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P49895 (IOD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 134. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Type I iodothyronine deiodinase

EC=1.97.1.10
Alternative name(s):
5DI
DIOI
Type 1 DI
Type-I 5'-deiodinase
Gene names
Name:DIO1
Synonyms:ITDI1, TXDI1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length249 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Responsible for the deiodination of T4 (3,5,3',5'-tetraiodothyronine) into T3 (3,5,3'-triiodothyronine) and of T3 into T2 (3,3'-diiodothyronine). Plays a role in providing a source of plasma T3 by deiodination of T4 in peripheral tissues such as liver and kidney.

Catalytic activity

3,5,3'-triiodo-L-thyronine + iodide + A + H+ = L-thyroxine + AH2.

Subcellular location

Endoplasmic reticulum membrane; Single-pass membrane protein By similarity.

Sequence similarities

Belongs to the iodothyronine deiodinase family.

Alternative products

This entry describes 9 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P49895-1)

Also known as: a;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P49895-2)

Also known as: b;

The sequence of this isoform differs from the canonical sequence as follows:
     50-113: Missing.
Isoform 3 (identifier: P49895-3)

Also known as: c/f;

The sequence of this isoform differs from the canonical sequence as follows:
     78-109: RWQRLEDTTELGGLAPNCPVVRLSGQRCNIWE → IGHWCUILEVVPDLHLCSNLTSSRGLLKTLVP
     110-249: Missing.
Note: The UGA codon in position 83 may either function as a selenocysteine codon or a translation termination codon.
Isoform 4 (identifier: P49895-4)

Also known as: d;

The sequence of this isoform differs from the canonical sequence as follows:
     113-160: Missing.
Isoform 5 (identifier: P49895-5)

Also known as: e;

The sequence of this isoform differs from the canonical sequence as follows:
     161-161: D → G
     162-249: Missing.
Isoform 6 (identifier: P49895-6)

Also known as: k;

The sequence of this isoform differs from the canonical sequence as follows:
     26-40: GKVLLILFPDRVKRN → APSISGSSURSVGSD
     41-249: Missing.
Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. The UGA codon in position 34 may either function as a selenocysteine codon or a translation termination codon.
Isoform 7 (identifier: P49895-7)

Also known as: l;

The sequence of this isoform differs from the canonical sequence as follows:
     114-249: Missing.
Isoform 8 (identifier: P49895-8)

Also known as: m;

The sequence of this isoform differs from the canonical sequence as follows:
     50-85: MTRNPHFSHDNWIPTFFSTQYFWFVLKVRWQRLEDT → PLAATRGHDUARGSGPKLPGGPPLRTEVQHLGVYAR
     86-249: Missing.
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. The UGA codon in position 59 may either function as a selenocysteine codon or a translation termination codon.
Isoform 9 (identifier: P49895-9)

Also known as: s;

The sequence of this isoform differs from the canonical sequence as follows:
     50-89: MTRNPHFSHD...QRLEDTTELG → PLAATRGHDU...LGVYARWLGF
     90-249: Missing.
Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. The UGA codon in position 59 may either function as a selenocysteine codon or a translation termination codon.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 249249Type I iodothyronine deiodinase
PRO_0000154311

