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SLC16A1 Gene

protein-coding   GIFtS: 66
GCID: GC01M113454

Solute Carrier Family 16 (Monocarboxylate Transporter),...

(Previous names: solute carrier family 16 (monocarboxylic acid transporters),...)
  See SLC16A1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 16 (Monocarboxylate Transporter), Member 11 2     MCT 12 3
MCT12 3 5     HHF72 5
Solute Carrier Family 16 (Monocarboxylic Acid Transporters), Member 11 2     MCT2
Solute Carrier Family 16, Member 1 (Monocarboxylic Acid Transporter 1)1 2     Monocarboxylate Transporter 12
Solute Carrier Family 16 Member 12 3     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC16A1 Gene:
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)

GeneCards Summary for SLC16A1 Gene:
SLC16A1 (solute carrier family 16 (monocarboxylate transporter), member 1) is a protein-coding gene. Diseases associated with SLC16A1 include erythrocyte lactate transporter defect, and exercise-induced hyperinsulinemic hypoglycemia. GO annotations related to this gene include secondary active monocarboxylate transmembrane transporter activity and symporter activity. An important paralog of this gene is SLC16A4.

UniProtKB/Swiss-Prot: MOT1_HUMAN, P53985
Function: Proton-coupled 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. Depending on the tissue and on
cicumstances, mediates the import or export of lactic acid and ketone bodies. Required for normal nutrient
assimilation, increase of white adipose tissue and body weight gain when on a high-fat diet. Plays a role in
cellular responses to a high-fat diet by modulating the cellular levels of lactate and pyruvate, small molecules
that contribute to the regulation of central metabolic pathways and insulin secretion, with concomitant effects
on plasma insulin levels and blood glucose homeostasis

Gene Wiki entry for SLC16A1 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   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 Chromatin IP Primers for SLC16A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MOT1_HUMAN, P53985 (See protein sequence)
Recommended Name: Monocarboxylate transporter 1  
Size: 500 amino acids; 53944 Da
Subunit: Interacts with EMB. Interaction with either BSG or EMB is required for expression at the cell membrane
(By similarity). Interacts with BSG; this is required for expression at the cell membrane
Miscellaneous: Overexpression in pancreatic beta-cells triggers insulin secretion in response to pyruvate, causing
hyperinsulemia and hypoglycemia during strenuous exercise
Secondary accessions: Q5T8R6 Q9NSJ9

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

Explore proteomics data for SLC16A1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys224, Lys479
  • Modification sites at PhosphoSitePlus

  • See SLC16A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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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    antibodies-online antibodies for SLC16A1 (27 products) 

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    antibodies-online kits for SLC16A1 (11 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Monocarboxylate transporter 1
    SLC16 family of monocarboxylate transporters

    4 InterPro protein domains:
     IPR011701 MFS
     IPR020846 MFS_dom
     IPR004743 Monocarb_transpt
     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


    Find genes that share domains with SLC16A1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MOT1_HUMAN, P53985
    Function: Proton-coupled 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. Depending on the tissue and on
    cicumstances, mediates the import or export of lactic acid and ketone bodies. Required for normal nutrient
    assimilation, increase of white adipose tissue and body weight gain when on a high-fat diet. Plays a role in
    cellular responses to a high-fat diet by modulating the cellular levels of lactate and pyruvate, small molecules
    that contribute to the regulation of central metabolic pathways and insulin secretion, with concomitant effects
    on plasma insulin levels and blood glucose homeostasis

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

         Gene Ontology (GO): Selected molecular function terms (see all 7):    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--
         
    Find genes that share ontologies with SLC16A1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC16A1:
     Large nuclei 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC16A1
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    miRNA
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    miRTarBase miRNAs that target SLC16A1:
    hsa-mir-484 (MIRT016624), hsa-mir-320a (MIRT044631), hsa-mir-615-3p (MIRT040070), hsa-mir-23b-3p (MIRT046336), hsa-mir-124-3p (MIRT002665), hsa-mir-376a-5p (MIRT001745), hsa-mir-128-3p (MIRT021959), hsa-mir-376a-3p (MIRT019664)

    Block miRNA regulation of human, mouse, rat SLC16A1 using miScript Target Protectors
    Selected qRT-PCR 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
    SwitchGear 3'UTR luciferase reporter plasmidSLC16A1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SLC16A1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC16A1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MOT1_HUMAN, P53985: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    mitochondrion2
    cytosol1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005813centrosome IDA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane ISS--
    GO:0016020membrane TAS8124722

    Find genes that share ontologies with SLC16A1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC16A1 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.47
    Proton-coupled monocarboxylate transport0.00
    2Citric acid cycle (TCA cycle)
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    Pyruvate metabolism0.00
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.71
    4Hemostasis
    Hemostasis0.43
    5Metabolism
    Metabolism0.38


    Find genes that share SuperPaths with SLC16A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Reactome Pathways for SLC16A1
        Pyruvate metabolism
    Proton-coupled monocarboxylate transport
    Basigin interactions


        Pathway & Disease-focused RT2 Profiler PCR Array including SLC16A1: 
              Drug Transporters in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SLC16A1

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

    Selected 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): Selected biological process terms (see all 13):    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

    Find genes that share ontologies with SLC16A1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC16A1 (MOT1)

    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--

    Selected DrugBank Compounds for SLC16A1 (see all 23)    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
    AmpicillinAminobenzylpenicillin (see all 16)69-53-4transporter--10564841
    Benzoic Acid-- 65-85-0transporter--10714609

    Selected Novoseek inferred 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)



    Find genes that share compounds with SLC16A1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    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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      QuantiTect SYBR Green Assays in human, mouse, rat SLC16A1
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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 345):

