DIO1 (iodothyronine deiodinase 1) - Rat Genome Database

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Gene: DIO1 (iodothyronine deiodinase 1) Homo sapiens
Analyze
Symbol: DIO1
Name: iodothyronine deiodinase 1
RGD ID: 735269
HGNC Page HGNC
Description: Predicted to have thyroxine 5'-deiodinase activity. Involved in cellular amino acid metabolic process. Predicted to localize to plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 5DI; deiodinase, iodothyronine type I; deiodinase, iodothyronine, type I; DIOI; iodothyronine deiodinase type 1; MGC130050; MGC130051; selenoprotein DIO1; thyroxine 5'-deiodinase; thyroxine deiodinase type I (selenoprotein); TXDI1; type 1 DI; type I iodothyronine deiodinase; type-I 5'-deiodinase; type-I 5'deiodinase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl153,891,239 - 53,911,086 (+)EnsemblGRCh38hg38GRCh38
GRCh38153,894,187 - 53,911,086 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37154,359,860 - 54,376,759 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36154,132,449 - 54,149,347 (+)NCBINCBI36hg18NCBI36
Build 34154,071,881 - 54,088,779NCBI
Celera152,647,532 - 52,664,449 (+)NCBI
Cytogenetic Map1p32.3NCBI
HuRef152,475,576 - 52,492,483 (+)NCBIHuRef
CHM1_1154,476,232 - 54,493,132 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(R)-lipoic acid  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-benzothiazole-2-thiol  (EXP)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2,4-dinitrotoluene  (ISO)
2-Ethylhexyl acrylate  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5'-triiodo-L-thyronine  (EXP)
3,3',5'-triiodothyronine  (EXP)
3,3',5-triiodo-L-thyronine  (EXP,ISO)
3,3'-diiodothyronine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4,5-dichloro-2-n-octyl-3(2H)-isothiazolone  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (EXP,ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
alpha-linolenic acid  (EXP)
amiodarone  (EXP,ISO)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
atrazine  (ISO)
azathioprine  (EXP)
azinphos-methyl  (EXP)
belinostat  (EXP)
benzalkonium chloride  (EXP)
benzo[a]pyrene  (EXP)
benzo[b]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (EXP)
Bisphenol B  (ISO)
bisphenol F  (ISO)
butachlor  (EXP)
captafol  (EXP)
captan  (EXP,ISO)
carbon nanotube  (ISO)
chlordecone  (EXP)
chlorothalonil  (EXP)
chlorpyrifos  (ISO)
cholesterol  (ISO)
chromium(6+)  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
cyazofamid  (EXP)
cyclosporin A  (EXP)
daidzein  (ISO)
decabromodiphenyl ether  (EXP,ISO)
Diclosulam  (EXP)
dicofol  (EXP)
dicrotophos  (EXP)
diethyl hydrogen phosphate  (ISO)
diiodine  (ISO)
dinocap  (EXP)
elemental selenium  (ISO)
emamectin benzoate  (EXP)
entinostat  (EXP)
ethanol  (ISO)
fenthion  (EXP)
fipronil  (EXP,ISO)
fluazinam  (EXP)
folpet  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
genistein  (EXP,ISO)
glutathione  (ISO)
GW 4064  (ISO)
hexachlorobenzene  (ISO)
iodomethane  (ISO)
lead diacetate  (ISO)
linoleic acid  (EXP)
lipoic acid  (ISO)
maneb  (EXP)
masoprocol  (EXP)
methimazole  (EXP,ISO)
methoxychlor  (ISO)
methyltrioctylammonium chloride  (EXP)
metolachlor  (EXP)
morin  (EXP)
N,N-diethyl-m-toluamide  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
O-methyleugenol  (EXP)
octhilinone  (EXP)
oryzalin  (EXP)
oxytetracycline  (EXP)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
perfluorobutyric acid  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenformin  (ISO)
phenobarbital  (ISO)
phthalaldehyde  (EXP)
pirinixic acid  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP,ISO)
resveratrol  (ISO)
rifampicin  (EXP)
rotenone  (ISO)
selenium atom  (ISO)
silicon dioxide  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium perchlorate  (ISO)
streptozocin  (ISO)
sulfasalazine  (EXP)
tamoxifen  (ISO)
temephos  (EXP)
tetrachloromethane  (ISO)
thiacloprid  (ISO)
thioacetamide  (ISO)
thiophanate-methyl  (ISO)
thyroxine  (EXP,ISO)
titanium dioxide  (ISO)
triclosan  (EXP)
triflumizole  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vorinostat  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)
ziram  (ISO)
