Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



PITRM1 Gene

protein-coding   GIFtS: 57
GCID: GC10M003179

Pitrilysin Metallopeptidase 1

(Previous name: pitrilysin metalloproteinase 1)
Alzheimer's & Parkinson's Diseases Congress
  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)
About This Section

TryGeneCards Plus

Aliases
Pitrilysin Metallopeptidase 11 2     EC 3.4.24.-3
Pitrilysin Metalloproteinase 11 2 3     KIAA11043
PreP Peptidasome1 2     hMP13
MP12 3     hPreP3
PreP2     Metalloprotease 13
Metalloprotease 1 (Pitrilysin Family)2     EC 3.4.248
Presequence Protease, Mitochondrial2     

External Ids:    HGNC: 176631   Entrez Gene: 105312   Ensembl: ENSG000001079597   UniProtKB: Q5JRX33   

Export aliases for PITRM1 gene to outside databases

Previous GC identifers: GC10M003227 GC10M003133 GC10M003169


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

GeneCards Summary for PITRM1 Gene:
PITRM1 (pitrilysin metallopeptidase 1) is a protein-coding gene. Diseases associated with PITRM1 include vernal keratoconjunctivitis, and keratoconjunctivitis. GO annotations related to this gene include enzyme activator activity and metalloendopeptidase activity.

UniProtKB/Swiss-Prot: PREP_HUMAN, Q5JRX3
Function: ATP-independent protease that degrades mitochondrial transit peptides after their cleavage. Also
degrades other unstructured peptides. Specific for peptides in the range of 10 to 65 residues. Able to degrade
amyloid beta A4 (APP) protein when it accumulates in mitochondrion, suggesting a link with Alzheimer disease.
Shows a preference for cleavage after small polar residues and before basic residues, but without any positional
preference

Gene Wiki entry for PITRM1 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000010.11  NT_008705.17  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PITRM1 gene promoter:
         AML1a   NF-kappaB   HNF-1A   C/EBPalpha   HNF-1   SEF-1 (1)   NF-kappaB1   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPITRM1 promoter sequence
   Search Chromatin IP Primers for PITRM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PITRM1


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

Entrez Gene cytogenetic band: 10p15.2   Ensembl cytogenetic band:  10p15.2   HGNC cytogenetic band: 10p15.2

PITRM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PITRM1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M003179:  view genomic region     (about GC identifiers)

Start:
3,179,919 bp from pter      End:
3,215,033 bp from pter
Size:
35,115 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: PREP_HUMAN, Q5JRX3 (See protein sequence)
Recommended Name: Presequence protease, mitochondrial precursor  
Size: 1037 amino acids; 117413 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Homodimer (By similarity)
Sequence caution: Sequence=AAH01150.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAI39997.1; Type=Erroneous gene model prediction;
1 PDB 3D structure from and Proteopedia for PITRM1:
4L3T (3D)    
Secondary accessions: B3KMJ6 B4E0J8 C9JSL2 E7ES23 O95204 Q2M2G6 Q4VBR1 Q5JRW7 Q7L5Z7 Q9BSI6
Q9BVJ5 Q9UPP8
Alternative splicing: 3 isoforms:  Q5JRX3-1   Q5JRX3-2   Q5JRX3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PITRM1: NX_Q5JRX3

Explore proteomics data for PITRM1 at MOPED

Post-translational modifications: 

  • The disulfide bond may lock the enzyme in a closed conformation under oxidized conditions, suggesting that it may
    participate in redox regulation of the enzyme1
  • Ubiquitination2 at Lys305, Lys884
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PITRM1 (Q5JRX3) (see all 20)
     QEGWRLE  DSTGVPH  AILGPEN  HLKQIHE 


    See PITRM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001229236.1  NP_001229238.1  NP_055704.2  

    ENSEMBL proteins: 
     ENSP00000224949   ENSP00000370382   ENSP00000399307   ENSP00000413687   ENSP00000402072  
     ENSP00000391526   ENSP00000401201   ENSP00000370377  

