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TASOR transcription activation suppressor [ Homo sapiens (human) ]

Gene ID: 23272, updated on 3-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
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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. USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle. Song N, et al. Mol Carcinog, 2023 Oct. PMID 37314216
  5. 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

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)

Genotypes

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 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 negative regulation of single stranded viral RNA replication via double stranded DNA intermediate IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of DNA methylation-dependent heterochromatin formation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of DNA methylation-dependent heterochromatin formation 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 
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

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Chemical Information
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