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    THAP6 THAP domain containing 6 [ Homo sapiens (human) ]

    Gene ID: 152815, updated on 7-Apr-2024

    Summary

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    Official Symbol
    THAP6provided by HGNC
    Official Full Name
    THAP domain containing 6provided by HGNC
    Primary source
    HGNC:HGNC:23189
    See related
    Ensembl:ENSG00000174796 MIM:612535; AllianceGenome:HGNC:23189
    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. Located in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 3.8), thyroid (RPKM 3.0) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    4q21.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (75513908..75547328)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (78854102..78887492)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (76439683..76472538)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2483 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:76326102-76326687 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:76326688-76327272 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:76372915-76373483 Neighboring gene uncharacterized LOC107986230 Neighboring gene ring finger and CHY zinc finger domain containing 1 Neighboring gene H3K27ac hESC enhancers GRCh37_chr4:76438722-76439652 and GRCh37_chr4:76439653-76440583 Neighboring gene uncharacterized LOC124900717 Neighboring gene Sharpr-MPRA regulatory region 12890 Neighboring gene odontogenesis associated phosphoprotein Neighboring gene cytochrome c oxidase subunit 6C pseudogene 9 Neighboring gene cyclin dependent kinase like 2

    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. 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
    2. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article
    3. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article
    4. From ORFeome to biology: a functional genomics pipeline. Wiemann S, et al. Genome Res, 2004 Oct. PMID 15489336, Free PMC Article
    5. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Wiemann S, et al. Genome Res, 2001 Mar. PMID 11230166, Free PMC Article

    See all (16) 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

    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

    • MGC30052

    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 
    Component Evidence Code Pubs
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    THAP domain-containing protein 6

    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_001317791.2 → NP_001304720.1  THAP domain-containing protein 6 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter, but has the same N- and C- termini as isoform 1.
      Source sequence(s)
      AC096759, AI743405, BX647579
      Consensus CDS
      CCDS82932.1
      UniProtKB/Swiss-Prot
      Q8TBB0
      Related
      ENSP00000370217.3, ENST00000380837.7
      Conserved Domains (1) summary
      smart00980
      Location:4 → 90
      THAP; The THAP domain is a putative DNA-binding domain (DBD) and probably also binds a zinc ion

    2. NM_144721.6 → NP_653322.1  THAP domain-containing protein 6 isoform 1

      See identical proteins and their annotated locations for NP_653322.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC096759, AI743405, AL833350, DC308535
      Consensus CDS
      CCDS3568.1
      UniProtKB/Swiss-Prot
      B4E146, Q5HYJ7, Q5JPC6, Q8TBB0
      Related
      ENSP00000309007.3, ENST00000311638.7
      Conserved Domains (1) summary
      smart00980
      Location:4 → 90
      THAP; The THAP domain is a putative DNA-binding domain (DBD) and probably also binds a zinc ion

    RNA

    1. NR_133920.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks alternate internal exons and contains an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI445613, AK056959, BF221942

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      75513908..75547328
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531667.4 → XP_011529969.1  THAP domain-containing protein 6 isoform X1

      See identical proteins and their annotated locations for XP_011529969.1

      UniProtKB/Swiss-Prot
      B4E146, Q5HYJ7, Q5JPC6, Q8TBB0
      Conserved Domains (1) summary
      smart00980
      Location:4 → 90
      THAP; The THAP domain is a putative DNA-binding domain (DBD) and probably also binds a zinc ion

    2. XM_047449652.1 → XP_047305608.1  THAP domain-containing protein 6 isoform X4

    3. XM_006714109.5 → XP_006714172.1  THAP domain-containing protein 6 isoform X4

      Conserved Domains (1) summary
      smart00980
      Location:4 → 90
      THAP; The THAP domain is a putative DNA-binding domain (DBD) and probably also binds a zinc ion

    4. XM_005262774.5 → XP_005262831.1  THAP domain-containing protein 6 isoform X5

      See identical proteins and their annotated locations for XP_005262831.1

      UniProtKB/Swiss-Prot
      Q8TBB0
      Related
      ENSP00000427651.1, ENST00000507556.5
      Conserved Domains (1) summary
      smart00980
      Location:4 → 90
      THAP; The THAP domain is a putative DNA-binding domain (DBD) and probably also binds a zinc ion

    5. XM_011531666.3 → XP_011529968.1  THAP domain-containing protein 6 isoform X1

      See identical proteins and their annotated locations for XP_011529968.1

      UniProtKB/Swiss-Prot
      B4E146, Q5HYJ7, Q5JPC6, Q8TBB0
      Related
      ENSP00000423720.1, ENST00000514480.1
      Conserved Domains (1) summary
      smart00980
      Location:4 → 90
      THAP; The THAP domain is a putative DNA-binding domain (DBD) and probably also binds a zinc ion

    6. XM_047449653.1 → XP_047305609.1  THAP domain-containing protein 6 isoform X6

    7. XM_017007800.2 → XP_016863289.1  THAP domain-containing protein 6 isoform X3

      UniProtKB/Swiss-Prot
      Q8TBB0
      Conserved Domains (1) summary
      smart00980
      Location:4 → 90
      THAP; The THAP domain is a putative DNA-binding domain (DBD) and probably also binds a zinc ion

    8. XM_017007801.2 → XP_016863290.1  THAP domain-containing protein 6 isoform X6

    9. XM_005262772.4 → XP_005262829.1  THAP domain-containing protein 6 isoform X2

      Conserved Domains (1) summary
      smart00980
      Location:1 → 49
      THAP; The THAP domain is a putative DNA-binding domain (DBD) and probably also binds a zinc ion

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      78854102..78887492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349016.1 → XP_054204991.1  THAP domain-containing protein 6 isoform X1

      UniProtKB/Swiss-Prot
      B4E146, Q5HYJ7, Q5JPC6, Q8TBB0

    2. XM_054349015.1 → XP_054204990.1  THAP domain-containing protein 6 isoform X1

      UniProtKB/Swiss-Prot
      B4E146, Q5HYJ7, Q5JPC6, Q8TBB0

    3. XM_054349020.1 → XP_054204995.1  THAP domain-containing protein 6 isoform X4

    4. XM_054349023.1 → XP_054204998.1  THAP domain-containing protein 6 isoform X6

    5. XM_054349018.1 → XP_054204993.1  THAP domain-containing protein 6 isoform X3

    6. XM_054349019.1 → XP_054204994.1  THAP domain-containing protein 6 isoform X4

    7. XM_054349021.1 → XP_054204996.1  THAP domain-containing protein 6 isoform X5

    8. XM_054349022.1 → XP_054204997.1  THAP domain-containing protein 6 isoform X6

    9. XM_054349017.1 → XP_054204992.1  THAP domain-containing protein 6 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TBB0.1 GenPept UniProtKB/Swiss-Prot:Q8TBB0

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