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Aliases for RMRP Gene

Subcategory (RNA class) for RMRP Gene

lncRNA

Quality Score for this RNA gene is

6

Aliases for RMRP Gene

  • RNA Component Of Mitochondrial RNA Processing Endoribonuclease 2 3
  • RMRPR 3 6
  • CHH 3 6
  • Cartilage-Hair Hypoplasia 2
  • NME1 3
  • RRP2 3

External Ids for RMRP Gene

Previous HGNC Symbols for RMRP Gene

  • CHH

Previous GeneCards Identifiers for RMRP Gene

  • GC09U990067

Summaries for RMRP Gene

Entrez Gene Summary for RMRP Gene

  • 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]

GeneCards Summary for RMRP Gene

RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with RMRP include cartilage-hair hypoplasia and metaphyseal dysplasia without hypotrichosis. Among its related pathways are Integrated Pancreatic Cancer Pathway and Regulation of CDC42 activity.

Gene Wiki entry for RMRP Gene

fRNAdb sequence ontologies for RMRP Gene - the ORGUL cluster for this gene includes several descriptions:

  • RNase_MRP_RNA: The RNA molecule essential for the catalytic activity of RNase MRP, an enzymatically active ribonucleoprotein with two distinct roles in eukaryotes. In mitochondria it plays a direct role in the initiation of mitochondrial DNA replication. In the nucleus it is involved in precursor rRNA processing, where it cleaves the internal transcribed spacer 1 between 18S and 5.8S rRNAs.

  • RNase MRP: RNase MRP is an enzymatically active ribonucleoprotein with two distinct roles in eukaryotes. In mitochondria it plays a direct role in the initiation of mitochondrial DNA replication. In the nucleus it is involved in precursor rRNA processing, where it cleaves the internal transcribed spacer 1 between 18S and 5.8S rRNAs. Despite distinct functions, RNase MRP has been shown to be evolutionarily related to RNase P. Like eukaryotic RNase P, RNase MRP is not catalytically active without associated protein subunits.

View fRNAdb secondary structures for RMRP

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary and piRNA Summary for RMRP Gene

Genomics for RMRP Gene

Regulatory Elements for RMRP Gene

Genomic Location for RMRP Gene

Start:
35,657,751 bp from pter
End:
35,658,018 bp from pter
Size:
268 bases
Orientation:
Minus strand

Genomic View for RMRP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RMRP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RMRP Gene

ORGUL Member Location for RMRP Gene

ORGUL Member Location for RMRP gene

Proteins for RMRP Gene

Post-translational modifications for RMRP Gene

No Post-translational modifications

No data available for DME Specific Peptides for RMRP Gene

Domains for RMRP Gene

Gene Families for RMRP Gene

HGNC:
  • MISCRNA :ncRNAs / Small misc ncRNAs

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RMRP: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for RMRP Gene

Function for RMRP Gene

Molecular function for RMRP Gene

GENATLAS Biochemistry: endoribonuclease,mitochondrial RNA-processing

Phenotypes for RMRP Gene

MGI mutant phenotypes for RMRP:
inferred from 2 alleles
genes like me logo Genes that share phenotypes with RMRP: view

Animal Models for RMRP Gene

MGI Knock Outs for RMRP:

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targeting and HOMER Transcription for RMRP Gene

Localization for RMRP Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for RMRP Gene

Pathways for RMRP Gene

genes like me logo Genes that share pathways with RMRP: view

Interacting Proteins for RMRP Gene

Gene Ontology (GO) - Biological Process for RMRP Gene

None

Transcripts for RMRP Gene

fRNAdb Secondary structures for RMRP Gene

  • FR089364
  • RF00030;RNase_MRP;AEKP01155072.1/20160-20423

mRNA/cDNA for RMRP Gene

(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for RMRP Gene

No ASD Table

Relevant External Links for RMRP Gene

GeneLoc Exon Structure for
RMRP
ECgene alternative splicing isoforms for
RMRP

Expression for RMRP Gene

mRNA expression in normal human tissues for RMRP Gene

mRNA differential expression in normal tissues according to GTEx for RMRP Gene

This gene is overexpressed in Whole Blood (5.0).
genes like me logo Genes that share expressions with RMRP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein expression and mRNA Expression by UniProt/SwissProt for RMRP Gene

Orthologs for RMRP Gene

This gene was present in the common ancestor of chordates.

Orthologs for RMRP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNase_MRP 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RNase_MRP 36
  • 77 (a)
OneToMany
dog
(Canis familiaris)
Mammalia RNase_MRP 36
  • 78 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rmrp 16
Rmrp 36
  • 76 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia RNase_MRP 36
  • 64 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia RNase_MRP 36
  • 66 (a)
ManyToMany
RNase_MRP 36
  • 41 (a)
ManyToMany
RNase_MRP 36
  • 52 (a)
ManyToMany
RNase_MRP 36
  • 42 (a)
ManyToMany
chicken
(Gallus gallus)
Aves RNase_MRP 36
  • 59 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia RNase_MRP 36
  • 57 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii RNase_MRP 36
  • 53 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea RNase_MRP 36
  • 45 (a)
OneToMany
Species with no ortholog for RMRP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RMRP Gene

ENSEMBL:
Gene Tree for RMRP (if available)
TreeFam:
Gene Tree for RMRP (if available)

Paralogs for RMRP Gene

No data available for Paralogs for RMRP Gene

Variants for RMRP Gene

Structural Variations from Database of Genomic Variants (DGV) for RMRP Gene

Variant ID Type Subtype PubMed ID
dgv8168n71 CNV Gain 21882294

Relevant External Links for RMRP Gene

HapMap Linkage Disequilibrium report
RMRP
Human Gene Mutation Database (HGMD)
RMRP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for RMRP Gene

Disorders for RMRP Gene

(3) OMIM Diseases for RMRP Gene (157660)

(8) Novoseek inferred disease relationships for RMRP Gene

Disease -log(P) Hits PubMed IDs
cartilage-hair hypoplasia 97.8 11
metaphyseal dysplasia 93.7 4
short stature 74.9 2
skeletal dysplasia 61.4 2
hypoplasia 56.1 4
genes like me logo Genes that share disorders with RMRP: view

No data available for UniProtKB/Swiss-Prot for RMRP Gene

Publications for RMRP Gene

  1. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. (PMID: 11207361) RidanpAoAo M. … de la Chapelle A. (Cell 2001) 2 3 23
  2. RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. (PMID: 11940090) BonafAc L. … Superti-Furga A. (Clin. Genet. 2002) 3 23
  3. Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. (PMID: 16244706) BonafAc L. … Reymond A. (PLoS Genet. 2005) 3 23
  4. Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. (PMID: 16252239) Thiel C.T. … Rauch A. (Am. J. Hum. Genet. 2005) 3 23
  5. Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. (PMID: 16832578) Hirose Y. … Ikegawa S. (J. Hum. Genet. 2006) 3 23

Products for RMRP Gene

  • QIAGEN qRT-PCR Assays for microRNAs that regulate RMRP
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for RMRP
    • Block miRNA regulation of RMRP using miScript Target Protectors

    Sources for RMRP Gene

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