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 ... See more...

Aliases for POP1 Gene

Aliases for POP1 Gene

  • POP1 Homolog, Ribonuclease P/MRP Subunit 2 3 5
  • Ribonucleases P/MRP Protein Subunit POP1 3 4
  • Processing Of Precursors 1 2 3
  • HPOP1 3 4
  • Processing Of Precursor 1, Ribonuclease P/MRP Subunit (S. Cerevisiae) 2
  • Processing Of Precursor 1, Ribonuclease P/MRP Subunit 3
  • EC 3.1.26.5 4
  • KIAA0061 4
  • ANXD2 3

External Ids for POP1 Gene

Previous GeneCards Identifiers for POP1 Gene

  • GC08U990080
  • GC08P099204
  • GC08P098798
  • GC08P099086
  • GC08P099199
  • GC08P099129
  • GC08P094333

Summaries for POP1 Gene

Entrez Gene Summary for POP1 Gene

  • 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]

GeneCards Summary for POP1 Gene

POP1 (POP1 Homolog, Ribonuclease P/MRP Subunit) is a Protein Coding gene. Diseases associated with POP1 include Anauxetic Dysplasia 2 and Anauxetic Dysplasia 1. Among its related pathways are tRNA processing and Gene Expression. Gene Ontology (GO) annotations related to this gene include ribonuclease MRP activity. An important paralog of this gene is SERAC1.

UniProtKB/Swiss-Prot Summary for POP1 Gene

  • Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:8918471, PubMed:30454648). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed:28115465).

Gene Wiki entry for POP1 Gene

Additional gene information for POP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POP1 Gene

Genomics for POP1 Gene

GeneHancer (GH) Regulatory Elements for POP1 Gene

Promoters and enhancers for POP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POP1

Top Transcription factor binding sites by QIAGEN in the POP1 gene promoter:
  • c-Myc
  • CUTL1
  • FOXO4
  • Ik-1
  • Max
  • NF-kappaB
  • NF-kappaB1
  • PPAR-gamma1
  • PPAR-gamma2
  • RelA

Genomic Locations for POP1 Gene

Genomic Locations for POP1 Gene
chr8:98,117,293-98,159,841
(GRCh38/hg38)
Size:
42,549 bases
Orientation:
Plus strand
chr8:99,129,521-99,172,069
(GRCh37/hg19)
Size:
42,549 bases
Orientation:
Plus strand

Genomic View for POP1 Gene

Genes around POP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POP1 Gene

Proteins for POP1 Gene

  • Protein details for POP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99575-POP1_HUMAN
    Recommended name:
    Ribonucleases P/MRP protein subunit POP1
    Protein Accession:
    Q99575
    Secondary Accessions:
    • A8K5W9
    • Q15037

    Protein attributes for POP1 Gene

    Size:
    1024 amino acids
    Molecular mass:
    114709 Da
    Quaternary structure:
    • Component of nuclear RNase P and RNase MRP ribonucleoproteins (PubMed:8918471, PubMed:16723659). 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: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:16723659, PubMed:28115465).

    Three dimensional structures from OCA and Proteopedia for POP1 Gene

neXtProt entry for POP1 Gene

Post-translational modifications for POP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POP1 Gene

No data available for DME Specific Peptides for POP1 Gene

Domains & Families for POP1 Gene

Gene Families for POP1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for POP1 Gene

Blocks:
  • Ribonucleases PMRP subunit POP1
  • POPLD
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for POP1 Gene

GenScript: Design optimal peptide antigens:
  • Ribonucleases P/MRP protein subunit POP1 (POP1_HUMAN)
  • Processing of 1, ribonuclease P/MRP subunit (S. cerevisiae) (Q96F88_HUMAN)
genes like me logo Genes that share domains with POP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for POP1 Gene

Function for POP1 Gene

Molecular function for POP1 Gene

UniProtKB/Swiss-Prot Function:
Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:8918471, 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=. ;.

Enzyme Numbers (IUBMB) for POP1 Gene

Phenotypes From GWAS Catalog for POP1 Gene

Gene Ontology (GO) - Molecular Function for POP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000171 ribonuclease MRP activity IDA 8918471
GO:0003723 RNA binding HDA,IEA 22658674
GO:0004526 contributes_to ribonuclease P activity IDA,IBA 16723659
GO:0005515 protein binding IPI 15096576
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with POP1: view
genes like me logo Genes that share phenotypes with POP1: view

Human Phenotype Ontology for POP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

  • Addgene plasmids for POP1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for POP1 Gene

Localization for POP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POP1 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 POP1 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for POP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000172 ribonuclease MRP complex IBA,IDA 8918471
GO:0005615 extracellular space HDA 22664934
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005655 nucleolar ribonuclease P complex IDA 8918471
genes like me logo Genes that share ontologies with POP1: view

Pathways & Interactions for POP1 Gene

genes like me logo Genes that share pathways with POP1: view

Pathways by source for POP1 Gene

Gene Ontology (GO) - Biological Process for POP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001682 tRNA 5'-leader removal TAS --
GO:0008033 tRNA processing IBA 21873635
GO:0016078 tRNA catabolic process IDA 8918471
GO:0090501 RNA phosphodiester bond hydrolysis IEA --
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IEA --
genes like me logo Genes that share ontologies with POP1: view

