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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:26648197-26654179 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 14.40 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    234 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1921004
 protein coding gene Chr8:26648169-26654179 (+)
129S1/SvImJ ENSMUSG00200021403
 protein coding gene Chr8:21692771-21698781 (+)
A/J ENSMUSG00195005217
 protein coding gene Chr8:22234719-22240729 (+)
AKR/J ENSMUSG00220025536
 protein coding gene Chr8:21858307-21864317 (+)
BALB/cJ ENSMUSG00180005370
 protein coding gene Chr8:21759303-21765314 (+)
C3H/HeJ ENSMUSG00175006388
 protein coding gene Chr8:21822000-21828010 (+)
C57BL/6NJ ENSMUSG00215011512
 protein coding gene Chr8:21733383-21739393 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030939
 protein coding gene Chr8:20634577-20639318 (+)
CAST/EiJ ENSTCUG00005022953
 protein coding gene Chr8:22027828-22033890 (+)
CBA/J ENSMUSG00210013309
 protein coding gene Chr8:21758530-21764540 (+)
DBA/2J ENSMUSG00185037988
 protein coding gene Chr8:27559231-27565241 (+)
FVB/NJ ENSMUSG00205003110
 protein coding gene Chr8:21257436-21263446 (+)
JF1/MsJ ENSUMUG00000024049
 protein coding gene Chr8:29425319-29431336 (+)
LP/J ENSMUSG00230012819
 protein coding gene Chr8:31318712-31324722 (+)
NOD/ShiLtJ ENSMUSG00190004128
 protein coding gene Chr8:21792012-21798022 (+)
NZO/HlLtJ ENSMUSG00225021521
 protein coding gene Chr8:34940067-34946077 (+)
PWK/PhJ ENSLUMG00010025797
 protein coding gene Chr8:21808180-21814197 (+)
SPRET/EiJ ENSMSPG00010016154
 protein coding gene Chr8:22084942-22090210 (+)
WSB/EiJ ENSIUOG00005010847
 protein coding gene Chr8:22493930-22499937 (+)



Homology
more
  • Human Ortholog
    THAP1, THAP domain containing 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    THAP1, THAP domain containing 1
  • Synonyms
    DYT6
  • Links
    NCBI Gene ID: 55145
    UniProt: Q9NVV9

  • Chr Location
    8p11.21; chr8:42836674-42843338 (-)  GRCh38
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
less
  • Phenotype Summary
    17 phenotypes from 4 alleles in 6 genetic backgrounds
    24 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.
Homozygous knockout mice are embryonic lethal. Heterozygous mice show aberrations in motor control and the morphology of the cerebellum dentate nucleus. Homozygosity for the disease-associated p.F81L mutation, compound heterozygosity for mutation and KO or CNS-specific KO leads to hypomyelination of axons in the CNS.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    42
  • GO References
    6
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
membraneless 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
    665
  • Tissues
    34
  • cDNA Data
    27
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 73754 NCBI Gene Model | MGI Sequence Detail 5983 C57BL/6J ±  kb
    transcript NM_199042 RefSeq | MGI Sequence Detail 2267 Not Specified  
    polypeptide Q8CHW1 UniProt | EBI | MGI Sequence Detail 210 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 28
      cDNA 27
      Other 1
      Antibodies 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2142789
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 6
      Phenotypes 24
    • 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:361728 Wang Y, et al., The DYT6 dystonia causative protein THAP1 is responsible for proteasome activity via PSMB5 transcriptional regulation. Nat Commun. 2025 Feb 14;16(1):1600
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory