1. Gene
  2. PRORP - protein only RNase P catalytic subunit Gene

PRORP - protein only RNase P catalytic subunit Gene

Homo sapiens

Also known as MRPP3; COXPD54; KIAA0391

Gene ID: 9692 | Gene type: protein coding

About PRORP

Cytogenetic location: 14q13.2 Genomic coordinates (GRCh38): 14:35,121,839-35,277,622 (from NCBI)

This gene has 11 transcripts (splice variants), 205 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 10.2), kidney (RPKM 8.4) and 25 other tissues.

Summary

Enables ribonuclease P activity. Involved in mitochondrial tRNA 5'-end processing. Located in mitochondrion and nucleoplasm. Part of mitochondrial ribonuclease P complex. [provided by Alliance of Genome Resources, Apr 2022]

PRORP Products(6)

mRNA Protein Name
NM_001256678.2 NP_001243607.1 mitochondrial ribonuclease P catalytic subunit isoform 2
NM_001256679.2 NP_001243608.1 mitochondrial ribonuclease P catalytic subunit isoform 3
NM_001256680.2 NP_001243609.1 mitochondrial ribonuclease P catalytic subunit isoform 4
NM_001256681.2 NP_001243610.1 mitochondrial ribonuclease P catalytic subunit isoform 4
NM_001414503.1 NP_001401432.1 mitochondrial ribonuclease P catalytic subunit isoform 1 precursor
NM_014672.4 NP_055487.2 mitochondrial ribonuclease P catalytic subunit isoform 1 precursor
Protein Preferred Names Protein Names

mitochondrial ribonuclease P catalytic subunit

mitochondrial RNase P protein 3

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 54

COXPD54

Perrault Syndrome 1

PRLTS1

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis Xx Type Deafness

Gonadal Dysgenesis, Xx Type, With Deafness

Gonadal Dysgenesis Xx Type With Deafness

Hypertonia
Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Syndromic X-Linked Intellectual Disability Type 10

Hsd10 Deficiency, Atypical Type

Hsd10 Disease, Atypical Type

X-Linked Intellectual Disability-Choreoathetosis-Abnormal Behavior Syndrome

Mrxs10

Mental Retardation, X-Linked, Syndromic 10

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Anterior Spinal Artery Syndrome

Anterior Spinal Artery Occlusion Syndrome

Codas Syndrome

Cerebral, Ocular, Dental, Auricular, And Skeletal Anomalies Syndrome

Cerebral, Ocular, Dental, Auricular, And Skeletal Syndrome

Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome

Cerebrooculodentoauriculoskeletal Syndrome

CODASS

Cerebral, Ocular, Dental, Auricular, Skeletal Syndrome

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta PRORP VGNC VGNC:84425
Rattus norvegicus PRORP RGD RGD:1305089
Felis catus PRORP VGNC VGNC:80885
Bos taurus PRORP VGNC VGNC:55893
Mus musculus PRORP MGD MGI:1913382