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

NXPE4 Gene

protein-coding   GIFtS: 37
GCID: GC11M114442

Neurexophilin And PC-Esterase Domain Family, Member 4

(Previous names: chromosome 11 open reading frame 33, family with sequence...)
(Previous symbols: C11orf33, FAM55D)
  See 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)
About This Section

Aliases
Neurexophilin And PC-Esterase Domain Family, Member 41 2     Protein FAM55D2 3
C11orf331 2 3     Chromosome 11 Open Reading Frame 331
FAM55D1 2 3     NXPE Family Member 42
Family With Sequence Similarity 55, Member D1 2     

External Ids:    HGNC: 231171   Entrez Gene: 548272   Ensembl: ENSG000001376347   UniProtKB: Q6UWF73   

Export aliases for NXPE4 gene to outside databases


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

GeneCards Summary for NXPE4 Gene: 
NXPE4 (neurexophilin and PC-esterase domain family, member 4) is a protein-coding gene. Diseases associated with NXPE4 include colon cancer. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_033899.8  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for NXPE4
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNXPE4 promoter sequence
   Search SABiosciences Chromatin IP Primers for NXPE4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NXPE4


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: 11q23.3

NXPE4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NXPE4 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M114442:  view genomic region     (about GC identifiers)

Start:
114,441,313 bp from pter      End:
114,466,484 bp from pter
Size:
25,172 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NXPE4_HUMAN, Q6UWF7 (See protein sequence)
Recommended Name: NXPE family member 4 precursor  
Size: 544 amino acids; 62263 Da
Subcellular location: Secreted (Potential)
Sequence caution: Sequence=BAA90965.1; Type=Frameshift; Positions=427;
Secondary accessions: Q6QDB4 Q9NXP5
Alternative splicing: 2 isoforms:  Q6UWF7-1   Q6UWF7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NXPE4: NX_Q6UWF7

Explore proteomics data for NXPE4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6UWF7

  • NXPE4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NXPE4 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001071107.1  NP_060148.2  

    ENSEMBL proteins: 
     ENSP00000401503   ENSP00000364627  

    Human Recombinant Protein Products for NXPE4: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    NXPE4 for ontologies           About GeneDecksing



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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR014756 Ig_E-set
     IPR026845 NXPH/NXPE
     IPR026057 PC-Esterase

    Graphical View of Domain Structure for InterPro Entry Q6UWF7

    ProtoNet protein and cluster: Q6UWF7

    UniProtKB/Swiss-Prot: NXPE4_HUMAN, Q6UWF7
    Similarity: Belongs to the NXPE family


    NXPE4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         1 GenomeRNAi human phenotype for NXPE4:
     Increased circadian period len 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for NXPE4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NXPE4

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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NXPE4


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NXPE4

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NXPE4

    Search CenterWatch for drugs/clinical trials and news about NXPE4

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NXPE4 gene (2 alternative transcripts): 
    NM_001077639.1  NM_017678.2  

    Unigene Cluster for NXPE4:

    Neurexophilin and PC-esterase domain family, member 4
    Hs.179100  [show with all ESTs]
    Unigene Representative Sequence: NM_001077639
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000424261(uc001ppd.3) ENST00000375478(uc001ppc.3)
    miRNA
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NXPE4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NXPE4
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    GenScript Custom all cDNA clones Services for NXPE4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NXPE4
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat NXPE4
    Sirion Biotech Customized lentivirus for stable overexpression of NXPE4 
                         Customized lentivirus expression plasmids for stable overexpression of NXPE4 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NXPE4
    Search SABiosciences RT2 qPCR Primer Assays in human, mouse, rat NXPE4
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NXPE4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NXPE4

    Additional mRNA sequence: 

    AK000134.1 AK225236.1 AY358805.1 AY547307.1 

    2 DOTS entries:

    DT.40118157  DT.99953479 

    9 AceView cDNA sequences:

    AI581835 BX090642 NM_017678 AY547307 AY358805 AK000134 AI833131 BG201797 
    BG199761 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for NXPE4    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b
    SP1:                          -                           
    SP2:                                                      


    ECgene alternative splicing isoforms for NXPE4

    (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

    NXPE4 expression in normal human tissues (normalized intensities)      NXPE4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NXPE4 Expression
    About this image


    NXPE4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Blood (Cardiovascular System)
             Conventional Dendritic Cells II Spleen
     
     Spleen (Hematopoietic System)
             Conventional Dendritic Cells II Spleen

    See NXPE4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NXPE4

    SOURCE GeneReport for Unigene cluster: Hs.179100
        SABiosciences Custom PCR Arrays for NXPE4
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NXPE4
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NXPE4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NXPE4

    (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 chordates.

