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Protein

Monocarboxylate transporter 8

Gene

SLC16A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Very active and specific thyroid hormone transporter. Stimulates cellular uptake of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine. Does not transport Leu, Phe, Trp or Tyr.2 Publications

GO - Molecular functioni

  • monocarboxylic acid transmembrane transporter activity Source: ProtInc
  • symporter activity Source: UniProtKB-KW
  • thyroid hormone transmembrane transporter activity Source: UniProtKB
  • transporter activity Source: ProtInc

GO - Biological processi

  • monocarboxylic acid transport Source: ProtInc
  • thyroid hormone transport Source: UniProtKB
  • transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Symport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000147100-MONOMER.
ReactomeiR-HSA-879518. Transport of organic anions.

Protein family/group databases

TCDBi2.A.1.13.10. the major facilitator superfamily (mfs).

Names & Taxonomyi

Protein namesi
Recommended name:
Monocarboxylate transporter 8
Short name:
MCT 8
Alternative name(s):
Monocarboxylate transporter 7
Short name:
MCT 7
Solute carrier family 16 member 2
X-linked PEST-containing transporter
Gene namesi
Name:SLC16A2
Synonyms:MCT8, XPCT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:10923. SLC16A2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini2 – 96CytoplasmicSequence analysisAdd BLAST95
Transmembranei97 – 117HelicalSequence analysisAdd BLAST21
Topological domaini118 – 143ExtracellularSequence analysisAdd BLAST26
Transmembranei144 – 164HelicalSequence analysisAdd BLAST21
Topological domaini165 – 171CytoplasmicSequence analysis7
Transmembranei172 – 192HelicalSequence analysisAdd BLAST21
Topological domaini193 – 200ExtracellularSequence analysis8
Transmembranei201 – 221HelicalSequence analysisAdd BLAST21
Topological domaini222 – 229CytoplasmicSequence analysis8
Transmembranei230 – 250HelicalSequence analysisAdd BLAST21
Topological domaini251 – 258ExtracellularSequence analysis8
Transmembranei259 – 279HelicalSequence analysisAdd BLAST21
Topological domaini280 – 322CytoplasmicSequence analysisAdd BLAST43
Transmembranei323 – 343HelicalSequence analysisAdd BLAST21
Topological domaini344 – 356ExtracellularSequence analysisAdd BLAST13
Transmembranei357 – 377HelicalSequence analysisAdd BLAST21
Topological domaini378 – 386CytoplasmicSequence analysis9
Transmembranei387 – 407HelicalSequence analysisAdd BLAST21
Topological domaini408 – 409ExtracellularSequence analysis2
Transmembranei410 – 430HelicalSequence analysisAdd BLAST21
Topological domaini431 – 447CytoplasmicSequence analysisAdd BLAST17
Transmembranei448 – 468HelicalSequence analysisAdd BLAST21
Topological domaini469 – 477ExtracellularSequence analysis9
Transmembranei478 – 498HelicalSequence analysisAdd BLAST21
Topological domaini499 – 539CytoplasmicSequence analysisAdd BLAST41

