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

Gene ID: 10940, updated on 11-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (98117293..98159835)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (99242783..99285304)
105.20220307 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
  • 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. POP1 promotes the progression of breast cancer through maintaining telomere integrity. Zhu M, et al. Carcinogenesis, 2023 May 27. PMID 37010429
  2. Clinical significance for diagnosis and prognosis of POP1 and its potential role in breast cancer: a comprehensive analysis based on multiple databases. He X, et al. Aging (Albany NY), 2022 Sep 9. PMID 36084948, Free PMC Article
  3. 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
  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. Further evidence of POP1 mutations as the cause of anauxetic dysplasia. Elalaoui SC, et al. Am J Med Genet A, 2016 Sep. PMID 27380734

See all (124) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. POP1 promotes the progression of breast cancer through maintaining telomere integrity.
    Title: POP1 promotes the progression of breast cancer through maintaining telomere integrity.
  2. POP1 inhibits MSU-induced inflammasome activation and ameliorates gout.
    Title: POP1 inhibits MSU-induced inflammasome activation and ameliorates gout.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Data idenified two cleavage sites for RNase MRP/RNase P in the coding sequence of viperin mRNA.
    Title: Viperin mRNA is a novel target for the human RNase MRP/RNase P endoribonuclease.
Submit: New GeneRIF Correction See all GeneRIFs (13)

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
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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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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_2023_10

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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