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    THAP5 THAP domain containing 5 [ Homo sapiens (human) ]

    Gene ID: 168451, updated on 2-Nov-2024

    Summary

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    Official Symbol
    THAP5provided by HGNC
    Official Full Name
    THAP domain containing 5provided by HGNC
    Primary source
    HGNC:HGNC:23188
    See related
    Ensembl:ENSG00000177683 MIM:612534; AllianceGenome:HGNC:23188
    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 protease binding activity. Involved in negative regulation of cell cycle and negative regulation of transcription by RNA polymerase II. Located in chromatin and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 13.7), testis (RPKM 10.7) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See THAP5 in Genome Data Viewer
    Location:
    7q31.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (108541759..108569768, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (109865676..109894376, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (108202576..108210212, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene patatin like phospholipase domain containing 8 Neighboring gene ribosomal protein L7 pseudogene 32 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:108164501-108165036 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:108165716-108166676 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26503 Neighboring gene uncharacterized LOC124901722 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:108209746-108210473 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:108219440-108219950 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:108219951-108220459 Neighboring gene MPRA-validated peak6685 silencer Neighboring gene DnaJ heat shock protein family (Hsp40) member B9 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:108233899-108234540 Neighboring gene uncharacterized LOC105375448

    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 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. THAP5 is a DNA-binding transcriptional repressor that is regulated in melanoma cells during DNA damage-induced cell death. Balakrishnan MP, et al. Biochem Biophys Res Commun, 2011 Jan 7. PMID 21110952, Free PMC Article
    2. THAP5 is a human cardiac-specific inhibitor of cell cycle that is cleaved by the proapoptotic Omi/HtrA2 protease during cell death. Balakrishnan MP, et al. Am J Physiol Heart Circ Physiol, 2009 Aug. PMID 19502560, Free PMC Article
    3. Regulation of Abro1/KIAA0157 during myocardial infarction and cell death reveals a novel cardioprotective mechanism for Lys63-specific deubiquitination. Cilenti L, et al. J Mol Cell Cardiol, 2011 Apr. PMID 21195082, Free PMC Article
    4. Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence. Yoon D, et al. Hum Genet, 2012 Jun. PMID 22006218, Free PMC Article
    5. Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities. Docherty SJ, et al. BMC Genet, 2010 Jul 5. PMID 20602751, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Study identified Abro1 as a specific interactor of THAP5, a zinc finger transcription factor that is involved in G2/M control and apoptosis.
      Title: Regulation of Abro1/KIAA0157 during myocardial infarction and cell death reveals a novel cardioprotective mechanism for Lys63-specific deubiquitination.
    2. this work suggests that THAP5 is a DNA-binding protein and a transcriptional repressor. THAP5 has a pro-apoptotic function and it was induced in melanoma cells under conditions that promoted cell death.
      Title: THAP5 is a DNA-binding transcriptional repressor that is regulated in melanoma cells during DNA damage-induced cell death.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities.
    4. THAP5 and its regulation by Omi/HtrA2 provide a new link between cell cycle control and apoptosis in cardiomyocytes
      Title: THAP5 is a human cardiac-specific inhibitor of cell cycle that is cleaved by the proapoptotic Omi/HtrA2 protease during cell death.
    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

    EBI GWAS Catalog

    Description
    Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp313O1132

    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 protease binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin 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
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    THAP domain-containing protein 5

    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_001130475.3 → NP_001123947.1  THAP domain-containing protein 5 isoform 1

      See identical proteins and their annotated locations for NP_001123947.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC005058, AL833137
      Consensus CDS
      CCDS47687.1
      UniProtKB/Swiss-Prot
      Q7Z6K1
      Related
      ENSP00000400500.2, ENST00000415914.4
      Conserved Domains (2) summary
      smart00980
      Location:4 → 85
      THAP; The THAP domain is a putative DNA-binding domain (DBD) and probably also binds a zinc ion
      cl23720
      Location:315 → 373
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    2. NM_001287598.1 → NP_001274527.1  THAP domain-containing protein 5 isoform 3

      See identical proteins and their annotated locations for NP_001274527.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. Variants 3, 4 and 5 encode the same isoform (3), which is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC005058, BC053634, BU567660
      UniProtKB/TrEMBL
      A4D226

    3. NM_001287599.1 → NP_001274528.1  THAP domain-containing protein 5 isoform 3

      See identical proteins and their annotated locations for NP_001274528.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. Variants 3, 4 and 5 encode the same isoform (3), which is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC005058, BF244164, BI830307
      UniProtKB/TrEMBL
      A4D226

    4. NM_001287601.1 → NP_001274530.1  THAP domain-containing protein 5 isoform 3

      See identical proteins and their annotated locations for NP_001274530.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks an alternate exon in the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. Variants 3, 4 and 5 encode the same isoform (3), which is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC005058, AW407519, BC053634, BI830307
      UniProtKB/TrEMBL
      A4D226

    5. NM_182529.3 → NP_872335.2  THAP domain-containing protein 5 isoform 2

      See identical proteins and their annotated locations for NP_872335.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC005058, BC053634, BU567660
      Consensus CDS
      CCDS34734.2
      UniProtKB/Swiss-Prot
      Q7Z6K1
      Related
      ENSP00000322440.5, ENST00000313516.5
      Conserved Domains (2) summary
      pfam05485
      Location:1 → 43
      THAP; THAP domain
      cl23720
      Location:273 → 331
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      108541759..108569768 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419934.1 → XP_047275890.1  THAP domain-containing protein 5 isoform X1

    RNA

    1. XR_007059987.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      109865676..109894376 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357385.1 → XP_054213360.1  THAP domain-containing protein 5 isoform X1

    RNA

    1. XR_008487538.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z6K1.2 GenPept UniProtKB/Swiss-Prot:Q7Z6K1

    Gene LinkOut

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

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