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Aliases for POP1 Gene

Aliases for POP1 Gene

  • POP1 Homolog, Ribonuclease P/MRP Subunit 2 3 5
  • 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
  • Ribonucleases P/MRP Protein Subunit POP1 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 Gene Expression and tRNA processing. Gene Ontology (GO) annotations related to this gene include ribonuclease MRP activity.

UniProtKB/Swiss-Prot for POP1 Gene

  • Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5-ends. Also a component of RNase MRP.

Gene Wiki entry for POP1 Gene

Additional gene information for POP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POP1 Gene

Genomics for POP1 Gene

GeneHancer (GH) Regulatory Elements for POP1 Gene

Promoters and enhancers for POP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I098116 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.3 292 3.2 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 RIDA POP1 RNU6-703P RPL30 GC08M098127 GC08P097993
GH08I098939 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 +828.2 828193 12.9 PKNOX1 FOXA2 ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B POLR2B ZNF766 OSR2 STK3 ENSG00000271930 VPS13B ENSG00000245970 POP1 ENSG00000229625
GH08I098064 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 12.3 -52.6 -52569 1 ZSCAN4 ZNF76 SIN3A GLI4 ZNF2 ZNF335 GLIS2 ZNF366 SCRT2 EGR2 ERICH5 POP1 ENSG00000245970 GC08P098099 GC08P097993
GH08I099011 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.8 +896.0 896036 2.9 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZNF2 VPS13B LOC105375666 ENSG00000245970 RPL30 OSR2 ENSG00000271930 POP1 ENSG00000253562
GH08I098043 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.9 -72.0 -72017 3.3 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 RPL30 PIR49636 VPS13B ENSG00000245970 POP1 GC08P097993 GC08P097916
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around POP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POP1 gene promoter:

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)

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:
    • RNase P consists of an RNA moiety and at least 8 protein subunits; POP1, RPP14, RPP20/POP7, RPP25, RPP29/POP4, RPP30, RPP38 and RPP40.

neXtProt entry for POP1 Gene

Post-translational modifications for POP1 Gene

No Post-translational modifications

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

Suggested Antigen Peptide Sequences for POP1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for POP1 Gene

Function for POP1 Gene

Molecular function for POP1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Endonucleolytic cleavage of RNA, removing 5-extranucleotides from tRNA precursor.
UniProtKB/Swiss-Prot Function:
Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5-ends. Also a component of RNase MRP.

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 IDA,HDA 22658674
GO:0004526 contributes_to ribonuclease P activity IDA 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
extracellular 5
nucleus 5
mitochondrion 4
golgi apparatus 4
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 IDA 8918471
GO:0005615 extracellular space HDA,IDA 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:0006396 RNA processing IEA --
GO:0008033 tRNA processing IBA --
GO:0016078 tRNA catabolic process IDA 8918471
GO:0090501 RNA phosphodiester bond hydrolysis 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

Unigene Clusters for POP1 Gene

Processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae):
Representative Sequences:

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
ECgene alternative splicing isoforms for
POP1

Expression for POP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for POP1 Gene



Protein tissue co-expression partners for POP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of POP1 Gene:

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
Organs:
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 33 34
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia POP1 33 34
  • 86.09 (n)
cow
(Bos Taurus)
Mammalia POP1 33 34
  • 84.07 (n)
mouse
(Mus musculus)
Mammalia Pop1 33 16 34
  • 80.36 (n)
rat
(Rattus norvegicus)
Mammalia Pop1 33
  • 80.11 (n)
oppossum
(Monodelphis domestica)
Mammalia POP1 34
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 65 (a)
OneToMany
-- 34
  • 63 (a)
OneToMany
-- 34
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves POP1 33 34
  • 66.37 (n)
lizard
(Anolis carolinensis)
Reptilia POP1 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pop1 33
  • 61.23 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC799016 33
  • 56.09 (n)
pop1 34
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta l(1)G0045 34 33
  • 44.98 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012125 33
  • 43.09 (n)
worm
(Caenorhabditis elegans)
Secernentea C05D11.9 34
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POP1 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

Paralogs for POP1 Gene

No data available for Paralogs for POP1 Gene

Variants for POP1 Gene

Sequence variations from dbSNP and Humsavar for POP1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1060505023 pathogenic, Anauxetic dysplasia 2 98,148,848(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1060505024 pathogenic, Anauxetic dysplasia 2 98,157,800(+) CCCC/CCC coding_sequence_variant, frameshift, genic_downstream_transcript_variant
rs1060505025 pathogenic, Anauxetic dysplasia 2 98,140,825(+) G/T coding_sequence_variant, missense_variant
rs374828868 pathogenic, Anauxetic dysplasia 2, Anauxetic dysplasia 2 (ANXD2) [MIM:617396] 98,148,852(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs769183311 pathogenic, Anauxetic dysplasia 2 98,140,867(+) C/G/T coding_sequence_variant, missense_variant

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

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: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
anauxetic dysplasia 2
  • anxd2
anauxetic dysplasia 1
  • anxd1
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 22 58
  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 58
  3. 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 58
  4. Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. (PMID: 22210626) Mead S … Collinge J (Human molecular genetics 2012) 3 44 58
  5. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu CY … Christiani DC (Carcinogenesis 2010) 3 44 58

Products for POP1 Gene

  • Addgene plasmids for POP1

Sources for POP1 Gene

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