RPP40 - ribonuclease P/MRP subunit p40 Gene

Also Known as RNASEP1; bA428J1.3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10799

About RPP40

Cytogenetic location: 6p25.1 Genomic coordinates (GRCh38): 6:4,988,426-5,004,037 (from NCBI)

This gene has 7 transcripts (splice variants) and 199 orthologues. Ubiquitous expression in adrenal (RPKM 3.2), testis (RPKM 2.4) and 25 other tissues.

Summary

Enables ribonuclease P RNA binding activity. Contributes to ribonuclease P activity. Involved in tRNA 5'-leader removal. Part of multimeric ribonuclease P complex. [provided by Alliance of Genome Resources, Apr 2022]

RPP40 Products (3)

mRNA	Protein	Name
NM_001286132.2	NP_001273061.1	ribonuclease P protein subunit p40 isoform b
NM_001286133.2	NP_001273062.1	ribonuclease P protein subunit p40 isoform c
NM_006638.4	NP_006629.2	ribonuclease P protein subunit p40 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15096576	GOA
enables ribonuclease P RNA binding	IDA IDA: Inferred from direct assay	30454648	GOA
contributes to ribonuclease P activity	IDA IDA: Inferred from direct assay	30454648	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in tRNA 5'-leader removal	IDA IDA: Inferred from direct assay	30454648	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of multimeric ribonuclease P complex	IDA IDA: Inferred from direct assay	30454648	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

RPP40 Protein Structure

Ribonuc_P_40

0
100
200
300
363 a.a.

Protein Preferred Names	Protein Names
ribonuclease P protein subunit p40	RNase P subunit 1

RPP40 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	RPP40	O75818	RPP14	Homo sapiens	O95059	Pull Down	15096576
Intra	RPP40	O75818	RPP21	Homo sapiens	Q9H633	Pull Down	15096576

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Chromosome 6pter-P24 Deletion Syndrome	6p Subtelomeric Deletion Syndrome 6p25 Microdeletion Syndrome Distal Monosomy 6p Distal Deletion 6p Monosomy 6p25
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
Cartilage-Hair Hypoplasia	Metaphyseal Chondrodysplasia, Mckusick Type CHH Mckusick Type Metaphyseal Chondrodysplasia Metaphyseal Dysplasia Without Hypotrichosis Cartilage Hair Hypoplasia Like Syndrome Metaphyseal Chondrodysplasia Mckusick Type Chhv Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency Cartilage-Hair Syndrome Mckusick'S Metaphyseal Chondrodysplasia Syndrome Metaphyseal Chondrodysplasia, Recessive Type Autosomal Recessive Metaphyseal Chondrodysplasia

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 (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS12216	RPP40 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	RPP40	RGD	RGD:1310228
Felis catus	RPP40	VGNC	VGNC:64747
Mus musculus	RPP40	MGD	MGI:1346084
Bos taurus	RPP40	VGNC	VGNC:34125
Canis familiaris	RPP40	VGNC	VGNC:45725
Macaca mulatta	RPP40	VGNC	VGNC:77069
Others	RPP40	NCBI