Aliases for POP5 Gene

Aliases for POP5 Gene

  • POP5 Homolog, Ribonuclease P/MRP Subunit 2 3 5
  • Ribonuclease P/MRP Protein Subunit POP5 3 4
  • HPop5 3 4
  • Processing Of Precursor 5, Ribonuclease P/MRP Subunit (S. Cerevisiae) 2
  • Processing Of Precursor 5, Ribonuclease P/MRP Subunit 3
  • EC 3.1.26.5 4
  • HSPC004 3
  • RPP20 3
  • RPP2 3
  • POP5 5

External Ids for POP5 Gene

Previous GeneCards Identifiers for POP5 Gene

  • GC12M119898
  • GC12M120614
  • GC12M120800
  • GC12M119428
  • GC12M119479
  • GC12M121016
  • GC12M118026

Summaries for POP5 Gene

GeneCards Summary for POP5 Gene

POP5 (POP5 Homolog, Ribonuclease P/MRP Subunit) is a Protein Coding gene. Diseases associated with POP5 include Cartilage-Hair Hypoplasia and Branchiootic Syndrome. Among its related pathways are tRNA processing and Ribosome biogenesis in eukaryotes. Gene Ontology (GO) annotations related to this gene include ribonuclease activity and ribonuclease P activity.

UniProtKB/Swiss-Prot Summary for POP5 Gene

  • Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:11413139, PubMed:30454648). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed:28115465).

Gene Wiki entry for POP5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POP5 Gene

Genomics for POP5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POP5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J120580 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -0.1 -149 3.2 TBP SP1 MXD4 NR2C1 MNT DEK SMAD5 ZFP64 MBD2 ZNF217 POP5 lnc-COQ5-2 COQ5 GATC HNF1A-AS1 MLEC UNC119B C12orf43 ACADS ENSG00000256569
GH12J120533 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 11.5 +44.2 44228 7.2 ZSCAN16 TBP MXD4 FEZF1 CEBPA SIX5 MNT IKZF1 SMAD5 ETS1 RNF10 COQ5 GATC CABP1 POP5 RPL31P52 TRIAP1 ENSG00000111780 SPPL3 ENSG00000256569
GH12J120584 Promoter/Enhancer 1.2 Ensembl ENCODE 0.7 -3.1 -3148 1.2 BCL11A CTCF ZIC2 REST SAP130 ZNF341 SMC3 SP2 ZFP91 ADNP COQ5 GATC HNF1A-AS1 MLEC UNC119B C12orf43 ENSG00000256569 ACADS OASL DYNLL1
GH12J120583 Promoter/Enhancer 1.1 Ensembl ENCODE 0.7 -2.1 -2088 0.5 ZBTB10 CTCF REST ZNF740 VEZF1 TRIM22 SAP130 SMC3 RAD21 ADNP COQ5 GATC HNF1A-AS1 MLEC UNC119B C12orf43 ACADS ENSG00000256569 OASL DYNLL1
GH12J120549 Enhancer 1.1 Ensembl ENCODE 0.3 +30.1 30052 3.2 MXD4 CEBPA IKZF1 HOMEZ KDM6A THAP11 FOXA2 ZNF511 SMAD4 SAP130 COQ5 GATC COX6A1 RPL29P24 NRAV DYNLL1 SRSF9 RPL31P52 TRIAP1 ENSG00000111780
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POP5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POP5

Top Transcription factor binding sites by QIAGEN in the POP5 gene promoter:
  • c-Ets-1
  • c-Myc
  • Max1

Genomic Locations for POP5 Gene

Latest Assembly
chr12:120,578,764-120,581,452
(GRCh38/hg38)
Size:
2,689 bases
Orientation:
Minus strand

Previous Assembly
chr12:121,016,567-121,019,205
(GRCh37/hg19 by Entrez Gene)
Size:
2,639 bases
Orientation:
Minus strand

chr12:121,016,567-121,019,201
(GRCh37/hg19 by Ensembl)
Size:
2,635 bases
Orientation:
Minus strand

