Monocarboxylate transporter 1 - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot P53985 (MOT1_HUMAN)

Last modified June 16, 2009. Version 88. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
    Monocarboxylate transporter 1
      Short name=MCT 1
Alternative name(s):
    Solute carrier family 16 member 1

Gene names

Name:	SLC16A1
Synonyms:	MCT1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	500 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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General annotation (Comments)

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.
Subcellular location	Cell membrane; Multi-pass membrane protein.
Tissue specificity	Widely expressed in normal and in cancer cells.
Involvement in 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. Ref.8 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. Ref.9
Sequence similarities	Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. [View classification]

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Ontologies

Keywords
Biological process	Symport Transport
Cellular component	Cell membrane Membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Transmembrane
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	mevalonate transport Traceable author statement. Source: ProtInc organic anion transport Inferred from electronic annotation. Source: InterPro
Cellular component	integral to membrane Traceable author statement. Source: ProtInc membrane fraction Traceable author statement. Source: ProtInc plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	mevalonate transmembrane transporter activity Traceable author statement. Source: ProtInc protein binding Inferred from physical interaction. Source: IntAct secondary active monocarboxylate transmembrane transporter activity Inferred from electronic annotation. Source: InterPro symporter activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

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Binary interactions

With	Entry	#Exp.	IntAct
AP1S1	P61966	1	EBI-1054708,EBI-516199
DEGS1	O15121	1	EBI-1054708,EBI-1052713
SERINC3	Q13530	1	EBI-1054708,EBI-1045571

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 500

500

Monocarboxylate transporter 1

PRO_0000211381

Regions

Topological domain

1 – 15

Cytoplasmic Potential

Transmembrane

16 – 36

Potential

Topological domain

37 – 59

Extracellular Potential

Transmembrane

60 – 80

Potential

Topological domain

81 – 86

Cytoplasmic Potential

Transmembrane

87 – 107

Potential

Topological domain

108 – 111

Extracellular Potential

Transmembrane

112 – 132

Potential

Topological domain

133 – 143

Cytoplasmic Potential

Transmembrane

144 – 164

Potential

Topological domain

165 – 166

Extracellular Potential

Transmembrane

167 – 187

Potential

Topological domain

188 – 262

Cytoplasmic Potential

Transmembrane

263 – 283

Potential

Topological domain

284 – 298

Extracellular Potential

Transmembrane

299 – 319

Potential

Topological domain

320 – 328

Cytoplasmic Potential

Transmembrane

329 – 349

Potential

Topological domain

350 – 353

Extracellular Potential

Transmembrane

354 – 374

Potential

Topological domain

375 – 389

Cytoplasmic Potential

Transmembrane

390 – 410

Potential

Topological domain

411 – 422

Extracellular Potential

Transmembrane

423 – 443

Potential

Topological domain

444 – 500

Cytoplasmic Potential

Amino acid modifications

Modified residue

210

Phosphoserine By similarity

Modified residue

213

Phosphoserine Ref.4

Modified residue

461

Phosphoserine Ref.5 Ref.6

Modified residue

466

Phosphothreonine Ref.4 Ref.6

Modified residue

467

Phosphoserine Ref.4 Ref.5 Ref.6

Modified residue

483

Phosphoserine Ref.5 Ref.6

Modified residue

498

Phosphoserine Ref.4 Ref.5 Ref.6

Natural variations

Natural variant

S → G: dbSNP rs11551867.

VAR_054804

Natural variant

204

K → E in SDLT. Ref.8

VAR_010434

Natural variant

472

G → R in SDLT. Ref.8

VAR_010435

Natural variant

490

E → D: dbSNP rs1049434. Ref.8 Ref.3

VAR_010436

Experimental info

Sequence conflict

480

A → T in AAC41707. Ref.1

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Sequences

Sequence

Length

Mass (Da)

Tools

P53985-1 [UniParc].

Last modified April 27, 2001. Version 2.
Checksum: 3F5B05C9B962ECC8
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FASTA

500

53,958

        10         20         30         40         50         60 
MPPAVGGPVG YTPPDGGWGW AVVIGAFISI GFSYAFPKSI TVFFKEIEGI FHATTSEVSW 

        70         80         90        100        110        120 
ISSIMLAVMY GGGPISSILV NKYGSRIVMI VGGCLSGCGL IAASFCNTVQ QLYVCIGVIG 

       130        140        150        160        170        180 
GLGLAFNLNP ALTMIGKYFY KRRPLANGLA MAGSPVFLCT LAPLNQVFFG IFGWRGSFLI 

