TSR3 TSR3 ribosome maturation factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: TSR3provided by HGNC
Official Full Name: TSR3 ribosome maturation factorprovided by HGNC
Primary source: HGNC:HGNC:14175
See related: Ensembl:ENSG00000007520 MIM:617058; AllianceGenome:HGNC:14175
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: HsTsr3; C16orf42
Summary: Enables transferase activity. Involved in enzyme-directed rRNA pseudouridine synthesis. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in fat (RPKM 23.3), kidney (RPKM 22.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (1349240..1351878, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (1365417..1368055, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (1399241..1401879, complement)

Chromosome 16 - NC_000016.10 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?

Structurally, Tsr3 represents a novel class of acp transferase enzymes.
Title: Ribosome biogenesis factor Tsr3 is the aminocarboxypropyl transferase responsible for 18S rRNA hypermodification in yeast and humans.

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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 18S rRNA aminocarboxypropyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables S-adenosyl-L-methionine binding	IEA Inferred from Electronic Annotation more info
enables transferase activity	EXP Inferred from Experiment more info	PubMed

Process	Evidence Code	Pubs
involved_in enzyme-directed rRNA pseudouridine synthesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maturation of SSU-rRNA	IBA Inferred from Biological aspect of Ancestor more info
involved_in rRNA modification	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: 18S rRNA aminocarboxypropyltransferase

Names: 20S S rRNA accumulation protein 3 homolog; TSR3, 20S rRNA accumulation, homolog; TSR3, acp transferase ribosome maturation factor; probable ribosome biogenesis protein C16orf42; ribosome biogenesis protein TSR3 homolog

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_001001410.3 → NP_001001410.1 18S rRNA aminocarboxypropyltransferase

See identical proteins and their annotated locations for NP_001001410.1

Status: VALIDATED

Source sequence(s)

AL031709, BC016699, BC017325

Consensus CDS

CCDS10435.1

UniProtKB/Swiss-Prot

Q6PJT8, Q9UJK0

Related

ENSP00000007390.2, ENST00000007390.3

Conserved Domains (3) summary

PRK02287
Location:65 → 223

PRK02287; hypothetical protein; Provisional

pfam04034
Location:96 → 220

DUF367; Domain of unknown function (DUF367)

pfam04068
Location:60 → 92

RLI; Possible Fer4-like domain in RNase L inhibitor, RLI