zoxamide  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1400883   PMID:7651427   PMID:7744884   PMID:8033262   PMID:8187873   PMID:8427198   PMID:8473826   PMID:8964838   PMID:9192862   PMID:9249039   PMID:9784399   PMID:11383912  
PMID:12153750   PMID:12477932   PMID:12586771   PMID:12775843   PMID:12847093   PMID:15028279   PMID:15483075   PMID:15489334   PMID:15785240   PMID:16131326   PMID:16710414   PMID:17105838  
PMID:17274741   PMID:18349068   PMID:18426912   PMID:18492748   PMID:18676680   PMID:18793344   PMID:19064291   PMID:19170196   PMID:19190113   PMID:19534619   PMID:19625176   PMID:19692168  
PMID:19730683   PMID:20049650   PMID:21415143   PMID:21563302   PMID:21873635   PMID:21912701   PMID:22067325   PMID:22207295   PMID:22339181   PMID:22544951   PMID:23408906   PMID:23462647  
PMID:23502783   PMID:24162265   PMID:24878678   PMID:25304215   PMID:26305885   PMID:26866568   PMID:26947333   PMID:27351946   PMID:28395858   PMID:28466400   PMID:28617824   PMID:29182613  
PMID:29272308   PMID:29894998   PMID:30152254   PMID:30737677   PMID:31250614   PMID:32694731   PMID:32807452  


Genomics

Comparative Map Data
DIO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl153,891,239 - 53,911,086 (+)EnsemblGRCh38hg38GRCh38
GRCh38153,894,187 - 53,911,086 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37154,359,860 - 54,376,759 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36154,132,449 - 54,149,347 (+)NCBINCBI36hg18NCBI36
Build 34154,071,881 - 54,088,779NCBI
Celera152,647,532 - 52,664,449 (+)NCBI
Cytogenetic Map1p32.3NCBI
HuRef152,475,576 - 52,492,483 (+)NCBIHuRef
CHM1_1154,476,232 - 54,493,132 (+)NCBICHM1_1
Dio1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394107,148,662 - 107,164,365 (-)NCBIGRCm39mm39
GRCm39 Ensembl4107,148,662 - 107,164,366 (-)Ensembl
GRCm384107,291,465 - 107,307,168 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4107,291,465 - 107,307,169 (-)EnsemblGRCm38mm10GRCm38
MGSCv374106,964,070 - 106,979,748 (-)NCBIGRCm37mm9NCBIm37
MGSCv364106,789,399 - 106,805,075 (-)NCBImm8
Celera4105,641,752 - 105,661,893 (-)NCBICelera
Cytogenetic Map4C7NCBI
cM Map450.18NCBI
Dio1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25122,074,285 - 122,090,983 (-)NCBI
Rnor_6.0 Ensembl5126,895,286 - 126,911,520 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05126,894,837 - 126,911,532 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05130,744,425 - 130,760,658 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45128,385,702 - 128,404,015 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15128,390,932 - 128,409,240 (-)NCBI
Celera5120,820,006 - 120,836,676 (-)NCBICelera
Cytogenetic Map5q34NCBI
Dio1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554645,341,245 - 5,355,118 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554645,340,219 - 5,355,182 (-)NCBIChiLan1.0ChiLan1.0
DIO1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1154,762,699 - 54,779,679 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl154,762,744 - 54,779,679 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0153,167,840 - 53,184,961 (+)NCBIMhudiblu_PPA_v0panPan3
DIO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1555,081,894 - 55,098,560 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl555,082,604 - 55,098,529 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha555,148,537 - 55,165,212 (-)NCBI
ROS_Cfam_1.0555,269,989 - 55,286,873 (-)NCBI
UMICH_Zoey_3.1555,264,159 - 55,281,245 (-)NCBI
UNSW_CanFamBas_1.0555,154,202 - 55,171,254 (-)NCBI
UU_Cfam_GSD_1.0555,543,697 - 55,560,784 (-)NCBI
Dio1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505868,166,168 - 68,182,106 (+)NCBI
SpeTri2.0NW_0049365227,234,270 - 7,250,263 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DIO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6158,374,173 - 158,392,754 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16158,376,744 - 158,392,745 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26146,078,270 - 146,094,281 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DIO1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12079,024,209 - 79,041,607 (-)NCBI
Dio1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624934583,302 - 597,982 (-)NCBI

