Details for: DIO1

Gene ID: 1733

Symbol: DIO1

Ensembl ID: ENSG00000211452

Description: iodothyronine deiodinase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 3.6019
    Cell Significance Index: 38.2700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6326
    Cell Significance Index: 125.5500
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.4610
    Cell Significance Index: 7.7700
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.3914
    Cell Significance Index: 12.3800
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 0.2881
    Cell Significance Index: 1.0900
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.2134
    Cell Significance Index: 3.5900
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 0.1493
    Cell Significance Index: 1.8800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.1464
    Cell Significance Index: 21.2800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.1163
    Cell Significance Index: 2.2700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1091
    Cell Significance Index: 1.8700
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.0942
    Cell Significance Index: 0.7200
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.0918
    Cell Significance Index: 1.1600
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.0882
    Cell Significance Index: 1.2800
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.0573
    Cell Significance Index: 0.3300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0477
    Cell Significance Index: 64.8900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0474
    Cell Significance Index: 0.7000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0468
    Cell Significance Index: 8.4300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0442
    Cell Significance Index: 8.8700
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.0244
    Cell Significance Index: 0.3500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0230
    Cell Significance Index: 8.2400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0170
    Cell Significance Index: 26.1900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0133
    Cell Significance Index: 1.6400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0133
    Cell Significance Index: 0.8200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0114
    Cell Significance Index: 21.0400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0089
    Cell Significance Index: 16.7200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0063
    Cell Significance Index: 4.0200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0045
    Cell Significance Index: 2.4800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0039
    Cell Significance Index: 0.1100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0036
    Cell Significance Index: 0.2000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0017
    Cell Significance Index: -0.0500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0018
    Cell Significance Index: -1.3700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0021
    Cell Significance Index: -0.6000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0022
    Cell Significance Index: -1.5800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0031
    Cell Significance Index: -1.4000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0034
    Cell Significance Index: -0.0900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0041
    Cell Significance Index: -2.3300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0074
    Cell Significance Index: -0.5900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0077
    Cell Significance Index: -0.1100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0078
    Cell Significance Index: -1.3400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0079
    Cell Significance Index: -0.9000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0095
    Cell Significance Index: -0.4200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0123
    Cell Significance Index: -2.5900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0137
    Cell Significance Index: -1.0500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0145
    Cell Significance Index: -0.5500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0179
    Cell Significance Index: -1.2100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0181
    Cell Significance Index: -2.4800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0192
    Cell Significance Index: -2.4800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0204
    Cell Significance Index: -2.1200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0212
    Cell Significance Index: -1.5800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0224
    Cell Significance Index: -2.2900
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.0345
    Cell Significance Index: -0.3300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0370
    Cell Significance Index: -1.7400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0388
    Cell Significance Index: -0.9300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0429
    Cell Significance Index: -2.2300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0490
    Cell Significance Index: -1.5600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0492
    Cell Significance Index: -1.0200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0520
    Cell Significance Index: -0.6200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0545
    Cell Significance Index: -1.3200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0569
    Cell Significance Index: -1.6400
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.0577
    Cell Significance Index: -0.7200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0588
    Cell Significance Index: -2.0600
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.0594
    Cell Significance Index: -0.7500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0598
    Cell Significance Index: -1.4600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0602
    Cell Significance Index: -1.9700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0624
    Cell Significance Index: -1.6700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0669
    Cell Significance Index: -2.3500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0678
    Cell Significance Index: -1.4400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0687
    Cell Significance Index: -1.9600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0687
    Cell Significance Index: -1.7700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0700
    Cell Significance Index: -2.5700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0723
    Cell Significance Index: -3.6600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0759
    Cell Significance Index: -1.6400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0765
    Cell Significance Index: -2.6600
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0786
    Cell Significance Index: -1.9600
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.0794
    Cell Significance Index: -1.1300
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: -0.0816
    Cell Significance Index: -0.8100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0817
    Cell Significance Index: -1.7900
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: -0.0858
    Cell Significance Index: -0.8500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0872
    Cell Significance Index: -2.1800
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: -0.0888
    Cell Significance Index: -1.0500
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0914
    Cell Significance Index: -3.9800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0915
    Cell Significance Index: -1.8100
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.0920
    Cell Significance Index: -1.1900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0924
    Cell Significance Index: -2.6500
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0946
    Cell Significance Index: -1.9000
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0950
    Cell Significance Index: -2.3700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0967
    Cell Significance Index: -1.3200
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0969
    Cell Significance Index: -2.4200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0974
    Cell Significance Index: -2.5600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0982
    Cell Significance Index: -1.4500
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.0991
    Cell Significance Index: -1.3800
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0991
    Cell Significance Index: -2.2900
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0993
    Cell Significance Index: -0.8100
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1013
    Cell Significance Index: -2.5800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.1028
    Cell Significance Index: -1.2800
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1029
    Cell Significance Index: -0.9800
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: -0.1063
    Cell Significance Index: -1.0400
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1090
    Cell Significance Index: -2.3300
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.1097
    Cell Significance Index: -2.2900
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.1123
    Cell Significance Index: -1.8500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** DIO1 is a selenocysteine-dependent enzyme, meaning it requires the amino acid selenocysteine to catalyze its activity. This unique characteristic sets it apart from other deiodinases, which are selenium-independent. DIO1 is also a type II integral membrane protein, with its active site located on the extracellular side of the endoplasmic reticulum membrane. The enzyme's substrate specificity is narrow, with T4 being the primary substrate for DIO1-mediated conversion to T3. **Pathways and Functions:** DIO1 is involved in several key biological pathways, including: 1. **Thyroid Hormone Metabolism:** DIO1 catalyzes the conversion of T4 to T3, which is then transported to the nucleus, where it regulates gene expression. 2. **Amino Acid Metabolic Process:** DIO1 has been implicated in the regulation of amino acid metabolism, particularly in the context of pancreatic beta-cell function. 3. **Hormone Biosynthetic Process:** DIO1 plays a role in the biosynthesis of thyroid hormones, with T4 serving as a precursor for T3 production. 4. **Regulation of Thyroid Hormone Activity:** DIO1's activity is regulated by various factors, including thyroid hormone levels, and is critical for maintaining thyroid hormone homeostasis. **Clinical Significance:** DIO1's role in thyroid hormone metabolism has significant implications for various diseases, including: 1. **Hypothyroidism:** Abnormalities in DIO1 activity may contribute to hypothyroidism, a condition characterized by decreased thyroid hormone production. 2. **Hyperthyroidism:** Altered DIO1 activity may also contribute to hyperthyroidism, a condition marked by excessive thyroid hormone production. 3. **Neurological Disorders:** DIO1's role in thyroid hormone metabolism has been implicated in neurological disorders, such as Alzheimer's disease and Parkinson's disease. 4. **Cancer:** Abnormal DIO1 activity has been linked to certain types of cancer, including pancreatic cancer. In conclusion, DIO1 is a complex enzyme with far-reaching implications for thyroid hormone regulation and beyond. Further research into the mechanisms underlying DIO1's functions and its role in disease will continue to shed light on the intricacies of thyroid hormone metabolism and its impact on human health.

