RRP36 ribosomal RNA processing 36 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RRP36provided by HGNC
Official Full Name: ribosomal RNA processing 36provided by HGNC
Primary source: HGNC:HGNC:21374
See related: Ensembl:ENSG00000124541 MIM:613475; AllianceGenome:HGNC:21374
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: C6orf153; dJ20C7.4
Summary: RRP36 functions at an early stage in the processing of 35S preribosomal RNA into the mature 18S species (Gerus et al., 2010 [PubMed 20038530]).[supplied by OMIM, Jul 2010]
Expression: Ubiquitous expression in appendix (RPKM 16.4), lymph node (RPKM 15.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (43021623..43029599)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (42850722..42858697)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (42989361..42997337)

Chromosome 6 - NC_000006.12 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?

studied the orthologue of Rrp36p in HeLa cells, and showed that the function of this protein in early cleavages of the pre-rRNA has been conserved through evolution in eukaryotes
Title: Evolutionarily conserved function of RRP36 in early cleavages of the pre-rRNA and production of the 40S ribosomal subunit.

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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Markers

RH48428 (e-PCR)
- UniSTS:92451

RH35864 (e-PCR)
- UniSTS:19497

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed

Process	Evidence Code	Pubs
involved_in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA Inferred from Biological aspect of Ancestor more info
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 90S preribosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ribosomal RNA processing protein 36 homolog

Names: RNA processing factor; ribosomal RNA processing 36 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_001329704.2 → NP_001316633.1 ribosomal RNA processing protein 36 homolog isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

BC011933, BI828671, CN311647

UniProtKB/TrEMBL

B2R9K5
NM_033112.4 → NP_149103.1 ribosomal RNA processing protein 36 homolog isoform 1

See identical proteins and their annotated locations for NP_149103.1

Status: VALIDATED

Description

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

Source sequence(s)

BC011933, CN311647

Consensus CDS

CCDS34453.1

UniProtKB/Swiss-Prot

Q96EU6, Q9BRF6, Q9P0C8

UniProtKB/TrEMBL

B2R9K5

Related

ENSP00000244496.5, ENST00000244496.6

Conserved Domains (1) summary

pfam06102
Location:89 → 245

RRP36; rRNA biogenesis protein RRP36

RNA

NR_138081.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AL136304