Human Gene SLC16A1 (uc001ecy.3)
  Description: Homo sapiens solute carrier family 16, member 1 (monocarboxylic acid transporter 1) (SLC16A1), transcript variant 1, mRNA.
RefSeq Summary (NM_003051): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:113,454,470-113,498,975 Size: 44,506 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr1:113,456,513-113,471,930 Size: 15,418 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:113,454,470-113,498,975)mRNA (may differ from genome)Protein (500 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MOT1_HUMAN
DESCRIPTION: RecName: Full=Monocarboxylate transporter 1; Short=MCT 1; AltName: Full=Solute carrier family 16 member 1;
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.
INTERACTION: P61966:AP1S1; NbExp=1; IntAct=EBI-1054708, EBI-516199; O15121:DEGS1; NbExp=1; IntAct=EBI-1054708, EBI-1052713; Q13530:SERINC3; NbExp=1; IntAct=EBI-1054708, EBI-1045571;
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Widely expressed in normal and in cancer cells.
DISEASE: 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.
DISEASE: 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.
SIMILARITY: Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SLC16A1
CDC HuGE Published Literature: SLC16A1

-  MalaCards Disease Associations
  MalaCards Gene Search: SLC16A1
Diseases sorted by gene-association score: erythrocyte lactate transporter defect* (1569), monocarboxylate transporter 1 deficiency* (1290), hyperinsulinemic hypoglycemia, familial, 7* (1250), slc16a1-related hyperinsulinism* (100), hypoglycemia (12), alveolar soft-part sarcoma (7), cervix carcinoma (6), asphyxia neonatorum (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.41 RPKM in Heart - Left Ventricle
Total median expression: 308.96 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -161.70363-0.445 Picture PostScript Text
3' UTR -529.732043-0.259 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011701 - MFS
IPR020846 - MFS_dom
IPR016196 - MFS_dom_general_subst_transpt
IPR004743 - Monocarb_transpt

Pfam Domains:
PF07690 - Major Facilitator Superfamily

SCOP Domains:
103473 - MFS general substrate transporter

ModBase Predicted Comparative 3D Structure on P53985
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008028 monocarboxylic acid transmembrane transporter activity
GO:0015129 lactate transmembrane transporter activity
GO:0015130 mevalonate transmembrane transporter activity
GO:0015293 symporter activity
GO:0042803 protein homodimerization activity
GO:0097159 organic cyclic compound binding

Biological Process:
GO:0006090 pyruvate metabolic process
GO:0006629 lipid metabolic process
GO:0007098 centrosome cycle
GO:0015718 monocarboxylic acid transport
GO:0015728 mevalonate transport
GO:0032094 response to food
GO:0035873 lactate transmembrane transport
GO:0035879 plasma membrane lactate transport
GO:0042593 glucose homeostasis
GO:0050796 regulation of insulin secretion
GO:0050900 leukocyte migration
GO:0051780 behavioral response to nutrient
GO:0055085 transmembrane transport
GO:0071407 cellular response to organic cyclic compound