Position Markers
RH80009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37154,376,516 - 54,376,743UniSTSGRCh37
Build 36154,149,104 - 54,149,331RGDNCBI36
Celera152,664,206 - 52,664,433RGD
Cytogenetic Map1p33-p32UniSTS
HuRef152,492,240 - 52,492,467UniSTS
GeneMap99-GB4 RH Map1150.97UniSTS
DIO1_8298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37154,376,122 - 54,376,824UniSTSGRCh37
Build 36154,148,710 - 54,149,412RGDNCBI36
Celera152,663,812 - 52,664,514RGD
HuRef152,491,846 - 52,492,548UniSTS
D1S3255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37154,375,687 - 54,375,990UniSTSGRCh37
Build 36154,148,275 - 54,148,578RGDNCBI36
Celera152,663,377 - 52,663,680RGD
Cytogenetic Map1p33-p32UniSTS
HuRef152,491,411 - 52,491,714UniSTS
Stanford-G3 RH Map12638.0UniSTS
GeneMap99-GB4 RH Map1152.12UniSTS
Whitehead-RH Map1174.3UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map1339.0UniSTS
GeneMap99-G3 RH Map12644.0UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR224hsa-miR-224-5pOncomiRDBexternal_infoNANA21912701

Predicted Target Of
Summary Value
Count of predictions:3679
Count of miRNA genes:953
Interacting mature miRNAs:1149
Transcripts:ENST00000322679, ENST00000361921, ENST00000388876, ENST00000524406, ENST00000525044, ENST00000525202, ENST00000526329, ENST00000527060, ENST00000528946, ENST00000529329, ENST00000529589, ENST00000530084, ENST00000532493, ENST00000534069
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 2 2
Medium 1 1060 392 1 392 1 116 14 675 1
Low 71 122 90 54 330 51 356 24 316 120 582 322 5 53 309 2
Below cutoff 2255 2688 552 170 1400 14 3717 1906 3123 140 800 529 162 1137 2283 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001039715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001039716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_213593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK290780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW294928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY560374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY560375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY560376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY560377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY560378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY560379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY560380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY560381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY560382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY560383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE046205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD014030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ002243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ002244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ002245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ002247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ002248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ002249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S79349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000322679   ⟹   ENSP00000323198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,894,188 - 53,911,084 (+)Ensembl
RefSeq Acc Id: ENST00000361921   ⟹   ENSP00000354643
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,894,187 - 53,911,086 (+)Ensembl
RefSeq Acc Id: ENST00000388876   ⟹   ENSP00000373528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,894,211 - 53,909,999 (+)Ensembl
RefSeq Acc Id: ENST00000524406   ⟹   ENSP00000434152
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,894,211 - 53,909,999 (+)Ensembl
RefSeq Acc Id: ENST00000525044   ⟹   ENSP00000436550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,894,189 - 53,910,109 (+)Ensembl
RefSeq Acc Id: ENST00000525202   ⟹   ENSP00000435725
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,894,211 - 53,909,999 (+)Ensembl
RefSeq Acc Id: ENST00000526329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,894,192 - 53,904,854 (+)Ensembl
RefSeq Acc Id: ENST00000527060   ⟹   ENSP00000435030
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,894,189 - 53,910,109 (+)Ensembl
