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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC16A1 Gene

protein-coding   GIFtS: 64
GCID: GC01M113454

solute carrier family 16, member 1 (monocarboxylic acid...

(Previous names: solute carrier family 16 (monocarboxylic acid transporters),...)
 Explore 37 diseases affiliated with
SLC16A1 via our new
 Human Malady Compendium 
Biological research products
for SLC16A1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Solute Carrier Family 16, Member 1 (Monocarboxylic Acid Transporter 1)1 2     Solute Carrier Family 16 Member 12 3
MCT11 2 3 5     MCT 12 3
MCT1 2     HHF72 5
Solute Carrier Family 16 (Monocarboxylic Acid Transporters), Member 11 2     Monocarboxylate Transporter 12

External Ids:    HGNC: 109221   Entrez Gene: 65662   Ensembl: ENSG000001553807   OMIM: 6006825   UniProtKB: P539853   

Export aliases for SLC16A1 gene to outside databases

Previous GC identifers: GC01M113870 GC01M112339 GC01M112557 GC01M112753 GC01M113166 GC01M113255 GC01M111313


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC16A1:
The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many
monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with
erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this
gene.(provided by RefSeq, Oct 2009)

UniProtKB/Swiss-Prot: MOT1_HUMAN, P53985
Function: Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many
monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and
the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate

Gene Wiki entry for SLC16A1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC16A1 gene promoter:
         MAZR   SREBP-1c   AP-4   SREBP-1b   Egr-4   SREBP-1a   FOXJ2 (long isoform)   Cart-1   FOXJ2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC16A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC16A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC16A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p12   Ensembl cytogenetic band:  1p13.2   HGNC cytogenetic band: 1p12

SLC16A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC16A1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M113454:  view genomic region     (about GC identifiers)

Start:
113,454,469 bp from pter      End:
113,499,635 bp from pter
Size:
45,167 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MOT1_HUMAN, P53985 (See protein sequence)
Recommended Name: Monocarboxylate transporter 1  
Size: 500 amino acids; 53944 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
Secondary accessions: Q5T8R6 Q9NSJ9

Explore the universe of human proteins at neXtProt for SLC16A1: NX_P53985

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P53985

  • SLC16A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001159968.1  NP_003042.3  

    ENSEMBL proteins: 
     ENSP00000358640   ENSP00000416167   ENSP00000399104   ENSP00000397106   ENSP00000441065  
     ENSP00000445061  
    Reactome Protein details: P53985
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    Novus Biologicals SLC16A1 Protein
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    Uscn Proteins for SLC16A1

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005739mitochondrion IEA--
    GO:0005886plasma membrane TAS--
    GO:0016020membrane TAS8124722
    GO:0016021integral to membrane IEA--


    SLC16A1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SLC16A1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR020846 MFS_dom
     IPR004743 Monocarb_transpt
     IPR011701 MFS
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry P53985

    ProtoNet protein and cluster: P53985

    UniProtKB/Swiss-Prot: MOT1_HUMAN, P53985
    Similarity: Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: MOT1_HUMAN, P53985
    Function: Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many
    monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and
    the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate

         Genatlas biochemistry entry for SLC16A1:
    solute carrier family 16,member A1,monocarboxylic acids transporter,mediating movement of lactate and pyruvate across
    membranes

    miRNA
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    hsa-mir-124 (MIRT002665), hsa-mir-376a (MIRT001745)

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    8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC16A1 (see all 20):
    hsa-miR-3910 hsa-miR-29c hsa-miR-29a hsa-miR-4275 hsa-miR-3692 hsa-miR-548a-3p hsa-miR-124 hsa-miR-506
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    Inhib. RNA
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008028monocarboxylic acid transmembrane transporter activity TAS8124722
    GO:0015130mevalonate transmembrane transporter activity TAS1429658
    GO:0015293symporter activity IEA--
    GO:0015355secondary active monocarboxylate transmembrane transporter activity IEA--


    SLC16A1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SLC16A1:
     Large nuclei 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport1.00
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.50
    2Bile salt and organic anion SLC transporters
    Bile salt and organic anion SLC transporters1.00
    Proton-coupled monocarboxylate transport0.33
    3Pyruvate metabolism
    Pyruvate metabolism1.00
    4Basigin interactions
    Basigin interactions1.00
    5Cell surface interactions at the vascular wall
    Cell surface interactions at the vascular wall1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/12        Reactome Pathways for SLC16A1 (see all 12)
        Hemostasis
    Pyruvate metabolism
    Bile salt and organic anion SLC transporters
    Metabolism
    The citric acid (TCA) cycle and respiratory electron transport



    SLC16A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC16A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/23 Interacting proteins for SLC16A1 (P539851, 3 ENSP000003586404) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AP1S1P619661, 3, ENSP000003366664EBI-1054708,EBI-516199 I2D: score=2 STRING: ENSP00000336666
    SERINC3Q135301, 3, ENSP000002551754EBI-1054708,EBI-1045571 I2D: score=2 STRING: ENSP00000255175
    DEGS1O151211, 3, ENSP000003164764EBI-1054708,EBI-1052713 I2D: score=2 STRING: ENSP00000316476
    BSGP356133, ENSP000003337694I2D: score=3 STRING: ENSP00000333769
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006090pyruvate metabolic process TAS--
    GO:0007596blood coagulation TAS--
    GO:0015711organic anion transport ----
    GO:0015718monocarboxylic acid transport TAS8124722
    GO:0015728mevalonate transport TAS1429658


    SLC16A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC16A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC16A1

    2 HMDB Compounds for SLC16A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Butyric acid1-Butyrate (see all 25)107-92-617786924
    Pyruvic acid2-Oxopropanoate (see all 14)127-17-3--

    10/20 DrugBank Compounds for SLC16A1 (see all 20)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyruvic acid2-Oxopropanoate (see all 8)127-17-3target--16110503 16213084 17606506 16326938 17583564
    transportersubstrate inhibitor16110503 16213084 17606506 16326938 17583564 9639576 9786900 9374487
    Lactic Acid-- 50-21-5transportersubstrate inhibitor9639576 8526936 9786900 10579682 9374487
    D-Lactic Acid-- 10326-41-7transportersubstrate inhibitor8526936 9786900 10579682
    Acetoacetic Acid-- 541-50-4transportersubstrate inhibitor9639576 9374487
    6-Deoxyglucose-- --transporterinhibitor9786900
    Acetic acidEthanoat (see all 2)64-19-7transportersubstrate10579682
    Alpha-ketoisovalerate2-Keto-3-methylbutyric acid (see all 9)759-05-7transporterinhibitor9639576
    AminohippurateAminohippurate Sodium (see all 7)94-16-6transportersubstrate10579682
    FoscarnetCarboxyphosphonic acid (see all 7)63585-09-1transportersubstrate10579682
    Gamma Hydroxybutyric Acid4-Hydroxy-butanoic acid (see all 9)591-81-1transporterinhibitor9786900

    10/34 Novoseek chemical compound relationships for SLC16A1 gene (see all 34)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alpha-cyano-4-hydroxycinnamate 92.6 14 10918994 (1), 19952290 (1), 15548847 (1), 19033663 (1) (see all 8)
    lactate 81.7 233 14695265 (7), 15531559 (5), 11820324 (5), 15997097 (5) (see all 83)
    butyrate 74.9 83 17786924 (10), 11882670 (7), 15765403 (6), 18054563 (4) (see all 22)
    pyruvate 72.4 22 16604139 (2), 12739169 (1), 17701893 (1), 18481946 (1) (see all 17)
    m-coumaric acid 72.3 3 15479001 (2), 15113150 (1)
    3-(3-hydroxyphenyl)propionic acid 70.6 4 15479001 (2), 15113150 (1)
    benzoic acid 68.1 8 12970388 (1), 17536819 (1), 12506986 (1), 17976262 (1) (see all 8)
    dids 60.5 2 10918994 (1), 15135232 (1)
    nateglinide 58.1 5 19881206 (2), 15737329 (1)
    ferulic acid 56 7 12784628 (3), 18190788 (1), 15941309 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC16A1 / MOT1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC16A1 gene (2 alternative transcripts): 
    NM_001166496.1  NM_003051.3  

    Unigene Cluster for SLC16A1:

    Solute carrier family 16, member 1 (monocarboxylic acid transporter 1)
    Hs.75231  [show with all ESTs]
    Unigene Representative Sequence: NM_001166496
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369626(uc001ecy.3) ENST00000458229 ENST00000443580 ENST00000429288
    ENST00000481750 ENST00000478835 ENST00000538576(uc001ecx.3) ENST00000433570(uc001ecz.3)


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    Additional cDNA sequence: 

    AF239919.1 AJ438942.2 AJ438943.2 AK000641.1 AK094064.1 AK296688.1 AK303603.1 AK312500.1 
    AL162079.1 BC026317.1 BC045664.1 L31801.1 

    16 DOTS entries:

    DT.447811  DT.95200772  DT.95200753  DT.95212264  DT.99979497  DT.100745133  DT.92445931  DT.100818409 
    DT.121379026  DT.91800069  DT.102829853  DT.121379090  DT.95220730  DT.95316005  DT.91937485  DT.91968405 

