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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

MalaCards

our new
Human Malady Compendium

(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 plasmid: SLC16A1 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

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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	Uscn Proteins for SLC16A1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005739	mitochondrion	IEA	--
GO:0005886	plasma membrane	TAS	--
GO:0016020	membrane	TAS	8124722
GO:0016021	integral 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, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--
GO:0008028	monocarboxylic acid transmembrane transporter activity	TAS	8124722
GO:0015130	mevalonate transmembrane transporter activity	TAS	1429658
GO:0015293	symporter activity	IEA	--
GO:0015355	secondary active monocarboxylate transmembrane transporter activity	IEA	--

SLC16A1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for SLC16A1:

Large nuclei

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SLC16A1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC16A1

(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 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

SLC-mediated transmembrane transport

	SLC-mediated transmembrane transport	1.00			Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds	0.38
	Transmembrane transport of small molecules	0.50

Bile salt and organic anion SLC transporters

Bile salt and organic anion SLC transporters

1.00

Proton-coupled monocarboxylate transport

0.33

Pyruvate metabolism

Pyruvate metabolism

1.00

Basigin interactions

Basigin interactions

1.00

Cell surface interactions at the vascular wall

Cell surface interactions at the vascular wall

1.00

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 Central^TM 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 (P53985^{1, 3} ENSP00000358640⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AP1S1	P61966¹^,³, ENSP00000336666⁴	EBI-1054708,EBI-516199 I2D: score=2 STRING: ENSP00000336666
SERINC3	Q13530¹^,³, ENSP00000255175⁴	EBI-1054708,EBI-1045571 I2D: score=2 STRING: ENSP00000255175
DEGS1	O15121¹^,³, ENSP00000316476⁴	EBI-1054708,EBI-1052713 I2D: score=2 STRING: ENSP00000316476
BSG	P35613³, ENSP00000333769⁴	I2D: score=3 STRING: ENSP00000333769
UBC	P0CG48³, ENSP00000344818⁴	I2D: 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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0006090	pyruvate metabolic process	TAS	--
GO:0007596	blood coagulation	TAS	--
GO:0015711	organic anion transport	--	--
GO:0015718	monocarboxylic acid transport	TAS	8124722
GO:0015728	mevalonate transport	TAS	1429658

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

Compound	Synonyms	CAS #	PubMed Ids
Butyric acid	1-Butyrate (see all 25)	107-92-6	17786924
Pyruvic acid	2-Oxopropanoate (see all 14)	127-17-3	--

10/20 DrugBank Compounds for SLC16A1 (see all 20) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Pyruvic acid	2-Oxopropanoate (see all 8)	127-17-3	target	--	16110503 16213084 17606506 16326938 17583564
Pyruvic acid	2-Oxopropanoate (see all 8)	127-17-3	transporter	substrate inhibitor	16110503 16213084 17606506 16326938 17583564 9639576 9786900 9374487
Lactic Acid	--	50-21-5	transporter	substrate inhibitor	9639576 8526936 9786900 10579682 9374487
D-Lactic Acid	--	10326-41-7	transporter	substrate inhibitor	8526936 9786900 10579682
Acetoacetic Acid	--	541-50-4	transporter	substrate inhibitor	9639576 9374487
6-Deoxyglucose	--	--	transporter	inhibitor	9786900
Acetic acid	Ethanoat (see all 2)	64-19-7	transporter	substrate	10579682
Alpha-ketoisovalerate	2-Keto-3-methylbutyric acid (see all 9)	759-05-7	transporter	inhibitor	9639576
Aminohippurate	Aminohippurate Sodium (see all 7)	94-16-6	transporter	substrate	10579682
Foscarnet	Carboxyphosphonic acid (see all 7)	63585-09-1	transporter	substrate	10579682
Gamma Hydroxybutyric Acid	4-Hydroxy-butanoic acid (see all 9)	591-81-1	transporter	inhibitor	9786900

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,
RNAi Products from EMD Millipore,
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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

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

Cell

Category (developmental path)

Brain

Choroid Plexus

Mature Choroid Plexus Cells

Choroid Plexus

Brain

Blood Brain Barrier

Adult Endothelial Cells

Blood Brain Barrier, Endothelium

Brain

Blood Brain Barrier

Postnatal Endothelial Cells

Blood Brain Barrier, Endothelium

Lung

Respiratory Bronchioles

Lung

Kidney

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

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)
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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)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs9429504^1,2	C,F,H	--	111312840(+)	`TATCCG/AGTAGT`	2	--	ds500¹		11		NS EA NA CSA WA	1212
rs201598380^1,2	C	--	111312846(+)	`GTAGTC/TTNNNN`	2	--	ds500¹		0	--	--	--	--
rs7416738^1,2	C,H	--	111313174(+)	`TGCTTC/TTGAAT`	2	--	ds500¹		6		NS EA NA	422
rs17493313^1,2	C,F,H	--	111313283(+)	`GAAAGT/CGCTAT`	2	--	ds500¹		21		NA NS EA CSA WA	2262
rs9429505^1,2	C,F,H	--	111313430(+)	`GAAGAA/GGTACG`	2	--	ut3¹ ese³ trp³		25		NA NS EA WA CSA	2372
rs11811205^1,2	C,F,H	--	111313496(+)	`CCTGCC/GAATAC`	2	--	ut3¹ ese³		9		NS EA NA WA	548
rs41306207^1,2		--	111315040(+)	`GCAAAA/GATGGT`	2	--	ut3¹		0	--	--	--	--
rs11585690^1,2	C,F,H	--	111315227(+)	`AACAAA/CAATCC`	2	--	ut3¹ ese³		9		NS EA NA	1020
rs72552271^1,2	C,F	--	111315461(-)	`TTGCTA/C/G/T GGAAG`	8	R G W	mis¹		11		MN NA	6068
rs74747256^1,2	F	--	111315770(+)	`AATGAT/AGAATT`	2	--	int¹		1		WA	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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QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing 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.)
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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)
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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

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)
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)
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)
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)
Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport. (PubMed id 10590411)^{1, 2, 9} Merezhinskaya N.... Foellmer J.W. (2000)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
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)
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)
Substrate-induced regulation of the human colonic monocarboxylate transporter, MCT1. (PubMed id 11882670)^{1, 9} Cuff M.A....Shirazi-Beechey S.P. (2002)
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)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(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, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SLC16A1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SLC16A1 gene
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Patent Information for SLC16A1 gene:
Search GeneIP for patents involving SLC16A1

GeneCards and IP:
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