RPP40 - ribonuclease P/MRP subunit p40 Gene

Homo sapiens

Also known as RNASEP1; bA428J1.3

Gene ID: 10799 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in tRNA 5'-leader removal	IDA IDA: Inferred from direct assay	30454648	GOA

Cellular Component GO Annotation	Evidence	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12216	RPP40 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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