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    SLC38A11 solute carrier family 38 member 11 [ Homo sapiens (human) ]

    Gene ID: 151258, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SLC38A11provided by HGNC
    Official Full Name
    solute carrier family 38 member 11provided by HGNC
    Primary source
    HGNC:HGNC:26836
    See related
    Ensembl:ENSG00000169507 MIM:616526; AllianceGenome:HGNC:26836
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AVT2
    Summary
    Predicted to enable L-amino acid transmembrane transporter activity. Predicted to be involved in amino acid transmembrane transport. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in gall bladder (RPKM 4.2), stomach (RPKM 2.0) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC38A11 in Genome Data Viewer
    Location:
    2q24.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (164894354..164955525, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (165351705..165412860, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (165750864..165812035, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cordon-bleu WH2 repeat protein like 1 Neighboring gene uncharacterized LOC101929633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12065 Neighboring gene RNA, 5S ribosomal pseudogene 110 Neighboring gene NANOG hESC enhancer GRCh37_chr2:165769454-165769970 Neighboring gene RNA, 5S ribosomal pseudogene 111 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:165840567-165840754 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:165851409-165851909 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:165926349-165926850 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:165926851-165927350 Neighboring gene sodium voltage-gated channel alpha subunit 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12066 Neighboring gene sodium voltage-gated channel alpha subunit 2 Neighboring gene MAPRE1 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Evolutionary origin of amino acid transporter families SLC32, SLC36 and SLC38 and physiological, pathological and therapeutic aspects. Schiöth HB, et al. Mol Aspects Med, 2013 Apr-Jun. PMID 23506890
    2. A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. Cai DC, et al. Genes Brain Behav, 2014 Sep. PMID 25130324
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ39822, MGC150450

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-amino acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-alpha-amino acid transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in amino acid transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    putative sodium-coupled neutral amino acid transporter 11

    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_001199148.2 → NP_001186077.1  putative sodium-coupled neutral amino acid transporter 11 isoform 1

      See identical proteins and their annotated locations for NP_001186077.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1), as well as variant 4, encodes isoform 1.
      Source sequence(s)
      AC019197
      Consensus CDS
      CCDS56142.1
      UniProtKB/Swiss-Prot
      B4DF99, Q08AI6, Q8N887
      UniProtKB/TrEMBL
      B8ZZ86
      Related
      ENSP00000386272.3, ENST00000409149.7
      Conserved Domains (1) summary
      cl00456
      Location:1 → 362
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    2. NM_001351537.2 → NP_001338466.1  putative sodium-coupled neutral amino acid transporter 11 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AC019197
      Consensus CDS
      CCDS92885.1
      UniProtKB/TrEMBL
      A0A8I5QKK7, B8ZZ86
      Related
      ENSP00000508649.1, ENST00000685975.1
      Conserved Domains (1) summary
      cl00456
      Location:37 → 418
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    3. NM_001351538.2 → NP_001338467.1  putative sodium-coupled neutral amino acid transporter 11 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variant 1, encodes isoform 1.
      Source sequence(s)
      AC019197
      Consensus CDS
      CCDS56142.1
      UniProtKB/Swiss-Prot
      B4DF99, Q08AI6, Q8N887
      UniProtKB/TrEMBL
      B8ZZ86
      Related
      ENSP00000386774.1, ENST00000409662.5
      Conserved Domains (1) summary
      cl00456
      Location:1 → 362
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    4. NM_001351539.2 → NP_001338468.1  putative sodium-coupled neutral amino acid transporter 11 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC019197
      Conserved Domains (1) summary
      cl00456
      Location:1 → 296
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    5. NM_001351540.2 → NP_001338469.1  putative sodium-coupled neutral amino acid transporter 11 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC019197
      Conserved Domains (1) summary
      cl00456
      Location:24 → 223
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    6. NM_173512.3 → NP_775783.1  putative sodium-coupled neutral amino acid transporter 11 isoform 2

      See identical proteins and their annotated locations for NP_775783.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AC019197
      Consensus CDS
      CCDS2224.1
      UniProtKB/TrEMBL
      B8ZZ86
      Related
      ENSP00000306178.4, ENST00000303735.8
      Conserved Domains (1) summary
      cl00456
      Location:1 → 340
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      164894354..164955525 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      165351705..165412860 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001394061.1: Suppressed sequence

      Description
      NM_001394061.1: This RefSeq was removed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q08AI6.1 GenPept UniProtKB/Swiss-Prot:Q08AI6

    Gene LinkOut

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

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