Description: Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 2, mRNA. RefSeq Summary (NM_001145861): This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]. Transcript (Including UTRs) Position: hg19 chr8:99,129,521-99,172,069 Size: 42,549 Total Exon Count: 16 Strand: + Coding Region Position: hg19 chr8:99,135,566-99,170,499 Size: 34,934 Coding Exon Count: 15
ID:POP1_HUMAN DESCRIPTION: RecName: Full=Ribonucleases P/MRP protein subunit POP1; Short=hPOP1; EC=3.1.26.5; FUNCTION: Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of RNase MRP. CATALYTIC ACTIVITY: Endonucleolytic cleavage of RNA, removing 5'- extranucleotides from tRNA precursor. SUBUNIT: RNase P consists of a RNA moiety and at least 8 protein subunits; POP1, RPP14, RPP20/POP7, RPP25, RPP29/POP4, RPP30, RPP38 and RPP40. INTERACTION: O95707:POP4; NbExp=2; IntAct=EBI-366741, EBI-366477; SUBCELLULAR LOCATION: Nucleus, nucleolus. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Note=Defects in POP1 may be the cause of a severe skeletal dysplasia reminiscent of anauxetic dysplasia. Affected individuals show severe growth retardation of prenatal onset, a bone dysplasia affecting the epiphyses and metaphyses of the long bones particularly in the lower limbs, and abnormalities of the spine including irregularly shaped vertebral bodies and marked cervical spine instability.
To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): POP1 CDC HuGE Published Literature: POP1 Positive Disease Associations: Body Height
, Prion Diseases Related Studies:
Prion Diseases Simon Mead et al. Human molecular genetics 2012, Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP., Human molecular genetics.
[PubMed 22210626]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q99575
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