    X85566 AU132335 AI565092 BQ573814 BM542763 AI656300 BX384531 BX402967 
    BP353115 AW614387 AK094064 AI361209 AA477683 AA743787 AU132502 BP351113 
    AA376008 AL538076 CA426348 AU132155 AW197218 CB146726 AI968323 L31801 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC16A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATATATTT
    SLC16A1 Expression
    About this image


    SLC16A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Adult Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
             Mature brain microvascular endothelial cells
     
     Endothelium (Cardiovascular System)    fully expand to see all 4 entries
             Adult Endothelial Cells Blood Brain Barrier
             Mature brain microvascular endothelial cells
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Proerythroblasts Hematopoietic Bone Marrow
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
    SLC16A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC16A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75231

    UniProtKB/Swiss-Prot: MOT1_HUMAN, P53985
    Tissue specificity: Detected in heart and in blood lymphocytes and monocytes (at protein level). Widely expressed

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC16A1: 
              Drug Transporters in human mouse rat

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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SLC16A1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc16a11 , 5 solute carrier family 16 (monocarboxylic acid transporters), more1, 5 84.01(n)1
    87.2(a)1
      3 (45.70 cM)5
    205011  NM_009196.41  NP_033222.11 
     1046386685 
    chicken
    (Gallus gallus)
    Aves SLC16A11 solute carrier family 16, member 1 (monocarboxylic more 73.57(n)
    80.48(a)
      419875  NM_001006323.1  NP_001006323.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC16A16
    solute carrier family 16 (monocarboxylate transpor...
    79(a)
    1 ↔ 1
    4(129282431-129317713)
    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 


    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)
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    Paralogs for SLC16A1 gene
    SLC16A42  SLC16A32  SLC16A52  SLC16A112  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

    Find genes that share paralogs with SLC16A1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for SLC16A1
    PGOHUM00000260386


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC16A1 (see all 780)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs725522711,2,,4
    C,FSymptomatic deficiency in lactate transport (SDLT)4 pathogenic1113525640(-) TTGCTG/AGGAAG 4 /R /G mis111Minor allele frequency- A:0.00MN NA 6068
    VAR_0104344
    Symptomatic deficiency in lactate transport (SDLT)4--see VAR_0104342 K E mis40--------
    rs803582221,2
    Cpathogenic1113529458(-) CAACCA/GAGGCA 4 K E mis10--------
    rs2020947261,2
    --111326877(+) GCCTT-/TCTTTTT 2 -- int10--------
    rs352950621,2
    C,F--111326878(+) CCTTTC/-TTTTT 2 -- int13Minor allele frequency- -:0.50NA CSA 6
    rs726287691,2
    C--111326878(+) CCTTTT/CTTTTT 2 -- int12Minor allele frequency- C:0.25NA CSA 4
    rs413062071,2
    C--113456181(+) GCAAAA/GATGGT 2 -- ut310--------
    rs106848921,2
    C--113458395(+) AGATGGAA/-GAAGA 2 -- cds11Minor allele frequency- -:0.00CSA 2
    rs38842791,2
    C--113458397(+) GAAGAAGA/-CAGTG 2 -- cds11Minor allele frequency- -:0.00NA 2
    rs112997511,2
    C,F--113458794(+) TAAACT/-TTTTT 2 -- int1 trp32Minor allele frequency- -:0.50NA 4

    HapMap Linkage Disequilibrium report for SLC16A1 (113454469 - 113499635 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SLC16A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv24626CNV Loss19812545
    nsv483141CNV Gain15286789
    essv21692CNV CNV17122850

    Human Gene Mutation Database (HGMD): SLC16A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC16A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC16A1

    (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.)
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    OMIM gene information: 600682   
    OMIM disorders: 245340  610021  
    UniProtKB/Swiss-Prot: MOT1_HUMAN, P53985
  • Symptomatic deficiency in lactate transport (SDLT) [MIM:245340]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Familial hyperinsulinemic hypoglycemia 7 (HHF7) [MIM:610021]: Dominantly inherited hypoglycemic disorder
    characterized by inappropriate insulin secretion during anaerobic exercise or on pyruvate load. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 3 diseases for SLC16A1:    
    About MalaCards
    erythrocyte lactate transporter defect    exercise-induced hyperinsulinemic hypoglycemia    alveolar soft part sarcoma


    Find genes that share disorders with SLC16A1           About GenesLikeMe

    Selected Novoseek inferred 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)

    Genetic Association Database (GAD): SLC16A1
    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)
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    PubMed articles for SLC16A1 gene, integrated from 10 sources (see all 261):
    (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. (Genomics 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. (Biochem. Biophys. Res. Commun. 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. (Am. J. Hum. Genet. 2007)
    4. Genetic variations in the MCT1 (SLC16A1) gene in the Chinese population of Singapore. (PubMed id 19881260)1, 4, 9 Lean C.B. and Lee E.J. (Drug Metab. Pharmacokinet. 2009)
    5. 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. (Cell 1994)
    6. Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport. (PubMed id 10590411)1, 2, 9 Merezhinskaya N.... Foellmer J.W. (Muscle Nerve 2000)
    7. Presence and localization of three lactic acid transporters (MCT1, -2, and -4) in separated human granulocytes, lymphocytes, and monocytes. (PubMed id 15505343)1, 2, 9 Merezhinskaya N....Fishbein W.N. (J. Histochem. Cytochem. 2004)
    8. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. (PubMed id 19898482)1, 4 Ross C.J....Hayden M.R. (Nat. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6566 HGNC: 10922 AceView: SLC16A1 Ensembl:ENSG00000155380 euGenes: HUgn6566
    ECgene: SLC16A1 H-InvDB: SLC16A1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC16A1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SLC16A1 Genetics and Cytogenetics in Oncology and Haematology

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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