RefSeq Acc Id: ENST00000528946   ⟹   ENSP00000433891
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,894,189 - 53,910,109 (+)Ensembl
RefSeq Acc Id: ENST00000529329   ⟹   ENSP00000432700
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,894,211 - 53,909,999 (+)Ensembl
RefSeq Acc Id: ENST00000529589   ⟹   ENSP00000432797
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,892,167 - 53,906,294 (+)Ensembl
RefSeq Acc Id: ENST00000530084   ⟹   ENSP00000431999
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,894,189 - 53,910,107 (+)Ensembl
RefSeq Acc Id: ENST00000532493   ⟹   ENSP00000434758
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,894,211 - 53,909,999 (+)Ensembl
RefSeq Acc Id: ENST00000534069
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,891,239 - 53,906,160 (+)Ensembl
RefSeq Acc Id: ENST00000610607   ⟹   ENSP00000483367
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,894,189 - 53,910,109 (+)Ensembl
RefSeq Acc Id: ENST00000613679   ⟹   ENSP00000479755
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,894,188 - 53,911,085 (+)Ensembl
RefSeq Acc Id: ENST00000617230   ⟹   ENSP00000481665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,894,188 - 53,911,085 (+)Ensembl
RefSeq Acc Id: NM_000792   ⟹   NP_000783
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38153,894,187 - 53,911,086 (+)NCBI
GRCh37154,359,860 - 54,376,763 (+)NCBI
Build 36154,132,449 - 54,149,347 (+)NCBI Archive
HuRef152,475,576 - 52,492,483 (+)ENTREZGENE
CHM1_1154,476,232 - 54,493,132 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001039715   ⟹   NP_001034804
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38153,894,187 - 53,911,086 (+)NCBI
GRCh37154,359,860 - 54,376,763 (+)NCBI
Build 36154,132,449 - 54,149,347 (+)NCBI Archive
HuRef152,475,576 - 52,492,483 (+)ENTREZGENE
CHM1_1154,476,232 - 54,493,132 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001039716   ⟹   NP_001034805
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38153,894,187 - 53,911,086 (+)NCBI
GRCh37154,359,860 - 54,376,763 (+)NCBI
Build 36154,132,449 - 54,149,347 (+)NCBI Archive
HuRef152,475,576 - 52,492,483 (+)ENTREZGENE
CHM1_1154,476,232 - 54,493,132 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324316   ⟹   NP_001311245
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38153,894,187 - 53,911,086 (+)NCBI
CHM1_1154,476,232 - 54,493,132 (+)NCBI
Sequence:
RefSeq Acc Id: NM_213593   ⟹   NP_998758
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38153,894,187 - 53,911,086 (+)NCBI
GRCh37154,359,860 - 54,376,763 (+)NCBI
Build 36154,132,449 - 54,149,347 (+)NCBI Archive
HuRef152,475,576 - 52,492,483 (+)ENTREZGENE
CHM1_1154,476,232 - 54,493,132 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136692
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38153,894,187 - 53,911,086 (+)NCBI
CHM1_1154,476,232 - 54,493,132 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136693
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38153,894,187 - 53,911,086 (+)NCBI
CHM1_1154,476,232 - 54,493,132 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000783 (Get FASTA)   NCBI Sequence Viewer  
  NP_001034804 (Get FASTA)   NCBI Sequence Viewer  
  NP_001034805 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311245 (Get FASTA)   NCBI Sequence Viewer  
  NP_998758 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB35380 (Get FASTA)   NCBI Sequence Viewer  
  AAH17955 (Get FASTA)   NCBI Sequence Viewer  
  AAI07171 (Get FASTA)   NCBI Sequence Viewer  
  AAI07172 (Get FASTA)   NCBI Sequence Viewer  
  AAT02480 (Get FASTA)   NCBI Sequence Viewer  
  AAT02481 (Get FASTA)   NCBI Sequence Viewer  
  AAT02482 (Get FASTA)   NCBI Sequence Viewer  
  AAT02483 (Get FASTA)   NCBI Sequence Viewer  
  AAT02484 (Get FASTA)   NCBI Sequence Viewer  
  AAT02485 (Get FASTA)   NCBI Sequence Viewer  
  AAT02486 (Get FASTA)   NCBI Sequence Viewer  
  AAT02487 (Get FASTA)   NCBI Sequence Viewer  
  AAT02488 (Get FASTA)   NCBI Sequence Viewer  
  AAT02489 (Get FASTA)   NCBI Sequence Viewer  
  ACM41656 (Get FASTA)   NCBI Sequence Viewer  
  ACM41657 (Get FASTA)   NCBI Sequence Viewer  
  ACM41658 (Get FASTA)   NCBI Sequence Viewer  