    PITRM1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for PITRM1
    OriGene Protein Over-expression Lysate for PITRM1
    OriGene MassSpec for PITRM1
    OriGene Custom Protein Services for PITRM1
    GenScript Custom Purified and Recombinant Proteins Services for PITRM1
    Novus Biologicals PITRM1 Protein
    Novus Biologicals PITRM1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    PITRM1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PITRM1
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for PITRM1
    Novus Biologicals PITRM1 Antibodies
    Abcam antibodies for PITRM1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for PITRM1
    LSBio Antibodies in human, mouse, rat for PITRM1

    PITRM1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PITRM1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PITRM1
    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)
    About This Section

    TryGeneCards Plus
    5 InterPro protein domains:
     IPR011765 Pept_M16_N
     IPR011237 Pept_M16_dom
     IPR007863 Peptidase_M16_C
     IPR011249 Metalloenz_LuxS/M16
     IPR013578 Peptidase_M16C_assoc

    Graphical View of Domain Structure for InterPro Entry Q5JRX3

    ProtoNet protein and cluster: Q5JRX3

    1 Blocks protein domain: IPB013578 Peptidase M16C associated

    UniProtKB/Swiss-Prot: PREP_HUMAN, Q5JRX3
    Similarity: Belongs to the peptidase M16 family. PreP subfamily


    PITRM1 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PREP_HUMAN, Q5JRX3
    Function: ATP-independent protease that degrades mitochondrial transit peptides after their cleavage. Also
    degrades other unstructured peptides. Specific for peptides in the range of 10 to 65 residues. Able to degrade
    amyloid beta A4 (APP) protein when it accumulates in mitochondrion, suggesting a link with Alzheimer disease.
    Shows a preference for cleavage after small polar residues and before basic residues, but without any positional
    preference
    Enzyme regulation: Inhibited by nickel and zinc excess, and slightly activated by manganese

         Enzyme Numbers (IUBMB): EC 3.4.24.-1 EC 3.4.242

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004222metalloendopeptidase activity IMP16849325
    GO:0008047enzyme activator activity TAS9733512
    GO:0046872metal ion binding IEA--
         
    PITRM1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Pitrm1):
     mortality/aging 

    PITRM1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PITRM1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PITRM1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PITRM1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PITRM1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PITRM1:
    hsa-mir-193b-3p (MIRT041475), hsa-mir-92a-3p (MIRT049603), hsa-mir-1303 (MIRT035886), hsa-mir-502-3p (MIRT037980), hsa-mir-93-3p (MIRT038903)

    Block miRNA regulation of human, mouse, rat PITRM1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate PITRM1
    SwitchGear 3'UTR luciferase reporter plasmidPITRM1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PITRM1
    Predesigned siRNA for gene silencing in human, mouse, rat PITRM1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PITRM1

    Clone
    Products:
         
    OriGene clones in human, mouse for PITRM1 (see all 8)
    OriGene ORF clones in mouse, rat for PITRM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PITRM1 (NM_014889)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PITRM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PITRM1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PITRM1
    Browse ESI BIO Cell Lines and PureStem Progenitors for PITRM1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PITRM1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    PREP_HUMAN, Q5JRX3: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus4
    chloroplast1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix IDA16849325

    PITRM1 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).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PITRM1
    Interactions:

        Search GeneGlobe Interaction Network for PITRM1

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

    Selected Interacting proteins for PITRM1 (Q5JRX33 ENSP000003703774) via UniProtKB, MINT, STRING, and/or I2D (see all 83)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLATP105153, ENSP000002803464I2D: score=4 STRING: ENSP00000280346
    PDHBP111773, ENSP000003072414I2D: score=4 STRING: ENSP00000307241
    DLSTP369573, ENSP000003353044I2D: score=1 STRING: ENSP00000335304
    HSPA9P386463, ENSP000002971854I2D: score=1 STRING: ENSP00000297185
    IPO5O004103, ENSP000002615744I2D: score=1 STRING: ENSP00000261574
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IMP16849325
    GO:0043085positive regulation of catalytic activity TAS9733512

    PITRM1 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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PITRM1 (PREP)

