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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PITRM1 Gene

protein-coding   GIFtS: 53
GCID: GC10M003179

pitrilysin metallopeptidase 1

(Previous name: pitrilysin metalloproteinase 1 )
 Explore 33 diseases affiliated with
PITRM1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PITRM1    

Aliases
for PITRM1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Pitrilysin Metallopeptidase 11 2     PreP Peptidasome2
Pitrilysin Metalloproteinase 11 2 3     Presequence Protease, Mitochondrial2
MP11 2 3     EC 3.4.24.-3
PreP1 2     HPreP1
KIAA11041 3     Metalloprotease 13
HMP11     EC 3.4.248
Metalloprotease 1 (Pitrilysin Family)2     

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


Summaries
for PITRM1 gene

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_008705.16  
Regulatory elements:
   SABiosciences 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 plasmid: PITRM1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PITRM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 3,179,920 bp from pter      End:
 3,215,003 bp from pter
Size:
 35,084 bases      Orientation:
 minus strand

Proteins
for PITRM1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PREP_HUMAN, Q5JRX3 (See protein sequence)
Recommended Name: Presequence protease, mitochondrial precursor  
Size: 1037 amino acids; 117455 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Homodimer (By similarity)
Subcellular location: Mitochondrion matrix
Sequence caution: Sequence=AAH01150.1; Type=Erroneous initiation; Sequence=CAI39997.1; Type=Erroneous gene model
prediction;
Secondary accessions: B3KMJ6 O95204 Q2M2G6 Q4VBR1 Q5JRW7 Q7L5Z7 Q9BSI6 Q9BVJ5 Q9UPP8
Alternative splicing: 2 isoforms:  Q5JRX3-1   Q5JRX3-2   (No experimental confirmation available)

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5JRX3

    • 4/20 DME Specific Peptides for PITRM1 (Q5JRX3) (see all 20)
     QEGWRLE  DSTGVPH  AILGPEN  HLKQIHE 

    PITRM1 Protein expression data from MOPED and PaxDb:    About this image 
    PITRM1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001229236.1  NP_001229238.1  NP_055704.2  

    ENSEMBL proteins: 
     ENSP00000224949   ENSP00000370382   ENSP00000399307   ENSP00000413687   ENSP00000402072  
     ENSP00000391526   ENSP00000401201   ENSP00000370377  

    Human Recombinant Protein Products for PITRM1: 
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    Uscn Proteins for PITRM1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    PITRM1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for PITRM1

    Protein Domains /
    Families
    for PITRM1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PITRM1 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 family: IPB013578 Peptidase M16C associated

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


    Function
    for PITRM1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IMP16849325
    GO:0008047enzyme activator activity TAS9733512
    GO:0008270zinc ion binding IEA--
         
    PITRM1 for ontologies           About GeneDecksing


    Animal Models:
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    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
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    Pathways & Interactions
    for PITRM1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PITRM1

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

    5/54 Interacting proteins for PITRM1 (Q5JRX33 ENSP000003703774) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLATP105153, ENSP000002803464I2D: score=4 STRING: ENSP00000280346
    PDHBP111773, ENSP000003072414I2D: score=4 STRING: ENSP00000307241
    AFG3L2Q9Y4W63, ENSP000002691434I2D: score=1 STRING: ENSP00000269143
    DLSTP369573, ENSP000003353044I2D: score=1 STRING: ENSP00000335304
    DLDP096223, ENSP000002054024I2D: score=4 STRING: ENSP00000205402
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

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

    PITRM1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PITRM1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PITRM1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for PITRM1
    2 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about PITRM1 / PREP 

    Transcripts
    for PITRM1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000480928 ENST00000490510 ENST00000464395 ENST00000224949 ENST00000380994
    ENST00000455371 ENST00000451454 ENST00000424714 ENST00000430362 ENST00000488065
    ENST00000451104 ENST00000380989(uc001igr.2 uc009xhv.2 uc001igt.2 uc010qah.2 uc001igu.1 uc010qai.2)


    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: PITRM1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PITRM1 (see all 7)
    OriGene shRNA RFP: PITRM1
    OriGene siRNA: PITRM1
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PITRM1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PITRM1

    Additional cDNA 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 

    24/375 AceView cDNA sequences (see all 375):

