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    PRORP protein only RNase P catalytic subunit [ Homo sapiens (human) ]

    Gene ID: 9692, updated on 27-Nov-2024

    Summary

    Official Symbol
    PRORPprovided by HGNC
    Official Full Name
    protein only RNase P catalytic subunitprovided by HGNC
    Primary source
    HGNC:HGNC:19958
    See related
    Ensembl:ENSG00000100890 MIM:609947; AllianceGenome:HGNC:19958
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MRPP3; COXPD54; KIAA0391
    Summary
    Enables ribonuclease P activity. Involved in mitochondrial tRNA 5'-end processing. Located in mitochondrion and nucleoplasm. Part of mitochondrial ribonuclease P complex. Implicated in combined oxidative phosphorylation deficiency 54. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 10.2), kidney (RPKM 8.4) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PRORP in Genome Data Viewer
    Location:
    14q13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (35121839..35277622)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (29318793..29465226)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (35591045..35746828)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:35451517-35452218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8259 Neighboring gene signal recognition particle 54 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8260 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8262 Neighboring gene family with sequence similarity 177 member A1 Neighboring gene uncharacterized LOC101927178 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:35571935-35572102 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:35581755-35582536 Neighboring gene protein phosphatase 2 regulatory subunit B''gamma Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:35590400-35591599 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:35591739-35592658 Neighboring gene PRORP-PSMA6 readthrough Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:35622091-35622592 Neighboring gene Sharpr-MPRA regulatory region 10139 Neighboring gene ribosomal protein L23a pseudogene 70 Neighboring gene septin 7 pseudogene 1 Neighboring gene mitochondrial ribosomal protein L57 pseudogene 8 Neighboring gene divergent-paired related homeobox pseudogene 3 Neighboring gene ribosomal protein L7a pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8268 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:35761289-35761875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8271 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8272 Neighboring gene ribosomal protein L9 pseudogene 3 Neighboring gene proteasome 20S subunit alpha 6 Neighboring gene Sharpr-MPRA regulatory region 8744 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:35801329-35802250 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:35802261-35802870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:35805755-35806276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8273 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:35811147-35812003 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:35816286-35816830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8275 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:35836533-35837122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:35837123-35837710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:35837711-35838299 Neighboring gene CRISPRi-validated cis-regulatory element chr14.550 Neighboring gene Sharpr-MPRA regulatory region 4470 Neighboring gene PSMA6-RPLP0P3 intergenic CAGE-defined low expression enhancer Neighboring gene ribosomal protein lateral stalk subunit P0 pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Combined oxidative phosphorylation deficiency 54
    MedGen: C5676912 OMIM: 619737 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-wide association analysis identifies three psoriasis susceptibility loci.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough PRORP-PSMA6

    Readthrough gene: PRORP-PSMA6, Included gene: PSMA6

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ribonuclease P activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ribonuclease P activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial tRNA 5'-end processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial tRNA 5'-end processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in tRNA 5'-leader removal IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial nucleoid IEA
    Inferred from Electronic Annotation
    more info
     
    part_of mitochondrial ribonuclease P complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of mitochondrial ribonuclease P complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of mitochondrial ribonuclease P complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of mitochondrial ribonuclease P complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    mitochondrial ribonuclease P catalytic subunit
    Names
    mitochondrial RNase P protein 3
    mitochondrial RNase P subunit 3
    mitochondrial ribonuclease P protein 3
    proteinaceous RNase P
    NP_001243607.1
    NP_001243608.1
    NP_001243609.1
    NP_001243610.1
    NP_001401432.1
    NP_055487.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001256678.2NP_001243607.1  mitochondrial ribonuclease P catalytic subunit isoform 2

      See identical proteins and their annotated locations for NP_001243607.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AB002389, AK304066, AL121594, DA459368
      Consensus CDS
      CCDS58312.1
      UniProtKB/Swiss-Prot
      O15091
      Related
      ENSP00000250377.8, ENST00000250377.11
      Conserved Domains (2) summary
      sd00004
      Location:174204
      PPR; PPR repeat [structural motif]
      pfam16953
      Location:328562
      PRORP; Protein-only RNase P
    2. NM_001256679.2NP_001243608.1  mitochondrial ribonuclease P catalytic subunit isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AI431599, AK301931, AL121594, BP373829
      Consensus CDS
      CCDS58313.1
      UniProtKB/Swiss-Prot
      O15091
      Related
      ENSP00000474620.1, ENST00000604948.5
      Conserved Domains (2) summary
      sd00004
      Location:79109
      PPR; PPR repeat [structural motif]
      pfam16953
      Location:247483
      PRORP; Protein-only RNase P
    3. NM_001256680.2NP_001243609.1  mitochondrial ribonuclease P catalytic subunit isoform 4

      See identical proteins and their annotated locations for NP_001243609.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 4 and 5 encode the same isoform (4), which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AA838769, AL121594, BX161487, DC404874
      Consensus CDS
      CCDS58314.1
      UniProtKB/TrEMBL
      A0A0A0MTQ0
      Related
      ENSP00000474299.1, ENST00000605870.5
      Conserved Domains (1) summary
      pfam16953
      Location:1206
      PRORP; Protein-only RNase P
    4. NM_001256681.2NP_001243610.1  mitochondrial ribonuclease P catalytic subunit isoform 4

      See identical proteins and their annotated locations for NP_001243610.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 4 and 5 encode the same isoform (4), which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AI431599, AL121594, BQ063741, DC404874, DT217089
      Consensus CDS
      CCDS58314.1
      UniProtKB/TrEMBL
      A0A0A0MTQ0
      Related
      ENSP00000324697.9, ENST00000321130.14
      Conserved Domains (1) summary
      pfam16953
      Location:1206
      PRORP; Protein-only RNase P
    5. NM_001414503.1NP_001401432.1  mitochondrial ribonuclease P catalytic subunit isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AL121594
      UniProtKB/Swiss-Prot
      B4DXD9, B4E0S8, B4E211, C4AM93, D3DS99, D3DSA1, O15091, Q86SZ4, Q86YB5, Q8N5L5
    6. NM_014672.4NP_055487.2  mitochondrial ribonuclease P catalytic subunit isoform 1 precursor

      See identical proteins and their annotated locations for NP_055487.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 6 both encode the same isoform (1).
      Source sequence(s)
      AA838769, AL121594, BX161394, DA459368
      Consensus CDS
      CCDS32063.1
      UniProtKB/Swiss-Prot
      B4DXD9, B4E0S8, B4E211, C4AM93, D3DS99, D3DSA1, O15091, Q86SZ4, Q86YB5, Q8N5L5
      Related
      ENSP00000440915.2, ENST00000534898.9
      Conserved Domains (2) summary
      sd00004
      Location:174204
      PPR; PPR repeat [structural motif]
      pfam16953
      Location:342578
      PRORP; Protein-only RNase P

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      35121839..35277622
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      29318793..29465226
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)