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UniProtKB - P36021 (MOT8_HUMAN)

Entry version 152 (31 Jul 2019)
Sequence version 2 (05 Sep 2006)
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Protein

Monocarboxylate transporter 8

Gene

SLC16A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

Miscellaneous

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processSymport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-879518 Transport of organic anions

Protein family/group databases

Transport Classification Database

More...TCDBi		2.A.1.13.10 the major facilitator superfamily (mfs)

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC16A2
Synonyms:MCT8, XPCT
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:10923 SLC16A2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300095 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P36021

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini2 – 96CytoplasmicSequence analysisAdd BLAST95
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Monocarboxylate transporter 8 deficiency (MCT8 deficiency)10 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_059054120S → F in MCT8 deficiency; impaired homodimerization. 2 PublicationsCorresponds to variant dbSNP:rs113994162EnsemblClinVar.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 dbSNP:rs373279555Ensembl.1
Natural variantiVAR_022348150A → V in MCT8 deficiency; does not affect homodimerization activity. 3 PublicationsCorresponds to variant dbSNP:rs104894936EnsemblClinVar.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. 2 PublicationsCorresponds to variant dbSNP:rs727504155EnsemblClinVar.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; decreased localization to the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs398124232EnsemblClinVar.1
Natural variantiVAR_078497217L → R in MCT8 deficiency; atypical form; characterized by developmental delay hypotonia and delayed myelination. 1 Publication1
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 dbSNP:rs104894939EnsemblClinVar.1
Natural variantiVAR_074577371R → C in MCT8 deficiency; impaired homodimerization. 1 PublicationCorresponds to variant dbSNP:rs587784384EnsemblClinVar.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 dbSNP:rs122455132EnsemblClinVar.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 dbSNP:rs104894931EnsemblClinVar.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_078498490G → E in MCT8 deficiency; results in a mild clinical phenotype; retains some residual thyroid hormone transporter activity. 1 Publication1
Natural variantiVAR_059059490G → R in MCT8 deficiency; loss of thyroid hormone transport. 2 PublicationsCorresponds to variant dbSNP:rs794727799EnsemblClinVar.1
Natural variantiVAR_059060494L → P in MCT8 deficiency; does not affect homodimerization activity. 2 PublicationsCorresponds to variant dbSNP:rs104894938EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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
Mutagenesisi490G → A: No effect on thyroid hormone (TH) transport. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		6567

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		SLC16A2

MalaCards human disease database

More...MalaCardsi		SLC16A2
MIMi300523 phenotype

Open Targets

More...OpenTargetsi		ENSG00000147100

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		59 Allan-Herndon-Dudley syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35814

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00149 L-Leucine
DB00150 L-Tryptophan
DB00135 L-Tyrosine
DB00451 Levothyroxine
DB01583 Liotrix
DB00119 Pyruvic acid

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SLC16A2

Domain mapping of disease mutations (DMDM)

More...DMDMi		114152841

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002114012 – 539Monocarboxylate transporter 8Add BLAST538

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P36021

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P36021

MaxQB - The MaxQuant DataBase

More...MaxQBi		P36021

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P36021

PeptideAtlas

More...PeptideAtlasi		P36021

PRoteomics IDEntifications database

More...PRIDEi		P36021

ProteomicsDB human proteome resource

More...ProteomicsDBi		55173

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P36021

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P36021

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in liver and heart.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000147100 Expressed in 148 organ(s), highest expression level in right adrenal gland

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P36021 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P36021 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA072719

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		112455, 4 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000465734

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IMVZ Eukaryota
ENOG410Z4JM LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159450

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P36021

KEGG Orthology (KO)

More...KOi		K08231

Identification of Orthologs from Complete Genome Data

More...OMAi		YTDVETH

Database of Orthologous Groups

More...OrthoDBi		916876at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P36021

TreeFam database of animal gene trees

More...TreeFami		TF313792

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR030761 MCT8
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf

The PANTHER Classification System

More...PANTHERi		PTHR11360:SF123 PTHR11360:SF123, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07690 MFS_1, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF103473 SSF103473, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50850 MFS, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE4DB873D59FA4DD6
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ELT4K7ELT4_HUMAN
Monocarboxylate transporter 8
SLC16A2
229Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVB4A0A1B0GVB4_HUMAN
Monocarboxylate transporter 8
SLC16A2
69Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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 dbSNP:rs113994162EnsemblClinVar.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 dbSNP:rs373279555Ensembl.1
Natural variantiVAR_022348150A → V in MCT8 deficiency; does not affect homodimerization activity. 3 PublicationsCorresponds to variant dbSNP:rs104894936EnsemblClinVar.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. 2 PublicationsCorresponds to variant dbSNP:rs727504155EnsemblClinVar.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; decreased localization to the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs398124232EnsemblClinVar.1
Natural variantiVAR_078497217L → R in MCT8 deficiency; atypical form; characterized by developmental delay hypotonia and delayed myelination. 1 Publication1
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 dbSNP:rs12849411Ensembl.1
Natural variantiVAR_059057360L → W in MCT8 deficiency; impaired homodimerization. 2 PublicationsCorresponds to variant dbSNP:rs104894939EnsemblClinVar.1
Natural variantiVAR_074577371R → C in MCT8 deficiency; impaired homodimerization. 1 PublicationCorresponds to variant dbSNP:rs587784384EnsemblClinVar.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 dbSNP:rs122455132EnsemblClinVar.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 dbSNP:rs104894931EnsemblClinVar.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_078498490G → E in MCT8 deficiency; results in a mild clinical phenotype; retains some residual thyroid hormone transporter activity. 1 Publication1
Natural variantiVAR_059059490G → R in MCT8 deficiency; loss of thyroid hormone transport. 2 PublicationsCorresponds to variant dbSNP:rs794727799EnsemblClinVar.1
Natural variantiVAR_059060494L → P in MCT8 deficiency; does not affect homodimerization activity. 2 PublicationsCorresponds to variant dbSNP:rs104894938EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14426.2

Protein sequence database of the Protein Information Resource

More...PIRi		I39295

NCBI Reference Sequences

More...RefSeqi		NP_006508.2, NM_006517.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000587091; ENSP00000465734; ENSG00000147100

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6567

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6567

UCSC genome browser

More...UCSCi		uc031tjy.2 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi112455, 4 interactors
STRINGi9606.ENSP00000465734

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
jPOSTiP36021
MaxQBiP36021
PaxDbiP36021
PeptideAtlasiP36021
PRIDEiP36021
ProteomicsDBi55173

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6567
DisGeNETi6567

GeneCards: human genes, protein and diseases

More...GeneCardsi		SLC16A2
GeneReviewsiSLC16A2
HGNCiHGNC:10923 SLC16A2
HPAiHPA072719
MalaCardsiSLC16A2
MIMi300095 gene
300523 phenotype
neXtProtiNX_P36021
OpenTargetsiENSG00000147100
Orphaneti59 Allan-Herndon-Dudley syndrome
PharmGKBiPA35814

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IMVZ Eukaryota
ENOG410Z4JM LUCA
GeneTreeiENSGT00940000159450
InParanoidiP36021
KOiK08231
OMAiYTDVETH
OrthoDBi916876at2759
PhylomeDBiP36021
TreeFamiTF313792

Enzyme and pathway databases

ReactomeiR-HSA-879518 Transport of organic anions

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SLC16A2 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SLC16A2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		6567

Protein Ontology

More...PROi		PR:P36021

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000147100 Expressed in 148 organ(s), highest expression level in right adrenal gland
ExpressionAtlasiP36021 baseline and differential
GenevisibleiP36021 HS

Family and domain databases

InterProiView protein in InterPro
IPR030761 MCT8
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf
PANTHERiPTHR11360:SF123 PTHR11360:SF123, 1 hit
PfamiView protein in Pfam
PF07690 MFS_1, 1 hit
SUPFAMiSSF103473 SSF103473, 1 hit
PROSITEiView protein in PROSITE
PS50850 MFS, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMOT8_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P36021
Secondary accession number(s): Q7Z797
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: September 5, 2006
Last modified: July 31, 2019
This is version 152 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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