    CB150643 AI624205 BM737694 AU121618 BM744387 AA150249 BQ181794 AI040522 
    BU726112 AI283373 AB029027 BP364661 CB136638 W17041 AI400259 BQ694427 
    N90925 CA436427 CA391713 AA322650 BE796809 AA369870 BM741464 BM807033 

    GeneLoc Exon Structure

    5/20 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

    Expression
    for PITRM1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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

    PITRM1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyMetanephrosKidney
    Neural TubeMesencephalic Ventricular ZoneNeural Tube
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See PITRM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PITRM1

    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

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    Orthologs
    for PITRM1 gene

    (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
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PITRM1 gene from 10/35 species (see all 35)    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 72.4(n)
    77.48(a)    		   420462  XM_418564.2  XP_418564.2 
    lizard
    (Anolis carolinensis)    		 Reptilia PITRM16
    		 --
    		 77(a)
    		 1 ↔ 1
    		 6(9304416-9327671)
    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 47.99(n)
    40.56(a)    		   35475  NM_001043005.1  NP_001036470.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea C05D11.16
    		 Uncharacterized protein C05D11.1
    		 15(a)
    		 1 ↔ 1
    		 III(6436556-6439906)
    A. gossypii yeast
    (Ashbya gossypii)    		 Saccharomycetes AGOS_ADR184W1 ADR184Wp 46.77(n)
    38.63(a)    		   4620442  NM_209633.1  NP_984280.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ATZNMP6
    PREP26
    		 presequence protease 2
    		 27(a)
    26(a)
    		 possible ortholog
    possible ortholog
    		 3(6625421-6632033)
    1(18367593-18375381)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 M16 domain containing zinc peptidase, putative, ex...
    		 26(a)
    		 1 ↔ 1
    		 2(32056369-32064587)


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

    Paralogs
    for PITRM1 gene

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

    Genomic Variants
    for PITRM1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/950 NCBI SNPs in PITRM1 are shown (see all 950)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1181767281,2
    		F--3179510(+) CTCCTG/ATAGGG 3 -- int11Minor allele frequency- A:0.03NA 120
    rs1387462781,2
    		C--3179619(+) ACAAA-/CTCTGTT 3 -- int10--------
    rs1816982381,2
    		--3179638(+) TCAGAG/TTCCGA 3 -- int10--------
    rs1848618471,2
    		--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
    		--3179730(+) TGCTTA/CTCAGG 3 -- int10--------

    HapMap Linkage Disequilibrium report for PITRM1 (3179920 - 3215003 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for PITRM1
         3 CNVs: 6858 9137 3789

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    Disorders / Diseases
    for PITRM1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PITRM1 for disorders           About GeneDecksing

    20/33 diseases for PITRM1 (see all 33):    About MalaCards
    anaplastic large cell lymphoma    vernal keratoconjunctivitis    bullous pemphigoid    idiopathic pulmonary fibrosis
    keratoconjunctivitis    pulmonary fibrosis    conduct disorder    allergic asthma
    liver cirrhosis    cystic fibrosis    nephrotic syndrome    fibrosis
    rheumatoid arthritis    multiple sclerosis    adhd    kidney disease
    asthma    choriocarcinoma    alzheimer's disease    arthritis

    2 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: PITRM1 (6 documents)

    Export disorders for PITRM1 gene to outside databases

    Publications
    for PITRM1 gene

    (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

    PubMed articles for PITRM1 gene, integrated from 9 sources (see all 70):
    (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. (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. (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. (1999)
    4. Mammalian pitrilysin: substrate specificity and mitochondrial targeting. (PubMed id 19196155)1, 2 Chow K.M....Hersh L.B. (2009)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    7. 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. (2004)
    8. [Ecological sterotypes of defensive behavior in fish under the action of chemical danger signals] (PubMed id 1036083)1, 3 Marusov E.V. (1976)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. Decreased proteolytic activity of the mitochondrial am yloid-b degrading enzyme, PreP peptidasome, in Alzheimer's disease brain mitocho ndria. (PubMed id 21750375)1 Alikhani N....Yan S.S. (2011)

    External Searches for PITRM1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PITRM1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10531 HGNC: 17663 AceView: PITRM1 Ensembl:ENSG00000107959 euGenes: HUgn10531
    ECgene: PITRM1 H-InvDB: PITRM1

    Other Databases showing PITRM1 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1104

    Specialized Databases showing PITRM1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PITRM1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for PITRM1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PITRM1 gene:
    Search GeneIP for patents involving PITRM1

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