Genular Protein ID: 3658442938

Symbol: IOD1_HUMAN

Name: Type I iodothyronine deiodinase

UniProtKB Accession Codes:

P49895 Q1RN02 Q3KNP8 Q6Q4C1 Q6Q4C2 Q6Q4C3 Q6Q4C4 Q6Q4C5 Q6Q4C6 Q6Q4C7 Q6Q4C9 Q8WWC6

Database IDs:

AGR 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 5 CTD 1 ChEBI 6 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EC 1 EMBL 16 Ensembl 5 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIRSF 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 8 RNAct 1 Reactome 1 RefSeq 5 Rhea 2 SABIO-RK 1 SIGNOR 1 STRING 1 SUPFAM 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 1400883

Title: Cloning and in vitro expression of the human selenoprotein, type I iodothyronine deiodinase.

PubMed ID: 1400883

DOI: 10.1210/jcem.75.4.1400883

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7651427

Title: A novel retinoid X receptor-independent thyroid hormone response element is present in the human type 1 deiodinase gene.

PubMed ID: 7651427

DOI: 10.1128/mcb.15.9.5100

PubMed ID: 32718224

Title: Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism.

PubMed ID: 32718224

DOI: 10.1089/thy.2020.0253

Sequence Information:

  • Length: 249
  • Mass: 28924
  • Checksum: 2D8BBFBA54B5A927
  • Sequence:
    • MGLPQPGLWL KRLWVLLEVA VHVVVGKVLL ILFPDRVKRN ILAMGEKTGM TRNPHFSHDN 
WIPTFFSTQY FWFVLKVRWQ RLEDTTELGG LAPNCPVVRL SGQRCNIWEF MQGNRPLVLN 
FGSCTUPSFM FKFDQFKRLI EDFSSIADFL VIYIEEAHAS DGWAFKNNMD IRNHQNLQDR 
LQAAHLLLAR SPQCPVVVDT MQNQSSQLYA ALPERLYIIQ EGRILYKGKS GPWNYNPEEV 
RAVLEKLHS

Genular Protein ID: 768325428

Symbol: A8K415_HUMAN

Name: N/A

UniProtKB Accession Codes:

A8K415

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 GO 4 Gene3D 1 InterPro 1 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 1 RefSeq 5 RuleBase 1 SAM 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

Sequence Information:

  • Length: 125
  • Mass: 14480
  • Checksum: 134F319D37EADC63
  • Sequence:
    • MGLPQPGLWL KRLWVLLEVA VHVVVGKVLL ILFPDRVKRN ILAMGEKTGM TRNPHFSHDN 
WIPTFFSTQY FWFVLKVRWQ RLEDTTELGG LAPNCPVVRL SGQRCNIWEF MQGNRPLVLN 
FGSCT

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.