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PMPCA Gene

protein-coding   GIFtS: 60
GCID: GC09P139305

Peptidase (Mitochondrial Processing) Alpha

(Previous names: inositol polyphosphate-5-phosphatase, 72 kD)
(Previous symbol: INPP5E)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Peptidase (Mitochondrial Processing) Alpha1 2     EC 3.4.24.643 8
INPP5E1 2 3     KIAA01233 5
Inositol Polyphosphate-5-Phosphatase, 72 KD1 2     Mitochondrial Matrix Processing Protease, Alpha Subunit2
Alpha-MPP2 3     Mitochondrial-Processing Peptidase Subunit Alpha2
P-552 3     MPPA3

External Ids:    HGNC: 186671   Entrez Gene: 232032   Ensembl: ENSG000001656887   OMIM: 6130365   UniProtKB: Q107133   

Export aliases for PMPCA gene to outside databases

Previous GC identifers: GC09P132746 GC09P134662 GC09P136580 GC09P138424 GC09P108764


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PMPCA Gene:
PMPCA (peptidase (mitochondrial processing) alpha) is a protein-coding gene. Diseases associated with PMPCA include filariasis, and inflammatory bowel disease. GO annotations related to this gene include metalloendopeptidase activity. An important paralog of this gene is UQCRC2.

UniProtKB/Swiss-Prot: MPPA_HUMAN, Q10713
Function: Cleaves presequences (transit peptides) from mitochondrial protein precursors (By similarity)

Gene Wiki entry for PMPCA Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PMPCA gene promoter:
         Pbx1a   p53   Pax-6   MyoD   Lmo2   NRF-2   c-Myb   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): PMPCA promoter sequence
   Search Chromatin IP Primers for PMPCA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PMPCA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.3   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34.3

PMPCA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PMPCA gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P139305:  view genomic region     (about GC identifiers)

Start:
139,305,110 bp from pter      End:
139,318,213 bp from pter
Size:
13,104 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MPPA_HUMAN, Q10713 (See protein sequence)
Recommended Name: Mitochondrial-processing peptidase subunit alpha precursor  
Size: 525 amino acids; 58253 Da
Subunit: Heterodimer of alpha and beta subunits (By similarity)
Mass spectrometry: Mass=54624.57; Method=MALDI; Range=33-525; Source=PubMed:11840567;
Caution: Does not seem to have a protease activity as it lack the zinc-binding site
Sequence caution: Sequence=AAH33103.2; Type=Erroneous initiation; Sequence=BAA04643.1; Type=Erroneous initiation;
Sequence=BAA09472.2; Type=Erroneous initiation;
Secondary accessions: Q16639 Q5SXM9 Q8N513

Explore the universe of human proteins at neXtProt for PMPCA: NX_Q10713

Explore proteomics data for PMPCA at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys53, Lys103, Lys232, Lys269, Lys299, Lys488
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PMPCA (Q10713) (see all 6)
     GLESCSFLE  FSAGGPGKGM  RENTVGLHRFCP  YPNIPLSSPLPGVPKP 


    See PMPCA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001269873.1  NP_001269875.1  NP_055975.1  

    ENSEMBL proteins: 
     ENSP00000360785   ENSP00000360782   ENSP00000408393   ENSP00000416702  
    Reactome Protein details: Q10713

    PMPCA Human Recombinant Protein Products:

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    Novus Biologicals PMPCA Protein
    Novus Biologicals PMPCA Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    PMPCA Antibody Products:

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    LSBio Antibodies in human, mouse, rat for PMPCA

    PMPCA Assay Products:

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    GenScript Custom Assay Services for PMPCA
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR001431 Pept_M16_Zn_BS
     IPR011765 Pept_M16_N
     IPR011237 Pept_M16_dom
     IPR007863 Peptidase_M16_C
     IPR011249 Metalloenz_LuxS/M16

    Graphical View of Domain Structure for InterPro Entry Q10713

    ProtoNet protein and cluster: Q10713

    1 Blocks protein domain: IPB001431 Insulinase-like peptidase

    UniProtKB/Swiss-Prot: MPPA_HUMAN, Q10713
    Similarity: Belongs to the peptidase M16 family


    PMPCA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MPPA_HUMAN, Q10713
    Function: Cleaves presequences (transit peptides) from mitochondrial protein precursors (By similarity)
    Catalytic activity: Release of N-terminal transit peptides from precursor proteins imported into the
    mitochondrion, typically with Arg in position P2

         Enzyme Number (IUBMB): EC 3.4.24.641 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004222metalloendopeptidase activity TAS10942759
    GO:0046872metal ion binding IEA--
         
