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XPNPEP1 Gene

protein-coding   GIFtS: 62
GCID: GC10M111614

X-Prolyl Aminopeptidase (Aminopeptidase P) 1, Soluble

(Previous name: X-prolyl aminopeptidase (aminopeptidase P)-like)
(Previous symbols: XPNPEP, XPNPEPL1, XPNPEPL)
  See XPNPEP1-related disease
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
X-Prolyl Aminopeptidase (Aminopeptidase P) 1, Soluble1 2     X-Prolyl Aminopeptidase 1, Soluble2 3
XPNPEPL1 2 3 5     EC 3.4.11.93 8
XPNPEPL11 2 3     SAMP2 5
XPNPEP1 2     X-Prolyl Aminopeptidase (Aminopeptidase P)-Like1
Aminoacylproline Aminopeptidase2 3     APP12
Cytosolic Aminopeptidase P2 3     Aminopeptidase P, Cytosolic2
Soluble Aminopeptidase P2 3     Xaa-Pro Aminopeptidase 12
X-Pro Aminopeptidase 12 3     sAmp3

External Ids:    HGNC: 128221   Entrez Gene: 75112   Ensembl: ENSG000001080397   OMIM: 6024435   UniProtKB: Q9NQW73   

Export aliases for XPNPEP1 gene to outside databases

Previous GC identifers: GC10M110517 GC10M110858 GC10M111755 GC10M111289 GC10M105255


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for XPNPEP1 Gene:
This gene encodes the cytosolic form of a metalloaminopeptidase that catalyzes the cleavage of the N-terminal
amino acid adjacent to a proline residue. The gene product may play a role in degradation and maturation of
tachykinins, neuropeptides, and peptide hormones. Alternative splicing results in multiple transcript
variants.(provided by RefSeq, Nov 2009)

GeneCards Summary for XPNPEP1 Gene:
XPNPEP1 (X-prolyl aminopeptidase (aminopeptidase P) 1, soluble) is a protein-coding gene. Diseases associated with XPNPEP1 include mature cataract. GO annotations related to this gene include aminopeptidase activity and protein homodimerization activity. An important paralog of this gene is XPNPEP2.

UniProtKB/Swiss-Prot: XPP1_HUMAN, Q9NQW7
Function: Contributes to the degradation of bradykinin. Catalyzes the removal of a penultimate prolyl residue from
the N-termini of peptides, such as Arg-Pro-Pro

Gene Wiki entry for XPNPEP1 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 at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the XPNPEP1 gene promoter:
         RP58   Sox5   ATF-2   AP-4   Tal-1beta   Evi-1   HNF-4alpha1   E47   CRE-BP1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidXPNPEP1 promoter sequence
   Search Chromatin IP Primers for XPNPEP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat XPNPEP1


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

Entrez Gene cytogenetic band: 10q25.3   Ensembl cytogenetic band:  10q25.1   HGNC cytogenetic band: 10q25.3

XPNPEP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XPNPEP1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M111614:  view genomic region     (about GC identifiers)

Start:
111,624,524 bp from pter      End:
111,683,311 bp from pter
Size:
58,788 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: XPP1_HUMAN, Q9NQW7 (See protein sequence)
Recommended Name: Xaa-Pro aminopeptidase 1  
Size: 623 amino acids; 69918 Da
Cofactor: Binds 2 manganese ions per subunit
Subunit: Homodimer
Sequence caution: Sequence=CAD38640.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for XPNPEP1:
3CTZ (3D)    
Secondary accessions: A8K071 G5E9Y2 O15250 Q53EX6 Q8N3Q0 Q96D23
Alternative splicing: 3 isoforms:  Q9NQW7-1   Q9NQW7-2   Q9NQW7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for XPNPEP1: NX_Q9NQW7

Explore proteomics data for XPNPEP1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys276
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for XPNPEP1 (Q9NQW7) (see all 9)
     NGAIIHY  SGFDGSAG  ALDEIAWL  FGIRIENV 


    See XPNPEP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001161076.1  NP_065116.3  

    ENSEMBL proteins: 
     ENSP00000358697   ENSP00000421566   ENSP00000385388   ENSP00000410318   ENSP00000324011  
     ENSP00000358694  

    XPNPEP1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: X-prolyl aminopeptidase 1
    Aminopeptidases