Regions

Transmembrane13 – 3321Helical; Potential

Sites

Active site1261

Amino acid modifications

Non-standard residue1261Selenocysteine

Natural variations

Alternative sequence26 – 4015GKVLL…RVKRN → APSISGSSURSVGSD in isoform 6.
VSP_012772
Alternative sequence41 – 249209Missing in isoform 6.
VSP_012773
Alternative sequence50 – 11364Missing in isoform 2.
VSP_012774
Alternative sequence50 – 8940MTRNP…TTELG → PLAATRGHDUARGSGPKLPG GPPLRTEVQHLGVYARWLGF in isoform 9.
VSP_012779
Alternative sequence50 – 8536MTRNP…RLEDT → PLAATRGHDUARGSGPKLPG GPPLRTEVQHLGVYAR in isoform 8.
VSP_012775
Alternative sequence78 – 10932RWQRL…CNIWE → IGHWCUILEVVPDLHLCSNL TSSRGLLKTLVP in isoform 3.
VSP_012777
Alternative sequence86 – 249164Missing in isoform 8.
VSP_012776
Alternative sequence90 – 249160Missing in isoform 9.
VSP_012780
Alternative sequence110 – 249140Missing in isoform 3.
VSP_012778
Alternative sequence113 – 16048Missing in isoform 4.
VSP_012781
Alternative sequence114 – 249136Missing in isoform 7.
VSP_012782
Alternative sequence1611D → G in isoform 5.
VSP_012783
Alternative sequence162 – 24988Missing in isoform 5.
VSP_012784

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (a) [UniParc].

Last modified February 26, 2008. Version 3.
Checksum: 2D8BBFBA54B5A927

FASTA24928,924
        10         20         30         40         50         60 
MGLPQPGLWL KRLWVLLEVA VHVVVGKVLL ILFPDRVKRN ILAMGEKTGM TRNPHFSHDN 

        70         80         90        100        110        120 
WIPTFFSTQY FWFVLKVRWQ RLEDTTELGG LAPNCPVVRL SGQRCNIWEF MQGNRPLVLN 

       130        140        150        160        170        180 
FGSCTUPSFM FKFDQFKRLI EDFSSIADFL VIYIEEAHAS DGWAFKNNMD IRNHQNLQDR 

       190        200        210        220        230        240 
LQAAHLLLAR SPQCPVVVDT MQNQSSQLYA ALPERLYIIQ EGRILYKGKS GPWNYNPEEV 


RAVLEKLHS 

« Hide

Isoform 2 (b) [UniParc].

Checksum: 91E53DDDFC99E838
Show »

FASTA18521,252
Isoform 3 (c/f) [UniParc].

Checksum: 11293D50D43993E9
Show »

FASTA10912,581
Isoform 4 (d) [UniParc].

Checksum: 04CBA7E9DFCC49FF
Show »

FASTA20123,390
Isoform 5 (e) [UniParc].

Checksum: 925FC41D8C359953
Show »

FASTA16118,712
Isoform 6 (k) [UniParc].

Checksum: 0C907B0BF69B85FE
Show »

FASTA404,292
Isoform 7 (l) [UniParc].

Checksum: 4C437DDA41E76153
Show »

FASTA11313,178
Isoform 8 (m) [UniParc].

Checksum: 3885B86A586951FC
Show »

FASTA859,270
Isoform 9 (s) [UniParc].

Checksum: 131E31116885B86A
Show »

FASTA899,774

References

« Hide 'large scale' references
[1]"Cloning and in vitro expression of the human selenoprotein, type I iodothyronine deiodinase."
Mandel S.J., Berry M.J., Kieffer J.D., Harney J.W., Warne R.L., Larsen P.R.
J. Clin. Endocrinol. Metab. 75:1133-1139(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Type I iodothyronine deiodinase splice variants in human liver."
Wassen F.J.W.S., Kuiper G.G.J.M., Visser T.J.
Submitted (FEB-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5; 6; 7; 8 AND 9).
Tissue: Liver.
[3]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5).
Tissue: Kidney.
[5]"A novel retinoid X receptor-independent thyroid hormone response element is present in the human type 1 deiodinase gene."
Toyoda N., Zavacki A.M., Maia A.L., Harney J.W., Larsen P.R.
Mol. Cell. Biol. 15:5100-5112(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-25.
+Additional computationally mapped references.

