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

SLC16A1 Gene

protein-coding   GIFtS: 66
GCID: GC01M113454

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

(Previous names: solute carrier family 16 (monocarboxylic acid transporters),...)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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

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 exercise-induced hyperinsulinemic hypoglycemia, and erythrocyte lactate transporter defect, and among its related super-pathways are Transmembrane transport of small molecules and Pyruvate metabolism. 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-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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for SLC16A1 at MOPED 

Post-translational modifications:

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

  • SLC16A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC16A1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001159968.1  NP_003042.3  

    ENSEMBL proteins: 
     ENSP00000358640   ENSP00000416167   ENSP00000399104   ENSP00000397106   ENSP00000441065  
     ENSP00000445061  
    Reactome Protein details: P53985
    Human Recombinant Protein Products for SLC16A1: 
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    Cloud-Clone Corp. Proteins for SLC16A1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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 HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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:
     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


    SLC16A1 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         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


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC16A1:
     Large nuclei 

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC16A1 
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    miRNA
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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
    SwitchGear 3'UTR luciferase reporter plasmidSLC16A1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC16A1 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.50
    2Pyruvate metabolism
    Pyruvate metabolism0.60
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    3Bile salt and organic anion SLC transporters
    Bile salt and organic anion SLC transporters0.42
    Proton-coupled monocarboxylate transport0.33
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.72
    5Platelet activation, signaling and aggregation
    Hemostasis0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    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): 5/9 biological process terms (GO ID links to tree view) (see all 9):    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, Ligands according to IUPHAR, 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 (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--

    10/23 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

    10/34 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)

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

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    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)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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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 

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

    AU132335 AA367362 AL538076 CB146726 AU132155 BX384531 AW614387 AI565092 
    BF510302 BI061618 AL162079 AA352127 AU131482 BQ613806 BM806786 X85561 
    AA649196 AA307080 AA436446 AW439256 BM806260 BX402967 AI968323 CB132987 

    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)      SLC16A1 embryonic expression: see
    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 
     5/22 selected tissues (see all 22) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Adult Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
             brain/midbrain   
     
     Endothelium (Cardiovascular System)    fully expand to see all 4 entries
             Adult Endothelial Cells Blood Brain Barrier
             huvec   
     
     Lung (Respiratory System)    fully expand to see all 3 entries
             Basal Cells Respiratory Bronchioles
             visceral organ/lung/right lung   
     
     Blood Brain Barrier (Nervous System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             Ureter
             visceral organ   

    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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    (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 chordates.

    Orthologs for SLC16A1 gene from 5/11 species (see all 11)    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 84.49(n)1
    87.6(a)1
      3 (45.70 cM)5
    205011  NM_009196.31  NP_033222.11 
     1046386685 
    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
    Uncharacterized protein
    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)
    About This Section
    Paralogs for SLC16A1 gene
    SLC16A42  SLC16A32  SLC16A102  SLC16A52  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, 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) 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

    10/780 SNPs in SLC16A1 are shown (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
    ----------
    VAR_0104344
    Symptomatic deficiency in lactate transport (SDLT)4--see VAR_0104342 K E mis40--------
    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
    rs803582221,2
    Cpathogenic1113529458(-) CAACCA/GAGGCA 4 K E mis10--------
    VAR_0548044
    ----see VAR_0548042 S G mis40--------
    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

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

  • 20/34 diseases for SLC16A1 (see all 34):    About MalaCards
    exercise-induced hyperinsulinemic hypoglycemia    erythrocyte lactate transporter defect    hyperinsulinemic hypoglycemia    alveolar soft part sarcoma
    embryonal rhabdomyosarcoma    hypoglycemia    beckwith-wiedemann syndrome    rhabdomyosarcoma
    colon adenocarcinoma    malignant glioma    ischemia    lung adenocarcinoma
    colon cancer    myopathy    adenocarcinoma    ulcerative colitis
    hypoxia    sarcoma    melanoma    obesity


    SLC16A1 for disorders           About GeneDecksing

    10/11 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)
    About This Section

    PubMed articles for SLC16A1 gene, integrated from 9 sources (see all 255):
    (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. 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. (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. (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. (2000)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    8. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    9. 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. (2009)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)

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

      Query String
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    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)
    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
    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.)
    About This Section
    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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