TUT1 terminal uridylyl transferase 1, U6 snRNA-specific [Homo sapiens (human)] - Gene

Summary

Official Symbol: TUT1provided by HGNC
Official Full Name: terminal uridylyl transferase 1, U6 snRNA-specificprovided by HGNC
Primary source: HGNC:HGNC:26184
See related: Ensembl:ENSG00000149016 MIM:610641; AllianceGenome:HGNC:26184
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PAPD2; RBM21; TENT1; URLC6; TUTase; STARPAP
Summary: This gene encodes a nucleotidyl transferase that functions as both a terminal uridylyltransferase and a nuclear poly(A) polymerase. The encoded enzyme specifically adds and removes nucleotides from the 3' end of small nuclear RNAs and select mRNAs and may function in controlling gene expression and cell proliferation.[provided by RefSeq, Apr 2009]
Expression: Ubiquitous expression in testis (RPKM 10.1), spleen (RPKM 7.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (62575052..62591523, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (62564505..62580971, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (62342524..62358995, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Star-PAP controls oncogene expression through primary miRNA 3'-end formation to regulate cellular proliferation and tumour formation.
Title: Star-PAP controls oncogene expression through primary miRNA 3'-end formation to regulate cellular proliferation and tumour formation.
Mechanism of U6 snRNA oligouridylation by human TUT1.
Title: Mechanism of U6 snRNA oligouridylation by human TUT1.
Star-PAP RNA Binding Landscape Reveals Novel Role of Star-PAP in mRNA Metabolism That Requires RBM10-RNA Association.
Title: Star-PAP RNA Binding Landscape Reveals Novel Role of Star-PAP in mRNA Metabolism That Requires RBM10-RNA Association.
Crystallographic and biochemical studies of TUT1 revealed the molecular mechanism underlying the specific oligo-uridylylation of the 3'-end of U6 snRNA by TUT1.
Title: Crystal structures of U6 snRNA-specific terminal uridylyltransferase.
KLHL7 is a novel regulator of the nucleolus associated with TUT1 ubiquitination, and pathogenic KLHL7 mutants may provide valuable information to elucidate a mechanism of retinitis pigmentosa etiology.
Title: KLHL7 promotes TUT1 ubiquitination associated with nucleolar integrity: Implications for retinitis pigmentosa.
Star-PAP possesses tumor-suppressing activity.
Title: Star-PAP, a poly(A) polymerase, functions as a tumor suppressor in an orthotopic human breast cancer model.
Star-PAP-specific polyadenylation sites usage regulates the expression of the eukaryotic translation initiation factor EIF4A1, the tumor suppressor gene PTEN and the long non-coding RNA NEAT1.
Title: Distinct regulation of alternative polyadenylation and gene expression by nuclear poly(A) polymerases.
Star-PAP recognises a unique nucleotide motif on its target mRNA.CstF-64 and 3'-UTR cis-element determine Star-PAP specificity for target mRNA selection by excluding poly A polymerase.
Title: CstF-64 and 3'-UTR cis-element determine Star-PAP specificity for target mRNA selection by excluding PAPα.
Nucleotidyl transferase TUT1 inhibits lipogenesis in osteosarcoma cells through regulation of microRNA-24 and microRNA-29a.
Title: Nucleotidyl transferase TUT1 inhibits lipogenesis in osteosarcoma cells through regulation of microRNA-24 and microRNA-29a.
Star-PAP controls E6 mRNA polyadenylation and expression and modulates wild-type p53 levels.
Title: Star-PAP controls HPV E6 regulation of p53 and sensitizes cells to VP-16.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Expression of HIV-1 Tat upregulates the abundance of terminal uridylyl transferase 1 (TUT1) in the nucleoli of Jurkat T-cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66302 (e-PCR)
- UniSTS:3624

SHGC-57995 (e-PCR)
- UniSTS:31892

SHGC-2363 (e-PCR)
- UniSTS:88521

SHGC-105031 (e-PCR)
- UniSTS:173810

Clone Names

FLJ21850, FLJ22267, FLJ22347, MGC131987, MGC149809

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA uridylyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables U6 snRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables enzyme-substrate adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables mRNA 3'-UTR binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables poly(A) RNA polymerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables poly(A) RNA polymerase activity	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 RNA 3'-end processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in U6 snRNA 3'-end processing	IDA Inferred from Direct Assay more info	PubMed
involved_in co-transcriptional mRNA 3'-end processing, cleavage and polyadenylation pathway	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in histone mRNA catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA 3'-end processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in snRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
part_of mRNA cleavage and polyadenylation specificity factor complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in nuclear speck	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: speckle targeted PIP5K1A-regulated poly(A) polymerase

Names: PAP-associated domain-containing 2; RNA uridylyltransferase; RNA-binding motif protein 21; RNA-binding protein 21; TUTase 6; U6 snRNA-specific terminal uridylyltransferase 1; U6-TUTase; nuclear speckle targeted phosphatidylinositol 4-phosphate 5-kinase type I-alpha regulated-poly(A) polymerase; nuclear speckle-targeted PIPK1A-regulated-poly(A) polymerase; poly(A) polymerase associated domain containing 2; star-PAP; up-regulated in lung cancer 6

NP_001354835.1

EC 2.7.7.19

EC 2.7.7.52

NP_073741.3

EC 2.7.7.19

EC 2.7.7.52

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)

NM_001367906.1 → NP_001354835.1 speckle targeted PIP5K1A-regulated poly(A) polymerase isoform 2

Status: REVIEWED

Source sequence(s)

AP002990

UniProtKB/TrEMBL

H3BRB1
NM_022830.3 → NP_073741.3 speckle targeted PIP5K1A-regulated poly(A) polymerase isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AP002990

Consensus CDS

CCDS8021.3

UniProtKB/Swiss-Prot

A1A527, A8K995, Q2NL65, Q7L583, Q9H6E5, Q9H6H7

UniProtKB/TrEMBL

A0A0A8K9B1, F5H0R1

Related

ENSP00000419607.1, ENST00000476907.6