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THAP1 THAP domain containing 1 [ Homo sapiens (human) ]

Gene ID: 55145, updated on 9-Dec-2018

Summary

Official Symbol
THAP1provided by HGNC
Official Full Name
THAP domain containing 1provided by HGNC
Primary source
HGNC:HGNC:20856
See related
Ensembl:ENSG00000131931 MIM:609520
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DYT6
Summary
The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 7.0), thyroid (RPKM 5.5) and 25 other tissues See more
Orthologs

Genomic context

See THAP1 in Genome Data Viewer
Location:
8p11.21
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (42836674..42843331, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (42691817..42698474, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene cholinergic receptor nicotinic beta 3 subunit Neighboring gene ribosomal protein L7 like 1 pseudogene Neighboring gene cholinergic receptor nicotinic alpha 6 subunit Neighboring gene ring finger protein 170 Neighboring gene RNA, 7SL, cytoplasmic 806, pseudogene Neighboring gene microRNA 4469

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10477, MGC33014

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell cycle IEA
Inferred from Electronic Annotation
more info
 
endothelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
PML body IEA
Inferred from Electronic Annotation
more info
 
fibrillar center IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
THAP domain-containing protein 1
Names
4833431A01Rik
THAP domain containing, apoptosis associated protein 1
THAP domain protein 1
nuclear proapoptotic factor

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_011837.1 RefSeqGene

    Range
    5001..11658
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018105.3NP_060575.1  THAP domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_060575.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC087533
    Consensus CDS
    CCDS6136.1
    UniProtKB/Swiss-Prot
    Q9NVV9
    Related
    ENSP00000254250.3, ENST00000254250.7
    Conserved Domains (1) summary
    smart00980
    Location:482
    THAP; The THAP domain is a putative DNA-binding domain (DBD) and probably also binds a zinc ion
  2. NM_199003.1NP_945354.1  THAP domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_945354.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a coding exon compared to variant 1, which causes a frameshift. The resulting isoform (2) has a distinct and shorter C-terminus, as compared to isoform 1.
    Source sequence(s)
    AI475984, AL832077, BG497522, CD639319
    Consensus CDS
    CCDS6137.1
    UniProtKB/Swiss-Prot
    Q9NVV9
    Related
    ENSP00000344966.2, ENST00000345117.2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    42836674..42843331 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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