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

Aliases for RPP14 Gene

Aliases for RPP14 Gene

  • Ribonuclease P/MRP Subunit P14 2 3 5
  • 3-Hydroxyacyl-[Acyl-Carrier-Protein] Dehydratase 3 4
  • Ribonuclease P/MRP 14kDa Subunit 2 3
  • EC 4.2.1.- 4 4
  • HsHTD2 3 4
  • Hydroxyacyl-Thioester Dehydratase Type 2, Mitochondrial 3
  • Ribonuclease P Protein Subunit P14 3
  • Ribonuclease P 14kDa Subunit 2
  • EC 3.1.26.5 4
  • P14 3

External Ids for RPP14 Gene

Previous GeneCards Identifiers for RPP14 Gene

  • GC03M057092
  • GC03P057660
  • GC03P058146
  • GC03P058249
  • GC03P058224
  • GC03P058267

Summaries for RPP14 Gene

GeneCards Summary for RPP14 Gene

RPP14 (Ribonuclease P/MRP Subunit P14) is a Protein Coding gene. Diseases associated with RPP14 include Immunodeficiency Due To Defect In Mapbp-Interacting Protein. Among its related pathways are palmitate biosynthesis and tRNA processing. GO annotations related to this gene include RNA binding and ribonuclease P activity.

UniProtKB/Swiss-Prot for RPP14 Gene

  • Mitochondrial 3-hydroxyacyl-thioester dehydratase, which may be involved in fatty acid biosynthesis.

  • Part of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5-ends.

Gene Wiki entry for RPP14 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPP14 Gene

Genomics for RPP14 Gene

Regulatory Elements for RPP14 Gene

Enhancers for RPP14 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around RPP14 on UCSC Golden Path with GeneCards custom track

Promoters for RPP14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for RPP14 Gene

Chromosome:
3
Start:
58,306,245 bp from pter
End:
58,324,695 bp from pter
Size:
18,451 bases
Orientation:
Plus strand

Genomic View for RPP14 Gene

Genes around RPP14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPP14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPP14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPP14 Gene

Proteins for RPP14 Gene

  • Protein details for RPP14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95059-RPP14_HUMAN
    Recommended name:
    Ribonuclease P protein subunit p14
    Protein Accession:
    O95059
    Secondary Accessions:
    • Q53X97

    Protein attributes for RPP14 Gene

    Size:
    124 amino acids
    Molecular mass:
    13693 Da
    Quaternary structure:
    • RNase P consists of an RNA moiety and at least 8 protein subunits; POP1, RPP14, RPP20/POP7, RPP25, RPP29/POP4, RPP30, RPP38 and RPP40.
    Miscellaneous:
    • This protein is produced by a bicistronic gene which also produces the HTD2 protein from an overlapping reading frame.
  • Protein details for RPP14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P86397-HTD2_HUMAN
    Recommended name:
    Hydroxyacyl-thioester dehydratase type 2, mitochondrial
    Protein Accession:
    P86397

    Protein attributes for RPP14 Gene

    Size:
    168 amino acids
    Molecular mass:
    18559 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • This protein is produced by a bicistronic gene which also produces the RPP14 protein from an overlapping reading frame.

    Three dimensional structures from OCA and Proteopedia for RPP14 Gene

neXtProt entry for RPP14 Gene

Post-translational modifications for RPP14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RPP14 Gene

No data available for DME Specific Peptides for RPP14 Gene

Domains & Families for RPP14 Gene

Protein Domains for RPP14 Gene

Suggested Antigen Peptide Sequences for RPP14 Gene

Graphical View of Domain Structure for InterPro Entry

P86397

UniProtKB/Swiss-Prot:

HTD2_HUMAN :
  • Contains 1 MaoC-like domain.
  • Belongs to the HTD2 family.
Domain:
  • Contains 1 MaoC-like domain.
Family:
  • Belongs to the HTD2 family.
  • Belongs to the eukaryotic/archaeal RNase P protein component 2 family.
genes like me logo Genes that share domains with RPP14: view

No data available for Gene Families for RPP14 Gene

Function for RPP14 Gene

Molecular function for RPP14 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
(3R)-hydroxyacyl-CoA = trans-2-enoyl-CoA + H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity:
(3R)-hydroxyacyl-[acyl-carrier-protein] = trans-2-enoyl-[acyl-carrier-protein] + H(2)O.
UniProtKB/Swiss-Prot Function:
Mitochondrial 3-hydroxyacyl-thioester dehydratase, which may be involved in fatty acid biosynthesis.
UniProtKB/Swiss-Prot CatalyticActivity:
Endonucleolytic cleavage of RNA, removing 5-extranucleotides from tRNA precursor.
UniProtKB/Swiss-Prot Function:
Part of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5-ends.

