POP1 - POP1 homolog, ribonuclease P/MRP subunit Gene

Also Known as ANXD2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10940

About POP1

Cytogenetic location: 8q22.2 Genomic coordinates (GRCh38): 8:98,117,293-98,159,835 (from NCBI)

This gene has 4 transcripts (splice variants), 202 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 2.0), appendix (RPKM 1.8) and 25 other tissues.

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]

POP1 Products (3)

mRNA Protein Name
NM_001145860.2 NP_001139332.1 ribonucleases P/MRP protein subunit POP1
NM_001145861.2 NP_001139333.1 ribonucleases P/MRP protein subunit POP1
NM_015029.3 NP_055844.2 ribonucleases P/MRP protein subunit POP1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
15096576 GOA
enables ribonuclease P RNA binding IDA
IDA: Inferred from direct assay
16723659 GOA
contributes to ribonuclease P activity IDA
IDA: Inferred from direct assay
8918471 GOA
Biological Process GO Annotation Evidence References Source
involved in tRNA 5'-leader removal IDA
IDA: Inferred from direct assay
16723659 GOA
involved in tRNA decay IDA
IDA: Inferred from direct assay
8918471 GOA
Cellular Component GO Annotation Evidence References Source
part of multimeric ribonuclease P complex IDA
IDA: Inferred from direct assay
16723659 GOA
part of nucleolar ribonuclease P complex IDA
IDA: Inferred from direct assay
8918471 GOA
part of ribonuclease MRP complex IDA
IDA: Inferred from direct assay
8918471 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POP1 Protein Structure

POP1

POP1: Ribonucleases P/MRP protein subunit POP1 (107 - 257)

POPLD

POPLD: POPLD (NUC188) domain (617 - 708)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1024 a.a.
Protein Preferred Names Protein Names

ribonucleases P/MRP protein subunit POP1

  • hPOP1

POP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
POP1 Q99575 POP4 Homo sapiens O95707
Pull Down
15096576
Intra
POP1 Q99575 POP5 Homo sapiens Q969H6
Pull Down
15096576
Intra
POP1 Q99575 RPP25 Homo sapiens Q9BUL9
Pull Down
15096576
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Anauxetic Dysplasia 2

  • ANXD2
Anauxetic Dysplasia 1

  • Anauxetic Dysplasia

  • Spondylometaepiphyseal Dysplasia, Menger Type

  • Spondylometaepiphyseal Dysplasia, Anauxetic Type

  • Spondyloepimetaphyseal Dysplasia, Anauxetic Type

  • ANXD1

  • Anxd

  • Spondylometaepiphyseal Dysplasia Anauxetic Type

  • Spondylometaepiphyseal Dysplasia Menger Type

  • Ad

  • Spondyloepimetaphyseal Dysplasia, Menger Type

  • Dysplasia, Anauxetic, Type 1
Spondyloepimetaphyseal Dysplasia

  • Dysplasia, Spondyloepimetaphyseal
Transient Hypogammaglobulinemia Of Infancy

  • Immunoglobulin Maturational Delay

  • Thi - [Transient Hypogammaglobulinaemia Of Infancy]
Chromosome 22q11.2 Deletion Syndrome, Distal

  • 22q11.2 Deletion Syndrome

  • Autosomal Dominant Opitz G/Bbb Syndrome

  • Catch22

  • Cayler Cardiofacial Syndrome

  • Conotruncal Anomaly Face Syndrome

  • Digeorge Syndrome

  • Sedlackova Syndrome

  • Shprintzen Syndrome

  • Velocardiofacial Syndrome

  • 22q11.2 Distal Deletion Syndrome

  • Distal 22q11.2 Microdeletion Syndrome

  • 22q11.2ds

  • Vcfs

  • Velo-Cardio-Facial Syndrome

  • Distal Chromosome 22q11.2 Deletion Syndrome

  • Chromosome 22q11.2 Deletion Syndrome Distal

  • Chromosome 22q11.2 Deletion Syndrome

  • Deletion 22q11.2 Syndrome

  • 22q11ds

  • Catch 22

  • Digeorge Sequence

  • Microdeletion 22q11.2

  • Monosomy 22q11

  • Takao Syndrome

  • Distal Del(22)(Q11.2)

  • Distal Monosomy 22q11.2

  • Catch 22 Syndrome

  • Chromosome Deletion Syndrome 22q11.2, Distal
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01687 BVES Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS10875 POP1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-W583868S 1-Palmitoyl-2-oleoyl-sn-glycero-3-PE-d62 / Unkown
HY-RS19154 Pop1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25643 Pop1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus POP1 VGNC VGNC:33163
Rattus norvegicus POP1 RGD RGD:1308609
Felis catus POP1 VGNC VGNC:64297
Macaca mulatta POP1 VGNC VGNC:104471
Mus musculus POP1 MGD MGI:1914974
Canis familiaris POP1 VGNC VGNC:44815
Others POP1 NCBI