    2 Novoseek inferred chemical compound relationships for PITRM1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    matrigel 43.2 1 12437074 (1)
    1,10-phenanthroline 39.3 1 15057751 (1)



    PITRM1 for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for PITRM1 gene (4 alternative transcripts): 
    NM_014968.1  NM_001242307.1  NM_001242309.1  NM_014889.3  

    Unigene Cluster for PITRM1:

    Pitrilysin metallopeptidase 1
    Hs.528300  [show with all ESTs]
    Unigene Representative Sequence: CR749279
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000490510 ENST00000464395 ENST00000224949 ENST00000380994 ENST00000455371
    ENST00000451454 ENST00000424714 ENST00000430362 ENST00000488065 ENST00000451104
    ENST00000380989(uc001igr.2 uc009xhv.2 uc001igt.2 uc010qah.2 uc001igu.1 uc010qai.2)


    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PITRM1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate PITRM1
    SwitchGear 3'UTR luciferase reporter plasmidPITRM1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PITRM1
    Predesigned siRNA for gene silencing in human, mouse, rat PITRM1
    Clone
    Products:
         
    OriGene clones in human, mouse for PITRM1 (see all 8)
    OriGene ORF clones in mouse, rat for PITRM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PITRM1 (NM_014889)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PITRM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PITRM1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PITRM1
    OriGene qSTAR qPCR primer pairs in human, mouse for PITRM1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PITRM1
      QuantiTect SYBR Green Assays in human, mouse, rat PITRM1
      QuantiFast Probe-based Assays in human, mouse, rat PITRM1

    Additional mRNA sequence: 

    AB029027.2 AF061243.1 AK001183.1 AK002061.1 AK023476.1 AK225084.1 AK293788.1 AK294865.1 
    AK299464.1 AK303406.1 AK315117.1 BC001150.1 BC005025.1 BC045577.1 BC095422.1 BC111987.1 
    BC113369.1 CR749279.1 

    23 DOTS entries:

    DT.217901  DT.100814338  DT.97816522  DT.40212914  DT.95344986  DT.91961196  DT.86848712  DT.121290178 
    DT.99949420  DT.91771055  DT.101972331  DT.121290184  DT.217898  DT.91984019  DT.95284488  DT.100814340 
    DT.121290210  DT.121290256  DT.95284489  DT.99952252  DT.100662751  DT.95151118  DT.95244203 

    Selected AceView cDNA sequences (see all 375):

    CB265572 CB135304 BM807033 AI283373 BM744387 BM835680 CN482302 AA367068 
    BU726112 BQ181794 BM741920 AA336452 AA150249 W17041 CB136638 AI825168 
    BM693764 BM836843 AI190451 AI400259 CR598931 CB150643 BM771117 BI871340 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PITRM1 (see all 20)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c · 10d · 10e ^
    SP1:                          -     -     -     -     -                 -                                                           -                           
    SP2:                          -     -     -     -     -                 -                                                           -                           
    SP3:                                      -     -     -                 -                                                           -                           
    SP4:                                                                                                                                                            
    SP5:                          -     -     -     -     -                 -                                   -                       -                           

    ExUns: 11a · 11b · 11c · 11d ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28a · 28b ^
    SP1:                                                                                      -                 -                             -     -     -         
    SP2:                                                  -                                   -                 -                             -     -     -         
    SP3:                                                                                      -     -     -     -                             -     -     -         
    SP4:                                                                                                                                      -     -     -         
    SP5:                                                                                                                                                            

    ExUns: 29a · 29b ^ 30a · 30b ^ 31a · 31b ^ 32a · 32b
    SP1:                    -                           
    SP2:                    -                           
    SP3:                    -                           
    SP4:  -                 -                           
    SP5:                                                


    ECgene alternative splicing isoforms for PITRM1

    (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)
    About This Section

    TryGeneCards Plus

    PITRM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGAATTTTC
    PITRM1 Expression
    About this image


    PITRM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Mesencephalic Ventricular Zone
     
     Thymus (Hematopoietic System)
             Thymus
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Kidney (Urinary System)
             Metanephros
    PITRM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PITRM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.528300

