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    THAP7 THAP domain containing 7 [ Homo sapiens (human) ]

    Gene ID: 80764, updated on 27-Nov-2024

    Summary

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    Official Symbol
    THAP7provided by HGNC
    Official Full Name
    THAP domain containing 7provided by HGNC
    Primary source
    HGNC:HGNC:23190
    See related
    Ensembl:ENSG00000184436 MIM:609518; AllianceGenome:HGNC:23190
    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
    Enables several functions, including C2H2 zinc finger domain binding activity; histone binding activity; and histone deacetylase binding activity. Involved in chromatin organization and negative regulation of transcription by RNA polymerase II. Located in chromatin; nuclear membrane; and nuclear speck. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 11.7), ovary (RPKM 8.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See THAP7 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (20999104..21002118, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (21407895..21410909, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (21353393..21356407, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene AIF family member 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21326197-21326388 Neighboring gene Sharpr-MPRA regulatory region 818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13504 Neighboring gene leucine zipper like post translational regulator 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21353453-21354008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13506 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21357012-21357402 Neighboring gene THAP7 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21363733-21363878 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:21364621-21365436 Neighboring gene tubulin alpha 3f pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18695 Neighboring gene purinergic receptor P2X 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21386396-21386906 Neighboring gene solute carrier family 7 member 4

    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. Thanatos-associated protein 7 associates with template activating factor-Ibeta and inhibits histone acetylation to repress transcription. Macfarlan T, et al. Mol Endocrinol, 2006 Feb. PMID 16195249
    2. Observation of dually decoded regions of the human genome using ribosome profiling data. Michel AM, et al. Genome Res, 2012 Nov. PMID 22593554, Free PMC Article
    3. Human THAP7 is a chromatin-associated, histone tail-binding protein that represses transcription via recruitment of HDAC3 and nuclear hormone receptor corepressor. Macfarlan T, et al. J Biol Chem, 2005 Feb 25. PMID 15561719
    4. Ronin is essential for embryogenesis and the pluripotency of mouse embryonic stem cells. Dejosez M, et al. Cell, 2008 Jun 27. PMID 18585351, Free PMC Article
    5. 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

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. demonstration of the transcriptional regulatory properties of a human THAP domain protein, and a critical identification of a potential transducer of the repressive signal of hypoacetylated histone H4 in higher eukaryotes
      Title: Human THAP7 is a chromatin-associated, histone tail-binding protein that represses transcription via recruitment of HDAC3 and nuclear hormone receptor corepressor.
    2. THAP7 may represent a novel class of transcription factor that uses TAF-Ibeta as a corepressor to maintain histones in a hypoacetylated, repressed state.
      Title: Thanatos-associated protein 7 associates with template activating factor-Ibeta and inhibits histone acetylation to repress transcription.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC10963

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables C2H2 zinc finger domain binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables general transcription initiation factor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone deacetylase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone reader activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables lysine-acetylated histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables methylated histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphorylated histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription corepressor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromatin organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    THAP domain-containing protein 7

    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_001008695.1 → NP_001008695.1  THAP domain-containing protein 7

      See identical proteins and their annotated locations for NP_001008695.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      BC004346, BE264280, BM790105
      Consensus CDS
      CCDS13787.1
      UniProtKB/Swiss-Prot
      B2RD97, D3DX40, Q9BT49
      Related
      ENSP00000382084.2, ENST00000399133.2
      Conserved Domains (1) summary
      smart00980
      Location:4 → 93
      THAP; The THAP domain is a putative DNA-binding domain (DBD) and probably also binds a zinc ion

    2. NM_030573.3 → NP_085050.2  THAP domain-containing protein 7

      See identical proteins and their annotated locations for NP_085050.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC002470, AC002472, BC004346, BE264280, BM790105
      Consensus CDS
      CCDS13787.1
      UniProtKB/Swiss-Prot
      B2RD97, D3DX40, Q9BT49
      Related
      ENSP00000215742.4, ENST00000215742.9
      Conserved Domains (1) summary
      smart00980
      Location:4 → 93
      THAP; The THAP domain is a putative DNA-binding domain (DBD) and probably also binds a zinc ion

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      20999104..21002118 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      21407895..21410909 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001008696.1: Suppressed sequence

      Description
      NM_001008696.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BT49.2 GenPept UniProtKB/Swiss-Prot:Q9BT49

    Gene LinkOut

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

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