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PMPCA peptidase, mitochondrial processing subunit alpha [ Homo sapiens (human) ]

Gene ID: 23203, updated on 5-Jan-2020

Summary

Official Symbol
PMPCAprovided by HGNC
Official Full Name
peptidase, mitochondrial processing subunit alphaprovided by HGNC
Primary source
HGNC:HGNC:18667
See related
Ensembl:ENSG00000165688 MIM:613036
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CLA1; CPD3; P-55; SCAR2; INPP5E; Alpha-MPP
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]
Expression
Ubiquitous expression in heart (RPKM 12.6), testis (RPKM 12.5) and 25 other tissues See more
Orthologs

Genomic context

See PMPCA in Genome Data Viewer
Location:
9q34.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (136410573..136423761)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139305110..139318213)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3996 Neighboring gene caspase recruitment domain family member 9 Neighboring gene small nuclear RNA activating complex polypeptide 4 Neighboring gene endosome associated trafficking regulator 1 Neighboring gene inositol polyphosphate-5-phosphatase E Neighboring gene SEC16 homolog A, endoplasmic reticulum export factor Neighboring gene chromosome 9 open reading frame 163

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spinocerebellar ataxia, autosomal recessive 2
MedGen: C1859298 OMIM: 213200 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26258, KIAA0123, MGC104197

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
metalloendopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular space HDA PubMed 
mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
PubMed 
mitochondrial processing peptidase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
mitochondrial-processing peptidase subunit alpha
Names
Cerebellar ataxia-1
cerebellar ataxia 1 (autosomal recessive)
inositol polyphosphate-5-phosphatase, 72 kD
mitochondrial matrix processing protease, alpha subunit
peptidase, mitochondrial processing alpha subunit
NP_001269873.1
NP_001269875.1
NP_055975.1
XP_005266116.1
XP_011516719.1
XP_016870032.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_046789.1 RefSeqGene

    Range
    5086..18189
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282944.1NP_001269873.1  mitochondrial-processing peptidase subunit alpha isoform 2

    See identical proteins and their annotated locations for NP_001269873.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' coding region which results in the use of a alternate start codon compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AA037280, AK296617, AL592301
    Consensus CDS
    CCDS65192.1
    UniProtKB/Swiss-Prot
    Q10713
    Related
    ENSP00000416702.2, ENST00000399219.7
    Conserved Domains (3) summary
    COG0612
    Location:69373
    PqqL; Predicted Zn-dependent peptidase [General function prediction only]
    pfam00675
    Location:4796
    Peptidase_M16; Insulinase (Peptidase family M16)
    pfam05193
    Location:101300
    Peptidase_M16_C; Peptidase M16 inactive domain
  2. NM_001282946.1NP_001269875.1  mitochondrial-processing peptidase subunit alpha isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region which results in the use of an alternate start codon compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK308104, AL592301, BC022949
    UniProtKB/Swiss-Prot
    Q10713
    Conserved Domains (3) summary
    COG0612
    Location:47404
    PqqL; Predicted Zn-dependent peptidase [General function prediction only]
    pfam00675
    Location:35127
    Peptidase_M16; Insulinase (Peptidase family M16)
    pfam05193
    Location:132331
    Peptidase_M16_C; Peptidase M16 inactive domain
  3. NM_015160.3NP_055975.1  mitochondrial-processing peptidase subunit alpha isoform 1 precursor

    See identical proteins and their annotated locations for NP_055975.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL592301, BC022949
    Consensus CDS
    CCDS35180.1
    UniProtKB/Swiss-Prot
    Q10713
    Related
    ENSP00000360782.3, ENST00000371717.8
    Conserved Domains (1) summary
    COG0612
    Location:65504
    PqqL; Predicted Zn-dependent peptidase [General function prediction only]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    136410573..136423761
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266059.4XP_005266116.1  mitochondrial-processing peptidase subunit alpha isoform X1

    Conserved Domains (3) summary
    COG0612
    Location:65465
    PqqL; Predicted Zn-dependent peptidase [General function prediction only]
    pfam00675
    Location:77227
    Peptidase_M16; Insulinase (Peptidase family M16)
    pfam05193
    Location:232431
    Peptidase_M16_C; Peptidase M16 inactive domain
  2. XM_017014543.2XP_016870032.1  mitochondrial-processing peptidase subunit alpha isoform X3

  3. XM_011518417.3XP_011516719.1  mitochondrial-processing peptidase subunit alpha isoform X2

    Conserved Domains (3) summary
    COG0612
    Location:18283
    PqqL; Predicted Zn-dependent peptidase [General function prediction only]
    pfam00675
    Location:145
    Peptidase_M16; Insulinase (Peptidase family M16)
    pfam05193
    Location:50249
    Peptidase_M16_C; Peptidase M16 inactive domain
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