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    SLC16A8 solute carrier family 16 member 8 [ Homo sapiens (human) ]

    Gene ID: 23539, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SLC16A8provided by HGNC
    Official Full Name
    solute carrier family 16 member 8provided by HGNC
    Primary source
    HGNC:HGNC:16270
    See related
    Ensembl:ENSG00000100156 MIM:610409; AllianceGenome:HGNC:16270
    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
    MCT3; REMP
    Summary
    SLC16A8 is a member of a family of proton-coupled monocarboxylate transporters that mediate lactate transport across cell membranes (Yoon et al., 1999 [PubMed 10493836]).[supplied by OMIM, Apr 2010]
    Expression
    Broad expression in prostate (RPKM 2.1), testis (RPKM 0.9) and 20 other tissues See more
    Orthologs
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    Genomic context

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    See SLC16A8 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (38078137..38084184, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (38539760..38545772, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38474144..38480191, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene RNA polymerase II, I and III subunit F Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38392633-38393194 Neighboring gene VISTA enhancer hs486 Neighboring gene microRNA 4534 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:38424434-38424934 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:38427029-38428228 Neighboring gene VISTA enhancer hs491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38438297-38438796 Neighboring gene VISTA enhancer hs492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38446442-38446942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38446943-38447443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18990 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:38452863-38453488 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:38453489-38454112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38470967-38471468 Neighboring gene uncharacterized LOC105373027 Neighboring gene protein interacting with PRKCA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38476553-38477334 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38479675-38480456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38482017-38482796 Neighboring gene BAR/IMD domain containing adaptor protein 2 like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38494339-38494893 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38510521-38511423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38518609-38519118 Neighboring gene phospholipase A2 group VI Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38538756-38539256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38559728-38560228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38560229-38560729 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38561911 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38570189 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38572440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18996 Neighboring gene Sharpr-MPRA regulatory region 6169

    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. A Splice Variant in SLC16A8 Gene Leads to Lactate Transport Deficit in Human iPS Cell-Derived Retinal Pigment Epithelial Cells. Klipfel L, et al. Cells, 2021 Jan 18. PMID 33477551, Free PMC Article
    2. Cloning of the human monocarboxylate transporter MCT3 gene: localization to chromosome 22q12.3-q13.2. Yoon H, et al. Genomics, 1999 Sep 15. PMID 10493836
    3. Basolateral sorting signals regulating tissue-specific polarity of heteromeric monocarboxylate transporters in epithelia. Castorino JJ, et al. Traffic, 2011 Apr. PMID 21199217, Free PMC Article
    4. Serum Levels of TIMP-3, LIPC, IER3, and SLC16A8 in CFH-Negative AMD Cases. Sharma K, et al. J Cell Biochem, 2017 Aug. PMID 27966779
    5. Polarized expression of monocarboxylate transporters in human retinal pigment epithelium and ARPE-19 cells. Philp NJ, et al. Invest Ophthalmol Vis Sci, 2003 Apr. PMID 12657613

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A Splice Variant in SLC16A8 Gene Leads to Lactate Transport Deficit in Human iPS Cell-Derived Retinal Pigment Epithelial Cells.
      Title: A Splice Variant in SLC16A8 Gene Leads to Lactate Transport Deficit in Human iPS Cell-Derived Retinal Pigment Epithelial Cells.
    2. The expression level of LIPC, SLC16A8, and TIMP-3 was significantly associated with age-related macular degeneration pathology.
      Title: Serum Levels of TIMP-3, LIPC, IER3, and SLC16A8 in CFH-Negative AMD Cases.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
    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
    Seven new loci associated with age-related macular degeneration.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lactate transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables monocarboxylic acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables symporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in lactate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lactate transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in basolateral plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in basolateral plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    monocarboxylate transporter 3
    Names
    MCT 3
    solute carrier 16 (monocarboxylic acid transporters), member 8
    solute carrier family 16 (monocarboxylate transporter), member 8
    solute carrier family 16, member 8 (monocarboxylic acid transporter 3)

    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_001394131.1 → NP_001381060.1  monocarboxylate transporter 3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL031587
      Related
      ENST00000469516.5
      Conserved Domains (1) summary
      TIGR00892
      Location:1 → 34
      2A0113; monocarboxylate transporter 1

    2. NM_013356.3 → NP_037488.2  monocarboxylate transporter 3 isoform 1

      See identical proteins and their annotated locations for NP_037488.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL031587
      Consensus CDS
      CCDS13966.1
      UniProtKB/Swiss-Prot
      O95907, Q9UBE2
      Related
      ENSP00000506669.1, ENST00000681075.2
      Conserved Domains (2) summary
      cd06174
      Location:19 → 429
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      TIGR00892
      Location:1 → 460
      2A0113; monocarboxylate transporter 1

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      38078137..38084184 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028685.2 → XP_016884174.1  monocarboxylate transporter 3 isoform X1

      UniProtKB/Swiss-Prot
      O95907, Q9UBE2
      Conserved Domains (2) summary
      cd06174
      Location:19 → 429
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      TIGR00892
      Location:1 → 460
      2A0113; monocarboxylate transporter 1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      38539760..38545772 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325362.1 → XP_054181337.1  monocarboxylate transporter 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95907.1 GenPept UniProtKB/Swiss-Prot:O95907

    Gene LinkOut

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

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