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

Gene ID: 168451, updated on 5-Mar-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, Apr 2022]
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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Location:
7q31.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (108541759..108569768, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (109865676..109894376, complement)
105.20220307 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
  • 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 (16) 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 cell cycle IEA
Inferred from Electronic Annotation
more info
  
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
part_of 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_2023_10

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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