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    THAP4 THAP domain containing 4 [ Homo sapiens (human) ]

    Gene ID: 51078, updated on 10-Dec-2024

    Summary

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    Official Symbol
    THAP4provided by HGNC
    Official Full Name
    THAP domain containing 4provided by HGNC
    Primary source
    HGNC:HGNC:23187
    See related
    Ensembl:ENSG00000176946 MIM:612533; AllianceGenome:HGNC:23187
    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
    Also known as
    PP238; CGI-36; Nb(III)
    Summary
    Enables several functions, including heme binding activity; nitric oxide binding activity; and peroxynitrite isomerase activity. Involved in nitrate metabolic process and tyrosine metabolic process. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 14.3), heart (RPKM 13.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See THAP4 in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (241584405..241637576, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (242084274..242140900, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (242523820..242576573, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12540 Neighboring gene uncharacterized LOC107985788 Neighboring gene serine/threonine kinase 25 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:242460159-242460383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12542 Neighboring gene uncharacterized LOC105373974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242486359-242486892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242490880-242491690 Neighboring gene BOK antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12543 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12544 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12545 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242509471-242510095 Neighboring gene BCL2 family apoptosis regulator BOK Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242515160-242515660 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:242518885-242519386 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:242519387-242519886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242523714-242524242 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242529014-242529910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242529911-242530805 Neighboring gene RNA, 5S ribosomal pseudogene 122 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_58008 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242548955-242549456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242549457-242549957 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242550174-242550694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242554967-242555773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12547 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12548 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12549 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:242576729-242577656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242578056-242578589 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242584167-242584667 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242584739-242585240 Neighboring gene autophagy related 4B cysteine peptidase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242596891-242597666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242600039-242600540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242600541-242601040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242604899-242605504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242607599-242608100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242608101-242608600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12553 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:242626177-242626439 Neighboring gene deoxythymidylate kinase

    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. Structure of the C-terminal heme-binding domain of THAP domain containing protein 4 from Homo sapiens. Bianchetti CM, et al. Proteins, 2011 Apr. PMID 21387410, Free PMC Article
    2. Voxelwise genome-wide association study (vGWAS). Stein JL, et al. Neuroimage, 2010 Nov 15. PMID 20171287, 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. Human nitrobindin: the first example of an all-β-barrel ferric heme-protein that catalyzes peroxynitrite detoxification. De Simone G, et al. FEBS Open Bio, 2018 Dec. PMID 30524950, Free PMC Article
    5. ATRX promotes heterochromatin formation to protect cells from G-quadruplex DNA-mediated stress. Teng YC, et al. Nat Commun, 2021 Jun 23. PMID 34162889, Free PMC Article

    See all (36) 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

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog
    Voxelwise genome-wide association study (vGWAS).
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables heme binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nitric oxide binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables peroxynitrite isomerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in nitrate metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in tyrosine metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    peroxynitrite isomerase THAP4
    Names
    THAP domain-containing protein 4
    epididymis secretory sperm binding protein
    ferric Homo sapiens nitrobindin
    hs-Nb(III)
    nitrobindin

    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_001164356.2 → NP_001157828.1  peroxynitrite isomerase THAP4 isoform 2

      See identical proteins and their annotated locations for NP_001157828.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at an alternate start codon, and represents the use of an alternate promoter, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AF132970, BC069235
      Consensus CDS
      CCDS54440.1
      UniProtKB/TrEMBL
      B5MCC0
      Related
      ENSP00000385931.1, ENST00000402136.5
      Conserved Domains (1) summary
      cd07828
      Location:10 → 163
      lipocalin_heme-bd-THAP4-like; heme-binding beta-barrel domain of human THAP4, Arabidopsis thaliana nitrobindin, and similar proteins

    2. NM_015963.6 → NP_057047.4  peroxynitrite isomerase THAP4 isoform 1

      See identical proteins and their annotated locations for NP_057047.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC009439, BC069235
      Consensus CDS
      CCDS2551.1
      UniProtKB/Swiss-Prot
      Q53NU7, Q6GRN0, Q6IPJ3, Q8WY91, Q9NW26, Q9Y325
      Related
      ENSP00000385006.1, ENST00000407315.6
      Conserved Domains (3) summary
      pfam05485
      Location:4 → 86
      THAP; THAP domain
      pfam08768
      Location:422 → 574
      DUF1794; Domain of unknown function (DUF1794)
      cl22422
      Location:312 → 425
      SRP68-RBD; RNA-binding domain of signal recognition particle subunit 68

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      241584405..241637576 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004256.2 → XP_016859745.1  peroxynitrite isomerase THAP4 isoform X3

    2. XM_011511291.3 → XP_011509593.1  peroxynitrite isomerase THAP4 isoform X2

      Conserved Domains (2) summary
      pfam05485
      Location:50 → 110
      THAP; THAP domain
      pfam08768
      Location:446 → 625
      DUF1794; Domain of unknown function (DUF1794)

    3. XM_005247016.5 → XP_005247073.4  peroxynitrite isomerase THAP4 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      242084274..242140900 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342394.1 → XP_054198369.1  peroxynitrite isomerase THAP4 isoform X3

    2. XM_054342393.1 → XP_054198368.1  peroxynitrite isomerase THAP4 isoform X2

    3. XM_054342392.1 → XP_054198367.1  peroxynitrite isomerase THAP4 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WY91.2 GenPept UniProtKB/Swiss-Prot:Q8WY91

    Gene LinkOut

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

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