GO - Cellular componenti

  • integral component of plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Monocarboxylate transporter 8 deficiency (MCT8 deficiency)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionConsists of a severe form of X-linked psychomotor retardation combined with abnormal thyroid hormone (TH) levels. Thyroid hormone deficiency can be caused by defects of hormone synthesis and action, but it has also been linked to a defect in cellular hormone transport. Affected patients are males with abnormal relative concentrations of three circulating iodothyronines, as well as severe neurological abnormalities, including global developmental delay, central hypotonia, spastic quadriplegia, dystonic movements, rotary nystagmus, and impaired gaze and hearing. Heterozygous females had a milder thyroid phenotype and no neurological defects.
See also OMIM:300523
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_059054120S → F in MCT8 deficiency; impaired homodimerization. 2 PublicationsCorresponds to variant rs113994162dbSNPEnsembl.1
Natural variantiVAR_074572147G → R in MCT8 deficiency; impaired thyroid hormone transporter activity; does not affect localization to the cell membrane. 1 Publication1
Natural variantiVAR_074573150A → T in MCT8 deficiency; impaired homodimerization. 1 PublicationCorresponds to variant rs373279555dbSNPEnsembl.1
Natural variantiVAR_022348150A → V in MCT8 deficiency; does not affect homodimerization activity. 3 PublicationsCorresponds to variant rs104894936dbSNPEnsembl.1
Natural variantiVAR_059055156Missing in MCT8 deficiency; increased homodimerization activity. 2 Publications1
Natural variantiVAR_059056161V → M in MCT8 deficiency; increased homodimerization activity. 2 Publications1
Natural variantiVAR_074574197R → H in MCT8 deficiency; does not affect homodimerization activity. 1 PublicationCorresponds to variant rs727504155dbSNPEnsembl.1
Natural variantiVAR_074575208G → C in MCT8 deficiency; impaired thyroid hormone transporter activity; impaired localization to the cell membrane. 1 Publication1
Natural variantiVAR_075145216S → F in MCT8 deficiency; decreased thyroid hormone transport; decreased protein abundance; no effect on localization to the plasma membrane. 1 PublicationCorresponds to variant rs398124232dbSNPEnsembl.1
Natural variantiVAR_074576247P → L in MCT8 deficiency; impaired thyroid hormone transporter activity; does not affect localization to the cell membrane. 1 Publication1
Natural variantiVAR_059057360L → W in MCT8 deficiency; impaired homodimerization. 2 PublicationsCorresponds to variant rs104894939dbSNPEnsembl.1
Natural variantiVAR_074577371R → C in MCT8 deficiency; impaired homodimerization. 1 PublicationCorresponds to variant rs587784384dbSNPEnsembl.1
Natural variantiVAR_074578379D → V in MCT8 deficiency; impaired thyroid hormone transporter activity; does not affect localization to the cell membrane. 1 Publication1
Natural variantiVAR_022349397L → P in MCT8 deficiency; does not affect homodimerization activity. 2 PublicationsCorresponds to variant rs122455132dbSNPEnsembl.1
Natural variantiVAR_059058427Missing in MCT8 deficiency. 1 Publication1
Natural variantiVAR_022350438L → P in MCT8 deficiency; does not affect homodimerization activity. 2 PublicationsCorresponds to variant rs104894931dbSNPEnsembl.1
Natural variantiVAR_074579463P → L in MCT8 deficiency; impaired thyroid hormone transporter activity; does not affect localization to the cell membrane. 1 Publication1
Natural variantiVAR_074580484G → D in MCT8 deficiency; does not affect homodimerization activity; impaired thyroid hormone transporter activity; impaired localization to the cell membrane. 2 Publications1
Natural variantiVAR_059059490G → R in MCT8 deficiency. 1 PublicationCorresponds to variant rs794727799dbSNPEnsembl.1
Natural variantiVAR_059060494L → P in MCT8 deficiency; does not affect homodimerization activity. 2 PublicationsCorresponds to variant rs104894938dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi118H → A: Reduction of thyroid hormone (TH) transport. 1 Publication1
Mutagenesisi186H → A: No effect on thyroid hormone (TH) transport. 1 Publication1
Mutagenesisi216S → A: No effect on thyroid hormone transport. No effect on protein abundance. No effect on protein localization to the plasma membrane. 1 Publication1
Mutagenesisi376H → A: No effect on thyroid hormone (TH) transport. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6567.
MalaCardsiSLC16A2.
MIMi300523. phenotype.
OpenTargetsiENSG00000147100.
Orphaneti59. Allan-Herndon-Dudley syndrome.
PharmGKBiPA35814.

Chemistry databases

DrugBankiDB00149. L-Leucine.
DB00150. L-Tryptophan.
DB00135. L-Tyrosine.
DB00451. Levothyroxine.
DB01583. Liotrix.
DB00119. Pyruvic acid.

Polymorphism and mutation databases

BioMutaiSLC16A2.
DMDMi114152841.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002114012 – 539Monocarboxylate transporter 8Add BLAST538

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP36021.
MaxQBiP36021.
PaxDbiP36021.
PeptideAtlasiP36021.
PRIDEiP36021.

PTM databases

iPTMnetiP36021.
PhosphoSitePlusiP36021.

Expressioni

Tissue specificityi

Highly expressed in liver and heart.1 Publication

Gene expression databases

BgeeiENSG00000147100.
CleanExiHS_SLC16A2.
ExpressionAtlasiP36021. baseline and differential.
GenevisibleiP36021. HS.

Organism-specific databases

HPAiCAB021892.

Interactioni

Subunit structurei

Homodimer.2 Publications

Protein-protein interaction databases

BioGridi112455. 4 interactors.
STRINGi9606.ENSP00000276033.

Structurei

3D structure databases

ProteinModelPortaliP36021.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IMVZ. Eukaryota.
ENOG410Z4JM. LUCA.
GeneTreeiENSGT00740000115479.
HOVERGENiHBG006387.
InParanoidiP36021.
KOiK08231.
OMAiIKQTWVL.
OrthoDBiEOG091G0449.
PhylomeDBiP36021.
TreeFamiTF313792.

