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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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