No data available for SIGNOR curated interactions for POP1 Gene

Drugs & Compounds for POP1 Gene

No Compound Related Data Available

Transcripts for POP1 Gene

mRNA/cDNA for POP1 Gene

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

Clone Products

  • Addgene plasmids for POP1

Alternative Splicing Database (ASD) splice patterns (SP) for POP1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14
SP1:
SP2: -
SP3: -
SP4:
SP5:

Relevant External Links for POP1 Gene

GeneLoc Exon Structure for
POP1

Expression for POP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POP1 Gene

Protein differential expression in normal tissues from HIPED for POP1 Gene

This gene is overexpressed in Stomach (11.6), Lung (11.6), Breast (10.6), Colon muscle (8.0), and Islet of Langerhans (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POP1 Gene



Protein tissue co-expression partners for POP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POP1

SOURCE GeneReport for Unigene cluster for POP1 Gene:

Hs.252828

Evidence on tissue expression from TISSUES for POP1 Gene

  • Nervous system(4.1)
  • Bone marrow(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POP1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
Thorax:
  • clavicle
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with POP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for POP1 Gene

Orthologs for POP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for POP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POP1 31 30
  • 99.48 (n)
OneToOne
dog
(Canis familiaris)
Mammalia POP1 31 30
  • 86.09 (n)
OneToOne
cow
(Bos Taurus)
Mammalia POP1 31 30
  • 84.07 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pop1 17 31 30
  • 80.36 (n)
rat
(Rattus norvegicus)
Mammalia Pop1 30
  • 80.11 (n)
oppossum
(Monodelphis domestica)
Mammalia POP1 31
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 65 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves POP1 31 30
  • 66.37 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POP1 31
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pop1 30
  • 61.23 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC799016 30
  • 56.09 (n)
pop1 31
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta l(1)G0045 31 30
  • 44.98 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012125 30
  • 43.09 (n)
worm
(Caenorhabditis elegans)
Secernentea C05D11.9 31
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POP1 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 27 (a)
OneToOne
Species where no ortholog for POP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 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)

Evolution for POP1 Gene

ENSEMBL:
Gene Tree for POP1 (if available)
TreeFam:
Gene Tree for POP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POP1: view image

Paralogs for POP1 Gene

Paralogs for POP1 Gene

genes like me logo Genes that share paralogs with POP1: view

Variants for POP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POP1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
709344 Benign: not provided 98,127,673(+) A/G MISSENSE_VARIANT
720391 Benign: not provided 98,134,581(+) C/T SYNONYMOUS_VARIANT
722948 Likely Benign: not provided 98,157,624(+) A/G MISSENSE_VARIANT
723125 Likely Benign: not provided 98,127,710(+) A/G SYNONYMOUS_VARIANT
724459 Benign: not provided 98,123,347(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for POP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for POP1 Gene

Variant ID Type Subtype PubMed ID
esv21509 CNV gain 19812545
esv3572916 CNV loss 25503493
esv3618147 CNV loss 21293372
nsv1031795 CNV loss 25217958
nsv465747 CNV gain 19166990
nsv611807 CNV gain 21841781
nsv831405 CNV gain 17160897

Variation tolerance for POP1 Gene

Residual Variation Intolerance Score: 30.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.30; 81.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POP1 Gene

Human Gene Mutation Database (HGMD)
POP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POP1 Gene

Disorders for POP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for POP1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
anauxetic dysplasia 2
  • anxd2
anauxetic dysplasia 1
  • ad
skeletal dysplasias
  • osteochondrodysplasias
- elite association - COSMIC cancer census association via MalaCards
Search POP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

POP1_HUMAN
  • Anauxetic dysplasia 2 (ANXD2) [MIM:617396]: An autosomal recessive spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. {ECO:0000269 PubMed:21455487, ECO:0000269 PubMed:27380734, ECO:0000269 PubMed:28067412}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for POP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with POP1: view

No data available for Genatlas for POP1 Gene

Publications for POP1 Gene

  1. RNA-protein interactions in the human RNase MRP ribonucleoprotein complex. (PMID: 10199568) Pluk H … van Venrooij WJ (RNA (New York, N.Y.) 1999) 2 3 23 54
  2. hPop1: an autoantigenic protein subunit shared by the human RNase P and RNase MRP ribonucleoproteins. (PMID: 8918471) Lygerou Z … Séraphin B (The EMBO journal 1996) 2 3 4 54
  3. Cryo-EM Structure of the Human Ribonuclease P Holoenzyme. (PMID: 30454648) Wu J … Lei M (Cell 2018) 3 4 54
  4. Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. (PMID: 28067412) Barraza-García J … Heath KE (Clinical genetics 2017) 3 4 54
  5. Further evidence of POP1 mutations as the cause of anauxetic dysplasia. (PMID: 27380734) Elalaoui SC … Sefiani A (American journal of medical genetics. Part A 2016) 3 4 54

Products for POP1 Gene

Sources for POP1 Gene