    Orthologs for NXPE4 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nxpe41 , 5 family with sequence similarity 55, member D5
    neurexophilin and PC-esterase domain family, member more1
    79.54(n)1
    72.83(a)1
      9 (26.39 cM)5
    2448531  NM_172921.31  NP_766509.21 
     483620415 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    --
    55(a)
    54(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    GL343722.1(253920-261876)
    GL343722.1(235152-242324)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ634574.12   -- 75.6(n)    BJ634574.1 


    ENSEMBL Gene Tree for NXPE4 (if available)
    TreeFam Gene Tree for NXPE4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NXPE4 gene
    NXPE22  NXPE12  NXPE32  
    3 SIMAP similar genes for NXPE4 using alignment to 1 protein entry:     NXPE4_HUMAN:
    NXPE1    NXPE2    NXPE3

    NXPE4 for paralogs           About GeneDecksing



    (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) 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

    10/578 SNPs in NXPE4 are shown (see all 578)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs569020261,2
    C--114311323(+) ATATA-/TATA  
            
    CATAT
    2 -- int11Minor allele frequency- TATA:0.00NA 2
    rs112150611,2
    C,F--114440857(+) aagccG/Ctttgt 2 -- int12Minor allele frequency- C:0.50WA CSA 4
    rs112150621,2
    C,F--114440877(+) agactA/Gtctgg 2 -- int14Minor allele frequency- G:0.26WA CSA NA 242
    rs1384855091,2
    --114440905(+) CCAGTC/GATCAC 2 -- int10--------
    rs1118044121,2
    C,F--114441011(+) ACCCAG/ACCCTC 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs5131521,2
    C,F,O,A,H--114441123(-) TCTATA/GGTATT 2 -- int127Minor allele frequency- G:0.45NS EA NA WA CSA 2490
    rs614289991,2
    C,F--114441233(+) GGGAGA/CATTGC 2 -- int13Minor allele frequency- C:0.13WA 122
    rs5115901,2
    C,F,A,H--114441248(-) GAGAAG/ATCTTG 2 -- int128Minor allele frequency- A:0.45NS EA NA WA CSA 2671
    rs788802741,2
    C,F--114441251(+) GACTTC/GTCTTC 2 -- int11Minor allele frequency- G:0.06WA 118
    rs15176841,2
    C,F,A,H--114441292(-) TTCTAT/CCACTA 2 -- int121Minor allele frequency- C:0.21NS EA NA WA CSA 2294

    HapMap Linkage Disequilibrium report for NXPE4 (114441313 - 114466484 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NXPE4: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NXPE4
    DNA2.0 Custom Variant and Variant Library Synthesis for NXPE4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for NXPE4:    About MalaCards
    colon cancer    


    NXPE4 for disorders           About GeneDecksing


    Export disorders for NXPE4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NXPE4 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with NXPE4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel eukaryotic enzymes modifying cell-surface biopo lymers. (PubMed id 20056006)1, 3 Anantharaman V. and Aravind L. (2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Search for epithelial-specific mRNAs in peripheral blood of patients with colon cancer by RT-PCR. (PubMed id 15375555)1, 2 Solmi R.... Strippoli P. (2004)
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    5. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    6. Host-microbe interactions have shaped the genetic arch itecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (2012)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    9. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 54827 HGNC: 23117 AceView: C11orf33 Ensembl:ENSG00000137634 euGenes: HUgn54827
    ECgene: NXPE4 H-InvDB: NXPE4

    (According to HUGE)
    About This Section
      --

    (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 NXPE4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NXPE4 gene:
    Search GeneIP for patents involving NXPE4

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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