Genomic View for POP5 Gene

Genes around POP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POP5 Gene

Proteins for POP5 Gene

  • Protein details for POP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969H6-POP5_HUMAN
    Recommended name:
    Ribonuclease P/MRP protein subunit POP5
    Protein Accession:
    Q969H6
    Secondary Accessions:
    • A6NL80
    • Q53FS5
    • Q9Y2Q6

    Protein attributes for POP5 Gene

    Size:
    163 amino acids
    Molecular mass:
    18820 Da
    Quaternary structure:
    • Component of nuclear RNase P and RNase MRP ribonucleoproteins (PubMed:11413139, PubMed:15096576, PubMed:16723659, PubMed:30454648). RNase P consists of a catalytic RNA moiety and 10 different protein chains; POP1, POP4, POP5, POP7, RPP14, RPP21, RPP25, RPP30, RPP38 and RPP40 (PubMed:11413139, PubMed:15096576, PubMed:16723659, PubMed:30454648). Within the RNase P complex, POP1, POP7 and RPP25 form the 'finger' subcomplex, POP5, RPP14, RPP40 and homodimeric RPP30 form the 'palm' subcomplex, and RPP21, POP4 and RPP38 form the 'wrist' subcomplex. All subunits of the RNase P complex interact with the catalytic RNA (PubMed:30454648). Several subunits of RNase P are also part of the RNase MRP complex. RNase MRP consists of a catalytic RNA moiety and about 8 protein subunits; POP1, POP7, RPP25, RPP30, RPP38, RPP40 and possibly also POP4 and POP5 (PubMed:11413139, PubMed:15096576, PubMed:16723659).
    Miscellaneous:
    • The last C-terminal 19 amino acids are not required for complex association and RNase activity.

    Three dimensional structures from OCA and Proteopedia for POP5 Gene

    Alternative splice isoforms for POP5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POP5 Gene

Post-translational modifications for POP5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POP5 Gene

No data available for DME Specific Peptides for POP5 Gene

Domains & Families for POP5 Gene

Gene Families for POP5 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for POP5 Gene

InterPro:
Blocks:
  • Ribonuclease P-related protein
ProtoNet:

Suggested Antigen Peptide Sequences for POP5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50319, highly similar to Homo sapiens processing of 5, ribonuclease P/MRP subunit, transcript variant 3, mRNA (A6NL80_HUMAN)
  • Ribonuclease P/MRP protein subunit POP5 (POP5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q969H6

UniProtKB/Swiss-Prot:

POP5_HUMAN :
  • Belongs to the eukaryotic/archaeal RNase P protein component 2 family.
Family:
  • Belongs to the eukaryotic/archaeal RNase P protein component 2 family.
genes like me logo Genes that share domains with POP5: view

Function for POP5 Gene

Molecular function for POP5 Gene

UniProtKB/Swiss-Prot Function:
Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:11413139, PubMed:30454648). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed:28115465).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Endonucleolytic cleavage of RNA, removing 5'-extranucleotides from tRNA precursor.; EC=3.1.26.5; Evidence={ECO:0000269|PubMed:11413139, ECO:0000269|PubMed:30454648};.

Enzyme Numbers (IUBMB) for POP5 Gene

Phenotypes From GWAS Catalog for POP5 Gene

Gene Ontology (GO) - Molecular Function for POP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0004526 contributes_to ribonuclease P activity IBA,IDA 16723659
GO:0004540 ribonuclease activity IEA --
GO:0005515 protein binding IPI 15096576
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with POP5: view
genes like me logo Genes that share phenotypes with POP5: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POP5

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POP5 Gene

Localization for POP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POP5 Gene

Nucleus, nucleolus.

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 POP5 gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 1
mitochondrion 1
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000172 ribonuclease MRP complex IBA,IDA 16723659
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005655 nucleolar ribonuclease P complex IEA,IBA 21873635
GO:0005730 nucleolus IEA,IDA 11413139
genes like me logo Genes that share ontologies with POP5: view

Pathways & Interactions for POP5 Gene

genes like me logo Genes that share pathways with POP5: view

Pathways by source for POP5 Gene

Gene Ontology (GO) - Biological Process for POP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001682 tRNA 5'-leader removal TAS --
GO:0006364 rRNA processing IBA 21873635
GO:0008033 tRNA processing IBA 21873635
GO:0016070 RNA metabolic process IEA --
GO:0090501 RNA phosphodiester bond hydrolysis IEA --
genes like me logo Genes that share ontologies with POP5: view

No data available for SIGNOR curated interactions for POP5 Gene

Drugs & Compounds for POP5 Gene

No Compound Related Data Available

Transcripts for POP5 Gene

mRNA/cDNA for POP5 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POP5

Alternative Splicing Database (ASD) splice patterns (SP) for POP5 Gene

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

Relevant External Links for POP5 Gene

GeneLoc Exon Structure for
POP5

Expression for POP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POP5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for POP5 Gene

This gene is overexpressed in Lung (38.3), CD4 Tcells (7.9), Fetal ovary (6.8), and Fetal testis (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POP5 Gene



Protein tissue co-expression partners for POP5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POP5

SOURCE GeneReport for Unigene cluster for POP5 Gene:

Hs.279913

Evidence on tissue expression from TISSUES for POP5 Gene

  • Blood(4.3)
  • Adrenal gland(4.3)
  • Kidney(4.3)
  • Skin(2.3)
genes like me logo Genes that share expression patterns with POP5: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for POP5 Gene

Orthologs for POP5 Gene

This gene was present in the common ancestor of animals.

Orthologs for POP5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia POP5 30 31
  • 99.18 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia POP5 30 31
  • 89.16 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia POP5 30 31
  • 88.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pop5 30
  • 86.71 (n)
Mouse
(Mus musculus)
Mammalia Pop5 30 17 31
  • 85.36 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia POP5 31
  • 72 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia POP5 31
  • 51 (a)
OneToOne
Chicken
(Gallus gallus)
Aves POP5 30 31
  • 66.17 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia POP5 31
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pop5 30
  • 64.38 (n)
Str.19320 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.4975 30
Zebrafish
(Danio rerio)
Actinopterygii pop5 30 31
  • 58.73 (n)
OneToOne
wufc69d03 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG14057 31
  • 30 (a)
OneToOne
Species where no ortholog for POP5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (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 POP5 Gene

ENSEMBL:
Gene Tree for POP5 (if available)
TreeFam:
Gene Tree for POP5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POP5: view image

Paralogs for POP5 Gene

No data available for Paralogs for POP5 Gene

Variants for POP5 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for POP5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for POP5 Gene

Variant ID Type Subtype PubMed ID
nsv906 CNV deletion 18451855
nsv907 CNV insertion 18451855

Variation tolerance for POP5 Gene

Residual Variation Intolerance Score: 47.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.42; 27.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POP5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POP5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POP5 Gene

Disorders for POP5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for POP5 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
cartilage-hair hypoplasia
  • chh
branchiootic syndrome
  • bo syndrome
griscelli syndrome, type 3
  • gs3
- elite association - COSMIC cancer census association via MalaCards
Search POP5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for POP5

genes like me logo Genes that share disorders with POP5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POP5 Gene

Publications for POP5 Gene

  1. hPop5, a protein subunit of the human RNase MRP and RNase P endoribonucleases. (PMID: 11413139) van Eenennaam H … Pruijn GJ (The Journal of biological chemistry 2001) 2 3 4
  2. Cryo-EM Structure of the Human Ribonuclease P Holoenzyme. (PMID: 30454648) Wu J … Lei M (Cell 2018) 3 4
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  4. Differential association of protein subunits with the human RNase MRP and RNase P complexes. (PMID: 16723659) Welting TJ … Pruijn GJ (RNA (New York, N.Y.) 2006) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for POP5 Gene

Sources for POP5 Gene