Family and domain databases

CDDicd06174. MFS. 1 hit.
InterProiIPR030761. MCT8.
IPR011701. MFS.
IPR020846. MFS_dom.
[Graphical view]
PANTHERiPTHR11360:SF123. PTHR11360:SF123. 1 hit.
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 1 hit.
PROSITEiPS50850. MFS. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P36021-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MALQSQASEE AKGPWQEADQ EQQEPVGSPE PESEPEPEPE PEPVPVPPPE
60 70 80 90 100
PQPEPQPLPD PAPLPELEFE SERVHEPEPT PTVETRGTAR GFQPPEGGFG
110 120 130 140 150
WVVVFAATWC NGSIFGIHNS VGILYSMLLE EEKEKNRQVE FQAAWVGALA
160 170 180 190 200
MGMIFFCSPI VSIFTDRLGC RITATAGAAV AFIGLHTSSF TSSLSLRYFT
210 220 230 240 250
YGILFGCGCS FAFQPSLVIL GHYFQRRLGL ANGVVSAGSS IFSMSFPFLI
260 270 280 290 300
RMLGDKIKLA QTFQVLSTFM FVLMLLSLTY RPLLPSSQDT PSKRGVRTLH
310 320 330 340 350
QRFLAQLRKY FNMRVFRQRT YRIWAFGIAA AALGYFVPYV HLMKYVEEEF
360 370 380 390 400
SEIKETWVLL VCIGATSGLG RLVSGHISDS IPGLKKIYLQ VLSFLLLGLM
410 420 430 440 450
SMMIPLCRDF GGLIVVCLFL GLCDGFFITI MAPIAFELVG PMQASQAIGY
460 470 480 490 500
LLGMMALPMI AGPPIAGLLR NCFGDYHVAF YFAGVPPIIG AVILFFVPLM
510 520 530
HQRMFKKEQR DSSKDKMLAP DPDPNGELLP GSPNPEEPI
Length:539
Mass (Da):59,511
Last modified:September 5, 2006 - v2
Checksum:iE4DB873D59FA4DD6
GO

Sequence cautioni

The sequence AAB60374 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAB60375 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_059054120S → F in MCT8 deficiency; impaired homodimerization. 2 PublicationsCorresponds to variant rs113994162dbSNPEnsembl.1
Natural variantiVAR_074572147G → R in MCT8 deficiency; impaired thyroid hormone transporter activity; does not affect localization to the cell membrane. 1 Publication1
Natural variantiVAR_074573150A → T in MCT8 deficiency; impaired homodimerization. 1 PublicationCorresponds to variant rs373279555dbSNPEnsembl.1
Natural variantiVAR_022348150A → V in MCT8 deficiency; does not affect homodimerization activity. 3 PublicationsCorresponds to variant rs104894936dbSNPEnsembl.1
Natural variantiVAR_059055156Missing in MCT8 deficiency; increased homodimerization activity. 2 Publications1
Natural variantiVAR_059056161V → M in MCT8 deficiency; increased homodimerization activity. 2 Publications1
Natural variantiVAR_074574197R → H in MCT8 deficiency; does not affect homodimerization activity. 1 PublicationCorresponds to variant rs727504155dbSNPEnsembl.1
Natural variantiVAR_074575208G → C in MCT8 deficiency; impaired thyroid hormone transporter activity; impaired localization to the cell membrane. 1 Publication1
Natural variantiVAR_075145216S → F in MCT8 deficiency; decreased thyroid hormone transport; decreased protein abundance; no effect on localization to the plasma membrane. 1 PublicationCorresponds to variant rs398124232dbSNPEnsembl.1
Natural variantiVAR_074576247P → L in MCT8 deficiency; impaired thyroid hormone transporter activity; does not affect localization to the cell membrane. 1 Publication1
Natural variantiVAR_057723323I → L.Corresponds to variant rs12849411dbSNPEnsembl.1
Natural variantiVAR_059057360L → W in MCT8 deficiency; impaired homodimerization. 2 PublicationsCorresponds to variant rs104894939dbSNPEnsembl.1
Natural variantiVAR_074577371R → C in MCT8 deficiency; impaired homodimerization. 1 PublicationCorresponds to variant rs587784384dbSNPEnsembl.1
Natural variantiVAR_074578379D → V in MCT8 deficiency; impaired thyroid hormone transporter activity; does not affect localization to the cell membrane. 1 Publication1
Natural variantiVAR_022349397L → P in MCT8 deficiency; does not affect homodimerization activity. 2 PublicationsCorresponds to variant rs122455132dbSNPEnsembl.1
Natural variantiVAR_059058427Missing in MCT8 deficiency. 1 Publication1
Natural variantiVAR_022350438L → P in MCT8 deficiency; does not affect homodimerization activity. 2 PublicationsCorresponds to variant rs104894931dbSNPEnsembl.1
Natural variantiVAR_074579463P → L in MCT8 deficiency; impaired thyroid hormone transporter activity; does not affect localization to the cell membrane. 1 Publication1
Natural variantiVAR_074580484G → D in MCT8 deficiency; does not affect homodimerization activity; impaired thyroid hormone transporter activity; impaired localization to the cell membrane. 2 Publications1
Natural variantiVAR_059059490G → R in MCT8 deficiency. 1 PublicationCorresponds to variant rs794727799dbSNPEnsembl.1
Natural variantiVAR_059060494L → P in MCT8 deficiency; does not affect homodimerization activity. 2 PublicationsCorresponds to variant rs104894938dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U05321
, U05316, U05317, U05318, U05319, U05320 Genomic DNA. Translation: AAB60375.1. Sequence problems.
U05315 mRNA. Translation: AAB60374.1. Different initiation.
AB085789 mRNA. Translation: BAC76827.1.
AC004073 Genomic DNA. No translation available.
AL157934 Genomic DNA. No translation available.
CCDSiCCDS14426.2.
PIRiI39295.
RefSeqiNP_006508.2. NM_006517.4.
UniGeneiHs.75317.