    3 InterPro protein domains:
     IPR000994 Pept_M24_structural-domain
     IPR001131 Peptidase_M24B_aminopep-P_CS
     IPR000587 Creatinase_N

    Graphical View of Domain Structure for InterPro Entry Q9NQW7

    ProtoNet protein and cluster: Q9NQW7

    UniProtKB/Swiss-Prot: XPP1_HUMAN, Q9NQW7
    Similarity: Belongs to the peptidase M24B family


    Find genes that share domains with XPNPEP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: XPP1_HUMAN, Q9NQW7
    Function: Contributes to the degradation of bradykinin. Catalyzes the removal of a penultimate prolyl residue from
    the N-termini of peptides, such as Arg-Pro-Pro
    Catalytic activity: Release of any N-terminal amino acid, including proline, that is linked to proline, even from
    a dipeptide or tripeptide
    Enzyme regulation: Inhibited by apstatin and the metal ion chelators EDTA and 1,10-phenanthroline. Partially
    inhibited by dithiothreitol. Not inhibited by enalaprilat or amastatin
    Biophysicochemical properties: Kinetic parameters: KM=100.6 uM for bradykinin; KM=308 uM for the tripeptide
    Arg-Pro-Pro; pH dependence: Optimum pH is 8.2;

         Enzyme Number (IUBMB): EC 3.4.11.91 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004177aminopeptidase activity IDA11106490
    GO:0016787hydrolase activity ----
    GO:0030145manganese ion binding IDA18515364
    GO:0042803protein homodimerization activity IPI18515364
    GO:0046872metal ion binding ----
         
    Find genes that share ontologies with XPNPEP1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for XPNPEP1:
     Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Increased gamma-H2AX phosphory 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Xpnpep1):
     craniofacial  growth/size/body  homeostasis/metabolism  mortality/aging  nervous system 
     renal/urinary system 

    Find genes that share phenotypes with XPNPEP1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for XPNPEP1

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    SwitchGear 3'UTR luciferase reporter plasmidXPNPEP1 3' UTR sequence
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    (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
    XPP1_HUMAN, Q9NQW7: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol4
    nucleus4
    mitochondrion2
    endoplasmic reticulum1
    extracellular1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0005829cytosol IEA--

    Find genes that share ontologies with XPNPEP1           About GenesLikeMe


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for XPNPEP1
    Interactions:

        Search GeneGlobe Interaction Network for XPNPEP1

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

    Selected Interacting proteins for XPNPEP1 (Q9NQW72, 3 ENSP000003586944) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GSK3BP498412, 3MINT-8257834 I2D: score=2 
    NUDT3O959892, 3MINT-8265087 I2D: score=2 
    UBE2D3P610772, 3MINT-8276196 I2D: score=2 
    RINT1Q6NUQ13, ENSP000002577004I2D: score=3 STRING: ENSP00000257700
    DISC1Q9NRI53, ENSP000003555964I2D: score=2 STRING: ENSP00000355596
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IDA11106490
    GO:0010815bradykinin catabolic process IDA18515364

    Find genes that share ontologies with XPNPEP1           About GenesLikeMe



    (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
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    Browse Tocris compounds for XPNPEP1 (XPP1)

    2 HMDB Compounds for XPNPEP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CobaltCo (see all 6)7440-48-4--
    Manganesemanganese 7439-96-5--



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for XPNPEP1 gene (2 alternative transcripts): 
    NM_001167604.1  NM_020383.3  

    Unigene Cluster for XPNPEP1:

    X-prolyl aminopeptidase (aminopeptidase P) 1, soluble
    Hs.390623  [show with all ESTs]
    Unigene Representative Sequence: AK095447
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 30):
    ENST00000488118(uc010qra.1 uc010qrb.2) ENST00000369683 ENST00000502935
    ENST00000369658 ENST00000494499 ENST00000494564 ENST00000510988 ENST00000472336
    ENST00000513817 ENST00000508525 ENST00000460055 ENST00000507328 ENST00000512582
    ENST00000509646 ENST00000460523 ENST00000403138 ENST00000430337 ENST00000423625

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    hsa-miR-1237 hsa-miR-29a hsa-miR-29c hsa-miR-619 hsa-miR-548c-3p hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidXPNPEP1 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat XPNPEP1

    Additional mRNA sequence: 