Enzyme Numbers (IUBMB) for RPP14 Gene

Gene Ontology (GO) - Molecular Function for RPP14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with RPP14: view

Phenotypes for RPP14 Gene

GenomeRNAi human phenotypes for RPP14:
genes like me logo Genes that share phenotypes with RPP14: view

Animal Model Products

CRISPR Products

miRNA for RPP14 Gene

miRTarBase miRNAs that target RPP14

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RPP14 Gene

Localization for RPP14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPP14 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RPP14 Gene COMPARTMENTS Subcellular localization image for RPP14 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for RPP14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with RPP14: view

Pathways & Interactions for RPP14 Gene

genes like me logo Genes that share pathways with RPP14: view

Pathways by source for RPP14 Gene

Gene Ontology (GO) - Biological Process for RPP14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006631 fatty acid metabolic process IEA --
genes like me logo Genes that share ontologies with RPP14: view

No data available for SIGNOR curated interactions for RPP14 Gene

Drugs & Compounds for RPP14 Gene

(1) Drugs for RPP14 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
genes like me logo Genes that share compounds with RPP14: view

Transcripts for RPP14 Gene

Unigene Clusters for RPP14 Gene

Ribonuclease P/MRP 14kDa subunit:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPP14 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f · 9g
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - - - - - -
SP6: - - - - - -
SP7: - - - - -
SP8: - -
SP9: - - - - - -
SP10: - - - - - - - - -

Relevant External Links for RPP14 Gene

GeneLoc Exon Structure for
RPP14
ECgene alternative splicing isoforms for
RPP14

Expression for RPP14 Gene

mRNA expression in normal human tissues for RPP14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RPP14 Gene

This gene is overexpressed in Urine (39.0) and Breast (20.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RPP14 Gene



Protein tissue co-expression partners for RPP14 Gene

NURSA nuclear receptor signaling pathways regulating expression of RPP14 Gene:

RPP14

SOURCE GeneReport for Unigene cluster for RPP14 Gene:

Hs.446320

mRNA Expression by UniProt/SwissProt for RPP14 Gene:

O95059-RPP14_HUMAN
Tissue specificity: Highly expressed in heart and liver. Expressed at lower levels in skeletal muscle, spleen, kidney and placenta.
genes like me logo Genes that share expression patterns with RPP14: view

Primer Products

No data available for mRNA differential expression in normal tissues for RPP14 Gene

Orthologs for RPP14 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RPP14 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RPP14 34
  • 90.32 (n)
  • 92.74 (a)
RPP14 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RPP14 34
  • 90.86 (n)
  • 92.74 (a)
RPP14 35
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rpp14 34
  • 82.92 (n)
  • 85.95 (a)
Rpp14 16
Rpp14 35
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RPP14 34
  • 99.19 (n)
  • 100 (a)
RPP14 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rpp14 34
  • 83.2 (n)
  • 84.3 (a)
oppossum
(Monodelphis domestica)
Mammalia RPP14 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RPP14 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves RPP14 35
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RPP14 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rpp14 34
  • 63.66 (n)
  • 65.57 (a)
Str.2080 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.8204 34
zebrafish
(Danio rerio)
Actinopterygii rpp14 34
  • 60.68 (n)
  • 61.54 (a)
rpp14 35
  • 58 (a)
OneToOne
Species where no ortholog for RPP14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RPP14 Gene

ENSEMBL:
Gene Tree for RPP14 (if available)
TreeFam:
Gene Tree for RPP14 (if available)

Paralogs for RPP14 Gene

No data available for Paralogs for RPP14 Gene

Variants for RPP14 Gene

Sequence variations from dbSNP and Humsavar for RPP14 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1427 -- 58,312,228(-) CCTCA(A/C)ACACT intron-variant
rs10687 -- 58,319,508(+) GACCA(G/T)TTTTT nc-transcript-variant, utr-variant-3-prime
rs10940 -- 58,319,414(-) AGTAG(C/T)TACTG nc-transcript-variant, utr-variant-3-prime
rs12688 -- 58,319,352(+) TGCCA(C/T)GTGGG nc-transcript-variant, utr-variant-3-prime
rs14927 -- 58,319,306(+) GTCTC(A/C)GTTAT nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for RPP14 Gene

Variant ID Type Subtype PubMed ID
dgv4748n100 CNV gain 25217958
esv3568768 CNV loss 25503493
nsv1001814 CNV gain 25217958
nsv1127962 CNV deletion 24896259
nsv528147 CNV gain 19592680
nsv590369 CNV loss 21841781

Variation tolerance for RPP14 Gene

Residual Variation Intolerance Score: 84.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.87; 48.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RPP14 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPP14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPP14 Gene

Disorders for RPP14 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RPP14 Gene - From: OMIM

Disorder Aliases PubMed IDs
immunodeficiency due to defect in mapbp-interacting protein
  • primary immunodeficiency syndrome due to p14 deficiency
- elite association - COSMIC cancer census association via MalaCards
Search RPP14 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RPP14

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RPP14
genes like me logo Genes that share disorders with RPP14: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RPP14 Gene

Publications for RPP14 Gene

  1. Rpp14 and Rpp29, two protein subunits of human ribonuclease P. (PMID: 10024167) Jarrous N. … Altman S. (RNA 1999) 2 3 4 22 65
  2. A protein subunit of human RNase P, Rpp14, and its interacting partner, OIP2, have 3'-->5' exoribonuclease activity. (PMID: 11929972) Jiang T. … Altman S. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 22 65
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 65

Products for RPP14 Gene

Sources for RPP14 Gene

Content
Loading form....