RRP9 ribosomal RNA processing 9, U3 small nucleolar RNA binding protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: RRP9provided by HGNC
Official Full Name: ribosomal RNA processing 9, U3 small nucleolar RNA binding proteinprovided by HGNC
Primary source: HGNC:HGNC:16829
See related: Ensembl:ENSG00000114767 MIM:620013; AllianceGenome:HGNC:16829
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: U3-55K; RNU3IP2
Summary: This gene encodes a member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processing during ribosome synthesis. It contains seven WD domains required for nucleolar localization and specific interaction with the U3 small nucleolar RNA (U3 snoRNA). [provided by RefSeq, Oct 2012]
Expression: Ubiquitous expression in appendix (RPKM 6.7), adrenal (RPKM 6.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (51933429..51941904, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (51966348..51974823, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (51967445..51975920, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Joint effect of RRP9 and DDX21 on development of colorectal cancer and keloid.
Title: Joint effect of RRP9 and DDX21 on development of colorectal cancer and keloid.
RRP9 and DDX21 as new biomarkers of colorectal cancer.
Title: RRP9 and DDX21 as new biomarkers of colorectal cancer.
Neddylation modification of the U3 snoRNA-binding protein RRP9 by Smurf1 promotes tumorigenesis.
Title: Neddylation modification of the U3 snoRNA-binding protein RRP9 by Smurf1 promotes tumorigenesis.
Data show that U3 snoRNP assembly, and therefore U3 snoRNA accumulation, is regulated through the U3-specific protein hU3-55K.
Title: A weak C' box renders U3 snoRNA levels dependent on hU3-55K binding.
the frequencies of African American race and male sex are greater among systemic sclerosis patients with anti-U3 RNP antibody than those without
Title: Anti-U3 RNP autoantibodies in systemic sclerosis.
Mammalian and yeast U3 snoRNPs are matured in specific and related nuclear compartments.
Title: Mammalian and yeast U3 snoRNPs are matured in specific and related nuclear compartments.

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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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Markers

SHGC-77016 (e-PCR)
- UniSTS:83319

IB2040 (e-PCR)
- UniSTS:49120

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
contributes_to U3 snoRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables U3 snoRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables snoRNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in rRNA processing	IC Inferred by Curator more info	PubMed
involved_in rRNA processing	IDA Inferred from Direct Assay more info	PubMed
involved_in ribosomal small subunit biogenesis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of box C/D methylation guide snoRNP complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of small-subunit processome	IBA Inferred from Biological aspect of Ancestor more info
part_of small-subunit processome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: U3 small nucleolar RNA-interacting protein 2

Names: RNA, U3 small nucleolar interacting protein 2; RRP9 homolog; RRP9, small subunit (SSU) processome component, homolog; U3 small nucleolar ribonucleoprotein-associated 55 kDa protein; U3 snoRNP-associated 55-kDa protein; ribosomal RNA processing 9, small subunit (SSU) processome component, 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_004704.5 → NP_004695.1 U3 small nucleolar RNA-interacting protein 2

See identical proteins and their annotated locations for NP_004695.1

Status: REVIEWED

Source sequence(s)

AA465355, AC115284, BC010048

Consensus CDS

CCDS2837.1

UniProtKB/Swiss-Prot

B2R996, O43818, Q8IZ30

Related

ENSP00000232888.6, ENST00000232888.7

Conserved Domains (2) summary

cd00200
Location:139 → 439

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:149 → 197

7WD40; WD40 repeat [structural motif]