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Thap1 Gene Detail
Summary
  • Symbol
    Thap1
  • Name
    THAP domain containing, apoptosis associated protein 1
  • Synonyms
    4833431A01Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921004
    NCBI Gene: 73754
  • Gene Overview
    MyGene.info: THAP1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr8:26158141-26164151 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6011 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 14.40 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    THAP1, THAP domain containing 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    THAP1, THAP domain containing 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DYT6
  • Links
    NCBI Gene ID: 55145
    neXtProt AC: NX_Q9NVV9
    UniProt: Q9NVV9

  • Chr Location
    8p11.21; chr8:42836674-42843331 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Thap1 mouse models; 1 with human THAP1 associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 2 alleles in 2 genetic backgrounds
    7 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous KO is embryonic lethal. Heterozygous KO affects motor control and the morphology of the cerebellum dentate nucleus.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000031061 VEGA Gene Model | MGI Sequence Detail 6011 C57BL/6J ±  kb
    transcript OTTMUST00000076951 VEGA | MGI Sequence Detail 2295 Not Applicable  
    polypeptide OTTMUSP00000040574 VEGA | MGI Sequence Detail 210 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      8 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 28
      cDNA 27
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2142789
    References
    more
    • Summaries
      All 32
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 3
      Phenotypes 7
    • 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:257441 Zakirova Z, et al., Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions. PLoS Genet. 2018 Jan;14(1):e1007169

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory