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    TASOR transcription activation suppressor [ Homo sapiens (human) ]

    Gene ID: 23272, updated on 14-Nov-2024

    Summary

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    Official Symbol
    TASORprovided by HGNC
    Official Full Name
    transcription activation suppressorprovided by HGNC
    Primary source
    HGNC:HGNC:30314
    See related
    Ensembl:ENSG00000163946 MIM:616493; AllianceGenome:HGNC:30314
    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
    RAP140; TASOR1; se89-1; C3orf63; FAM208A
    Summary
    Enables chromatin binding activity. Involved in protein localization to heterochromatin and regulation of macromolecule biosynthetic process. Located in heterochromatin and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 15.9), lymph node (RPKM 11.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TASOR in Genome Data Viewer
    Location:
    3p14.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (56620132..56683265, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (56660459..56723580, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (56654160..56717293, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ELKS/RAB6-interacting/CAST family member 2 Neighboring gene RNA, 5S ribosomal pseudogene 133 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:56288084-56288696 Neighboring gene NANOG hESC enhancer GRCh37_chr3:56469501-56470002 Neighboring gene uncharacterized LOC105377099 Neighboring gene Sharpr-MPRA regulatory region 10072 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:56590646-56591318 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:56591319-56591990 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:56716124-56717068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14471 Neighboring gene coiled-coil domain containing 66 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:56796980-56797857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14472 Neighboring gene Sharpr-MPRA regulatory region 9253 Neighboring gene Rho guanine nucleotide exchange factor 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:56886037-56887236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14473 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14474 Neighboring gene Sharpr-MPRA regulatory region 9226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:56949810-56950362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:56950363-56950913 Neighboring gene ARHGEF3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57040522-57041053 Neighboring gene Sharpr-MPRA regulatory region 6639 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:57049075-57049840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:57086410-57086910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:57086911-57087411 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57097817-57098598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19985 Neighboring gene spermatogenesis associated 12

    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. TASOR is a pseudo-PARP that directs HUSH complex assembly and epigenetic transposon control. Douse CH, et al. Nat Commun, 2020 Oct 2. PMID 33009411, Free PMC Article
    2. HUSH-mediated HIV silencing is independent of TASOR phosphorylation on threonine 819. Vauthier V, et al. Retrovirology, 2022 Oct 29. PMID 36309692, Free PMC Article
    3. Retinoblastoma-associated protein 140 as a candidate for a novel etiological gene to hypertension. Crespo K, et al. Clin Exp Hypertens, 2016. PMID 27391979
    4. Periphilin self-association underpins epigenetic silencing by the HUSH complex. Prigozhin DM, et al. Nucleic Acids Res, 2020 Oct 9. PMID 32976585, Free PMC Article
    5. Identification and cloning of the cDNA of a Rb-associated protein RAP140a. Li Q, et al. Sci China C Life Sci, 2000 Dec. PMID 18726359

    See all (74) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HUSH-mediated HIV silencing is independent of TASOR phosphorylation on threonine 819.
      Title: HUSH-mediated HIV silencing is independent of TASOR phosphorylation on threonine 819.
    2. TASOR epigenetic repressor cooperates with a CNOT1 RNA degradation pathway to repress HIV.
      Title: TASOR epigenetic repressor cooperates with a CNOT1 RNA degradation pathway to repress HIV.
    3. Periphilin self-association underpins epigenetic silencing by the HUSH complex.
      Title: Periphilin self-association underpins epigenetic silencing by the HUSH complex.
    4. TASOR is a pseudo-PARP that directs HUSH complex assembly and epigenetic transposon control.
      Title: TASOR is a pseudo-PARP that directs HUSH complex assembly and epigenetic transposon control.
    5. Genes co-repressed by TRIM28 and FAM208A are evolutionarily young, or exhibit tissue-specific expression, are enriched in young L1s, and display evidence for regulation through LTR promoters. Finally, we demonstrate that the HUSH complex is also required to repress L1 elements in human cells.
      Title: The HUSH complex cooperates with TRIM28 to repress young retrotransposons and new genes.
    6. The haploid screen identified HUSH, an epigenetic heterochromatin repressor complex composed of three subunits, TASOR, MPP8 and Periphilin. (Review)
      Title: Position-effect variegation revisited: HUSHing up heterochromatin in human cells.
    7. Rap140/Fam208a probably encoding a transcription factor is the strongest candidate for a novel Blood pressure quantitative trait locus that acts via a putative Rap140/Fam208a-Slc7a12-BP pathway.
      Title: Retinoblastoma-associated protein 140 as a candidate for a novel etiological gene to hypertension.
    8. this study identified the HUSH (human silencing hub) complex, comprising three poorly characterized proteins, TASOR (FAM208A), MPP8, and periphilin; this complex is absent from Drosophila but is conserved from fish to humans.
      Title: GENE SILENCING. Epigenetic silencing by the HUSH complex mediates position-effect variegation in human cells.
    9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of C3orf63 by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed
    Knockdown of family with sequence similarity 208, member A (FAM208A; C3orf63) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1105, DKFZp686C2456

