CTU1 cytosolic thiouridylase subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CTU1provided by HGNC
Official Full Name: cytosolic thiouridylase subunit 1provided by HGNC
Primary source: HGNC:HGNC:29590
See related: Ensembl:ENSG00000142544 MIM:612694; AllianceGenome:HGNC:29590
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: NCS6; ATPBD3
Summary: Predicted to enable tRNA binding activity. Predicted to be involved in tRNA wobble position uridine thiolation. Predicted to be located in cytosol. Predicted to be part of cytosolic tRNA wobble base thiouridylase complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in kidney (RPKM 1.5), spleen (RPKM 1.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.41

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (51097606..51108409, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (54186212..54197016, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (51600863..51611666, complement)

Chromosome 19 - NC_000019.10 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables nucleotidyltransferase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tRNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in protein urmylation	IEA Inferred from Electronic Annotation more info
involved_in tRNA thio-modification	NAS Non-traceable Author Statement more info	PubMed
involved_in tRNA wobble position uridine thiolation	IBA Inferred from Biological aspect of Ancestor more info
involved_in tRNA wobble uridine modification	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
part_of cytosolic tRNA wobble base thiouridylase complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cytoplasmic tRNA 2-thiolation protein 1

Names: ATP binding domain 3; ATP-binding domain-containing protein 3; cancer-associated gene protein; cancer-associated protein; cytoplasmic tRNA adenylyltransferase 1; cytosolic thiouridylase subunit 1 homolog

NP_660275.2

EC 2.7.7.-

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_145232.4 → NP_660275.2 cytoplasmic tRNA 2-thiolation protein 1

See identical proteins and their annotated locations for NP_660275.2

Status: VALIDATED

Source sequence(s)

AC011473, AK291173, BX440723

Consensus CDS

CCDS12824.1

UniProtKB/Swiss-Prot

A8K558, Q7Z7A3, Q96GZ7

Related

ENSP00000390011.1, ENST00000421832.3

Conserved Domains (3) summary

TIGR00269
Location:207 → 308

TIGR00269; TIGR00269 family protein

COG0037
Location:54 → 322

TilS; tRNA(Ile)-lysidine synthase TilS/MesJ [Translation, ribosomal structure and biogenesis]

cd01993
Location:54 → 243

Alpha_ANH_like_II; This is a subfamily of Adenine nucleotide alpha hydrolases superfamily.Adeninosine nucleotide alpha hydrolases superfamily includes N type ATP PPases and ATP sulphurylases. It forms a apha/beta/apha fold which binds to Adenosine group. This subfamily ...