male mice. Jiang X, et al. Nat Commun, 2024 Sep 11. PMID 39261456, Free PMC Article
  3. SLC7A14 linked to autosomal recessive retinitis pigmentosa. Jin ZB, et al. Nat Commun, 2014 Mar 27. PMID 24670872, Free PMC Article
  4. Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction. Giffen KP, et al. Sci Adv, 2022 Apr 8. PMID 35394837, Free PMC Article
  5. Epistatic genetic interactions between Insm1 and Ikzf2 during cochlear outer hair cell development. Li S, et al. Cell Rep, 2023 May 30. PMID 37171961

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Hypothalamic SLC7A14 accounts for aging-reduced lipolysis in white adipose tissue of male mice.
    Title: Hypothalamic SLC7A14 accounts for aging-reduced lipolysis in white adipose tissue of male mice.
  2. SLC7A14 imports GABA to lysosomes and impairs hepatic insulin sensitivity via inhibiting mTORC2.
    Title: SLC7A14 imports GABA to lysosomes and impairs hepatic insulin sensitivity via inhibiting mTORC2.
  3. Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction.
    Title: Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction.
Submit: New GeneRIF Correction

Variation

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Alleles

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

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables amino acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables gamma-aminobutyric acid transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in amino acid transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in amino acid transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in carboxylic acid transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in gamma-aminobutyric acid import IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
  
located_in lysosomal membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm 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 IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
solute carrier family 7 member 14
Names
gamma-aminobutyric acid transporter SLC7A14
probable cationic amino acid transporter
solute carrier family 7, member 14

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_172861.3 → NP_766449.1  solute carrier family 7 member 14

    See identical proteins and their annotated locations for NP_766449.1

    Status: VALIDATED

    Source sequence(s)
    AK173217, BB595140, BP753825
    Consensus CDS
    CCDS17291.1
    UniProtKB/Swiss-Prot
    Q69ZE9, Q8BXR1
    UniProtKB/TrEMBL
    D3YY38
    Related
    ENSMUSP00000088803.3, ENSMUST00000091259.9
    Conserved Domains (1) summary
    TIGR00906
    Location:43 → 677
    2A0303; cationic amino acid transport permease

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_000069.7 Reference GRCm39 C57BL/6J

    Range
    31257003..31364712 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006535472.5 → XP_006535535.1  solute carrier family 7 member 14 isoform X1

    See identical proteins and their annotated locations for XP_006535535.1

    UniProtKB/Swiss-Prot
    Q69ZE9, Q8BXR1
    UniProtKB/TrEMBL
    D3YY38
    Related
    ENSMUSP00000103880.2, ENSMUST00000108245.2
    Conserved Domains (1) summary
    TIGR00906
    Location:43 → 677
    2A0303; cationic amino acid transport permease

  2. XM_030252613.1 → XP_030108473.1  solute carrier family 7 member 14 isoform X1

    UniProtKB/Swiss-Prot
    Q69ZE9, Q8BXR1
    UniProtKB/TrEMBL
    D3YY38
    Conserved Domains (1) summary
    TIGR00906
    Location:43 → 677
    2A0303; cationic amino acid transport permease
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BXR1.1 GenPept UniProtKB/Swiss-Prot:Q8BXR1

Gene LinkOut

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