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

    Gene ID: 90326, updated on 10-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 8.5), spleen (RPKM 6.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See THAP3 in Genome Data Viewer
    Location:
    1p36.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (6624868..6635595)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (6150532..6161259)
    RS_2024_09 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

    Expression

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    • 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

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    Related articles in PubMed

    1. THAP3 recruits SMYD3 to OXPHOS genes and epigenetically promotes mitochondrial respiration in hepatocellular carcinoma. Wang ZH, et al. FEBS Lett, 2024 Jun. PMID 38664231
    2. 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
    3. 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
    4. 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
    5. Genetic interaction mapping in mammalian cells using CRISPR interference. Du D, et al. Nat Methods, 2017 Jun. PMID 28481362, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. THAP3 recruits SMYD3 to OXPHOS genes and epigenetically promotes mitochondrial respiration in hepatocellular carcinoma.
      Title: THAP3 recruits SMYD3 to OXPHOS genes and epigenetically promotes mitochondrial respiration in hepatocellular carcinoma.
    Submit: New GeneRIF Correction

    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)

    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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