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Protein

Type I iodothyronine deiodinase

Gene

DIO1

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

Functioni

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 activityi

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei1261

GO - Molecular functioni

  • selenium binding Source: ProtInc
  • thyroxine 5'-deiodinase activity Source: Reactome

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Thyroid hormones biosynthesis

Enzyme and pathway databases

BioCyciZFISH:HS11580-MONOMER.
BRENDAi1.97.1.10. 2681.
ReactomeiR-HSA-350864. Regulation of thyroid hormone activity.
SABIO-RKP49895.

Names & Taxonomyi

Protein namesi
Recommended name:
Type I iodothyronine deiodinase (EC:1.21.99.4)
Alternative name(s):
5DI
DIOI
Type 1 DI
Type-I 5'-deiodinase
Gene namesi
Name:DIO1
Synonyms:ITDI1, TXDI1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:2883. DIO1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei13 – 33HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi1733.
MIMi147892. gene+phenotype.
OpenTargetsiENSG00000211452.
PharmGKBiPA27337.

Chemistry databases

ChEMBLiCHEMBL2019.

Polymorphism and mutation databases

BioMutaiDIO1.
DMDMi182702125.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001543111 – 249Type I iodothyronine deiodinaseAdd BLAST249

Proteomic databases

PaxDbiP49895.
PeptideAtlasiP49895.
PRIDEiP49895.

PTM databases

iPTMnetiP49895.
PhosphoSitePlusiP49895.

Expressioni

Gene expression databases

BgeeiENSG00000211452.
ExpressionAtlasiP49895. baseline and differential.
GenevisibleiP49895. HS.

Organism-specific databases

HPAiHPA066618.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000354643.

Structurei

3D structure databases

ProteinModelPortaliP49895.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the iodothyronine deiodinase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IWHX. Eukaryota.
ENOG4112999. LUCA.
GeneTreeiENSGT00820000127068.
HOVERGENiHBG000099.
InParanoidiP49895.
KOiK01562.
OMAiNWVPTFF.
OrthoDBiEOG091G0V5C.
PhylomeDBiP49895.
TreeFamiTF329721.

Family and domain databases

Gene3Di3.40.30.10. 1 hit.
InterProiIPR000643. Iodothyronine_deiodinase.
IPR008261. Iodothyronine_deiodinase_AS.
IPR027252. Iodothyronine_deiodinase_I/III.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PANTHERiPTHR11781. PTHR11781. 1 hit.
PfamiPF00837. T4_deiodinase. 1 hit.
[Graphical view]
PIRSFiPIRSF001330. IOD. 1 hit.
PIRSF500144. IODI_III. 1 hit.
SUPFAMiSSF52833. SSF52833. 1 hit.
PROSITEiPS01205. T4_DEIODINASE. 1 hit.
[Graphical view]

Sequences (9)i

Sequence statusi: Complete.

This entry describes 9 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P49895-1) [UniParc]FASTAAdd to basket
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.

« Hide

        10         20         30         40         50
MGLPQPGLWL KRLWVLLEVA VHVVVGKVLL ILFPDRVKRN ILAMGEKTGM
60 70 80 90 100
TRNPHFSHDN WIPTFFSTQY FWFVLKVRWQ RLEDTTELGG LAPNCPVVRL
110 120 130 140 150
SGQRCNIWEF MQGNRPLVLN FGSCTUPSFM FKFDQFKRLI EDFSSIADFL
160 170 180 190 200
VIYIEEAHAS DGWAFKNNMD IRNHQNLQDR LQAAHLLLAR SPQCPVVVDT
210 220 230 240
MQNQSSQLYA ALPERLYIIQ EGRILYKGKS GPWNYNPEEV RAVLEKLHS
Length:249
Mass (Da):28,924
Last modified:February 26, 2008 - v3
Checksum:i2D8BBFBA54B5A927
GO
Isoform 2 (identifier: P49895-2) [UniParc]FASTAAdd to basket
Also known as: b

The sequence of this isoform differs from the canonical sequence as follows:
     50-113: Missing.