  ACM41660 (Get FASTA)   NCBI Sequence Viewer  
  ACM41661 (Get FASTA)   NCBI Sequence Viewer  
  ACM41662 (Get FASTA)   NCBI Sequence Viewer  
  BAF83469 (Get FASTA)   NCBI Sequence Viewer  
  EAX06720 (Get FASTA)   NCBI Sequence Viewer  
  EAX06721 (Get FASTA)   NCBI Sequence Viewer  
  EAX06722 (Get FASTA)   NCBI Sequence Viewer  
  EAX06723 (Get FASTA)   NCBI Sequence Viewer  
  EAX06724 (Get FASTA)   NCBI Sequence Viewer  
  EAX06725 (Get FASTA)   NCBI Sequence Viewer  
  EAX06726 (Get FASTA)   NCBI Sequence Viewer  
  P49895 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000783   ⟸   NM_000792
- Peptide Label: isoform a
- UniProtKB: P49895 (UniProtKB/Swiss-Prot),   A8K415 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001034805   ⟸   NM_001039716
- Peptide Label: isoform d
- UniProtKB: P49895 (UniProtKB/Swiss-Prot),   A8K415 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001034804   ⟸   NM_001039715
- Peptide Label: isoform c
- UniProtKB: P49895 (UniProtKB/Swiss-Prot),   A8K415 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_998758   ⟸   NM_213593
- Peptide Label: isoform b
- UniProtKB: P49895 (UniProtKB/Swiss-Prot),   A8K415 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311245   ⟸   NM_001324316
- Peptide Label: isoform e
- UniProtKB: P49895 (UniProtKB/Swiss-Prot),   A8K415 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000431999   ⟸   ENST00000530084
RefSeq Acc Id: ENSP00000373528   ⟸   ENST00000388876
RefSeq Acc Id: ENSP00000483367   ⟸   ENST00000610607
RefSeq Acc Id: ENSP00000434758   ⟸   ENST00000532493
RefSeq Acc Id: ENSP00000323198   ⟸   ENST00000322679
RefSeq Acc Id: ENSP00000354643   ⟸   ENST00000361921
RefSeq Acc Id: ENSP00000479755   ⟸   ENST00000613679
RefSeq Acc Id: ENSP00000481665   ⟸   ENST00000617230
RefSeq Acc Id: ENSP00000434152   ⟸   ENST00000524406
RefSeq Acc Id: ENSP00000435725   ⟸   ENST00000525202
RefSeq Acc Id: ENSP00000436550   ⟸   ENST00000525044
RefSeq Acc Id: ENSP00000435030   ⟸   ENST00000527060
RefSeq Acc Id: ENSP00000433891   ⟸   ENST00000528946
RefSeq Acc Id: ENSP00000432797   ⟸   ENST00000529589
RefSeq Acc Id: ENSP00000432700   ⟸   ENST00000529329

Promoters
RGD ID:6855602
Promoter ID:EPDNEW_H966
Type:multiple initiation site
Name:DIO1_1
Description:iodothyronine deiodinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38153,894,187 - 53,894,247EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p32.3-31.3(chr1:50222546-61618373)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|See cases [RCV000051819] Chr1:50222546..61618373 [GRCh38]
Chr1:50688218..62084045 [GRCh37]
Chr1:50460805..61856633 [NCBI36]
Chr1:1p32.3-31.3
pathogenic
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 copy number gain See cases [RCV000051822] Chr1:52595352..76767765 [GRCh38]
Chr1:53061024..77233450 [GRCh37]
Chr1:52833612..77006038 [NCBI36]
Chr1:1p32.3-31.1
pathogenic
GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1 copy number loss See cases [RCV000053839] Chr1:53738212..61439648 [GRCh38]
Chr1:54203885..61905320 [GRCh37]
Chr1:53976473..61677908 [NCBI36]
Chr1:1p32.3-31.3
pathogenic
GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1 copy number loss See cases [RCV000139470] Chr1:53627272..64248854 [GRCh38]
Chr1:54092945..64714537 [GRCh37]
Chr1:53865533..64487125 [NCBI36]
Chr1:1p32.3-31.3
pathogenic
GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3 copy number gain See cases [RCV000141758] Chr1:52787503..67339873 [GRCh38]
Chr1:53253175..67805556 [GRCh37]
Chr1:53025763..67578144 [NCBI36]
Chr1:1p32.3-31.3
likely pathogenic
GRCh38/hg38 1p32.3(chr1:53823735-54328113)x3 copy number gain See cases [RCV000142034] Chr1:53823735..54328113 [GRCh38]
Chr1:54289408..54793786 [GRCh37]
Chr1:54061996..54566374 [NCBI36]
Chr1:1p32.3
uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1 copy number loss See cases [RCV000447334] Chr1:51729573..55164001 [GRCh37]
Chr1:1p32.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p32.3(chr1:54368214-54369730)x0 copy number loss not provided [RCV000736506] Chr1:54368214..54369730 [GRCh37]
Chr1:1p32.3
benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_000792.7(DIO1):c.288G>A (p.Pro96=) single nucleotide variant not provided [RCV000879599] Chr1:53894498 [GRCh38]
