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NXPE1 Gene

protein-coding   GIFtS: 33
GCID: GC11M114393

Neurexophilin And PC-Esterase Domain Family, Member 1

(Previous names: family with sequence similarity 55, member A)
(Previous symbol: FAM55A)
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(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
Neurexophilin And PC-Esterase Domain Family, Member 11 2
FAM55A1 2 3
Family With Sequence Similarity 55, Member A1 2
Protein FAM55A2 3
NXPE Family Member 12

External Ids:    HGNC: 285271   Entrez Gene: 1204002   Ensembl: ENSG000000951107   UniProtKB: Q8N3233   

Export aliases for NXPE1 gene to outside databases


(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 NXPE1 Gene:
NXPE1 (neurexophilin and PC-esterase domain family, member 1) is a protein-coding gene. An important paralog of this gene is NXPE2.


(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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Regulatory elements:
   Search for regulatory transcription factor binding sites for NXPE1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NXPE1 promoter sequence
   Search Chromatin IP Primers for NXPE1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NXPE1


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

Entrez Gene cytogenetic band: 11q23.2   Ensembl cytogenetic band:  11q23.2   HGNC cytogenetic band: 11q23.2

NXPE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NXPE1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M114393:  view genomic region     (about GC identifiers)

Start:
114,392,437 bp from pter      End:
114,430,617 bp from pter
Size:
38,181 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., 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: NXPE1_HUMAN, Q8N323 (See protein sequence)
Recommended Name: NXPE family member 1 precursor  
Size: 547 amino acids; 63178 Da
Secondary accessions: B0YJ13
Alternative splicing: 2 isoforms:  Q8N323-1   Q8N323-2   

Explore the universe of human proteins at neXtProt for NXPE1: NX_Q8N323

Explore proteomics data for NXPE1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn39, Asn211

  • See NXPE1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689528.2  
    ENSEMBL proteins: 
     ENSP00000445200   ENSP00000251921   ENSP00000442984   ENSP00000439779   ENSP00000439503  
     ENSP00000411690  

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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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    3 InterPro protein domains:
     IPR014756 Ig_E-set
     IPR026845 NXPH/NXPE
     IPR026057 PC-Esterase

    Graphical View of Domain Structure for InterPro Entry Q8N323

    ProtoNet protein and cluster: Q8N323

    UniProtKB/Swiss-Prot: NXPE1_HUMAN, Q8N323
    Similarity: Belongs to the NXPE family


    Find genes that share domains with NXPE1           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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NXPE1
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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
    NXPE1_HUMAN, Q8N323: Secreted

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    Find genes that share ontologies with NXPE1           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 NXPE1
    Interactions:

        Search GeneGlobe Interaction Network for NXPE1

    (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 NXPE1



    (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 NXPE1 gene: 
    NM_152315.3  

    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000536271 ENST00000251921(uc010rxd.2 uc001ppa.3) ENST00000536312(uc001ppb.1)
    ENST00000539878 ENST00000534921 ENST00000424269
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    10 AceView cDNA sequences:

    NM_152315 BX648601 BC029049 AI347274 BC037844 BG700724 BG219694 BI764226 
    AW844024 BF348829 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NXPE1    About this scheme

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


    ECgene alternative splicing isoforms for NXPE1

    (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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    NXPE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NXPE1 Expression
    About this image

    NXPE1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NXPE1 Protein Expression
        Custom PCR Arrays for NXPE1
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    In Situ
    Assay Products:
     

     
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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 chordates.

    Orthologs for NXPE1 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    49(a)
    45(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    GL343722.1(235152-242324)
    GL343722.1(253920-261876)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-162k9.56
    si:ch211-162k9.5
    22(a)
    many ↔ many
    15(31633432-31640041) ENSDARG00000079290
            Species with no ortholog for NXPE1

    ENSEMBL Gene Tree for NXPE1 (if available)
    TreeFam Gene Tree for NXPE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NXPE1 gene
    NXPE22  NXPE42  NXPE32  
    3 SIMAP similar genes for NXPE1 using alignment to 5 protein entries:     NXPE1_HUMAN (see all proteins):
    NXPE4    NXPE2    NXPE3

    Find genes that share paralogs with NXPE1           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 NXPE1 (see all 1242)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1129173911,2
    C--114391938(+) ATTTTC/AAAAAT 1 -- int11Minor allele frequency- A:0.50WA 2
    rs71038041,2
    H--114391967(+) acttaC/Tgacac 1 -- int14Minor allele frequency- T:0.00NS EA 418
    rs1860849481,2
    --114392003(+) CATGTA/CTCTTT 1 -- int10--------
    rs1906195611,2
    --114392005(+) TGTCTA/CTTTTT 1 -- int10--------
    rs71038271,2
    C,F,A,H--114392017(+) tattgC/Ttatga 1 -- int123Minor allele frequency- T:0.25NS EA NA WA CSA 2496
    rs1821731271,2
    --114392095(+) AATCTA/TTCTAT 1 -- int10--------
    rs13785431,2
    C,F,A,H--114392298(-) accctA/Gactgt 1 -- int123Minor allele frequency- G:0.24NS EA NA WA CSA 2518
    rs1450125901,2
    --114392308(+) TGCTCA/GGAGTG 1 -- int10--------
    rs1879352921,2
    --114392311(+) TCGGAA/GTGATT 1 -- int10--------
    rs609070301,2
    C,F--114392357(+) CAATAG/AACAGA 1 -- int13Minor allele frequency- A:0.03WA 122

    HapMap Linkage Disequilibrium report for NXPE1 (114392437 - 114430617 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NXPE1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NXPE1
    DNA2.0 Custom Variant and Variant Library Synthesis for NXPE1

    (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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      --

    (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 NXPE1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with NXPE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    2. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (Nature 2012)
    3. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. (PubMed id 21297633)1 Anderson C.A....Rioux J.D. (Nat. Genet. 2011)
    4. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 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: 120400 HGNC: 28527 AceView: MGC34290 Ensembl:ENSG00000095110 euGenes: HUgn120400
    ECgene: NXPE1 H-InvDB: NXPE1

    (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)
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    NameDescription
    PharmGKB entry for NXPE1 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 NXPE1 gene:
    Search GeneIP for patents involving NXPE1

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
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     Browse ESI BIO Cell Lines and PureStem Progenitors for NXPE1
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     SwitchGear 3'UTR luciferase reporter plasmids for NXPE1
     SwitchGear Promoter luciferase reporter plasmids for NXPE1
     ThermoFisher Antibodies for NXPE1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NXPE1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NXPE1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NXPE1
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     Search Addgene for plasmids for NXPE1
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      eBioscience FlowRNA Probe Sets
           
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