    AF195530.1 AF272981.1 AK093693.1 AK094900.1 AK095447.1 AK223513.1 AK289436.1 AK295756.1 
    AK304367.1 AL833411.1 BC005126.2 BC007579.1 BC013417.2 CR456922.1 NR_030724.1 X95762.1 

    Selected DOTS entries (see all 32):

    DT.100823571  DT.75189613  DT.100000241  DT.91997702  DT.100823568  DT.100823584  DT.121260882  DT.92451275 
    DT.95070191  DT.92451279  DT.100823575  DT.70100934  DT.92451268  DT.100030385  DT.425887  DT.92451280 
    DT.95364598  DT.100714100  DT.100823574  DT.102827189  DT.121260879  DT.121260881  DT.121260918  DT.121260953 

    Selected AceView cDNA sequences (see all 425):

    AU280754 AA453985 CA437752 AA307464 BI755259 AW779610 BC007579 BQ668892 
    BM835145 BU148728 X95762 AA766260 CA443428 D80188 AU121428 BQ008771 
    AI434135 BQ187544 BU849573 AL554231 BQ669868 AU132449 CB135908 BE384760 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for XPNPEP1 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15a · 15b ^ 16a · 16b ^
    SP1:                                      -                                   -     -                 -                                   -                 -   
    SP2:                                      -                                   -     -                 -                                   -                 -   
    SP3:                    -     -           -     -                             -     -                 -                                   -                 -   
    SP4:                                                                                                  -                                   -                     
    SP5:                                                                                                                                      -                 -   

    ExUns: 17a · 17b · 17c ^ 18a · 18b · 18c · 18d ^ 19 ^ 20 ^ 21 ^ 22 ^ 23
    SP1:  -     -           -     -           -                                 
    SP2:  -     -     -     -     -           -                                 
    SP3:  -     -           -     -           -                                 
    SP4:                                                                        
    SP5:  -     -           -                                                   


    ECgene alternative splicing isoforms for XPNPEP1

    (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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    XPNPEP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGACTATATT
    XPNPEP1 Expression
    About this image

    XPNPEP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    XPNPEP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.390623

    UniProtKB/Swiss-Prot: XPP1_HUMAN, Q9NQW7
    Tissue specificity: Expressed in all tissues tested, including pancreas, heart, muscle, kidney, liver, lung and
    brain. Highest levels in pancreas

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    In Situ
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    (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 XPNPEP1 gene from Selected species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Xpnpep11 , 5 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble1, 5 88.34(n)1
    95.2(a)1
      19 (46.91 cM)5
    1707501  NM_133216.31  NP_573479.31 
     529434175 
    chicken
    (Gallus gallus)
    Aves XPNPEP11 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble 76.14(n)
    81.1(a)
      423886  XM_421751.4  XP_421751.2 
    lizard
    (Anolis carolinensis)
    Reptilia XPNPEP16
    X-prolyl aminopeptidase (aminopeptidase P) 1, solu...
    70(a)
    1 ↔ 1
    3(44714675-44761914)
    African clawed frog
    (Xenopus laevis)
    Amphibia BQ897367.12   -- 80.12(n)    BQ897367.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc563662 similar to X-prolyl aminopeptidase (aminopeptidase more 76.86(n)   394106  BC051606.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ApepP1 , 3 aminopeptidase3
    Aminopeptidase P1
    47(a)
    (best of 2)3
    52.75(n)1
    49.67(a)1
      36B43
    350291  NM_001259124.11  NP_001246053.11 
    worm
    (Caenorhabditis elegans)
    Secernentea W03G9.43
    app-11
    aminopeptidase3
    app-11
    41(a)
    (best of 2)3
    50(n)1
    43.96(a)1
      I(4964896-4967072)3
    1721181  NM_059088.41  NP_491489.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FRA1(YLL029W)4
    FRA11
    Protein involved in negative regulation of transcription more4
    FRA11
    49.72(n)1
    44.24(a)1
      12(81461-83710)4
    8506301, 4  NP_013071.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons APP11 APP1 51.08(n)
    45.27(a)
      829829  NM_119840.6  NP_195394.4 
    rice
    (Oryza sativa)
    Liliopsida AK102913.12   -- 74.49(n)    AK102913.1 