Show »
Length:185
Mass (Da):21,252
Checksum:i91E53DDDFC99E838
GO
Isoform 3 (identifier: P49895-3) [UniParc]FASTAAdd to basket
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.
Show »
Length:109
Mass (Da):12,581
Checksum:i11293D50D43993E9
GO
Isoform 4 (identifier: P49895-4) [UniParc]FASTAAdd to basket
Also known as: d

The sequence of this isoform differs from the canonical sequence as follows:
     113-160: Missing.

Show »
Length:201
Mass (Da):23,390
Checksum:i04CBA7E9DFCC49FF
GO
Isoform 5 (identifier: P49895-5) [UniParc]FASTAAdd to basket
Also known as: e

The sequence of this isoform differs from the canonical sequence as follows:
     161-161: D → G
     162-249: Missing.

Show »
Length:161
Mass (Da):18,712
Checksum:i925FC41D8C359953
GO
Isoform 6 (identifier: P49895-6) [UniParc]FASTAAdd to basket
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.
Show »
Length:40
Mass (Da):4,292
Checksum:i0C907B0BF69B85FE
GO
Isoform 7 (identifier: P49895-7) [UniParc]FASTAAdd to basket
Also known as: l

The sequence of this isoform differs from the canonical sequence as follows:
     114-249: Missing.

Show »
Length:113
Mass (Da):13,178
Checksum:i4C437DDA41E76153
GO
Isoform 8 (identifier: P49895-8) [UniParc]FASTAAdd to basket
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.
Show »
Length:85
Mass (Da):9,270
Checksum:i3885B86A586951FC
GO
Isoform 9 (identifier: P49895-9) [UniParc]FASTAAdd to basket
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.
Show »
Length:89
Mass (Da):9,774
Checksum:i131E31116885B86A
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01277226 – 40GKVLL…RVKRN → APSISGSSURSVGSD in isoform 6. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_01277341 – 249Missing in isoform 6. 1 PublicationAdd BLAST209
Alternative sequenceiVSP_01277450 – 113Missing in isoform 2. 1 PublicationAdd BLAST64
Alternative sequenceiVSP_01277950 – 89MTRNP…TTELG → PLAATRGHDUARGSGPKLPG GPPLRTEVQHLGVYARWLGF in isoform 9. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_01277550 – 85MTRNP…RLEDT → PLAATRGHDUARGSGPKLPG GPPLRTEVQHLGVYAR in isoform 8. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_01277778 – 109RWQRL…CNIWE → IGHWCUILEVVPDLHLCSNL TSSRGLLKTLVP in isoform 3. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_01277686 – 249Missing in isoform 8. 1 PublicationAdd BLAST164
Alternative sequenceiVSP_01278090 – 249Missing in isoform 9. 1 PublicationAdd BLAST160
Alternative sequenceiVSP_012778110 – 249Missing in isoform 3. 1 PublicationAdd BLAST140
Alternative sequenceiVSP_012781113 – 160Missing in isoform 4. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_012782114 – 249Missing in isoform 7. 1 PublicationAdd BLAST136
Alternative sequenceiVSP_012783161D → G in isoform 5. 2 Publications1
Alternative sequenceiVSP_012784162 – 249Missing in isoform 5. 2 PublicationsAdd BLAST88

Non-standard residue

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Non-standard residuei126Selenocysteine1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS30722.1. [P49895-4]
CCDS41339.1. [P49895-1]
CCDS41340.1. [P49895-5]
CCDS53320.1. [P49895-2]
CCDS81328.1. [P49895-7]
RefSeqiNP_000783.2. NM_000792.6. [P49895-1]
NP_001034804.1. NM_001039715.2. [P49895-4]
NP_001034805.1. NM_001039716.2. [P49895-5]
NP_001311245.1. NM_001324316.1. [P49895-7]
NP_998758.1. NM_213593.4. [P49895-2]
UniGeneiHs.251415.

Genome annotation databases

EnsembliENST00000322679; ENSP00000323198; ENSG00000211452. [P49895-5]
ENST00000361921; ENSP00000354643; ENSG00000211452. [P49895-1]
ENST00000388876; ENSP00000373528; ENSG00000211452. [P49895-4]
ENST00000525202; ENSP00000435725; ENSG00000211452. [P49895-2]
ENST00000532493; ENSP00000434758; ENSG00000211452. [P49895-7]
GeneIDi1733.
KEGGihsa:1733.
UCSCiuc001cwb.4. human. [P49895-1]

Keywords - Coding sequence diversityi

Alternative splicing, Selenocysteine

Cross-referencesi

Web resourcesi

Wikipedia

Deiodinase entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS30722.1. [P49895-4]
CCDS41339.1. [P49895-1]
CCDS41340.1. [P49895-5]
CCDS53320.1. [P49895-2]
CCDS81328.1. [P49895-7]
RefSeqiNP_000783.2. NM_000792.6. [P49895-1]
NP_001034804.1. NM_001039715.2. [P49895-4]
NP_001034805.1. NM_001039716.2. [P49895-5]
NP_001311245.1. NM_001324316.1. [P49895-7]
NP_998758.1. NM_213593.4. [P49895-2]
UniGeneiHs.251415.

3D structure databases

ProteinModelPortaliP49895.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000354643.

Chemistry databases

ChEMBLiCHEMBL2019.

PTM databases

iPTMnetiP49895.
PhosphoSitePlusiP49895.

Polymorphism and mutation databases

BioMutaiDIO1.
DMDMi182702125.

Proteomic databases

PaxDbiP49895.
PeptideAtlasiP49895.
PRIDEiP49895.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000322679; ENSP00000323198; ENSG00000211452. [P49895-5]
ENST00000361921; ENSP00000354643; ENSG00000211452. [P49895-1]
ENST00000388876; ENSP00000373528; ENSG00000211452. [P49895-4]
ENST00000525202; ENSP00000435725; ENSG00000211452. [P49895-2]
ENST00000532493; ENSP00000434758; ENSG00000211452. [P49895-7]
GeneIDi1733.
KEGGihsa:1733.
UCSCiuc001cwb.4. human. [P49895-1]

Organism-specific databases

CTDi1733.
DisGeNETi1733.
GeneCardsiDIO1.
HGNCiHGNC:2883. DIO1.
HPAiHPA066618.
MIMi147892. gene+phenotype.
neXtProtiNX_P49895.
OpenTargetsiENSG00000211452.
PharmGKBiPA27337.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IWHX. Eukaryota.
ENOG4112999. LUCA.
GeneTreeiENSGT00820000127068.
HOVERGENiHBG000099.
InParanoidiP49895.
KOiK01562.
OMAiNWVPTFF.
OrthoDBiEOG091G0V5C.
PhylomeDBiP49895.
TreeFamiTF329721.

Enzyme and pathway databases

BioCyciZFISH:HS11580-MONOMER.
BRENDAi1.97.1.10. 2681.
ReactomeiR-HSA-350864. Regulation of thyroid hormone activity.
SABIO-RKP49895.

Miscellaneous databases

ChiTaRSiDIO1. human.
GenomeRNAii1733.
PROiP49895.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000211452.
ExpressionAtlasiP49895. baseline and differential.
GenevisibleiP49895. HS.

Family and domain databases

Gene3Di3.40.30.10. 1 hit.
InterProiIPR000643. Iodothyronine_deiodinase.
IPR008261. Iodothyronine_deiodinase_AS.
IPR027252. Iodothyronine_deiodinase_I/III.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PANTHERiPTHR11781. PTHR11781. 1 hit.
PfamiPF00837. T4_deiodinase. 1 hit.
[Graphical view]
PIRSFiPIRSF001330. IOD. 1 hit.
PIRSF500144. IODI_III. 1 hit.
SUPFAMiSSF52833. SSF52833. 1 hit.
PROSITEiPS01205. T4_DEIODINASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiIOD1_HUMAN
AccessioniPrimary (citable) accession number: P49895
Secondary accession number(s): Q1RN02
, Q3KNP8, Q6Q4C1, Q6Q4C2, Q6Q4C3, Q6Q4C4, Q6Q4C5, Q6Q4C6, Q6Q4C7, Q6Q4C9, Q8WWC6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: February 26, 2008
Last modified: November 2, 2016
This is version 154 of the entry and version 3 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.