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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 (By similarity).By similarity

GO - Molecular functioni

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

GO - Biological processi

  • ion transmembrane transport Source: GO_Central
  • monocarboxylic acid transport Source: ProtInc
  • thyroid hormone transport Source: GO_Central
  • transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Symport, Transport

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
ProteomesiUP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:10923. SLC16A2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini2 – 9695CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei97 – 11721HelicalSequence AnalysisAdd
BLAST
Topological domaini118 – 14326ExtracellularSequence AnalysisAdd
BLAST
Transmembranei144 – 16421HelicalSequence AnalysisAdd
BLAST
Topological domaini165 – 1717CytoplasmicSequence Analysis
Transmembranei172 – 19221HelicalSequence AnalysisAdd
BLAST
Topological domaini193 – 2008ExtracellularSequence Analysis
Transmembranei201 – 22121HelicalSequence AnalysisAdd
BLAST
Topological domaini222 – 2298CytoplasmicSequence Analysis
Transmembranei230 – 25021HelicalSequence AnalysisAdd
BLAST
Topological domaini251 – 2588ExtracellularSequence Analysis
Transmembranei259 – 27921HelicalSequence AnalysisAdd
BLAST
Topological domaini280 – 32243CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei323 – 34321HelicalSequence AnalysisAdd
BLAST
Topological domaini344 – 35613ExtracellularSequence AnalysisAdd
BLAST
Transmembranei357 – 37721HelicalSequence AnalysisAdd
BLAST
Topological domaini378 – 3869CytoplasmicSequence Analysis
Transmembranei387 – 40721HelicalSequence AnalysisAdd
BLAST
Topological domaini408 – 4092ExtracellularSequence Analysis
Transmembranei410 – 43021HelicalSequence AnalysisAdd
BLAST
Topological domaini431 – 44717CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei448 – 46821HelicalSequence AnalysisAdd
BLAST
Topological domaini469 – 4779ExtracellularSequence Analysis
Transmembranei478 – 49821HelicalSequence AnalysisAdd
BLAST
Topological domaini499 – 53941CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Monocarboxylate transporter 8 deficiency (MCT8 deficiency)5 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti120 – 1201S → F in MCT8 deficiency. 1 Publication
VAR_059054
Natural varianti150 – 1501A → V in MCT8 deficiency. 2 Publications
VAR_022348
Natural varianti156 – 1561Missing in MCT8 deficiency. 1 Publication
VAR_059055
Natural varianti161 – 1611V → M in MCT8 deficiency. 1 Publication
VAR_059056
Natural varianti360 – 3601L → W in MCT8 deficiency. 1 Publication
VAR_059057
Natural varianti397 – 3971L → P in MCT8 deficiency. 1 Publication
VAR_022349
Natural varianti427 – 4271Missing in MCT8 deficiency. 1 Publication
VAR_059058
Natural varianti438 – 4381L → P in MCT8 deficiency. 1 Publication
VAR_022350
Natural varianti490 – 4901G → R in MCT8 deficiency. 1 Publication
VAR_059059
Natural varianti494 – 4941L → P in MCT8 deficiency. 1 Publication
VAR_059060

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi118 – 1181H → A: Reduction of thyroid hormone (TH) transport. 1 Publication
Mutagenesisi186 – 1861H → A: No effect on thyroid hormone (TH) transport. 1 Publication
Mutagenesisi376 – 3761H → A: No effect on thyroid hormone (TH) transport. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi300523. phenotype.
Orphaneti59. Allan-Herndon-Dudley syndrome.
PharmGKBiPA35814.

Chemistry

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)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed2 Publications
Chaini2 – 539538Monocarboxylate transporter 8PRO_0000211401Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine2 Publications

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP36021.
PaxDbiP36021.
PRIDEiP36021.

PTM databases

PhosphoSiteiP36021.

Expressioni

Tissue specificityi

Highly expressed in liver and heart.

Gene expression databases

BgeeiP36021.
CleanExiHS_SLC16A2.
ExpressionAtlasiP36021. baseline and differential.
GenevestigatoriP36021.

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi112455. 5 interactions.
STRINGi9606.ENSP00000276033.

Structurei

3D structure databases

ProteinModelPortaliP36021.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG321880.
GeneTreeiENSGT00740000115479.
HOVERGENiHBG006387.
InParanoidiP36021.
KOiK08231.
OrthoDBiEOG7KWSH8.
PhylomeDBiP36021.
TreeFamiTF313792.