       190        200        210        220        230        240 
LGGLLLNCCV AGALMRPIGP KPTKAGKDKS KASLEKAGKS GVKKDLHDAN TDLIGRHPKQ 

       250        260        270        280        290        300 
EKRSVFQTIN QFLDLTLFTH RGFLLYLSGN VIMFFGLFAP LVFLSSYGKS QHYSSEKSAF 

       310        320        330        340        350        360 
LLSILAFVDM VARPSMGLVA NTKPIRPRIQ YFFAASVVAN GVCHMLAPLS TTYVGFCVYA 

       370        380        390        400        410        420 
GFFGFAFGWL SSVLFETLMD LVGPQRFSSA VGLVTIVECC PVLLGPPLLG RLNDMYGDYK 

       430        440        450        460        470        480 
YTYWACGVVL IISGIYLFIG MGINYRLLAK EQKANEQKKE SKEEETSIDV AGKPNEVTKA 

       490        500 
AESPDQKDTE GGPKEEESPV

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"cDNA cloning of the human monocarboxylate transporter 1 and chromosomal localization of the SLC16A1 locus to 1p13.2-p12." Garcia C.K., Li X., Luna J., Francke U. Genomics 23:500-503(1994) [PubMed: 7835905] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Heart.
[2]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Melanoma.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ASP-490. Tissue: Brain.
[4]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-213; THR-466; SER-467 AND SER-498, MASS SPECTROMETRY. Tissue: Epithelium.
[5]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-461; SER-467; SER-483 AND SER-498, MASS SPECTROMETRY.
[6]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-461; THR-466; SER-467; SER-483 AND SER-498, MASS SPECTROMETRY.
[7]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[8]	"Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport." Merezhinskaya N., Fishbein W.N., Davis J.I., Foellmer J.W. Muscle Nerve 23:90-97(2000) [PubMed: 10590411] [Abstract] Cited for: VARIANTS SDLT GLU-204 AND ARG-472, VARIANT ASP-490.
[9]	"Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells." Otonkoski T., Jiao H., Kaminen-Ahola N., Tapia-Paez I., Ullah M.S., Parton L.E., Schuit F., Quintens R., Sipilae I., Mayatepek E., Meissner T., Halestrap A.P., Rutter G.A., Kere J. Am. J. Hum. Genet. 81:467-474(2007) [PubMed: 17701893] [Abstract] Cited for: INVOLVEMENT IN HHF7.
+	Additional computationally mapped references.

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Cross-references

Sequence databases
	L31801 mRNA. Translation: AAC41707.1. AL162079 mRNA. Translation: CAB82412.1. BC026317 mRNA. Translation: AAH26317.1.
IPI	IPI00024650.
PIR	A55568.
RefSeq	NP_003042.3.
UniGene	Hs.75231
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	P53985. 6 interactions.
Protein family/group databases
TCDB	2.A.1.13.1. major facilitator superfamily (MFS).
PTM databases
PhosphoSite	P53985.
Proteomic databases
PRIDE	P53985.
Genome annotation databases
Ensembl	ENSG00000155380. Homo sapiens. [Contig view]
GeneID	6566.
KEGG	hsa:6566.
Organism-specific databases
GeneCards	GC01M113255.
HGNC	HGNC:10922. SLC16A1.
HPA	CAB017489.
MIM	156575. phenotype. 245340. phenotype. 600682. gene. 610021. phenotype.
Orphanet	165991. Hyperinsulinism, exercise-induced. 657. Persistent hyperinsulinemic hypoglycemia of infancy.
PharmGKB	PA35813.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P53985.
HOVERGEN	P53985.
Enzyme and pathway databases
Reactome	REACT_1046. Pyruvate metabolism and TCA cycle. REACT_474. Metabolism of carbohydrates.
Gene expression databases
ArrayExpress	P53985.
Bgee	P53985.
CleanEx	HS_SLC16A1.
GermOnline	ENSG00000155380. Homo sapiens.
Family and domain databases
InterPro	IPR011701. MFS_1. IPR004743. Monocarb_transpt. [Graphical view]
Pfam	PF07690. MFS_1. 1 hit. [Graphical view]
TIGRFAMs	TIGR00892. 2A0113. 1 hit.
PROSITE	PS50850. MFS. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
DrugBank	DB00119. Pyruvic acid.
NextBio	25547.
PMAP-CutDB	P53985.
SOURCE	Search...

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Entry information

Entry name

MOT1_HUMAN

Accession

Primary (citable) accession number: P53985
Secondary accession number(s): Q9NSJ9

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	April 27, 2001
Last modified:	June 16, 2009
This is version 88 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Natural variations

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

Protein family/group databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents