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    POP1 POP1 homolog, ribonuclease P/MRP subunit [ Homo sapiens (human) ]

    Gene ID: 10940, updated on 3-Nov-2024

    Summary

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    Official Symbol
    POP1provided by HGNC
    Official Full Name
    POP1 homolog, ribonuclease P/MRP subunitprovided by HGNC
    Primary source
    HGNC:HGNC:30129
    See related
    Ensembl:ENSG00000104356 MIM:602486; AllianceGenome:HGNC:30129
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ANXD2
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 2.0), appendix (RPKM 1.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See POP1 in Genome Data Viewer
    Location:
    8q22.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (98117293..98159835)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (99242783..99285304)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (99129521..99172063)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19394 Neighboring gene glutamate rich 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27676 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27678 Neighboring gene reactive intermediate imine deaminase A homolog Neighboring gene tRNA-undetermined (NNN) 2-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19395 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:99177852-99179051 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:99179424-99180035 Neighboring gene NIPAL2 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 914, pseudogene Neighboring gene NIPA like domain containing 2 Neighboring gene uncharacterized LOC105375659 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:99271842-99273041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19396 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:99317371-99318570

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia. Abdulhadi-Atwan M, et al. Am J Med Genet A, 2020 May. PMID 32134183
    2. Partially processed pre-rRNA is preserved in association with processing components in nucleolus-derived foci during mitosis. Dundr M, et al. Mol Biol Cell, 1998 Sep. PMID 9725903, Free PMC Article
    3. RNA-protein interactions in the human RNase MRP ribonucleoprotein complex. Pluk H, et al. RNA, 1999 Apr. PMID 10199568, Free PMC Article
    4. Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. Barraza-García J, et al. Clin Genet, 2017 Jul. PMID 28067412
    5. POP1 promotes the progression of breast cancer through maintaining telomere integrity. Zhu M, et al. Carcinogenesis, 2023 May 27. PMID 37010429

    See all (140) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PGC-1alpha inhibits NLRP3 signaling through transcriptional activation of POP1 to alleviate inflammation and strengthen osteogenic differentiation of lipopolysaccharide-induced human periodontal stem cells.
      Title: PGC-1α inhibits NLRP3 signaling through transcriptional activation of POP1 to alleviate inflammation and strengthen osteogenic differentiation of lipopolysaccharide-induced human periodontal stem cells.
    2. POP1 promotes the progression of breast cancer through maintaining telomere integrity.
      Title: POP1 promotes the progression of breast cancer through maintaining telomere integrity.
    3. POP1 inhibits MSU-induced inflammasome activation and ameliorates gout.
      Title: POP1 inhibits MSU-induced inflammasome activation and ameliorates gout.
    4. Clinical significance for diagnosis and prognosis of POP1 and its potential role in breast cancer: a comprehensive analysis based on multiple databases.
      Title: Clinical significance for diagnosis and prognosis of POP1 and its potential role in breast cancer: a comprehensive analysis based on multiple databases.
    5. The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia.
      Title: The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia.
    6. Biallelic POP1 mutations were identified in both. A missense mutation and a novel single base deletion were detected in proband 1, p.[Pro582Ser]:[Glu870fs*5]. Markedly reduced abundance of RMRP and elevated levels of pre5.8s rRNA was observed. In proband 2, a homozygous novel POP1 mutation was identified
      Title: Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
    7. we reported the third case with POP1-related AAD. This phenotype may appropriately be termed AAD type 2.
      Title: Further evidence of POP1 mutations as the cause of anauxetic dysplasia.
    8. by inhibiting inflammasome assembly, provides a regulatory feedback loop that shuts down excessive inflammatory responses; Cryopyrin-Associated Periodic Syndrome patients exhibit reduced expression
      Title: The PYRIN Domain-only Protein POP1 Inhibits Inflammasome Assembly and Ameliorates Inflammatory Disease.
    9. S-palmitoylation alters conformation or secondary structure of Trx1, as well as decreases the ability of Trx1 to transfer electrons from thioredoxin reductase to S-nitrosylated protein-tyrosine phosphatase 1B and S-nitroso-glutathione
      Title: Crystal structure of human POP1 and its distinct structural feature for PYD domain.
    10. Mitochondrial ribonuclease P structure provides insight into the evolution of catalytic strategies for precursor-trna 5' processing.
      Title: Mitochondrial ribonuclease P structure provides insight into the evolution of catalytic strategies for precursor-tRNA 5' processing.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Anauxetic dysplasia 2
    MedGen: C4479357 OMIM: 617396 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0061, MGC17365