    UniProtKB/Swiss-Prot: PREP_HUMAN, Q5JRX3
    Tissue specificity: Widely expressed. Expressed at higher level in muscle and heart compared to brain, pancreas,
    liver, lung and placenta

        Custom PCR Arrays for PITRM1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PITRM1
    OriGene qSTAR qPCR primer pairs in human, mouse for PITRM1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PITRM1
    QuantiTect SYBR Green Assays in human, mouse, rat PITRM1
    QuantiFast Probe-based Assays in human, mouse, rat PITRM1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PITRM1

    (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)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PITRM1 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pitrm11 , 5 pitrilysin metallepetidase 11, 5 81.72(n)1
    86.68(a)1
      13 (3.25 cM)5
    696171  NM_145131.11  NP_660113.11 
     65481575 
    chicken
    (Gallus gallus)
    Aves PITRM11 pitrilysin metallopeptidase 1 72.23(n)
    76.92(a)
      420462  XM_418564.3  XP_418564.2 
    lizard
    (Anolis carolinensis)
    Reptilia PITRM16
    pitrilysin metallopeptidase 1
    76(a)
    1 ↔ 1
    6(9304416-9331346)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC691332 hypothetical protein MGC69133 74.01(n)    BC057754.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.842 Danio rerio mRNA similar to pitrilysin metalloprotease more 74.78(n)    BC045351.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG31071 CG3107 48.11(n)
    40.7(a)
      35475  NM_001043005.2  NP_001036470.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CYM1(YDR430C)4 Lysine-specific metalloprotease of the mitochondrial more   --   4(1328470-1325501) 852041  NP_010718.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PREP11 PREP1 44.31(n)
    34.28(a)
      821451  NM_112804.4  NP_188548.2 


    ENSEMBL Gene Tree for PITRM1 (if available)
    TreeFam Gene Tree for PITRM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
      --

    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for PITRM1 (see all 926)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs719036771,2
    C--3139074(+) AAAAA-/AGAAGAA 3 -- int10--------
    rs1387462781,2
    C--3179619(+) ACAAA-/CTTCTGT 3 -- int10--------
    rs1816982381,2
    --3179638(+) TCAGAG/TTCCGA 3 -- int10--------
    rs1848618471,2
    C--3179652(+) CCAAGA/GAAGAG 3 -- int10--------
    rs112517441,2
    C,F,A,H--3179663(+) CTAGCG/ACGGAG 3 -- int123Minor allele frequency- A:0.18NS EA NA 2542
    rs1504618761,2
    --3179664(+) TAGCGC/TGGAGG 3 -- int10--------
    rs1140126791,2
    F--3179665(+) AGCGCG/AGAGGC 3 -- int11Minor allele frequency- A:0.04WA 118
    rs48811071,2
    C,F,A--3179703(+) GCAAGC/TGCTTA 3 -- int110Minor allele frequency- T:0.33NA WA CSA EA EU 739
    rs48811081,2
    C,F,A--3179708(+) CGCTTA/GCTCAC 3 -- int110Minor allele frequency- G:0.35NA WA CSA EA EU 777
    rs1893383881,2
    C--3179730(+) TGCTTA/CTCAGG 3 -- int10--------

    HapMap Linkage Disequilibrium report for PITRM1 (3179919 - 3215033 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PITRM1 (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661288CNV Deletion23128226
    esv2730995CNV Deletion23290073
    esv2731284CNV Deletion23290073
    dgv593n71CNV Loss21882294
    dgv595n71CNV Loss21882294
    nsv894778CNV Loss21882294
    esv2750891CNV Loss17911159
    nsv894779CNV Loss21882294
    nsv894762CNV Gain21882294
    dgv35n21CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PITRM1
    DNA2.0 Custom Variant and Variant Library Synthesis for PITRM1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    Selected diseases for PITRM1 (see all 35):    
    About MalaCards
    vernal keratoconjunctivitis    keratoconjunctivitis    bullous pemphigoid    allergic asthma
    idiopathic pulmonary fibrosis    conduct disorder    anaplastic large cell lymphoma    pulmonary fibrosis
    nephrotic syndrome    liver cirrhosis    choriocarcinoma    asthma
    cystic fibrosis    osteoarthritis    kidney disease    multiple sclerosis
    obesity    tonsillitis    type 1 diabetes    arthritis


