TASOR transcription activation suppressor [Homo sapiens (human)] - Gene

Summary

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, Dec 2024]
Expression: Ubiquitous expression in testis (RPKM 15.9), lymph node (RPKM 11.5) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Periphilin self-association underpins epigenetic silencing by the HUSH complex.
Title: Periphilin self-association underpins epigenetic silencing by the HUSH complex.
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.
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.
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.
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.
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.
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

Go to the top of the page Help

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 EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

G62688 (e-PCR)
- UniSTS:139813

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

D3S2752E (e-PCR)
- UniSTS:150350

SHGC-77020 (e-PCR)
- UniSTS:29111

D3S2886E (e-PCR)
- UniSTS:47832

RH98805 (e-PCR)
- UniSTS:89055

RH98424 (e-PCR)
- UniSTS:84721

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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

Go to the top of the page Help

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)

Go to the top of the page Help

NEW Try the new Transcript table

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)

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)
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)
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)
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)
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)
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)
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