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chromatin binding 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 anterior/posterior axis specification, embryo ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in constitutive heterochromatin formation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mesodermal to mesenchymal transition involved in gastrulation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of gene expression, epigenetic IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of gene expression, epigenetic IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to heterochromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to heterochromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transposable element silencing by heterochromatin formation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in heterochromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in heterochromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    protein TASOR
    Names
    CTCL tumor antigen se89-1
    family with sequence similarity 208 member A
    protein FAM208A
    retinoblastoma-associated protein 140
    retinoblastoma-associated protein RAP140
    transgene activation suppressor protein

    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_001112736.2 → NP_001106207.1  protein TASOR isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant contains an alternate 3' terminal exon, resulting in a frameshift compared to variant 4. The encoded isoform (a) has a novel C-terminus, and is shorter compared to isoform d.
      Source sequence(s)
      AC099781, AK094486, BC129987, BI559851, BX648955
      Consensus CDS
      CCDS46853.1
      UniProtKB/Swiss-Prot
      Q9UK61
      Related
      ENSP00000417509.2, ENST00000493960.6
      Conserved Domains (1) summary
      pfam12509
      Location:158 → 319
      DUF3715; Protein of unknown function (DUF3715)

    2. NM_001363940.1 → NP_001350869.1  protein TASOR isoform c

      Status: VALIDATED

      Source sequence(s)
      AC099781
      Consensus CDS
      CCDS87094.1
      Related
      ENSP00000347845.5, ENST00000355628.9
      Conserved Domains (2) summary
      pfam12300
      Location:53 → 110
      RhlB; ATP-dependent RNA helicase RhlB
      pfam12509
      Location:166 → 319
      DUF3715; Protein of unknown function (DUF3715)

    3. NM_001365635.2 → NP_001352564.1  protein TASOR isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) encodes the longest isoform (d).
      Source sequence(s)
      AC099781
      Consensus CDS
      CCDS93292.1
      UniProtKB/Swiss-Prot
      A1L3A4, B5ME28, Q9H2F7, Q9UK61, Q9UPP7
      Related
      ENSP00000508241.1, ENST00000683822.1
      Conserved Domains (2) summary
      pfam12300
      Location:53 → 110
      RhlB; ATP-dependent RNA helicase RhlB
      pfam12509
      Location:166 → 319
      DUF3715; Protein of unknown function (DUF3715)

    4. NM_001365636.2 → NP_001352565.1  protein TASOR isoform e

      Status: VALIDATED

      Source sequence(s)
      AC099781
      Conserved Domains (2) summary
      pfam12300
      Location:53 → 110
      RhlB; ATP-dependent RNA helicase RhlB
      pfam12509
      Location:166 → 319
      DUF3715; Protein of unknown function (DUF3715)

    5. NM_001365637.2 → NP_001352566.1  protein TASOR isoform f

      Status: VALIDATED

      Source sequence(s)
      AC099781
      Conserved Domains (2) summary
      pfam12300
      Location:53 → 110
      RhlB; ATP-dependent RNA helicase RhlB
      pfam12509
      Location:166 → 319
      DUF3715; Protein of unknown function (DUF3715)

    6. NM_001365638.2 → NP_001352567.1  protein TASOR isoform g

      Status: VALIDATED

      Source sequence(s)
      AC099781
      Conserved Domains (2) summary
      pfam12300
      Location:53 → 110
      RhlB; ATP-dependent RNA helicase RhlB
      pfam12509
      Location:166 → 319
      DUF3715; Protein of unknown function (DUF3715)

    7. NM_015224.3 → NP_056039.2  protein TASOR isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several 5' coding exons and uses a downstream start codon compared to variant 4. The encoded isoform (b) has a shorter N-terminus compared to isoform d.
      Source sequence(s)
      AC099781, BC029354, BC129987
      Consensus CDS
      CCDS2877.1
      UniProtKB/TrEMBL
      A0A087X0F1
      Related
      ENSP00000399410.2, ENST00000431842.6

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      56620132..56683265 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447814.1 → XP_047303770.1  protein TASOR isoform X1

    2. XM_047447815.1 → XP_047303771.1  protein TASOR isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      56660459..56723580 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345876.1 → XP_054201851.1  protein TASOR isoform X1

    2. XM_054345877.1 → XP_054201852.1  protein TASOR isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UK61.3 GenPept UniProtKB/Swiss-Prot:Q9UK61

    Gene LinkOut

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

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