    24/345 AceView cDNA sequences (see all 345):

    BM458323 AL538076 AA325525 AJ438943 BI061618 CR624057 C17398 BQ379923 
    BX384531 BQ613806 AA352127 CB270411 AA307080 CB132987 CB146726 AI656300 
    BQ573814 AL162079 BF957742 AA477683 BX502067 AW614387 NM_003051 CA426348 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SLC16A1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6
    SP1:                                                      
    SP2:                                                      
    SP3:              -                                       


    ECgene alternative splicing isoforms for SLC16A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC16A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAATATATTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    SLC16A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainChoroid PlexusMature Choroid Plexus CellsChoroid Plexus
    BrainBlood Brain BarrierAdult Endothelial CellsBlood Brain Barrier, Endothelium
    BrainBlood Brain BarrierPostnatal Endothelial CellsBlood Brain Barrier, Endothelium
    LungRespiratory BronchiolesBasal CellsLung
    KidneyMetanephrosKidney
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Mature brain microvascular endothelial cells (Derivation of blood-...)

    See SLC16A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC16A1

    SOURCE GeneReport for Unigene cluster: Hs.75231

    UniProtKB/Swiss-Prot: MOT1_HUMAN, P53985
    Tissue specificity: Widely expressed in normal and in cancer cells

        SABiosciences Expression via Pathway-Focused PCR Array including SLC16A1: 
              Drug Transporters in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC16A1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SLC16A1 gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SLC16A11 solute carrier family 16, member 1 (monocarboxylic more 73.64(n)
    80.68(a)
      419875  NM_001006323.1  NP_001006323.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC16A16
    --
    79(a)
    1 ↔ 1
    4(129282431-129294105)
    African clawed frog
    (Xenopus laevis)
    Amphibia slc16a1-prov2 solute carrier family 16 (monocarboxylic acid transporters), more 77.1(n)    BC043779.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc16a12 solute carrier family 16 (monocarboxylic acid transporters), more 73.22(n)   368274  BC048883.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG116656
    Sln6
    Silnoon
    17(a)
    13(a)
    many ↔ many
    many ↔ many
    2R(1529160-1540288)
    2R(7732831-7739829)


    ENSEMBL Gene Tree for SLC16A1 (if available)
    TreeFam Gene Tree for SLC16A1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC16A1 gene
    SLC16A42  SLC16A32  SLC16A52  SLC16A102  SLC16A112  SLC16A22  SLC16A62  SLC16A82  
    SLC16A142  SLC16A72  SLC16A122  SLC16A92  SLC16A132  
    10 SIMAP similar genes for SLC16A1 using alignment to 5 protein entries:     MOT1_HUMAN (see all proteins):
    SLC16A7    SLC16A3    SLC16A8    SLC16A5    SLC16A12    SLC16A11
    SLC16A14    SLC16A6    SLC16A13    SLC16A10

    SLC16A1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SLC16A1
    PGOHUM00000260386


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/711 NCBI SNPs in SLC16A1 are shown (see all 711    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs94295041,2
    C,F,H,--111312840(+) TATCCG/AGTAGT 2 -- ds500111Minor allele frequency- A:0.07NS EA NA CSA WA 1212
    rs2015983801,2
    C--111312846(+) GTAGTC/TTNNNN 2 -- ds50010--------
    rs74167381,2
    C,H--111313174(+) TGCTTC/TTGAAT 2 -- ds50016Minor allele frequency- T:0.00NS EA NA 422
    rs174933131,2
    C,F,H,--111313283(+) GAAAGT/CGCTAT 2 -- ds500121Minor allele frequency- C:0.13NA NS EA CSA WA 2262
    rs94295051,2
    C,F,H,--111313430(+) GAAGAA/GGTACG 2 -- ut31 ese3 trp325Minor allele frequency- G:0.32NA NS EA WA CSA 2372
    rs118112051,2
    C,F,H,--111313496(+) CCTGCC/GAATAC 2 -- ut31 ese39Minor allele frequency- G:0.03NS EA NA WA 548
    rs413062071,2
    --111315040(+) GCAAAA/GATGGT 2 -- ut310--------
    rs115856901,2
    C,F,H,--111315227(+) AACAAA/CAATCC 2 -- ut31 ese39Minor allele frequency- C:0.02NS EA NA 1020
    rs725522711,2
    C,F,--111315461(-) TTGCTA/C/G/
            