Web resources

Wikipedia

Deiodinase entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
S48220 mRNA. Translation: AAB23670.2.
AY560374 mRNA. Translation: AAT02480.1.
AY560375 mRNA. Translation: AAT02481.1.
AY560376 mRNA. Translation: AAT02482.1.
AY560377 mRNA. Translation: AAT02483.1.
AY560378 mRNA. Translation: AAT02484.1.
AY560379 mRNA. Translation: AAT02485.1.
AY560380 mRNA. Translation: AAT02486.1.
AY560381 mRNA. Translation: AAT02487.1.
AY560382 mRNA. Translation: AAT02488.1.
AY560383 mRNA. Translation: AAT02489.1.
AL031427 Genomic DNA. No translation available.
BC017955 mRNA. Translation: AAH17955.2.
BC107170 mRNA. Translation: AAI07171.1.
BC107171 mRNA. Translation: AAI07172.1.
S79349 Genomic DNA. Translation: AAB35380.2.
CCDSCCDS30722.1. [P49895-4]
CCDS41339.1. [P49895-1]
CCDS41340.1. [P49895-5]
CCDS53320.1. [P49895-2]
RefSeqNP_000783.2. NM_000792.5. [P49895-1]
NP_001034804.1. NM_001039715.1. [P49895-4]
NP_001034805.1. NM_001039716.1. [P49895-5]
NP_998758.1. NM_213593.3. [P49895-2]
UniGeneHs.251415.

3D structure databases

ProteinModelPortalP49895.
ModBaseSearch...
MobiDBSearch...

Chemistry

ChEMBLCHEMBL2019.

Polymorphism databases

DMDM182702125.

Proteomic databases

PaxDbP49895.
PRIDEP49895.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000322679; ENSP00000323198; ENSG00000211452. [P49895-5]
ENST00000361921; ENSP00000354643; ENSG00000211452. [P49895-1]
ENST00000388876; ENSP00000373528; ENSG00000211452. [P49895-4]
ENST00000525202; ENSP00000435725; ENSG00000211452. [P49895-2]
ENST00000532493; ENSP00000434758; ENSG00000211452. [P49895-7]
GeneID1733.
KEGGhsa:1733.
UCSCuc001cwb.3. human. [P49895-4]
uc009vzl.3. human. [P49895-7]
uc021onp.1. human. [P49895-2]
uc021onq.1. human. [P49895-1]
uc021onr.1. human. [P49895-5]

Organism-specific databases

CTD1733.
GeneCardsGC01P054359.
HGNCHGNC:2883. DIO1.
MIM147892. gene+phenotype.
neXtProtNX_P49895.
PharmGKBPA27337.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG67608.
HOVERGENHBG000099.
InParanoidP49895.
KOK01562.
OMARCNIWEF.
PhylomeDBP49895.
TreeFamTF329721.

Enzyme and pathway databases

BRENDA1.97.1.10. 2681.
ReactomeREACT_111217. Metabolism.
SABIO-RKP49895.

Gene expression databases

ArrayExpressP49895.
BgeeP49895.
GenevestigatorP49895.

Family and domain databases

Gene3D3.40.30.10. 1 hit.
InterProIPR000643. Iodothyronine_deiodinase.
IPR008261. Iodothyronine_deiodinase_AS.
IPR027252. Iodothyronine_deiodinase_I/III.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PANTHERPTHR11781. PTHR11781. 1 hit.
PfamPF00837. T4_deiodinase. 1 hit.
[Graphical view]
PIRSFPIRSF001330. IOD. 1 hit.
PIRSF500144. IODI_III. 1 hit.
SUPFAMSSF52833. SSF52833. 1 hit.
PROSITEPS01205. T4_DEIODINASE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi1733.
NextBio7017.
PROP49895.
SOURCESearch...

Entry information

Entry nameIOD1_HUMAN
AccessionPrimary (citable) accession number: P49895
Secondary accession number(s): Q1RN02 expand/collapse secondary AC list , Q3KNP8, Q6Q4C1, Q6Q4C2, Q6Q4C3, Q6Q4C4, Q6Q4C5, Q6Q4C6, Q6Q4C7, Q6Q4C9, Q8WWC6
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: February 26, 2008
Last modified: July 9, 2014
This is version 134 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human chromosome 1

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