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    SLC16A11 solute carrier family 16 member 11 [ Homo sapiens (human) ]

    Gene ID: 162515, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SLC16A11provided by HGNC
    Official Full Name
    solute carrier family 16 member 11provided by HGNC
    Primary source
    HGNC:HGNC:23093
    See related
    Ensembl:ENSG00000174326 MIM:615765; AllianceGenome:HGNC:23093
    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
    MCT11; MCT 11
    Summary
    Enables pyruvate transmembrane transporter activity. Involved in lipid metabolic process. Located in endoplasmic reticulum membrane and plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in kidney (RPKM 1.1), lung (RPKM 1.1) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC16A11 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7041621..7044092, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (6942295..6944766, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (6944940..6947411, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene BCL6B transcription repressor Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:6938773-6939273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11596 Neighboring gene solute carrier family 16 member 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8082 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8083 Neighboring gene uncharacterized LOC124903909 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11599 Neighboring gene C-type lectin domain containing 10A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11600 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11601 Neighboring gene asialoglycoprotein receptor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7015987-7016487 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7018293-7019079

    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. Downregulation of SLC16A11 is Present in Offspring of Mothers with Gestational Diabetes. Sevilla-Domingo M, et al. Arch Med Res, 2022 Jul. PMID 35831226
    2. Genetic variants in the SLC16A11 gene are associated with increased BMI and insulin levels in nondiabetic Chilean population. Mardones L, et al. Arch Endocrinol Metab, 2021 Nov 3. PMID 33909378, Free PMC Article
    3. The association between SLC16A11 haplotype and lipid metabolism in Japanese patients with type 2 diabetes. Kimura Y, et al. Drug Metab Pharmacokinet, 2021 Apr. PMID 33561739
    4. Associations between SLC16A11 variants and diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). Hidalgo BA, et al. Sci Rep, 2019 Jan 29. PMID 30696834, Free PMC Article
    5. The SLC16A11 risk haplotype is associated with decreased insulin action, higher transaminases and large-size adipocytes. Almeda-Valdes P, et al. Eur J Endocrinol, 2019 Feb 1. PMID 30475225

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Epistasis Between HLA-DRB1*16:02:01 and SLC16A11 T-C-G-T-T Reduces Odds for Type 2 Diabetes in Southwest American Indians.
      Title: Epistasis Between HLA-DRB1*16:02:01 and SLC16A11 T-C-G-T-T Reduces Odds for Type 2 Diabetes in Southwest American Indians.
    2. Downregulation of SLC16A11 is Present in Offspring of Mothers with Gestational Diabetes.
      Title: Downregulation of SLC16A11 is Present in Offspring of Mothers with Gestational Diabetes.
    3. Genetic variants in the SLC16A11 gene are associated with increased BMI and insulin levels in nondiabetic Chilean population.
      Title: Genetic variants in the SLC16A11 gene are associated with increased BMI and insulin levels in nondiabetic Chilean population.
    4. The association between SLC16A11 haplotype and lipid metabolism in Japanese patients with type 2 diabetes.
      Title: The association between SLC16A11 haplotype and lipid metabolism in Japanese patients with type 2 diabetes.
    5. Mouse model carrying the reconstituted T2D risk haplotype of human SLC16A11 displays elevated blood and liver triglycerides, glucose intolerance, insulin resistance, and increased levels of lipin 1 protein in the liver in response to a high-fat diet. Human LPIN1 levels are increased in HepG2 cells overexpressing the mutant SLC16A11.
      Title: Gain-of-Function Mutations of SLC16A11 Contribute to the Pathogenesis of Type 2 Diabetes.
    6. The T2D risk haplotype in the SLC16A11 region includes a cis-eQTL that decreases SLC16A11 expression in a dose-dependent manner in liver tissue.
      Title: Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms.
    7. Mouse model carrying the reconstituted T2D risk haplotype of SLC16A11 displays elevated blood and liver triglycerides, glucose intolerance, insulin resistance, and increased levels of lipin 1 protein in the liver in response to a high-fat diet. Human LPIN1 levels are increased in HepG2 cells overexpressing the mutant SLC16A11.
      Title: Gain-of-Function Mutations of SLC16A11 Contribute to the Pathogenesis of Type 2 Diabetes.
    8. The previously reported effects of SLC16A11 variants shown to be associated with diabetes in Mexicans was replicated in a large Mexican-American sample, but these effects were not significant in five non-Mexican Hispanic/Latino groups sampled from U.S. populations.
      Title: Associations between SLC16A11 variants and diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL).
    9. Individuals carrying the SLC16A11 risk haplotype exhibited decreased insulin action. Higher serum ALT and GGT levels were found in carriers with type 2 diabetes, and larger adipocytes in subcutaneous fat in the size distribution in carrier women with normal weight.
      Title: The SLC16A11 risk haplotype is associated with decreased insulin action, higher transaminases and large-size adipocytes.
    10. rs13342232 might be involved in the risk of pediatric-onset type 2 diabetes in Mexican families
      Title: Associations of common variants in the SLC16A11, TCF7L2, and ABCA1 genes with pediatric-onset type 2 diabetes and related glycemic traits in families: A case-control and case-parent trio study.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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
    Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ90193

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables monocarboxylic acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables pyruvate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables symporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in carboxylic acid transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lipid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pyruvate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    monocarboxylate transporter 11
    Names
    monocarboxylic acid transporter 11
    solute carrier family 16 (monocarboxylic acid transporters), member 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_001370549.1 → NP_001357478.1  monocarboxylate transporter 11 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC040977
      Consensus CDS
      CCDS11086.2
      UniProtKB/Swiss-Prot
      Q8NCK7
      UniProtKB/TrEMBL
      A0A590UJX4, I3L431
      Related
      ENSP00000460927.2, ENST00000574600.3
      Conserved Domains (1) summary
      cl28910
      Location:14 → 403
      MFS; Major Facilitator Superfamily

    2. NM_001370553.1 → NP_001357482.1  monocarboxylate transporter 11 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC040977
      Consensus CDS
      CCDS92241.1
      UniProtKB/TrEMBL
      A0A669KBK5
      Related
      ENSP00000501313.1, ENST00000673828.2
      Conserved Domains (1) summary
      cl28910
      Location:14 → 372
      MFS; Major Facilitator Superfamily

    3. NM_153357.3 → NP_699188.2  monocarboxylate transporter 11 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC040977
      Consensus CDS
      CCDS11086.2
      UniProtKB/Swiss-Prot
      Q8NCK7
      UniProtKB/TrEMBL
      A0A590UJX4, I3L431
      Related
      ENSP00000499634.1, ENST00000662352.3
      Conserved Domains (1) summary
      cl28910
      Location:14 → 403
      MFS; Major Facilitator Superfamily

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      7041621..7044092 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      6942295..6944766 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NCK7.1 GenPept UniProtKB/Swiss-Prot:Q8NCK7

    Gene LinkOut

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

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