    GGAAG
    8 R G W mis111MN NA 6068
    rs747472561,2
    F,--111315770(+) AATGAT/AGAATT 2 -- int11Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for SLC16A1 (113454469 - 113499635 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for SLC16A1
         4 CNVs: 0013 2322 3306 69591
    Human Gene Mutation Database (HGMD): SLC16A1

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SLC16A1 for disorders           About GeneDecksing

    OMIM gene information: 600682   
    OMIM disorders: 245340  610021  
    UniProtKB/Swiss-Prot: MOT1_HUMAN, P53985
  • Defects in SLC16A1 are the cause of symptomatic deficiency in lactate transport (SDLT) [MIM:245340]; also
  • known as erythrocyte lactate transporter defect. Deficiency of lactate transporter may result in an acidic
    intracellular environment created by muscle activity with consequent degeneration of muscle and release of myoglobin
    and creatine kinase. This defect might compromise extreme performance in otherwise healthy individuals
  • Defects in SLC16A1 are the cause of familial hyperinsulinemic hypoglycemia type 7 (HHF7) [MIM:610021]; also
  • known as exercise-induced hyperinsulinemic hypoglycemia. HHF7 is a dominantly inherited hypoglycemic disorder
    characterized by inappropriate insulin secretion during anaerobic exercise or on pyruvate load

    20/37 diseases for SLC16A1 (see all 37):    About MalaCards
    erythrocyte lactate transporter defect    exercise-induced hyperinsulinemic hypoglycemia    hyperinsulinemic hypoglycemia    alveolar soft part sarcoma
    beckwith-wiedemann syndrome    hypoglycemia    absence epilepsy    embryonal rhabdomyosarcoma
    hearing loss    malignant glioma    rhabdomyosarcoma    colon cancer
    colon adenocarcinoma    adenocarcinoma    ischemia    lung adenocarcinoma
    cervical carcinoma    sarcoma    cervicitis    gastric cancer

    10/11 Novoseek disease relationships for SLC16A1 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acidosis 29.1 2 12400867 (1), 16269908 (1)
    colon cancer 17.4 4 16042588 (2), 16405400 (1)
    adenocarcinoma 16.2 8 19597291 (2), 16423989 (1), 17760565 (1), 14525727 (1)
    hypoglycemia 11 2 17701893 (2)
    ischemia 0 2 19604494 (2)
    necrosis 0 3 15574223 (1), 10774612 (1)
    glioma 0 1 11277580 (1)
    tumors 0 14 12479094 (2), 16136905 (2), 18778892 (1), 20021214 (1) (see all 8)
    carcinoma 0 2 11953883 (2)
    melanoma 0 1 18778892 (1)

    Human Genome Epidemiology (HuGE) Navigator: SLC16A1 (7 documents)

    Export disorders for SLC16A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC16A1 gene, integrated from 9 sources (see all 243):
    (articles sorted by number of sources associating them with SLC16A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning of the human monocarboxylate transporter 1 and chromosomal localization of the SLC16A1 locus to 1p13.2-p12. (PubMed id 7835905)1, 2, 3, 9 Garcia C.K.... Francke U. (1994)
    2. The human monocarboxylate transporter, MCT1: genomic organization and promoter analysis. (PubMed id 11944921)1, 2, 9 Cuff M.A. and Shirazi-Beechey S.P. (2002)
    3. Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. (PubMed id 17701893)1, 2, 9 Otonkoski T.... Kere J. (2007)
    4. Molecular characterization of a membrane transporter for lactate, pyruvate, and other monocarboxylates: implications for the Cori cycle. (PubMed id 8124722)1, 3, 9 Garcia C.K....Brown M.S. (1994)
    5. Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport. (PubMed id 10590411)1, 2, 9 Merezhinskaya N.... Foellmer J.W. (2000)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Regulation of monocarboxylate transporter 1 (MCT1) promoter by butyrate in human intestinal epithelial cells: involvement of NF-kappaB pathway. (PubMed id 17786924)6, 9 Borthakur A....Dudeja P.K. (2008)
    9. Substrate-induced regulation of the human colonic monocarboxylate transporter, MCT1. (PubMed id 11882670)1, 9 Cuff M.A....Shirazi-Beechey S.P. (2002)
    10. PKC-dependent stimulation of the human MCT1 promoter involves transcription factor AP2. (PubMed id 19033536)1, 9 Saksena S....Dudeja P.K. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6566 HGNC: 10922 AceView: SLC16A1 Ensembl:ENSG00000155380 euGenes: HUgn6566
    ECgene: SLC16A1 H-InvDB: SLC16A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC16A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC16A1 gene:
    Search GeneIP for patents involving SLC16A1

    GeneCards and IP:
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