RMRP RNA component of mitochondrial RNA processing endoribonuclease [Homo sapiens (human)] - Gene

Summary

Official Symbol: RMRPprovided by HGNC
Official Full Name: RNA component of mitochondrial RNA processing endoribonucleaseprovided by HGNC
Primary source: HGNC:HGNC:10031
See related: Ensembl:ENSG00000277027 MIM:157660; AllianceGenome:HGNC:10031
Gene type: ncRNA
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CHH; NME1; RRP2; RMRPR
Summary: This gene encodes the RNA component of mitochondrial RNA processing endoribonuclease, which cleaves mitochondrial RNA at a priming site of mitochondrial DNA replication. This RNA also interacts with the telomerase reverse transcriptase catalytic subunit to form a distinct ribonucleoprotein complex that has RNA-dependent RNA polymerase activity and produces double-stranded RNAs that can be processed into small interfering RNA. Mutations in this gene are associated with cartilage-hair hypoplasia.[provided by RefSeq, Mar 2010]
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Genomic context

Location:: 9p13.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (35657750..35658019, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (35678402..35678671, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (35657747..35658016, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.
Title: RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.
Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.
Title: Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.
Abnormal expression of long non-coding RNAs RMRP, CTC-487M23.5, and DGCR5 in the peripheral blood of patients with Bipolar disorder.
Title: Abnormal expression of long non-coding RNAs RMRP, CTC-487M23.5, and DGCR5 in the peripheral blood of patients with Bipolar disorder.
m[6]A-mediated upregulation of lncRNA RMRP boosts the progression of bladder cancer via epigenetically suppressing SCARA5.
Title: m(6)A-mediated upregulation of lncRNA RMRP boosts the progression of bladder cancer via epigenetically suppressing SCARA5.
Widespread association of ERalpha with RMRP and tRNA genes in MCF-7 cells and breast cancers.
Title: Widespread association of ERα with RMRP and tRNA genes in MCF-7 cells and breast cancers.
A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis.
Title: A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis.
Differential expression analysis of CCDC107 and RMRP lncRNA as potential biomarkers in colorectal cancer diagnosis.
Title: Differential expression analysis of CCDC107 and RMRP lncRNA as potential biomarkers in colorectal cancer diagnosis.
Crystal structure of human RPP20-RPP25 proteins in complex with the P3 domain of lncRNA RMRP.
Title: Crystal structure of human RPP20-RPP25 proteins in complex with the P3 domain of lncRNA RMRP.
ALKBH5-mediated m6A demethylation of lncRNA RMRP plays an oncogenic role in lung adenocarcinoma.
Title: ALKBH5-mediated m6A demethylation of lncRNA RMRP plays an oncogenic role in lung adenocarcinoma.
lncRNA RMRP predicts poor prognosis and mediates tumor progression of esophageal squamous cell carcinoma by regulating miR-613/ neuropilin 2 (NRP2) axis.
Title: lncRNA RMRP predicts poor prognosis and mediates tumor progression of esophageal squamous cell carcinoma by regulating miR-613/ neuropilin 2 (NRP2) axis.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Anauxetic dysplasia 1 MedGen: C4551965 OMIM: 607095 GeneReviews: Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders	Compare labs
Metaphyseal chondrodysplasia, McKusick type MedGen: C0220748 OMIM: 250250 GeneReviews: Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders	Compare labs
Metaphyseal dysplasia without hypotrichosis MedGen: C1834821 OMIM: 250460 GeneReviews: Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders	Compare labs

Variation

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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.