Chr1:54360171 [GRCh37]
Chr1:1p32.3
benign
GRCh37/hg19 1p32.3(chr1:54002963-54575440)x3 copy number gain not provided [RCV000846106] Chr1:54002963..54575440 [GRCh37]
Chr1:1p32.3
uncertain significance
GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1 copy number loss Brain malformations and urinary tract defects [RCV001263218] Chr1:53675707..66644963 [GRCh37]
Chr1:1p32.3-31.3
pathogenic
GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514) copy number loss Abnormality of the kidney [RCV001352641] Chr1:51941877..56688514 [GRCh37]
Chr1:1p32.3-32.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2883 AgrOrtholog
COSMIC DIO1 COSMIC
Ensembl Genes ENSG00000211452 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000323198 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000354643 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000373528 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431999 UniProtKB/TrEMBL
  ENSP00000432700 UniProtKB/TrEMBL
  ENSP00000432797 UniProtKB/TrEMBL
  ENSP00000433891 UniProtKB/TrEMBL
  ENSP00000434152 UniProtKB/TrEMBL
  ENSP00000434758 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000435030 UniProtKB/TrEMBL
  ENSP00000435725 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000436550 UniProtKB/TrEMBL
  ENSP00000479755 UniProtKB/TrEMBL
  ENSP00000481665 UniProtKB/TrEMBL
  ENSP00000483367 UniProtKB/TrEMBL
Ensembl Transcript ENST00000322679 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000361921 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000388876 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000524406 UniProtKB/TrEMBL
  ENST00000525044 UniProtKB/TrEMBL
  ENST00000525202 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000527060 UniProtKB/TrEMBL
  ENST00000528946 UniProtKB/TrEMBL
  ENST00000529329 UniProtKB/TrEMBL
  ENST00000529589 UniProtKB/TrEMBL
  ENST00000530084 UniProtKB/TrEMBL
  ENST00000532493 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000610607 UniProtKB/TrEMBL
  ENST00000613679 UniProtKB/TrEMBL
  ENST00000617230 UniProtKB/TrEMBL
Gene3D-CATH 3.40.30.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000211452 GTEx
HGNC ID HGNC:2883 ENTREZGENE
Human Proteome Map DIO1 Human Proteome Map
InterPro Iodothyronine_deiodinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Iodothyronine_deiodinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Iodothyronine_deiodinase_I/III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thioredoxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1733 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1733 ENTREZGENE
OMIM 147892 OMIM
PANTHER PTHR11781 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam T4_deiodinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27337 PharmGKB
PIRSF IOD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IODI_III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE T4_DEIODINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52833 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WVX4_HUMAN UniProtKB/TrEMBL
  A0A087WYB0_HUMAN UniProtKB/TrEMBL
  A0A087X0G2_HUMAN UniProtKB/TrEMBL
  A0A182DWI2_HUMAN UniProtKB/TrEMBL
  A8K415 ENTREZGENE, UniProtKB/TrEMBL
  C6ZRC2_HUMAN UniProtKB/TrEMBL
  E9PI35_HUMAN UniProtKB/TrEMBL
  E9PM07_HUMAN UniProtKB/TrEMBL
  F6RP93_HUMAN UniProtKB/TrEMBL
  IOD1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary D3DQ43 UniProtKB/TrEMBL
  Q1RN02 UniProtKB/Swiss-Prot
  Q3KNP8 UniProtKB/Swiss-Prot
  Q6Q4C1 UniProtKB/Swiss-Prot
  Q6Q4C2 UniProtKB/Swiss-Prot
  Q6Q4C3 UniProtKB/Swiss-Prot
  Q6Q4C4 UniProtKB/Swiss-Prot
  Q6Q4C5 UniProtKB/Swiss-Prot
  Q6Q4C6 UniProtKB/Swiss-Prot
  Q6Q4C7 UniProtKB/Swiss-Prot
  Q6Q4C9 UniProtKB/Swiss-Prot
  Q8WWC6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-10-25 DIO1  iodothyronine deiodinase 1    deiodinase, iodothyronine type I  Symbol and/or name change 5135510 APPROVED
2016-04-12 DIO1  deiodinase, iodothyronine type I    deiodinase, iodothyronine, type I  Symbol and/or name change 5135510 APPROVED
2011-08-16 DIO1  deiodinase, iodothyronine, type I  DIO1  deiodinase, iodothyronine, type I  Symbol and/or name change 5135510 APPROVED