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ribonuclease P RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to ribonuclease P activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in tRNA 5'-leader removal IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in tRNA decay IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in tRNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular space HDA PubMed 
    part_of multimeric ribonuclease P complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of nucleolar ribonuclease P complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of nucleolar ribonuclease P complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    part_of ribonuclease MRP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ribonuclease MRP complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ribonucleases P/MRP protein subunit POP1
    Names
    hPOP1
    processing of precursor 1, ribonuclease P/MRP subunit
    processing of precursors 1
    NP_001139332.1
    NP_001139333.1
    NP_055844.2
    XP_011515103.1
    XP_054215586.1
    XP_054215587.1

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_052869.1 RefSeqGene

      Range
      5001..47543
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145860.2 → NP_001139332.1  ribonucleases P/MRP protein subunit POP1

      See identical proteins and their annotated locations for NP_001139332.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK291434, AP003439, BF511088, D31765, X99302
      Consensus CDS
      CCDS6277.1
      UniProtKB/Swiss-Prot
      A8K5W9, Q15037, Q99575
      UniProtKB/TrEMBL
      Q96F88
      Related
      ENSP00000385787.2, ENST00000401707.7
      Conserved Domains (2) summary
      pfam06978
      Location:107 → 257
      POP1; Ribonucleases P/MRP protein subunit POP1
      pfam08170
      Location:617 → 708
      POPLD; POPLD (NUC188) domain

    2. NM_001145861.2 → NP_001139333.1  ribonucleases P/MRP protein subunit POP1

      See identical proteins and their annotated locations for NP_001139333.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK291434, AP003439, BF511088, BP249298, BP280616, D31765
      Consensus CDS
      CCDS6277.1
      UniProtKB/Swiss-Prot
      A8K5W9, Q15037, Q99575
      UniProtKB/TrEMBL
      Q96F88
      Conserved Domains (2) summary
      pfam06978
      Location:107 → 257
      POP1; Ribonucleases P/MRP protein subunit POP1
      pfam08170
      Location:617 → 708
      POPLD; POPLD (NUC188) domain

    3. NM_015029.3 → NP_055844.2  ribonucleases P/MRP protein subunit POP1

      See identical proteins and their annotated locations for NP_055844.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AP003439, BC011529, BF511088, D31765
      Consensus CDS
      CCDS6277.1
      UniProtKB/Swiss-Prot
      A8K5W9, Q15037, Q99575
      UniProtKB/TrEMBL
      Q96F88
      Related
      ENSP00000339529.3, ENST00000349693.3
      Conserved Domains (2) summary
      pfam06978
      Location:107 → 257
      POP1; Ribonucleases P/MRP protein subunit POP1
      pfam08170
      Location:617 → 708
      POPLD; POPLD (NUC188) domain

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      98117293..98159835
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516801.3 → XP_011515103.1  ribonucleases P/MRP protein subunit POP1 isoform X1

      Conserved Domains (1) summary
      pfam06978
      Location:107 → 257
      POP1; Ribonucleases P/MRP protein subunit POP1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      99242783..99285304
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359612.1 → XP_054215587.1  ribonucleases P/MRP protein subunit POP1 isoform X1

    2. XM_054359611.1 → XP_054215586.1  ribonucleases P/MRP protein subunit POP1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99575.2 GenPept UniProtKB/Swiss-Prot:Q99575

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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