Free for academic non-profit institutions. Other users need a Commercial license

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 5
  • Cartilage-Hair Hypoplasia 2
  • RMRPR 3
  • RRP2 3
  • NME1 3
  • CHH 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 Anauxetic Dysplasia and Cartilage-Hair Hypoplasia. Among its related pathways are Ribosome biogenesis in eukaryotes.

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 CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary and piRNA Summary for RMRP Gene

Genomics for RMRP Gene

Regulatory Elements for RMRP Gene


Promoters for RMRP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000234663 -282 1801 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263
ENSR00000234663 -282 1801 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263

Genomic Location for RMRP Gene

Chromosome:
9
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

Genes around RMRP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RMRP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families for RMRP Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , 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

Human Phenotype Ontology for RMRP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

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

Localization for RMRP Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RMRP gene
Compartment Confidence
mitochondrion 1
nucleus 1

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

Pathways & Interactions for RMRP Gene

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

Pathways by source for RMRP Gene

1 KEGG pathway for RMRP Gene

Interacting Proteins for RMRP Gene

Gene Ontology (GO) - Biological Process for RMRP Gene

None

No data available for SIGNOR curated interactions for RMRP Gene

Transcripts for RMRP Gene

fRNAdb Secondary structures for RMRP Gene

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

mRNA/cDNA for RMRP Gene

(1) 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for RMRP Gene

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

This gene is overexpressed in Whole Blood (x5.0).

NURSA nuclear receptor signaling pathways regulating expression of RMRP Gene:

RMRP

Phenotype-based relationships between genes and organs from Gene ORGANizer for RMRP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
  • trachea
Abdomen:
  • intestine
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with RMRP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES 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 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RNase_MRP 35
  • 78 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RNase_MRP 35
  • 77 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rmrp 35
  • 76 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia RNase_MRP 35 35 35 35
  • 66 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia RNase_MRP 35
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves RNase_MRP 35
  • 59 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia RNase_MRP 35
  • 57 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii RNase_MRP 35
  • 53 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea RNase_MRP 35
  • 45 (a)
OneToMany
Species where no ortholog for RMRP was found in the sources mined by GeneCards:
  • 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

Sequence variations from dbSNP and Humsavar for RMRP Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs199476103 Pathogenic 35,657,948(-) AGGGG(A/G)AAGTC nc-transcript-variant, upstream-variant-2KB
rs727502774 Pathogenic 35,657,756(-) AGCGC(A/G/T)GCTGT nc-transcript-variant, upstream-variant-2KB
rs727502775 Pathogenic 35,658,030(-) ATACT(-/TACTCTGTGA/TCTGTGA)AAGCT upstream-variant-2KB
rs727502776 Pathogenic 35,658,027(-) AAATA(-/ACTACTCTGTGAAGC)CTGAG upstream-variant-2KB
rs727502777 Pathogenic 35,658,023(-) CTGAG(-/CCTGAG/TACTCTGTGAAGCTGAG)GACGT upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv1125318 OTHER inversion 24896259

Relevant External Links for RMRP Gene

Human Gene Mutation Database (HGMD)
RMRP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RMRP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for RMRP Gene

Disorders for RMRP Gene

MalaCards: The human disease database

(10) MalaCards diseases for RMRP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
anauxetic dysplasia
  • spondylometaepiphyseal dysplasia anauxetic type
cartilage-hair hypoplasia
  • mckusick type metaphyseal chondrodysplasia
metaphyseal dysplasia without hypotrichosis
  • cartilage-hair hypoplasia variant, skeletal manifestations only
omenn syndrome
  • combined immunodeficiency with hypereosinophilia
cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders
  • cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders
- elite association - COSMIC cancer census association via MalaCards
Search RMRP in MalaCards View complete list of genes associated with diseases

Relevant External Links for RMRP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RMRP
genes like me logo Genes that share disorders with RMRP: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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) 1 2 3 22 64
  2. An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA. (PMID: 19701182) Maida Y. … Masutomi K. (Nature 2009) 3 22 64
  3. Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. (PMID: 17701897) Thiel C.T. … Rauch A. (Am. J. Hum. Genet. 2007) 3 22 64
  4. Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. (PMID: 17937437) Nakashima E. … Schlessinger D. (Am. J. Med. Genet. A 2007) 3 22 64
  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 22 64

Products for RMRP Gene

Sources for RMRP Gene

Content
Loading form....