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Tdp1 Gene Detail
Summary
  • Symbol
    Tdp1
  • Name
    tyrosyl-DNA phosphodiesterase 1
  • Synonyms
    2810481F14Rik, 4921509N21Rik, E430034L06Rik, SCAN1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1920036
    NCBI Gene: 104884
  • Gene Overview
    MyGene.info: TDP1
Location & Maps
more
  • Sequence Map
    Chr12:99884517-99955219 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      70703 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 50.43 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    TDP1, tyrosyl-DNA phosphodiesterase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TDP1, tyrosyl-DNA phosphodiesterase 1
    Orthology source: HGNC, HomoloGene
  • Links
    NCBI Gene ID: 55775
    neXtProt AC: NX_Q9NUW8

  • Chr Location
    14q32.11; chr14:89954935-90044764 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 5424
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: TDP1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Tdp1 mouse models; 1 with human TDP1 associations

Human Disease Mouse Models
       Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy;   OMIM: 607250 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 1 allele in 3 genetic backgrounds
    17 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.
  • All Mutations and Alleles
    10
  • Chemically induced (other)
    1
  • Gene trapped
    6
  • Targeted
    3
  • Genomic Mutations
    1 involving Tdp1
  • Incidental Mutations
Mice homozygous for a null allele exhibit defective single strand DNA repair in neurons, decreased cerebellum size and increased sensitivity to topotecan.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033586 VEGA Gene Model | MGI Sequence Detail 70703 C57BL/6J ±  kb
transcript OTTMUST00000084599 VEGA | MGI Sequence Detail 2036 Not Applicable  
polypeptide OTTMUSP00000045614 VEGA | MGI Sequence Detail 609 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    705 from dbSNP Build 142
Protein
Information
less
  • Protein Ontology
    PR:000016215 tyrosyl-DNA phosphodiesterase 1
Molecular
Reagents
less
  • All nucleic 7
    cDNA 7

    Microarray probesets 3
Other
Accession IDs
less
MGI:1918105, MGI:2144890, MGI:2145029, MGI:3041233
References
more
  • Summaries
    All 35
    Developmental Gene Expression 2
    Diseases 2
    Gene Ontology 4
    Phenotypes 17
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:215106 Yeo AJ, et al., R-loops in proliferating cells but not in the brain: implications for AOA2 and other autosomal recessive ataxias. PLoS One. 2014;9(3):e90219

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory