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THAP3 THAP domain containing 3 [ Homo sapiens (human) ]

Gene ID: 90326, updated on 5-Mar-2024

Summary

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Official Symbol
THAP3provided by HGNC
Official Full Name
THAP domain containing 3provided by HGNC
Primary source
HGNC:HGNC:20855
See related
Ensembl:ENSG00000041988 MIM:612532; AllianceGenome:HGNC:20855
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable DNA binding activity and metal ion binding activity. Involved in positive regulation of transcription by RNA polymerase II. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 8.5), spleen (RPKM 6.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1p36.31
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (6624868..6635595)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (6150532..6161259)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (6684928..6695655)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 87 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 86 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 88 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:6664299-6664647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 171 Neighboring gene PHD finger protein 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 172 Neighboring gene DnaJ heat shock protein family (Hsp40) member C11 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:6706173-6706672 Neighboring gene Sharpr-MPRA regulatory region 8512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 173 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6774349-6775170 Neighboring gene long intergenic non-protein coding RNA 1672 Neighboring gene small nucleolar RNA U13

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias. Mazars R, et al. J Biol Chem, 2010 Apr 30. PMID 20200153, Free PMC Article
  2. Non-erythroid beta spectrin interacting proteins and their effects on spectrin tetramerization. Sevinc A, et al. Cell Mol Biol Lett, 2011 Dec. PMID 21866423, Free PMC Article
  3. The THAP domain: a novel protein motif with similarity to the DNA-binding domain of P element transposase. Roussigne M, et al. Trends Biochem Sci, 2003 Feb. PMID 12575992
  4. Genetic interaction mapping in mammalian cells using CRISPR interference. Du D, et al. Nat Methods, 2017 Jun. PMID 28481362, Free PMC Article
  5. Identification of host proteins required for HIV infection through a functional genomic screen. Brass AL, et al. Science, 2008 Feb 15. PMID 18187620

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of THAP domain containing, apoptosis associated protein 3 (THAP3) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC33488

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
THAP domain-containing protein 3
Names
THAP domain containing, apoptosis associated protein 3

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)

  1. NM_001195752.2 → NP_001182681.1  THAP domain-containing protein 3 isoform 1

    See identical proteins and their annotated locations for NP_001182681.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and it encodes isoform 1.
    Source sequence(s)
    AL031447
    Consensus CDS
    CCDS55573.1
    UniProtKB/Swiss-Prot
    Q8WTV1
    Related
    ENSP00000311537.6, ENST00000307896.10
    Conserved Domains (1) summary
    pfam05485
    Location:4 → 82
    THAP; THAP domain

  2. NM_001195753.2 → NP_001182682.1  THAP domain-containing protein 3 isoform 3

    See identical proteins and their annotated locations for NP_001182682.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains a different 5' exon and uses a different splice site, compared to variant 1. The resulting protein (isoform 3) is longer by 1 amino acid when it is compared to isoform 1.
    Source sequence(s)
    BC092427, BM931707, BU624154
    Consensus CDS
    CCDS55572.1
    UniProtKB/Swiss-Prot
    Q569K1, Q5TH66, Q5TH67, Q8N8T6, Q8WTV1, Q9BSC7, Q9Y3H2, Q9Y3H3
    Related
    ENSP00000054650.4, ENST00000054650.9
    Conserved Domains (1) summary
    pfam05485
    Location:4 → 82
    THAP; THAP domain

  3. NM_001394496.1 → NP_001381425.1  THAP domain-containing protein 3 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL031447
    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

  4. NM_001394497.1 → NP_001381426.1  THAP domain-containing protein 3 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL031447
    Conserved Domains (1) summary
    pfam05485
    Location:6 → 82
    THAP; THAP domain

  5. NM_001394498.1 → NP_001381427.1  THAP domain-containing protein 3 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL031447
    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

  6. NM_001394499.1 → NP_001381428.1  THAP domain-containing protein 3 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AL031447
    Conserved Domains (1) summary
    pfam05485
    Location:6 → 82
    THAP; THAP domain

  7. NM_001394500.1 → NP_001381429.1  THAP domain-containing protein 3 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AL031447
    Conserved Domains (1) summary
    pfam05485
    Location:6 → 82
    THAP; THAP domain

  8. NM_138350.4 → NP_612359.2  THAP domain-containing protein 3 isoform 2

    See identical proteins and their annotated locations for NP_612359.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses a different splice site and contains a different terminal exon, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct C-terminus when it is compared to isoform 1.
    Source sequence(s)
    AL031447
    Consensus CDS
    CCDS86.1
    UniProtKB/Swiss-Prot
    Q8WTV1
    Related
    ENSP00000366854.3, ENST00000377627.7
    Conserved Domains (1) summary
    pfam05485
    Location:4 → 82
    THAP; THAP domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    6624868..6635595
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047433628.1 → XP_047289584.1  THAP domain-containing protein 3 isoform X2

  2. XM_024450686.2 → XP_024306454.1  THAP domain-containing protein 3 isoform X3

    Conserved Domains (1) summary
    pfam05485
    Location:6 → 82
    THAP; THAP domain

  3. XM_011542400.3 → XP_011540702.1  THAP domain-containing protein 3 isoform X1

    Conserved Domains (1) summary
    PHA03247
    Location:4 → 123
    PHA03247; large tegument protein UL36; Provisional

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    6150532..6161259
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339501.1 → XP_054195476.1  THAP domain-containing protein 3 isoform X2

  2. XM_054339502.1 → XP_054195477.1  THAP domain-containing protein 3 isoform X3

  3. XM_054339500.1 → XP_054195475.1  THAP domain-containing protein 3 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WTV1.1 GenPept UniProtKB/Swiss-Prot:Q8WTV1

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