    PMPCA for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PMPCA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PMPCA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PMPCA
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PMPCA

    miRNA
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    miRTarBase miRNAs that target PMPCA:
    hsa-mir-423-5p (MIRT038065), hsa-mir-26b-5p (MIRT028878), hsa-let-7e-5p (MIRT051702)

    Block miRNA regulation of human, mouse, rat PMPCA using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate PMPCA
    SwitchGear 3'UTR luciferase reporter plasmidPMPCA 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PMPCA

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: PMPCA (NM_015160)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PMPCA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PMPCA

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PMPCA 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PMPCA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MPPA_HUMAN, Q10713: Mitochondrion matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS10942759
    GO:0005759mitochondrial matrix IEA--

    PMPCA for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PMPCA About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    2Mitochondrial Protein Import
    Mitochondrial Protein Import
    33-phosphoinositide degradation
    3-phosphoinositide degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for PMPCA
        3-phosphoinositide degradation

    1 Reactome Pathway for PMPCA
        Mitochondrial protein import



    PMPCA for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PMPCA
    Interactions:

        GeneGlobe Interaction Network for PMPCA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PMPCA (Q107132, 3 ENSP000003607824) via UniProtKB, MINT, STRING, and/or I2D (see all 336)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PMPCBO754392, 3, ENSP000002492694MINT-8079030 I2D: score=9 STRING: ENSP00000249269
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    HSPD1P108092, 3, ENSP000003400194MINT-8079030 I2D: score=1 STRING: ENSP00000340019
    DPH5Q9H2P93, ENSP000003591274I2D: score=2 STRING: ENSP00000359127
    MARK2Q7KZI73, ENSP000003891844I2D: score=2 STRING: ENSP00000389184
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis TAS10942759
    GO:0006626protein targeting to mitochondrion TAS--
    GO:0044267cellular protein metabolic process TAS--

    PMPCA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PMPCA (MPPA)

    1 HMDB Compound for PMPCA    About this table
    CompoundSynonyms CAS #PubMed Ids
    ZincZinc (see all 2)7440-66-6--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PMPCA gene (3 alternative transcripts): 
    NM_001282944.1  NM_001282946.1  NM_015160.2  

    Unigene Cluster for PMPCA:

    Peptidase (mitochondrial processing) alpha
    Hs.495471  [show with all ESTs]
    Unigene Representative Sequence: AK091455
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371720(uc011mdy.1 uc010nbk.2) ENST00000371717(uc004chl.3 uc010nbl.3 uc011mdz.2)
    ENST00000462616(uc004chm.1) ENST00000444897 ENST00000399219(uc004chn.1)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PMPCA using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate PMPCA
    SwitchGear 3'UTR luciferase reporter plasmidPMPCA 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PMPCA
    Predesigned siRNA for gene silencing in human, mouse, rat PMPCA
    Clone
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    OriGene clones in human, mouse for PMPCA (see all 6)
    OriGene ORF clones in mouse, rat for PMPCA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PMPCA (NM_015160)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PMPCA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PMPCA
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for PMPCA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PMPCA
      QuantiTect SYBR Green Assays in human, mouse, rat PMPCA
      QuantiFast Probe-based Assays in human, mouse, rat PMPCA

    Additional mRNA sequence: 

    AK091455.1 AK129769.1 AK296617.1 AK299304.1 AK307206.1 AK308104.1 BC004342.1 BC022949.1 
    BC033103.1 BC111399.1 BC114360.1 BC132724.1 BC136599.1 D21064.1 D50913.2 

    18 DOTS entries:

    DT.87017052  DT.100811261  DT.100811258  DT.97860538  DT.100767920  DT.102832211  DT.99937015  DT.97860540 
    DT.91767290  DT.100830975  DT.121153895  DT.40112890  DT.75139177  DT.121153856  DT.121153859  DT.121153894 
    DT.91767293  DT.95325840 

    Selected AceView cDNA sequences (see all 427):

    BU161894 BQ892023 BU167118 BQ056962 BM840126 AL527536 BM976211 CB163620 
    BQ063146 BM767086 AI127345 CR625519 BP347910 BM998371 D50913 BQ057922 
    BQ054280 BG109628 AU129817 AA333121 BU194247 BM841955 D21064 BX422327 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PMPCA (see all 14)    About this scheme

    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:                                                                                                                                                            

    ExUns: 15a · 15b · 15c
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for PMPCA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PMPCA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGCCCCGCA
    PMPCA Expression
    About this image