Genome annotation databases

EnsembliENST00000587091; ENSP00000465734; ENSG00000147100.
GeneIDi6567.
KEGGihsa:6567.
UCSCiuc031tjy.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U05321
, U05316, U05317, U05318, U05319, U05320 Genomic DNA. Translation: AAB60375.1. Sequence problems.
U05315 mRNA. Translation: AAB60374.1. Different initiation.
AB085789 mRNA. Translation: BAC76827.1.
AC004073 Genomic DNA. No translation available.
AL157934 Genomic DNA. No translation available.
CCDSiCCDS14426.2.
PIRiI39295.
RefSeqiNP_006508.2. NM_006517.4.
UniGeneiHs.75317.

3D structure databases

ProteinModelPortaliP36021.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112455. 4 interactors.
STRINGi9606.ENSP00000276033.

Chemistry databases

DrugBankiDB00149. L-Leucine.
DB00150. L-Tryptophan.
DB00135. L-Tyrosine.
DB00451. Levothyroxine.
DB01583. Liotrix.
DB00119. Pyruvic acid.

Protein family/group databases

TCDBi2.A.1.13.10. the major facilitator superfamily (mfs).

PTM databases

iPTMnetiP36021.
PhosphoSitePlusiP36021.

Polymorphism and mutation databases

BioMutaiSLC16A2.
DMDMi114152841.

Proteomic databases

EPDiP36021.
MaxQBiP36021.
PaxDbiP36021.
PeptideAtlasiP36021.
PRIDEiP36021.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000587091; ENSP00000465734; ENSG00000147100.
GeneIDi6567.
KEGGihsa:6567.
UCSCiuc031tjy.2. human.

Organism-specific databases

CTDi6567.
DisGeNETi6567.
GeneCardsiSLC16A2.
GeneReviewsiSLC16A2.
H-InvDBHIX0056105.
HGNCiHGNC:10923. SLC16A2.
HPAiCAB021892.
MalaCardsiSLC16A2.
MIMi300095. gene.
300523. phenotype.
neXtProtiNX_P36021.
OpenTargetsiENSG00000147100.
Orphaneti59. Allan-Herndon-Dudley syndrome.
PharmGKBiPA35814.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IMVZ. Eukaryota.
ENOG410Z4JM. LUCA.
GeneTreeiENSGT00740000115479.
HOVERGENiHBG006387.
InParanoidiP36021.
KOiK08231.
OMAiIKQTWVL.
OrthoDBiEOG091G0449.
PhylomeDBiP36021.
TreeFamiTF313792.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000147100-MONOMER.
ReactomeiR-HSA-879518. Transport of organic anions.

Miscellaneous databases

ChiTaRSiSLC16A2. human.
GeneWikiiSLC16A2.
GenomeRNAii6567.
PROiP36021.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000147100.
CleanExiHS_SLC16A2.
ExpressionAtlasiP36021. baseline and differential.
GenevisibleiP36021. HS.

Family and domain databases

CDDicd06174. MFS. 1 hit.
InterProiIPR030761. MCT8.
IPR011701. MFS.
IPR020846. MFS_dom.
[Graphical view]
PANTHERiPTHR11360:SF123. PTHR11360:SF123. 1 hit.
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 1 hit.
PROSITEiPS50850. MFS. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMOT8_HUMAN
AccessioniPrimary (citable) accession number: P36021
Secondary accession number(s): Q7Z797
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: September 5, 2006
Last modified: November 30, 2016
This is version 134 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

Abnormal brain development associated with MCT8 deficiency may be the consequence of either decreased or increased intracellular T3 concentrations.1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.