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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 27-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
    • 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

      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

      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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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