    PMPCA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PMPCA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.495471
        Custom PCR Arrays for PMPCA
    Primer
    Products:
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PMPCA
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    QuantiFast Probe-based Assays in human, mouse, rat PMPCA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PMPCA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PMPCA gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pmpca1 , 5 peptidase (mitochondrial processing) alpha1, 5 85.56(n)1
    91.41(a)1
      2 (18.88 cM)5
    668651  NM_173180.31  NP_775272.11 
     263893395 
    chicken
    (Gallus gallus)
    Aves PMPCA1 peptidase (mitochondrial processing) alpha 73.37(n)
    82.79(a)
      417134  NM_001006197.1  NP_001006197.1 
    lizard
    (Anolis carolinensis)
    Reptilia PMPCA6
    peptidase (mitochondrial processing) alpha
    81(a)
    1 ↔ 1
    GL344440.1(1458-18055)
    African clawed frog
    (Xenopus laevis)
    Amphibia CF286299.12   -- 81.8(n)    CF286299.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pmpca1 peptidase (mitochondrial processing) alpha 71.79(n)
    80.28(a)
      492801  NM_001007442.1  NP_001007443.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG87281 CG8728 57.34(n)
    53.86(a)
      35748  NM_136489.2  NP_610333.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mppa-11 mppa-1 46.79(n)
    41.03(a)
      171737  NM_058487.5  NP_490888.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MAS2(YHR024C)4
    MAS21
    Larger subunit of the mitochondrial processing protease more4
    MAS21
    48.46(n)1
    39.76(a)1
      8(159192-157744)4
    8564191, 4  NP_011889.11, 4 
    rice
    (Oryza sativa)
    Liliopsida Os01g09663001 Os01g0966300 45.18(n)
    36.2(a)
      4324473  NM_001052036.1  NP_001045501.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PMPCA gene
    UQCRC22  
    1 SIMAP similar gene for PMPCA using alignment to 6 protein entries:     MPPA_HUMAN (see all proteins):
    PMPCB

    PMPCA for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for PMPCA
    PGOHUM00000242597 PGOHUM00000245623


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PMPCA (see all 389)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1385235701,2
    C--139307070(+) GATGTC/TTGAGA 1 -- int10--------
    rs1467331701,2
    --139307112(+) ATTATC/GAAGTT 1 -- int10--------
    rs111459351,2
    F--139307160(+) GATAAG/TTTTTG 1 -- int10--------
    rs38412021,2
    C--139307194(+) AAAAA-/ATTGTG 1 -- int10--------
    rs569784601,2
    C--139307195(+) AAAAA-/ATTGTG 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1177101361,2
    C,F--139307215(+) TTCAGG/AGATAG 1 -- int12Minor allele frequency- A:0.01NA EU 713
    rs1389082761,2
    C--139307224(+) AGCCTA/GGATTG 1 -- int10--------
    rs1879515101,2
    C--139307271(+) CTGCTC/TGATTT 2 R * stg10--------
    rs2000197501,2
    --139307315(+) AAGCAC/TGGGGG 2 H syn10--------
    rs1493770261,2
    C--139307379(+) TTGGGG/TCCTTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for PMPCA (139305110 - 139318213 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PMPCA (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2676242CNV Deletion23128226
    nsv509333CNV Insertion20534489
    nsv6766CNV Insertion18451855
    nsv894367CNV Loss21882294
    nsv894364CNV Loss21882294
    nsv894366CNV Loss21882294
    nsv894294CNV Loss21882294
    dgv8395n71CNV Loss21882294
    nsv894365CNV Loss21882294
    dgv8390n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 613036    OMIM disorders: --

    5 diseases for PMPCA:    
    About MalaCards
    filariasis    inflammatory bowel disease    tuberculosis    malaria
    breast cancer


    PMPCA for disorders           About GeneDecksing

    Genetic Association Database (GAD): PMPCA
    Human Genome Epidemiology (HuGE) Navigator: PMPCA (1 document)

    Export disorders for PMPCA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for PMPCA gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with PMPCA)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 8590280)1, 2, 3 Nagase T.... Nomura N. (DNA Res. 1995)
    2. 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. (PubMed id 7788527)1, 2, 3 Nagase T.... Nomura N. (DNA Res. 1995)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Cluster analysis of an extensive human breast cancer cell line protein expression map database. (PubMed id 11840567)1, 2 Harris R.A....Zvelebil M.J. (Proteomics 2002)
    6. Glycine-rich region of mitochondrial processing peptidase alpha-subunit is essential for binding and cleavage of the precursor proteins. (PubMed id 10942759)1, 9 Nagao Y....Ito A. (J. Biol. Chem. 2000)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    8. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (Nature 2012)
    9. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 23203 HGNC: 18667 AceView: PMPCA Ensembl:ENSG00000165688 euGenes: HUgn23203
    ECgene: PMPCA H-InvDB: PMPCA

    (According to HUGE)
    About This Section

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    HUGE: KIAA0123

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PMPCA Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for PMPCA gene:
    Search GeneIP for patents involving PMPCA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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