POP1 - POP1 homolog, ribonuclease P/MRP subunit Gene

Homo sapiens

Also known as ANXD2

Gene ID: 10940 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

POPLD

0
200
400
600
800
1024 a.a.

Protein Preferred Names

Protein Names

ribonucleases P/MRP protein subunit POP1

hPOP1

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10875	POP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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