Cellular Component:
GO:0005813 centrosome
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AL162079 - Homo sapiens mRNA; cDNA DKFZp762B2310 (from clone DKFZp762B2310).
AK000641 - Homo sapiens cDNA FLJ20634 fis, clone KAT03557, highly similar to L31801 Homo sapiens monocarboxylate transporter 1.
BC026317 - Homo sapiens solute carrier family 16, member 1 (monocarboxylic acid transporter 1), mRNA (cDNA clone MGC:26141 IMAGE:4811581), complete cds.
AJ438942 - Homo sapiens mRNA for monocarboxylate transporter isoform 1 (SLC16A1 gene), 3'UTR.
JD048514 - Sequence 29538 from Patent EP1572962.
JD438699 - Sequence 419723 from Patent EP1572962.
JD345424 - Sequence 326448 from Patent EP1572962.
JD207153 - Sequence 188177 from Patent EP1572962.
JD302386 - Sequence 283410 from Patent EP1572962.
L31801 - Homo sapiens monocarboxylate transporter 1 (SLC16A1) mRNA, complete cds.
JD098891 - Sequence 79915 from Patent EP1572962.
JD294832 - Sequence 275856 from Patent EP1572962.
JD182712 - Sequence 163736 from Patent EP1572962.
JD271649 - Sequence 252673 from Patent EP1572962.
JD289628 - Sequence 270652 from Patent EP1572962.
AK296688 - Homo sapiens cDNA FLJ53381 complete cds, highly similar to Monocarboxylate transporter 1.
AK303603 - Homo sapiens cDNA FLJ53399 complete cds, highly similar to Monocarboxylate transporter 1.
JD385096 - Sequence 366120 from Patent EP1572962.
EU831949 - Synthetic construct Homo sapiens clone HAIB:100066978; DKFZo008E0223 solute carrier family 16, member 1 (monocarboxylic acid transporter 1) protein (SLC16A1) gene, encodes complete protein.
EU832043 - Synthetic construct Homo sapiens clone HAIB:100067072; DKFZo004E0224 solute carrier family 16, member 1 (monocarboxylic acid transporter 1) protein (SLC16A1) gene, encodes complete protein.
AK312500 - Homo sapiens cDNA, FLJ92862, highly similar to Homo sapiens solute carrier family 16 (monocarboxylic acid transporters), member 1 (SLC16A1), mRNA.
DQ895286 - Synthetic construct Homo sapiens clone IMAGE:100009746; FLH185576.01L; RZPDo839C09147D solute carrier family 16, member 1 (monocarboxylic acid transporter 1) (SLC16A1) gene, encodes complete protein.
EU176206 - Synthetic construct Homo sapiens clone IMAGE:100006457; FLH185583.01X; RZPDo839B05250D solute carrier family 16, member 1 (monocarboxylic acid transporter 1) (SLC16A1) gene, encodes complete protein.
AK094064 - Homo sapiens cDNA FLJ36745 fis, clone UTERU2014024, highly similar to MONOCARBOXYLATE TRANSPORTER 1.
BC045664 - Homo sapiens solute carrier family 16, member 1 (monocarboxylic acid transporter 1), mRNA (cDNA clone MGC:44475 IMAGE:5298234), complete cds.
AJ438943 - Homo sapiens mRNA for monocarboxylate transporter isoform 1 (SLC16A1 gene), 5'UTR.
AF239919 - Homo sapiens colonic monocarboxylate transporter 1 (MCT1) gene, partial sequence.
JD468249 - Sequence 449273 from Patent EP1572962.
JD216618 - Sequence 197642 from Patent EP1572962.
JD393347 - Sequence 374371 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P53985 (Reactome details) participates in the following event(s):

R-HSA-204392 Basigin binds MCT1, MCT3 and MCT4
R-HSA-433698 SLC16A1,3,7,8 cotransport monocarboxylates, H+ from extracellular region to cytosol
R-HSA-373867 BSG:MCTs cotransport LACT, H+ from extracellular region to cytosol
R-HSA-373875 BSG:MCTs cotransport LACT, H+ from cytosol to extracellular region
R-HSA-210991 Basigin interactions
R-HSA-202733 Cell surface interactions at the vascular wall
R-HSA-433692 Proton-coupled monocarboxylate transport
R-HSA-109582 Hemostasis
R-HSA-70268 Pyruvate metabolism
R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds
R-HSA-425471 Bile salt and organic anion SLC transporters
R-HSA-71406 Pyruvate metabolism and Citric Acid (TCA) cycle
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-382551 Transport of small molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: MCT1, MOT1_HUMAN, NM_003051, NP_003042, P53985, Q5T8R6, Q9NSJ9
UCSC ID: uc001ecy.3
RefSeq Accession: NM_003051
Protein: P53985 (aka MOT1_HUMAN)
CCDS: CCDS858.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_003051.3
exon count: 5CDS single in 3' UTR: no RNA size: 3927
ORF size: 1503CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3146.50frame shift in genome: no % Coverage: 99.54
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.