About   Help   FAQ
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
    gene 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
    18
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 MGP_129S1SvImJ_G0033497
 protein coding gene Chr8:24255871-24260599 (+)
A/J MGP_AJ_G0033477
 protein coding gene Chr8:23365466-23370194 (+)
AKR/J MGP_AKRJ_G0033402
 protein coding gene Chr8:24136781-24141509 (+)
BALB/cJ MGP_BALBcJ_G0033473
 protein coding gene Chr8:23516080-23520808 (+)
C3H/HeJ MGP_C3HHeJ_G0033187
 protein coding gene Chr8:24346941-24351669 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033989
 protein coding gene Chr8:25239071-25243799 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030939
 protein coding gene Chr8:20634577-20639318 (+)
CAST/EiJ MGP_CASTEiJ_G0032513
 protein coding gene Chr8:23798520-23803305 (+)
CBA/J MGP_CBAJ_G0033162
 protein coding gene Chr8:26214695-26219423 (+)
DBA/2J MGP_DBA2J_G0033317
 protein coding gene Chr8:23331623-23336351 (+)
FVB/NJ MGP_FVBNJ_G0033261
 protein coding gene Chr8:23143632-23148360 (+)
LP/J MGP_LPJ_G0033406
 protein coding gene Chr8:24233240-24237968 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033304
 protein coding gene Chr8:25662548-25667276 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034008
 protein coding gene Chr8:24087863-24092591 (+)
PWK/PhJ MGP_PWKPhJ_G0032224
 protein coding gene Chr8:22976901-22981639 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032058
 protein coding gene Chr8:23461890-23466580 (+)
WSB/EiJ MGP_WSBEiJ_G0032629
 protein coding gene Chr8:24298533-24303261 (+)



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
    neXtProt AC: NX_Q9NVV9
    UniProt: Q9NVV9

  • Chr Location
    8p11.21; chr8:42836674-42843325 (-)  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
    14 phenotypes from 3 alleles in 3 genetic backgrounds
    18 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    32
  • GO References
    5
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
    770
  • Tissues
    33
  • cDNA Data
    27
  • Literature Summary
    4
  • 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

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2142789
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 5
      Phenotypes 18
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory