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Aliases for PMPCA Gene

Aliases for PMPCA Gene

  • Peptidase, Mitochondrial Processing Alpha Subunit 2 3
  • Inositol Polyphosphate-5-Phosphatase, 72 KD 2 3
  • Peptidase (Mitochondrial Processing) Alpha 2 5
  • EC 3.4.24.64 4 63
  • Alpha-MPP 3 4
  • INPP5E 3 4
  • P-55 3 4
  • Mitochondrial Matrix Processing Protease, Alpha Subunit 3
  • KIAA0123 4
  • SCAR2 3
  • MPPA 4

External Ids for PMPCA Gene

Previous HGNC Symbols for PMPCA Gene

  • INPP5E

Previous GeneCards Identifiers for PMPCA Gene

  • GC09P132746
  • GC09P134662
  • GC09P136580
  • GC09P138424
  • GC09P139305
  • GC09P108764

Summaries for PMPCA Gene

Entrez Gene Summary for PMPCA Gene

  • 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]

GeneCards Summary for PMPCA Gene

PMPCA (Peptidase, Mitochondrial Processing Alpha Subunit) is a Protein Coding gene. Diseases associated with PMPCA include Spinocerebellar Ataxia, Autosomal Recessive 2 and Nephronophthisis. Among its related pathways are Mitochondrial protein import and 3-phosphoinositide degradation. GO annotations related to this gene include metalloendopeptidase activity. An important paralog of this gene is UQCRC2.

UniProtKB/Swiss-Prot for PMPCA Gene

  • Cleaves presequences (transit peptides) from mitochondrial protein precursors.

Gene Wiki entry for PMPCA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PMPCA Gene

Genomics for PMPCA Gene

Regulatory Elements for PMPCA Gene

Enhancers for PMPCA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PMPCA on UCSC Golden Path with GeneCards custom track

Promoters for PMPCA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PMPCA on UCSC Golden Path with GeneCards custom track

Genomic Location for PMPCA Gene

Chromosome:
9
Start:
136,410,570 bp from pter
End:
136,423,761 bp from pter
Size:
13,192 bases
Orientation:
Plus strand

Genomic View for PMPCA Gene

Genes around PMPCA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMPCA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PMPCA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMPCA Gene

Proteins for PMPCA Gene

  • Protein details for PMPCA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q10713-MPPA_HUMAN
    Recommended name:
    Mitochondrial-processing peptidase subunit alpha
    Protein Accession:
    Q10713
    Secondary Accessions:
    • B4DKL3
    • E7ET61
    • Q16639
    • Q5SXM9
    • Q8N513

    Protein attributes for PMPCA Gene

    Size:
    525 amino acids
    Molecular mass:
    58253 Da
    Quaternary structure:
    • Heterodimer of alpha and beta subunits.
    SequenceCaution:
    • Sequence=AAH33103.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA04643.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA09472.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PMPCA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PMPCA Gene

Proteomics data for PMPCA Gene at MOPED

Post-translational modifications for PMPCA Gene

  • Ubiquitination at Lys 53, Lys 103, Lys 232, Lys 269, and Lys 488
  • Modification sites at PhosphoSitePlus

Other Protein References for PMPCA Gene

Domains & Families for PMPCA Gene

Graphical View of Domain Structure for InterPro Entry

Q10713

UniProtKB/Swiss-Prot:

MPPA_HUMAN :
  • Belongs to the peptidase M16 family.
Family:
  • Belongs to the peptidase M16 family.
genes like me logo Genes that share domains with PMPCA: view

No data available for Gene Families for PMPCA Gene

Function for PMPCA Gene

Molecular function for PMPCA Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Release of N-terminal transit peptides from precursor proteins imported into the mitochondrion, typically with Arg in position P2.
UniProtKB/Swiss-Prot Function:
Cleaves presequences (transit peptides) from mitochondrial protein precursors.

Enzyme Numbers (IUBMB) for PMPCA Gene

Gene Ontology (GO) - Molecular Function for PMPCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity TAS 10942759
GO:0008270 zinc ion binding IBA --
genes like me logo Genes that share ontologies with PMPCA: view
genes like me logo Genes that share phenotypes with PMPCA: view

Human Phenotype Ontology for PMPCA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for PMPCA Gene

miRTarBase miRNAs that target PMPCA

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PMPCA Gene

Localization for PMPCA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PMPCA Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PMPCA Gene COMPARTMENTS Subcellular localization image for PMPCA gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 2

Gene Ontology (GO) - Cellular Components for PMPCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane TAS 10942759
genes like me logo Genes that share ontologies with PMPCA: view

Pathways & Interactions for PMPCA Gene

genes like me logo Genes that share pathways with PMPCA: view

Pathways by source for PMPCA Gene

1 BioSystems pathway for PMPCA Gene
2 Reactome pathways for PMPCA Gene

Gene Ontology (GO) - Biological Process for PMPCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006626 protein targeting to mitochondrion TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with PMPCA: view

No data available for SIGNOR curated interactions for PMPCA Gene

Drugs & Compounds for PMPCA Gene

(1) Drugs for PMPCA Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 2102
genes like me logo Genes that share compounds with PMPCA: view

Transcripts for PMPCA Gene

Unigene Clusters for PMPCA Gene

Peptidase (mitochondrial processing) alpha:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PMPCA Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e ^ 9a · 9b · 9c · 9d · 9e ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^
SP1: - - - - - - -
SP2: - - -
SP3: - - - - - - -
SP4: - -
SP5:
SP6: -
SP7: - - -
SP8: - - - -
SP9: - - - -
SP10: -
SP11: - - - - -
SP12:
SP13:
SP14: - -

ExUns: 15a · 15b · 15c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for PMPCA Gene

GeneLoc Exon Structure for
PMPCA
ECgene alternative splicing isoforms for
PMPCA

Expression for PMPCA Gene

mRNA expression in normal human tissues for PMPCA Gene

Protein differential expression in normal tissues from HIPED for PMPCA Gene

This gene is overexpressed in Lymph node (8.5) and Heart (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PMPCA Gene



SOURCE GeneReport for Unigene cluster for PMPCA Gene Hs.495471

genes like me logo Genes that share expression patterns with PMPCA: view

Protein tissue co-expression partners for PMPCA Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PMPCA Gene

Orthologs for PMPCA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PMPCA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PMPCA 35
  • 86.16 (n)
  • 90.67 (a)
PMPCA 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PMPCA 35
  • 85.7 (n)
  • 90.68 (a)
PMPCA 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pmpca 35
  • 85.56 (n)
  • 91.41 (a)
Pmpca 16
Pmpca 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PMPCA 35
  • 93.99 (n)
  • 92.79 (a)
PMPCA 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pmpca 35
  • 86.13 (n)
  • 92.18 (a)
oppossum
(Monodelphis domestica)
Mammalia PMPCA 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PMPCA 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves PMPCA 35
  • 73.37 (n)
  • 82.79 (a)
PMPCA 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PMPCA 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pmpca 35
  • 75.48 (n)
  • 84.42 (a)
Str.221 35
zebrafish
(Danio rerio)
Actinopterygii pmpca 35
  • 71.79 (n)
  • 80.28 (a)
pmpca 36
  • 78 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6618 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008086 35
  • 58.12 (n)
  • 55.42 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8728 35
  • 57.34 (n)
  • 53.86 (a)
CG8728 36
  • 46 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mppa-1 35
  • 46.79 (n)
  • 41.03 (a)
mppa-1 36
  • 38 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E11573g 35
  • 48.02 (n)
  • 38.37 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAS2 35
  • 48.46 (n)
  • 39.76 (a)
MAS2 36
  • 34 (a)
OneToMany
MAS2 38
rice
(Oryza sativa)
Liliopsida Os01g0966300 35
  • 45.18 (n)
  • 36.2 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1704 35
bread mold
(Neurospora crassa)
Ascomycetes NCU06270 35
  • 51.65 (n)
  • 40.46 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mas2 35
  • 44.15 (n)
  • 35.31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 64 (a)
OneToOne
Species with no ortholog for PMPCA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PMPCA Gene

ENSEMBL:
Gene Tree for PMPCA (if available)
TreeFam:
Gene Tree for PMPCA (if available)

Paralogs for PMPCA Gene

Paralogs for PMPCA Gene

(1) SIMAP similar genes for PMPCA Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for PMPCA Gene

genes like me logo Genes that share paralogs with PMPCA: view

Variants for PMPCA Gene

Sequence variations from dbSNP and Humsavar for PMPCA Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1130635 -- 136,423,417(+) TCTTT(C/T)GGAAC downstream-variant-500B, utr-variant-3-prime
rs1130640 -- 136,423,527(+) GCGGT(C/T)GGTGC downstream-variant-500B, utr-variant-3-prime
rs113033008 -- 136,417,518(+) CCCAG(A/G)CTGGA intron-variant
rs113363338 -- 136,421,647(+) GACCT(C/T)GTGAT intron-variant
rs113454072 -- 136,424,259(+) TGAGC(A/G)TGGTG downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for PMPCA Gene

Variant ID Type Subtype PubMed ID
nsv825173 CNV Gain 20364138
nsv894294 CNV Loss 21882294
dgv8383n71 CNV Loss 21882294
dgv8385n71 CNV Loss 21882294
dgv8386n71 CNV Loss 21882294
dgv8389n71 CNV Loss 21882294
dgv8390n71 CNV Loss 21882294
dgv8392n71 CNV Loss 21882294
nsv894357 CNV Loss 21882294
nsv509333 CNV Insertion 20534489
nsv482928 CNV Loss 15286789
dgv2426e1 CNV Complex 17122850
nsv469918 CNV Loss 18288195
dgv8394n71 CNV Loss 21882294
nsv831760 CNV Loss 17160897
nsv894364 CNV Loss 21882294
nsv894365 CNV Loss 21882294
nsv894366 CNV Loss 21882294
nsv894367 CNV Loss 21882294
nsv825174 CNV Gain 20364138
nsv6766 CNV Insertion 18451855
esv2676242 CNV Deletion 23128226
dgv8395n71 CNV Loss 21882294

Variation tolerance for PMPCA Gene

Residual Variation Intolerance Score: 19.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PMPCA Gene

Human Gene Mutation Database (HGMD)
PMPCA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PMPCA Gene

Disorders for PMPCA Gene

MalaCards: The human disease database

(9) MalaCards diseases for PMPCA Gene - From: ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive 2
  • autosomal recessive spinocerebellar ataxia 2
nephronophthisis
  • medullary cystic kidney disease 1
normal pressure hydrocephalus
  • low pressure hydrocephalus
3-methylglutaconic aciduria, type iii
  • optic atrophy plus syndrome
optic atrophy 3 with cataract
  • optic atrophy plus syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PMPCA in MalaCards View complete list of genes associated with diseases

Relevant External Links for PMPCA

Genetic Association Database (GAD)
PMPCA
Human Genome Epidemiology (HuGE) Navigator
PMPCA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PMPCA
genes like me logo Genes that share disorders with PMPCA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PMPCA Gene

Publications for PMPCA Gene

  1. Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8590280) Nagase T. … Nomura N. (DNA Res. 1995) 2 3 4 67
  2. Glycine-rich region of mitochondrial processing peptidase alpha-subunit is essential for binding and cleavage of the precursor proteins. (PMID: 10942759) Nagao Y. … Ito A. (J. Biol. Chem. 2000) 3 23
  3. Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7788527) Nagase T. … Nomura N. (DNA Res. 1995) 2 3
  4. Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. (PMID: 26657514) Choquet K. … TActreault M. (Brain 2016) 3
  5. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. (PMID: 25808372) Jobling R.K. … Yoon G. (Brain 2015) 3

Products for PMPCA Gene

Sources for PMPCA Gene

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