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AQPEP Gene

protein-coding   GIFtS: 45
GCID: GC05P115298

Laeverin


  See AQPEP-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
LVRN2 3 5     EC 3.4.11.-3
AP-Q2 3     Laeverin3
CHL2 Antigen2 3     EC 3.4.118
APQ2     EC 3.4.11.28
Aminopeptidase Q2     EC 3.4.24.578
laeverin2     

External Ids:    Entrez Gene: 2063382   Ensembl: ENSG000001729017   OMIM: 6100465   UniProtKB: Q6Q4G33   

Export aliases for AQPEP gene to outside databases

Previous GC identifer: GC05P110478


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for AQPEP Gene:
AQPEP is a protein-coding gene. Diseases associated with AQPEP include laryngitis. GO annotations related to this gene include metallopeptidase activity. An important paralog of this gene is LNPEP.

UniProtKB/Swiss-Prot: AMPQ_HUMAN, Q6Q4G3
Function: Metalloprotease which may be important for placentation by regulating biological activity of key
peptides at the embryo-maternal interface. On synthetic substrates it shows a marked preference for
Leu-4-methylcoumaryl-7-amide (Leu-MCA) over Met-MCA, Arg-LCA and Lys-LCA. Cleaves the N-terminal amino acid of
several peptides such as angiotensin-3, kisspeptin-10 and endokinin C




(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_000005.9  NT_034772.7  NC_018916.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for AQPEP
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAQPEP promoter sequence
   Search Chromatin IP Primers for AQPEP

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


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

Entrez Gene cytogenetic band: 5q23.1   Ensembl cytogenetic band:  5q23.1   

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P115298:  view genomic region     (about GC identifiers)

Start:
115,298,151 bp from pter      End:
115,363,316 bp from pter
Size:
65,166 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AMPQ_HUMAN, Q6Q4G3 (See protein sequence)
Recommended Name: Aminopeptidase Q  
Size: 990 amino acids; 113283 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Homodimer
Sequence caution: Sequence=BAC11422.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A8K6J0 C9JGD2 Q32MR1 Q4G0I9 Q4G0V2 Q86XA3 Q8NBZ2
Alternative splicing: 4 isoforms:  Q6Q4G3-1   Q6Q4G3-2   Q6Q4G3-3   Q6Q4G3-4   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for AQPEP: NX_Q6Q4G3

Explore proteomics data for AQPEP at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Glycosylation2 at Asn132, Asn168, Asn261, Asn288, Asn319, Asn346, Asn607, Asn653
  • 4 DME Specific Peptides for AQPEP (Q6Q4G3)
     WLNEGFA  WFGNLVT  KATFNIT  LAVTTTP 


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

    REFSEQ proteins: NP_776161.3  
    ENSEMBL proteins: 
     ENSP00000423604   ENSP00000350541   ENSP00000427574   ENSP00000427418   ENSP00000427500  
     ENSP00000378899  

    AQPEP Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for AQPEP
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    Novus Biologicals AQPEP Protein
    Novus Biologicals AQPEP Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for AQPEP 

    AQPEP Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Search for Antibodies for AQPEP at Abcam
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    AQPEP Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for AQPEP 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001930 Peptidase_M1
     IPR014782 Peptidase_M1_N
     IPR024571 ERAP1-like_C_dom

    Graphical View of Domain Structure for InterPro Entry Q6Q4G3

    ProtoNet protein and cluster: Q6Q4G3

    1 Blocks protein domain: IPB001930 Membrane alanyl dipeptidase (M1) family signature

    UniProtKB/Swiss-Prot: AMPQ_HUMAN, Q6Q4G3
    Similarity: Belongs to the peptidase M1 family


    Find genes that share domains with AQPEP           About GenesLikeMe


    (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, 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: AMPQ_HUMAN, Q6Q4G3
    Function: Metalloprotease which may be important for placentation by regulating biological activity of key
    peptides at the embryo-maternal interface. On synthetic substrates it shows a marked preference for
    Leu-4-methylcoumaryl-7-amide (Leu-MCA) over Met-MCA, Arg-LCA and Lys-LCA. Cleaves the N-terminal amino acid of
    several peptides such as angiotensin-3, kisspeptin-10 and endokinin C
    Enzyme regulation: Inhibited by bestatin
    Biophysicochemical properties: Kinetic parameters: KM=78.2 uM for Leu-4-methylcoumaryl-7-amide; pH dependence:
    Optimum pH is 7.0;

         Enzyme Numbers (IUBMB): EC 3.4.11.-1 EC 3.4.24.572 EC 3.4.11.22 EC 3.4.112

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008237metallopeptidase activity IEA--
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with AQPEP           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for AQPEP:
     Decreased POU5F1-GFP protein e  Increased gamma-H2AX phosphory  Increased homologous recombina 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AQPEP
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AQPEP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AQPEP

    miRNA
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    Block miRNA regulation of human, mouse, rat AQPEP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AQPEP (see all 10):
    hsa-miR-642a hsa-miR-137 hsa-miR-374b hsa-miR-548s hsa-miR-374a hsa-miR-3922-3p hsa-miR-9 hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidAQPEP 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat AQPEP

    Gene Editing
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: AQPEP (NM_173800)
    Sino Biological Human cDNA Clone for AQPEP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AQPEP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AQPEP

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQPEP


    (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
    AMPQ_HUMAN, Q6Q4G3: Membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    endoplasmic reticulum2
    extracellular1
    lysosome1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with AQPEP           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 AQPEP
    Interactions:

        Search GeneGlobe Interaction Network for AQPEP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for AQPEP (ENSP000003505414) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ORC2ENSP000002342964STRING: ENSP00000234296
    OXLD1ENSP000003638734STRING: ENSP00000363873
    HUS1ENSP000002587744STRING: ENSP00000258774
    ORC1ENSP000003606214STRING: ENSP00000360621
    RAD1ENSP000003408794STRING: ENSP00000340879
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----

    Find genes that share ontologies with AQPEP           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AQPEP (AMPQ)



    (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 AQPEP gene: 
    NM_173800.4  

    Unigene Cluster for AQPEP:

    Laeverin
    Hs.98288  [show with all ESTs]
    Unigene Representative Sequence: NM_173800
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000504467 ENST00000357872(uc003kro.3 uc003krp.3) ENST00000514509
    ENST00000503329(uc003krq.3 uc003krr.3 uc003krs.3) ENST00000512314
    ENST00000503203 ENST00000515454 ENST00000512413 ENST00000506279 ENST00000395528

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat AQPEP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AQPEP (see all 10):
    hsa-miR-642a hsa-miR-137 hsa-miR-374b hsa-miR-548s hsa-miR-374a hsa-miR-3922-3p hsa-miR-9 hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidAQPEP 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for AQPEP
    Predesigned siRNA for gene silencing in human, mouse, rat AQPEP
    Clone
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    OriGene clones in human, mouse for AQPEP (see all 6)
    OriGene ORF clones in mouse, rat for AQPEP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: AQPEP (NM_173800)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AQPEP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AQPEP
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for AQPEP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AQPEP
      QuantiTect SYBR Green Assays in human, mouse, rat AQPEP
      QuantiFast Probe-based Assays in human, mouse, rat AQPEP

    Additional mRNA sequence: 

    AK027809.1 AK075131.1 AK092445.1 AK291655.1 AY560010.1 BC060869.1 BC068560.1 BC109022.1 
    BC109023.1 

    8 DOTS entries:

    DT.101956727  DT.99998366  DT.99930335  DT.106803  DT.100737642  DT.92017872  DT.75118046  DT.91995496 

    Selected AceView cDNA sequences (see all 54):

    AK027809 AA418273 AA453771 N58022 BC070028 CR608077 AI222989 AI333894 
    BX096521 NM_173800 AA043040 BQ717669 AY560010 BF438793 AA883856 BI829157 
    BC045809 BC060869 AL543134 AA203555 AA044442 BG719375 AI246369 BC036440 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AQPEP (see all 6)    About this scheme

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



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

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

    AQPEP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.98288

    UniProtKB/Swiss-Prot: AMPQ_HUMAN, Q6Q4G3
    Tissue specificity: Specifically expressed in placenta and not in other tissues. Mainly found at the cell surface
    region of the extravillous trophoblasts. Detected on extravillous trophoblasts in the outer layer of the chorion
    laeve in the fetal membrane Not detected on either fetal amnionic epithelial cells or maternal decidual cells.
    Also detected in the migrating extravillous trophoblasts in the maternal decidual tissues (at protein level)

        Custom PCR Arrays for AQPEP
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQPEP

    (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 animals and fungi.

    Orthologs for AQPEP gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 4833403I15Rik1 , 5 RIKEN cDNA 4833403I15 gene1, 5 76.47(n)1
    67.65(a)1
      18 (24.84 cM)5
    745741  NM_029008.11  NP_083284.11 
     468500395 
    chicken
    (Gallus gallus)
    Aves LOC4316491 aminopeptidase Q-like 63.65(n)
    53.73(a)
      431649  XM_429201.4  XP_429201.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    44(a)
    1 ↔ 1
    GL343193.1(8444200-8487754)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004960941 aminopeptidase Q-like 57.72(n)
    47.61(a)
      100496094  XM_002931735.2  XP_002931781.2 
    zebrafish
    (Danio rerio)
    Actinopterygii anpepa6
    alanyl (membrane) aminopeptidase a
    31(a)
    many ↔ many
    18(20858239-20878374) ENSDARG00000041083
    fruit fly
    (Drosophila melanogaster)
    Insecta SP10296
    CG145166
    (see all 16)
    --
    29(a)
    29(a)
    (see all 16)
    many ↔ many
    many ↔ many
    (see all 16)
    3R(25070680-25076167)
    3R(24964388-24971515)
    worm
    (Caenorhabditis elegans)
    Secernentea R03G8.66
    Protein R03G8.6 (R03G8.6) mRNA, complete cds
    27(a)
    many ↔ many
    X(13094558-13100445) WBGene00011000
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AAP16
    APE26
    Arginine/alanine aminopeptidase, overproduction st...
    Aminopeptidase yscII; may have a role in obtaining...
    27(a)
    25(a)
    many ↔ many
    many ↔ many
    VIII(198740-201310) YHR047C
    XI(154991-158232) YKL157W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AQPEP gene
    LNPEP2  ENPEP2  TRHDE2  ANPEP2  LOC1010602122  ERAP12  NPEPPS2  ERAP22  
    8 SIMAP similar genes for AQPEP using alignment to 1 protein entry:     AMPQ_HUMAN:
    FLJ90650    CD13    TRHDE    ANPEP    ERAP1    NPEPPSL1
    ENPEP    LNPEP

    Find genes that share paralogs with AQPEP           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)
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    Selected SNPs for AQPEP (see all 1976)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2003163161,2
    --115296201(+) ATCAG-/AAATAT 1 -- us2k10--------
    rs1870718111,2
    --115296328(+) AAATGC/TTAGTG 1 -- us2k10--------
    rs773099031,2
    --115296336(+) GTGTCC/TATATA 1 -- us2k10--------
    rs1498071131,2
    --115296442(+) TCCTTC/TGAAAT 1 -- us2k10--------
    rs1456966241,2
    --115296443(+) CCTTCA/GAAATC 1 -- us2k10--------
    rs1928517701,2
    --115296467(+) CCCACA/GGGTTG 1 -- us2k10--------
    rs77041281,2
    C,F,H--115296567(+) AGCTCA/CAATTC 1 -- us2k111Minor allele frequency- C:0.04NS EA NA CSA WA 1290
    rs1851731271,2
    --115296583(+) GCACAA/GCTTGT 1 -- us2k10--------
    rs1399172931,2
    --115296590(+) TTGTGC/GTAGGT 1 -- us2k10--------
    rs1456492641,2
    --115296597(+) AGGTAC/TATGGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for AQPEP (115298151 - 115363316 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for AQPEP:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2730630CNV Deletion23290073
    esv34146CNV Loss18971310
    nsv882738CNV Loss21882294
    nsv882735CNV Gain21882294
    dgv6297n71CNV Gain21882294
    nsv515611CNV Gain+Loss19592680
    esv7796OTHER Inversion19470904

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610046    OMIM disorders: --

    1 disease for AQPEP:    
    About MalaCards
    laryngitis

    2 diseases from the University of Copenhagen DISEASES database for AQPEP:
    Chronic fatigue syndrome     Laryngitis

    Find genes that share disorders with AQPEP           About GenesLikeMe

    Genetic Association Database (GAD): AQPEP
    Human Genome Epidemiology (HuGE) Navigator: AQPEP (0 documents)

    Export disorders for AQPEP 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 AQPEP gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with AQPEP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human extravillous trophoblasts express laeverin, a novel protein that belongs to membrane-bound gluzincin metallopeptidases. (PubMed id 14706636)1, 2, 9 Fujiwara H.... Fujii S. (Biochem. Biophys. Res. Commun. 2004)
    2. The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations. (PubMed id 19578876)1, 4 Johnson M.P....Moses E.K. (Hum. Genet. 2009)
    3. Laeverin/aminopeptidase Q, a novel bestatin-sensitive leucine aminopeptidase belonging to the M1 family of aminopeptidases. (PubMed id 17525158)1, 2 Maruyama M....Tsujimoto M. (J. Biol. Chem. 2007)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Histidine 379 of human laeverin/aminopeptidase Q, a nonconserved residue within the exopeptidase motif, defines its distinctive enzymatic properties. (PubMed id 19819873)1, 9 Maruyama M....Tsujimoto M. (J. Biol. Chem. 2009)
    7. Identification of genes modulated in rheumatoid arthritis using complementary DNA microarray analysis of lymphoblastoid B cell lines from disease-discordant monozygotic twins. (PubMed id 16804865)1, 9 Haas C.S....Holoshitz J. (Arthritis Rheum. 2006)
    8. Regulation of human extravillous trophoblast function by membrane-bound peptidases. (PubMed id 15897020)1, 9 Fujiwara H....Maeda M. (Biochim. Biophys. Acta 2005)
    9. Laeverin/aminopeptidase Q induces trophoblast invasion during human early placentation. (PubMed id 22402206)1 Horie A....Hattori A. (Hum. Reprod. 2012)
    10. Involvement of glutamine-238 in the substrate specificity of human laeverin/aminopeptidase Q. (PubMed id 21212512)1 Goto Y....Tsujimoto M. (amp 2011)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 206338 AceView: FLJ90650 Ensembl:ENSG00000172901 euGenes: HUgn206338

    (According to HUGE)
    About This Section

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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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      --

    (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 AQPEP gene:
    Search GeneIP for patents involving AQPEP

    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, eBioscience, 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
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