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Dio1 Gene Detail
Summary
  • Symbol
    Dio1
  • Name
    deiodinase, iodothyronine, type I
  • Synonyms
    D1
  • Feature Type
    protein coding gene
  • IDs
    MGI:94896
    NCBI Gene: 13370
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
  • Candidate for QTL
    5 QTL
Location &
Maps
more
  • Sequence Map
    Chr4:107148662-107164365 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 50.18 cM
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    217 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    5
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_94896
 protein coding gene Chr4:107148662-107164366 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028537
 protein coding gene Chr4:107976166-107992336 (-)
A/J MGP_AJ_G0028500
 protein coding gene Chr4:104102050-104117498 (-)
AKR/J MGP_AKRJ_G0028447
 protein coding gene Chr4:106663554-106681138 (-)
BALB/cJ MGP_BALBcJ_G0028519
 protein coding gene Chr4:104295865-104311263 (-)
C3H/HeJ MGP_C3HHeJ_G0028233
 protein coding gene Chr4:107402251-107418291 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028959
 protein coding gene Chr4:111852917-111868344 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026250
 protein coding gene Chr4:99384321-99400354 (-)
CAST/EiJ MGP_CASTEiJ_G0027669
 protein coding gene Chr4:105219392-105236288 (-)
CBA/J MGP_CBAJ_G0028202
 protein coding gene Chr4:115478844-115496716 (-)
DBA/2J MGP_DBA2J_G0028350
 protein coding gene Chr4:103725714-103741520 (-)
FVB/NJ MGP_FVBNJ_G0028318
 protein coding gene Chr4:102592949-102608391 (-)
LP/J MGP_LPJ_G0028451
 protein coding gene Chr4:108167234-108183858 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028344
 protein coding gene Chr4:120766900-120784886 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028995
 protein coding gene Chr4:106891289-106907676 (-)
PWK/PhJ MGP_PWKPhJ_G0027395
 protein coding gene Chr4:101969200-101985577 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027219
 protein coding gene Chr4:104285972-104301702 (-)
WSB/EiJ MGP_WSBEiJ_G0027750
 protein coding gene Chr4:107072610-107087977 (-)



Homology
more
  • Human Ortholog
    DIO1, iodothyronine deiodinase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DIO1, iodothyronine deiodinase 1
  • Synonyms
    5DI, THMA2, TXDI1
  • Links
    NCBI Gene ID: 1733
    neXtProt AC: NX_P49895
    UniProt: P49895

  • Chr Location
    1p32.3; chr1:53891239-53911086 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human DIO1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 2 alleles in 2 genetic backgrounds
    27 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a disruption in this gene display elevated thyroxine (T4) and reverse triiodothyronine (rT3) levels and changes in the metabolism and excretion of iodothyronines.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    8
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    859
  • Tissues
    143
  • cDNA Data
    27
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13370 NCBI Gene Model | MGI Sequence Detail 15704 C57BL/6J ±  kb
    transcript NM_007860 RefSeq | MGI Sequence Detail 1707 ZRU/MplStud  
    polypeptide Q61153 UniProt | EBI | MGI Sequence Detail 257 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 37
      Genomic 3
      cDNA 29
      Primer pair 5

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-8849
    References
    more
    • Summaries
      All 71
      Developmental Gene Expression 14
      Gene Ontology 7
      Phenotypes 27
    • Earliest
      J:3643 Schoenmakers CH, et al., Impairment of the selenoenzyme type I iodothyronine deiodinase in C3H/He mice. Endocrinology. 1993 Jan;132(1):357-61
    • Latest
      J:331365 Martinez ME, et al., DIO3 protects against thyrotoxicosis-derived cranio-encephalic and cardiac congenital abnormalities. JCI Insight. 2022 Nov 8;7(21)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory