Details for: DIO1

Gene ID: 1733

Symbol: DIO1

Ensembl ID: ENSG00000211452

Description: iodothyronine deiodinase 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: amacrine cell (CL0000561)
    Fold Change: 9.49
    Marker Score: 30393
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 5.51
    Marker Score: 6866
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 4.25
    Marker Score: 12610
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 4.23
    Marker Score: 4054.5
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 4.21
    Marker Score: 12279
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 3.58
    Marker Score: 30264
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 2.97
    Marker Score: 2949
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169992
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 869
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.23
    Marker Score: 2887
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.12
    Marker Score: 7462
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.04
    Marker Score: 2980
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 795
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71817
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48041
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.97
    Marker Score: 1025
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5327
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.93
    Marker Score: 543
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.92
    Marker Score: 2627
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2740
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.9
    Marker Score: 2947
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.8
    Marker Score: 2825
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1260
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 707
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 395
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.75
    Marker Score: 3243
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.75
    Marker Score: 1520
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.7
    Marker Score: 546
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.69
    Marker Score: 1304
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.66
    Marker Score: 212
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.65
    Marker Score: 4184
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.61
    Marker Score: 418.5
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.6
    Marker Score: 399
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.59
    Marker Score: 256
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 148
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.56
    Marker Score: 232
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.54
    Marker Score: 264
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.54
    Marker Score: 329
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.53
    Marker Score: 8229
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.51
    Marker Score: 2719
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.49
    Marker Score: 473
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.47
    Marker Score: 209
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.45
    Marker Score: 141
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.43
    Marker Score: 112
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.43
    Marker Score: 815
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.42
    Marker Score: 2532
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.4
    Marker Score: 622
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.4
    Marker Score: 127
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.38
    Marker Score: 217
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 370
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.36
    Marker Score: 170
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.35
    Marker Score: 132
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.32
    Marker Score: 195
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.3
    Marker Score: 145
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.3
    Marker Score: 270
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.28
    Marker Score: 114
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.26
    Marker Score: 317
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.24
    Marker Score: 842
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.23
    Marker Score: 135
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.22
    Marker Score: 406
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.21
    Marker Score: 63
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.21
    Marker Score: 271
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.21
    Marker Score: 105
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.21
    Marker Score: 222
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.21
    Marker Score: 200
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.21
    Marker Score: 120
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.2
    Marker Score: 93
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.2
    Marker Score: 1734
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.2
    Marker Score: 268
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.19
    Marker Score: 109
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.18
    Marker Score: 69
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.18
    Marker Score: 178
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.18
    Marker Score: 282
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.17
    Marker Score: 76
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.17
    Marker Score: 1629
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.17
    Marker Score: 95
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.17
    Marker Score: 692
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.16
    Marker Score: 33
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.16
    Marker Score: 107
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.16
    Marker Score: 240
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.15
    Marker Score: 186
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.15
    Marker Score: 55
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.15
    Marker Score: 36
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.14
    Marker Score: 277
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.14
    Marker Score: 245
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.14
    Marker Score: 79
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.14
    Marker Score: 35
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.14
    Marker Score: 35
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 0.14
    Marker Score: 36
  • Cell Name: vasa recta ascending limb cell (CL1001131)
    Fold Change: 0.13
    Marker Score: 35
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.13
    Marker Score: 271
  • Cell Name: glomerular endothelial cell (CL0002188)
    Fold Change: 0.13
    Marker Score: 33
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.13
    Marker Score: 1108
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.13
    Marker Score: 135
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.13
    Marker Score: 33

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Other Information

**Key characteristics:** * Gene name: DIO1 * Ensembl ID: ENSG00000211452 * Protein: IOD1_HUMAN (Type I iodothyronine deiodinase) * Cellular location: Various cell types, including amacrine cell, retinal ganglion cell, OFF-bipolar cell, retina horizontal cell, ON-bipolar cell, retinal bipolar neuron, type B pancreatic cell, mural cell, granulocyte monocyte progenitor cell, kidney proximal straight tubule epithelial cell * Function: Iodothyronine deiodination, essential for the generation of thyroid hormones **Pathways and functions:** * **Amino acid metabolic process:** DIO1 is involved in the metabolism of amino acids and their derivatives, including the synthesis of thyroid hormones. * **Endoplasmic reticulum membrane:** DIO1 is a protein found in the endoplasmic reticulum, a network of membrane-bound structures that facilitate the transport and processing of proteins and lipids. * **Hormone biosynthetic process:** DIO1 is involved in the biosynthesis of thyroid hormones, including T4 and T3. * **Metabolism of amine-derived hormones:** DIO1 is also involved in the metabolism of amine-derived hormones, such as tyroxine and epinephrine. * **Regulation of thyroid hormone activity:** DIO1 plays a role in regulating the activity of thyroid hormones by deiodinating T4 to form T3. * **Selenium binding:** DIO1 is a selenium-dependent enzyme, which is essential for its catalytic activity. **Clinical significance:** * Mutations in the DIO1 gene have been linked to several human diseases, including cretinism, goiter, and hyperthyroidism. * Dysregulation of DIO1 activity has been implicated in the pathogenesis of these diseases. * Therefore, targeting DIO1 has emerged as a potential therapeutic strategy for these disorders.

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 EPD 1 Ensembl 5 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 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 PROSITE-ProRule 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:

ARBA 1 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 4 GO 3 Gene3D 1 GenomeRNAi 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. For the full schema, download it here.