    PITRM1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for PITRM1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    necrosis 0 2 8556714 (1), 15671071 (1)
    tumors 0 1 8556714 (1)

    Genetic Association Database (GAD): PITRM1
    Human Genome Epidemiology (HuGE) Navigator: PITRM1 (6 documents)

    Export disorders for PITRM1 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

    TryGeneCards Plus

    PubMed articles for PITRM1 gene, integrated from 10 sources (see all 76):
    (articles sorted by number of sources associating them with PITRM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Degradation of the amyloid beta-protein by the novel mitochondrial peptidasome, PreP. (PubMed id 16849325)1, 2, 3 Falkevall A.... Glaser E. (J. Biol. Chem. 2006)
    2. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2, 3 Kikuno R.... Ohara O. (DNA Res. 1999)
    3. Cloning, expression, and characterization of human metalloprotease 1: a novel member of the pitrilysin family of metalloendoproteases. (PubMed id 10360838)1, 2, 9 Mzhavia N.... Devi L.A. (DNA Cell Biol. 1999)
    4. 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)
    5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    6. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    7. Genetic and biochemical studies of SNPs of the mitochondrial A beta-degrading protease, hPreP. (PubMed id 19962426)1, 4 Pinho C.M....Graff C. (Neurosci. Lett. 2010)
    8. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PubMed id 19724895)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2009)
    9. Mammalian pitrilysin: substrate specificity and mitochondrial targeting. (PubMed id 19196155)1, 2 Chow K.M....Hersh L.B. (Biochemistry 2009)
    10. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. (PubMed id 18951430)1, 4 Anney R.J....Gill M. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    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

    TryGeneCards Plus
    Entrez Gene: 10531 HGNC: 17663 AceView: PITRM1 Ensembl:ENSG00000107959 euGenes: HUgn10531
    ECgene: PITRM1 H-InvDB: PITRM1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1104

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for PITRM1 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 PITRM1 gene:
    Search GeneIP for patents involving PITRM1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     Browse Small Molecules at EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of PITRM1
     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for PITRM1  
     OriGene qPCR primer pairs and template standards for PITRM1   OriGene Protein Over-expression Lysate for PITRM1  
     OriGene MassSpec something-or-other for PITRM1   OriGene clones in human, mouse for PITRM1  
     OriGene qSTAR qPCR primer pairs in human, mouse for PITRM1   OriGene Purified Protein for PITRM1  
     OriGene ORF clones in mouse, rat for PITRM1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PITRM1   OriGene Custom Protein Services for PITRM1  

     
     
     Block miRNA regulation of human, mouse, rat PITRM1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing PITRM1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PITRM1 Predesigned siRNA for gene silencing in human, mouse, rat PITRM1
     QuantiFast Probe-based Assays in human, mouse, rat PITRM1 QuantiTect SYBR Green Assays in human, mouse, rat PITRM1
     Custom PCR Arrays for PITRM1 Search Chromatin IP Primers for PITRM1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PITRM1  Search GeneGlobe Interaction Network for PITRM1
     Regulatory tfbs in PITRM1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for PITRM1 GenScript cDNA clones with any tag delivered in your preferred vector for PITRM1
     GenScript Custom Assay Services for PITRM1 GenScript Custom overexpressing Cell Line Services for PITRM1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for PITRM1 (PREP)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     PITRM1 antibodies
     PITRM1 proteins
     PITRM1 lysates
     Antibodies for PITRM1
     See all of Abcam's Antibodies, Kits and Proteins for PITRM1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for PITRM1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PITRM1
     SwitchGear 3'UTR luciferase reporter plasmids for PITRM1
     SwitchGear Promoter luciferase reporter plasmids for PITRM1
     ThermoFisher Antibody for PITRM1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PITRM1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PITRM1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PITRM1
     LSBio Antibodies in human, mouse, rat for PITRM1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      PITRM1 gene at Home site.
    Version: 3.12.142 28 July 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4