PMPCA - peptidase, mitochondrial processing subunit alpha Gene

Also Known as CLA1; CPD3; MAS2; P-55; SCAR2; INPP5E; Alpha-MPP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23203

About PMPCA

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:136,410,658-136,423,761 (from NCBI)

This gene has 29 transcripts (splice variants), 208 orthologues, 6 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 12.6), testis (RPKM 12.5) and 25 other tissues.

Summary

The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016]

PMPCA Products (3)

mRNA	Protein	Name
NM_001282944.2	NP_001269873.1	mitochondrial-processing peptidase subunit alpha isoform 2
NM_001282946.2	NP_001269875.1	mitochondrial-processing peptidase subunit alpha isoform 3
NM_015160.3	NP_055975.1	mitochondrial-processing peptidase subunit alpha isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	30021884	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in protein processing involved in protein targeting to mitochondrion	IDA IDA: Inferred from direct assay	22354088	GOA
involved in protein processing involved in protein targeting to mitochondrion	IMP IMP: Inferred from mutant phenotype	25808372	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	25808372	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

PMPCA Protein Structure

Peptidase_M16

Peptidase_M16_C

0
100
200
300
400
500
525 a.a.

Protein Preferred Names	Protein Names
mitochondrial-processing peptidase subunit alpha	Cerebellar ataxia-1

PMPCA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	PMPCA	Q10713	H1-1	Homo sapiens	Q02539	Crosslink	30021884
Intra	PMPCA	Q10713	H1-1	Homo sapiens	Q02539	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spinocerebellar Ataxia, Autosomal Recessive 2	SCAR2 Cpd3 Autosomal Recessive Spinocerebellar Ataxia 2 Cerebellar Hypoplasia, Nonprogressive Norman Type Cerebelloparenchymal Disorder Iii Cpd Iii Autosomal Recessive Cerebelloparenchymal Disorder Type 3 Cerebellar Granular Cell Hypoplasia And Mental Retardation, Congenital Cerebelloparenchymal Disorder 3 Cpdiii Cerebellar Granular Cell Hypoplasia And Intellectual Disability, Congenital Autosomal Recessive Spinocerebellar Ataxia Type 2 Spinocerebellar Ataxia, Autosomal Recessive, 2 Cerebellar Hypoplasia, Non-Progressive Norman Type
Normal Pressure Hydrocephalus	Low Pressure Hydrocephalus Hydrocephalus Normal Pressure Hydrocephalus, Normal Pressure Normal Pressure Hydrocephalus Nos Nph - [Normal Pressure Hydrocephalus] Normal Pressure Hydrocephaly
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Nephronophthisis-Like Nephropathy 1	NPHPL1 Nephronophthisis-Like Nephropathy, Type 1
African Tick-Bite Fever	Rickettsia Africae Spotted Fever South African Tick-Bite Fever African Tick Bite Fever
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency	Congenital Myasthenic Syndrome 11 CMS11 Cms Ie Cms1e Myasthenic Syndrome, Congenital, Ie Myasthenic Syndrome, Congenital, Ie, Formerly Cms1e, Formerly Cms Ie, Formerly Congenital Myasthenic Syndrome 11 Associated With Acetylcholine Receptor Deficiency Congenital Myasthenic Syndrome 1e Myasthenic Syndrome, Congenital, Type 11, Associated With Acetylcholine Receptor Deficiency
Israeli Tick Typhus	Israeli Spotted Fever
Brugada Syndrome 5	BRGDA5 Cardiac Conduction Defect, Nonspecific Brugada Syndrome, Type 5
Spinocerebellar Ataxia, Autosomal Recessive 23	SCAR23 Autosomal Recessive Spinocerebellar Ataxia 23 Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency Autosomal Recessive Cerebellar Ataxia - Epilepsy - Intellectual Disability Syndrome Due To Tud Deficiency Spinocerebellar Ataxia Autosomal Recessive Type 23 Spinocerebellar Ataxia, Autosomal Recessive, 23 Ataxia, Spinocerebellar, Autosomal Recessive, Type 23
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	CECBA Cerebellar Ataxia, Nonprogressive, With Mental Retardation Canpmr Nonprogressive Cerebellar Ataxia With Mental Retardation Non-Progressive Cerebellar Ataxia With Intellectual Disability Ataxia, Cerebellar, Nonprogressive, With Mental Retardation
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	SMDMDM Autosomal Recessive Spondylometaphyseal Dysplasia, Megarbane Type Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type Spondylometaphyseal Dysplasia Megarbane-Dagher-Melike Type Chondrodysplasia, Megarbane-Dagher-Melki Type Megarbane-Dagher-Melike Type Chondrodysplasia Chondrodysplasia, Megarbane-Dagher-Melike Type Dysplasia, Spondylometaphyseal, Megarbane-Dagher-Melike Type
Combined Oxidative Phosphorylation Deficiency 31	Lethal Left Ventricular Non-Compaction-Seizures-Hypotonia-Cataract-Developmental Delay Syndrome COXPD31
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Spotted Fever	Spotted Fevers Spotted Fever Group Rickettsial Disease Tick-Borne Rickettsioses Tick-Borne Typhus Nos Rocky Mountain Spotted Fever Sao Paulo Fever Sao Paulo Typhus Lone Star Spotted Fever Colombian Spotted Fever American Spotted Fever Tick Typhus Due To Rickettsia Rickettsii Rocky Mountain Tick Fever Boutonneuse Fever Mediterranean Tick Fever Fièvre Boutonneuse Mediterranean Spotted Fever Tick Typhus Due To Rickettsia Conorii African Tick Typhus Indian Tick Typhus Kenya Tick Typhus North Asian Tick Fever Siberian Tick Typhus Tick Typhus Due To Rickettsia Siberica North Asian Spotted Fever Queensland Tick Typhus Queensland Fever

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)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS10770	PMPCA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PMPCA	MGD	MGI:1918568
Bos taurus	PMPCA	VGNC	VGNC:33075
Canis familiaris	PMPCA	VGNC	VGNC:44736
Macaca mulatta	PMPCA	VGNC	VGNC:76062
Felis catus	PMPCA	VGNC	VGNC:64257
Rattus norvegicus	PMPCA	RGD	RGD:727897
Others	PMPCA	NCBI