Thap1 THAP domain containing, apoptosis associated protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Thap1provided by MGI
Official Full Name: THAP domain containing, apoptosis associated protein 1provided by MGI
Primary source: MGI:MGI:1921004
See related: Ensembl:ENSMUSG00000037214 AllianceGenome:MGI:1921004
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 4833431A01Rik
Summary: Predicted to enable several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; protein homodimerization activity; and zinc ion binding activity. Predicted to be involved in several processes, including endothelial cell proliferation; negative regulation of transcription by RNA polymerase II; and transcription, DNA-templated. Predicted to be located in fibrillar center and nucleoplasm. Predicted to be active in nucleus. Is expressed in forelimb bud and genitourinary system. Used to study torsion dystonia 6. Human ortholog(s) of this gene implicated in torsion dystonia 6. Orthologous to human THAP1 (THAP domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis adult (RPKM 5.6), CNS E11.5 (RPKM 3.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 A2; 8 14.4 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (26648197..26654179)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (26158169..26164151)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pharmacological perturbation reveals deficits in D2 receptor responses in Thap1 null mice.
Title: Pharmacological perturbation reveals deficits in D2 receptor responses in Thap1 null mice.
The dystonia gene THAP1 controls DNA double-strand break repair choice.
Title: The dystonia gene THAP1 controls DNA double-strand break repair choice.
Abnormal cerebellar function and tremor in a mouse model for non-manifesting partially penetrant dystonia type 6.
Title: Abnormal cerebellar function and tremor in a mouse model for non-manifesting partially penetrant dystonia type 6.
Dysfunction in similar pathways occurring with mutations in THAP1 as well as diverse dystonia genes highlight a point of convergence in the pathophysiology of several forms of inherited dystonia.
Title: Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.
Wild-type THAP1 regulates embryonic stem cell (ESC) potential, survival, and proliferation. Loss of THAP1 or replacement with a disease-causing mutation results in an enhanced rate of cell death, prolongs Nanog, Prdm14, and/or Rex1 expression upon differentiation, and results in failure to upregulate ectodermal genes.
Title: THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation.
These studies establish a role for THAP1 transcriptional regulation at the inception of myelination and implicate abnormal timing of myelination in the pathogenesis of childhood-onset dystonia.
Title: The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation
Endonuclease-mediated (2)

General gene information

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Markers

AW490810 (e-PCR)
- UniSTS:179723

NoName (e-PCR)
- UniSTS:235857

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
involved_in endothelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in regulation of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in fibrillar center	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: THAP domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_199042.2 → NP_950243.1 THAP domain-containing protein 1

See identical proteins and their annotated locations for NP_950243.1

Status: VALIDATED

Source sequence(s)

AC093366, AC154102

Consensus CDS

CCDS22208.1

UniProtKB/Swiss-Prot

Q8CHW1

UniProtKB/TrEMBL

D3YTK5

Related

ENSMUSP00000042464.6, ENSMUST00000036807.13

Conserved Domains (1) summary

smart00980
Location:4 → 82

THAP; The THAP domain is a putative DNA-binding domain (DBD) and probably also binds a zinc ion