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    SLC7A10 solute carrier family 7 member 10 [ Homo sapiens (human) ]

    Gene ID: 56301, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SLC7A10provided by HGNC
    Official Full Name
    solute carrier family 7 member 10provided by HGNC
    Primary source
    HGNC:HGNC:11058
    See related
    Ensembl:ENSG00000130876 MIM:607959; AllianceGenome:HGNC:11058
    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
    ASC1; asc-1; HASC-1
    Summary
    SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in fat (RPKM 24.7), ovary (RPKM 10.1) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC7A10 in Genome Data Viewer
    Location:
    19q13.11
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (33208664..33225850, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (35727305..35744598, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (33699570..33716756, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene WD repeat domain 88 Neighboring gene uncharacterized LOC124904691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14440 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33666856-33667620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14443 Neighboring gene tRNA-Thr (anticodon AGT) 1-3 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14444 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51179 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51187 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33698023-33698524 Neighboring gene LDL receptor related protein 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:33723689-33723856 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14445 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33739547-33740048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33741253-33742136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33742137-33743019 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33764565-33765125 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33765149-33765716 Neighboring gene HNF1 motif-containing MPRA enhancer 13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33769447-33770004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33777434-33778421 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33782467-33783050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33784308-33785258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10495 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10496 Neighboring gene CEBPA divergent transcript Neighboring gene CCAAT enhancer binding protein alpha

    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 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. Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay. Drehmann P, et al. eNeuro, 2023 Nov. PMID 37903619, Free PMC Article
    2. Is the SLC7A10 gene on chromosome 19 a candidate locus for cystinuria? Leclerc D, et al. Mol Genet Metab, 2001 Aug. PMID 11509015
    3. ASC-1 transporter-dependent amino acid uptake is required for the efficient thermogenic response of human adipocytes to adrenergic stimulation. Arianti R, et al. FEBS Lett, 2021 Aug. PMID 34197627
    4. No genetic association between SLC7A10 and Japanese patients with schizophrenia. Takebayashi Y, et al. Prog Neuropsychopharmacol Biol Psychiatry, 2011 Dec 1. PMID 21888942
    5. Asc-1 Transporter (SLC7A10): Homology Models And Molecular Dynamics Insights Into The First Steps Of The Transport Mechanism. Mikou A, et al. Sci Rep, 2020 Feb 28. PMID 32111919, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay.
      Title: Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay.
    2. Impaired Adipocyte SLC7A10 Promotes Lipid Storage in Association With Insulin Resistance and Altered BCAA Metabolism.
      Title: Impaired Adipocyte SLC7A10 Promotes Lipid Storage in Association With Insulin Resistance and Altered BCAA Metabolism.
    3. ASC-1 transporter-dependent amino acid uptake is required for the efficient thermogenic response of human adipocytes to adrenergic stimulation.
      Title: ASC-1 transporter-dependent amino acid uptake is required for the efficient thermogenic response of human adipocytes to adrenergic stimulation.
    4. NLRC4, ASC and Caspase-1 Are Inflammasome Components that Are Mediated by P2Y2R Activation in Breast Cancer Cells.
      Title: NLRC4, ASC and Caspase-1 Are Inflammasome Components that Are Mediated by P2Y(2)R Activation in Breast Cancer Cells.
    5. Asc-1 Transporter (SLC7A10): Homology Models And Molecular Dynamics Insights Into The First Steps Of The Transport Mechanism.
      Title: Asc-1 Transporter (SLC7A10): Homology Models And Molecular Dynamics Insights Into The First Steps Of The Transport Mechanism.
    6. results identify ASC-1 as a novel cell cycle regulator with a key role in cell proliferation.
      Title: ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
    7. The amino acid transporter ASC-1 is a white adipocyte-specific cell surface protein.
      Title: ASC-1, PAT2, and P2RX5 are cell surface markers for white, beige, and brown adipocytes.
    8. ASC1 is a target for ufmylation and that UFBP1 is an essential component for ASC1 ufmylation.
      Title: Modification of ASC1 by UFM1 is crucial for ERα transactivation and breast cancer development.
    9. In conclusion, SLC7A10 had no apparent degree of association with schizophrenia as a candidate susceptibility gene in the disease per se.
      Title: No genetic association between SLC7A10 and Japanese patients with schizophrenia.
    10. The lack of expression of asc-1 in the proximal tubule indicates that it plays no role in the bulk of renal reabsorption of amino acids
      Title: The amino acid transporter asc-1 is not involved in cystinuria.
    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
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20839

    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 L-serine transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in D-alanine transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in D-serine transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in L-alpha-amino acid transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in L-serine transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in amino acid transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in glycine transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of brown fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neutral amino acid transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of synaptic transmission, glycinergic IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    asc-type amino acid transporter 1
    Names
    solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10
    solute carrier family 7, (cationic amino acid transporter, y+ system) member 10
    solute carrier family 7, (neutral amino acid transporter, y+ system) member 10

    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_019849.3 → NP_062823.1  asc-type amino acid transporter 1

      See identical proteins and their annotated locations for NP_062823.1

      Status: VALIDATED

      Source sequence(s)
      AB037670, BC022457
      Consensus CDS
      CCDS12431.1
      UniProtKB/Swiss-Prot
      B2RE84, Q9NS82
      Related
      ENSP00000253188.2, ENST00000253188.8
      Conserved Domains (1) summary
      cl26159
      Location:15 → 498
      AA_permease_2; Amino acid permease

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      33208664..33225850 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451610.2 → XP_024307378.1  asc-type amino acid transporter 1 isoform X3

      Conserved Domains (2) summary
      cl26159
      Location:97 → 471
      AA_permease_2; Amino acid permease
      cl26386
      Location:2 → 84
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    2. XM_011527120.2 → XP_011525422.1  asc-type amino acid transporter 1 isoform X2

      Conserved Domains (1) summary
      TIGR00911
      Location:97 → 608
      2A0308; L-type amino acid transporter

    3. XM_006723284.3 → XP_006723347.1  asc-type amino acid transporter 1 isoform X4

      Conserved Domains (1) summary
      TIGR00911
      Location:15 → 419
      2A0308; L-type amino acid transporter

    4. XM_011527119.2 → XP_011525421.1  asc-type amino acid transporter 1 isoform X1

      Conserved Domains (1) summary
      TIGR00911
      Location:15 → 635
      2A0308; L-type amino acid transporter

    5. XM_047439101.1 → XP_047295057.1  asc-type amino acid transporter 1 isoform X5

      UniProtKB/TrEMBL
      K7EK24
      Related
      ENSP00000465421.1, ENST00000590036.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      35727305..35744598 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321472.1 → XP_054177447.1  asc-type amino acid transporter 1 isoform X3

    2. XM_054321471.1 → XP_054177446.1  asc-type amino acid transporter 1 isoform X2

    3. XM_054321473.1 → XP_054177448.1  asc-type amino acid transporter 1 isoform X4

    4. XM_054321470.1 → XP_054177445.1  asc-type amino acid transporter 1 isoform X1

    5. XM_054321474.1 → XP_054177449.1  asc-type amino acid transporter 1 isoform X5

      UniProtKB/TrEMBL
      K7EK24
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NS82.1 GenPept UniProtKB/Swiss-Prot:Q9NS82

    Gene LinkOut

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

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