Family and domain databases

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 AAB60374.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAB60375.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti120 – 1201S → F in MCT8 deficiency. 1 Publication
VAR_059054
Natural varianti150 – 1501A → V in MCT8 deficiency. 2 Publications
VAR_022348
Natural varianti156 – 1561Missing in MCT8 deficiency. 1 Publication
VAR_059055
Natural varianti161 – 1611V → M in MCT8 deficiency. 1 Publication
VAR_059056
Natural varianti323 – 3231I → L.
Corresponds to variant rs12849411 [ dbSNP | Ensembl ].
VAR_057723
Natural varianti360 – 3601L → W in MCT8 deficiency. 1 Publication
VAR_059057
Natural varianti397 – 3971L → P in MCT8 deficiency. 1 Publication
VAR_022349
Natural varianti427 – 4271Missing in MCT8 deficiency. 1 Publication
VAR_059058
Natural varianti438 – 4381L → P in MCT8 deficiency. 1 Publication
VAR_022350
Natural varianti490 – 4901G → R in MCT8 deficiency. 1 Publication
VAR_059059
Natural varianti494 – 4941L → P in MCT8 deficiency. 1 Publication
VAR_059060

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.1. 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. 5 interactions.
STRINGi9606.ENSP00000276033.

Chemistry

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

PhosphoSiteiP36021.

Polymorphism and mutation databases

BioMutaiSLC16A2.
DMDMi114152841.

Proteomic databases

MaxQBiP36021.
PaxDbiP36021.
PRIDEiP36021.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000587091; ENSP00000465734; ENSG00000147100.
GeneIDi6567.
KEGGihsa:6567.
UCSCiuc031tjy.1. human.

Organism-specific databases

CTDi6567.
GeneCardsiGC0XP073640.
GeneReviewsiSLC16A2.
H-InvDBHIX0056105.
HGNCiHGNC:10923. SLC16A2.
MIMi300095. gene.
300523. phenotype.
neXtProtiNX_P36021.
Orphaneti59. Allan-Herndon-Dudley syndrome.
PharmGKBiPA35814.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG321880.
GeneTreeiENSGT00740000115479.
HOVERGENiHBG006387.
InParanoidiP36021.
KOiK08231.
OrthoDBiEOG7KWSH8.
PhylomeDBiP36021.
TreeFamiTF313792.

Miscellaneous databases

ChiTaRSiSLC16A2. human.
GeneWikiiSLC16A2.
GenomeRNAii6567.
NextBioi25551.
PROiP36021.
SOURCEiSearch...

Gene expression databases

BgeeiP36021.
CleanExiHS_SLC16A2.
ExpressionAtlasiP36021. baseline and differential.
GenevestigatoriP36021.

Family and domain databases

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...

Publicationsi

« Hide 'large scale' publications
  1. "A novel transmembrane transporter encoded by the XPCT gene in Xq13.2."
    Lafreniere R.G., Carrel L., Willard H.F.
    Hum. Mol. Genet. 3:1133-1140(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
  2. "X-linked PEST-containing transporter (XPCT) identified in the X-chromosome inactivation center is an acidic amino acid transporter which requires CD147 for its functional expression."
    Kim D., Kanai Y., Choi H., Shin H., Kim J., Teraoka H., Shigeta Y., Chairoungdua A., Babu E., Anzai N., Iribe Y., Endou H.
    Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  5. Cited for: SUBUNIT.
  6. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
    Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
    Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  7. "Importance of His192 in the human thyroid hormone transporter MCT8 for substrate recognition."
    Groeneweg S., Lima de Souza E.C., Visser W.E., Peeters R.P., Visser T.J.
    Endocrinology 154:2525-2532(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, MUTAGENESIS OF HIS-118; HIS-186 AND HIS-376.
  8. "Mutations in a thyroid hormone transporter in patients with severe psychomotor retardation and high serum T3 levels."
    Friesema E., Grueters A., Halestrap A., Reeser M., Visser T.
    Thyroid 13:672-672(2003)
    Cited for: VARIANT MCT8 DEFICIENCY VAL-150.
  9. "A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene."
    Dumitrescu A.M., Liao X.-H., Best T.B., Brockmann K., Refetoff S.
    Am. J. Hum. Genet. 74:168-175(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MCT8 DEFICIENCY PRO-438.
  10. Erratum
    Dumitrescu A.M., Liao X.-H., Best T.B., Brockmann K., Refetoff S.
    Am. J. Hum. Genet. 74:598-598(2004)
  11. Cited for: IDENTIFICATION OF START CODON.
  12. Cited for: VARIANTS MCT8 DEFICIENCY VAL-150 AND PRO-397.
  13. Cited for: VARIANTS MCT8 DEFICIENCY PHE-120; PHE-156 DEL; MET-161; TRP-360 AND PRO-494.
  14. Cited for: VARIANTS MCT8 DEFICIENCY PHE-427 DEL AND ARG-490, POSSIBLE PATHOGENIC MECHANISM OF BRAIN DEVELOPMENT.

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: May 27, 2015
This is version 119 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.

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

External Data

Dasty 3

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 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.