    ENSEMBL Gene Tree for XPNPEP1 (if available)
    TreeFam Gene Tree for XPNPEP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for XPNPEP1 gene
    XPNPEP22  
    2 SIMAP similar genes for XPNPEP1 using alignment to 5 protein entries:     XPP1_HUMAN (see all proteins):
    DKFZp686I06222    XPNPEP2

    Find genes that share paralogs with XPNPEP1           About GenesLikeMe



    (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

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    Selected SNPs for XPNPEP1 (see all 1205)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs171268441,2
    C,F,H--111624141(+) GAGTCG/ACAGGC 3 -- ds500111Minor allele frequency- A:0.05NA NS EA WA 1342
    rs1454558591,2
    --111624189(+) TGAGAA/GCTGTG 3 -- ds50010--------
    rs1488365811,2
    C--111624212(+) AGACAC/TTTGTG 3 -- ds50010--------
    rs1168024581,2
    F--111624283(+) GCATAG/CGAATG 3 -- ds50011Minor allele frequency- C:0.03WA 118
    rs21459421,2
    H--111624340(+) TATTAG/TGTTTT 3 -- ds50014Minor allele frequency- T:0.00NS EA 408
    rs1930811911,2
    --111624390(+) TGCGGA/GGAGGC 3 -- ds50010--------
    rs1426682101,2
    --111624450(+) AGAGCA/CAGCAG 3 -- ds50010--------
    rs1147765271,2
    F--111624520(+) AAGACA/GAAGCA 3 -- ds50011Minor allele frequency- G:0.04WA 118
    rs1476503081,2
    C--111624569(+) CTCATC/GAGCAT 3 -- ut31 nc-transcript-variant0--------
    rs1858695061,2
    --111624595(+) TGATGC/TACTAG 3 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for XPNPEP1 (111624524 - 111683311 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for XPNPEP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7211OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing XPNPEP1
    DNA2.0 Custom Variant and Variant Library Synthesis for XPNPEP1

    (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.)
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    OMIM gene information: 602443    OMIM disorders: --

    1 disease for XPNPEP1:    
    About MalaCards
    mature cataract

    2 diseases from the University of Copenhagen DISEASES database for XPNPEP1:
    Amyloidosis     Mature cataract

    Find genes that share disorders with XPNPEP1           About GenesLikeMe

    Genetic Association Database (GAD): XPNPEP1
    Human Genome Epidemiology (HuGE) Navigator: XPNPEP1 (5 documents)

    Export disorders for XPNPEP1 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)
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    PubMed articles for XPNPEP1 gene, integrated from 10 sources (see all 37):
    (articles sorted by number of sources associating them with XPNPEP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and sequence analysis of a human cDNA clone (XPNPEPL) homologous to X-prolyl aminopeptidase (aminopeptidase P). (PubMed id 9465902)1, 2, 9 Vanhoof G.... Scharpe S. (Cytogenet. Cell Genet. 1997)
    2. Cloning, chromosomal sublocalization of the human soluble aminopeptidase P gene (XPNPEP1) to 10q25.3 and conservation of the putative proton shuttle and metal ligand binding sites with XPNPEP2. (PubMed id 10871044)1, 2, 9 Sprinkle T.J.... Ryan J.W. (Arch. Biochem. Biophys. 2000)
    3. Cloning, expression, and characterization of human cytosolic aminopeptidase P: a single manganese(II)-dependent enzyme. (PubMed id 11106490)1, 2, 9 Cottrell G.S.... Turner A.J. (Biochemistry 2000)
    4. Structure of human cytosolic X-prolyl aminopeptidase: a double Mn(II)-dependent dimeric enzyme with a novel three-domain subunit. (PubMed id 18515364)1, 2, 9 Li X.... Rao Z. (J. Biol. Chem. 2008)
    5. Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2. (PubMed id 20460270)1, 4 Garcia-BarcelA^ M.M....Tam P.K. (Hum. Mol. Genet. 2010)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. 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)
    10. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)

    (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)
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    Entrez Gene: 7511 HGNC: 12822 AceView: XPNPEP1 Ensembl:ENSG00000108039 euGenes: HUgn7511
    ECgene: XPNPEP1 H-InvDB: XPNPEP1

    (According to HUGE)
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      --

    (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 XPNPEP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for XPNPEP1 gene:
    Search GeneIP for patents involving XPNPEP1

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
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