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NPLOC4 Gene

protein-coding   GIFtS: 57
GCID: GC17M079523

Nuclear Protein Localization 4 Homolog (S. Cerevisiae)

  See related diseases
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
Nuclear Protein Localization 4 Homolog (S. Cerevisiae)1 2
NPL42 3 5
KIAA14993 5
Nuclear Protein Localization Protein 4 Homolog2
Protein NPL43

External Ids:    HGNC: 182611   Entrez Gene: 556662   Ensembl: ENSG000001824467   OMIM: 6065905   UniProtKB: Q8TAT63   

Export aliases for NPLOC4 gene to outside databases

Previous GC identifers: GC17M077135 GC17M074971


(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 NPLOC4 Gene:
NPLOC4 (nuclear protein localization 4 homolog (S. cerevisiae)) is a protein-coding gene. Diseases associated with NPLOC4 include nevoid basal cell carcinoma syndrome, and basal cell carcinoma.

UniProtKB/Swiss-Prot: NPL4_HUMAN, Q8TAT6
Function: The ternary complex containing UFD1L, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for
the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The
NPLOC4-UFD1L-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation
of a closed nuclear envelope (By similarity)

Gene Wiki entry for NPLOC4 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:
NC_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the NPLOC4 gene promoter:
         GCNF-1   GCNF   STAT5A   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNPLOC4 promoter sequence
   Search Chromatin IP Primers for NPLOC4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NPLOC4


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

Entrez Gene cytogenetic band: 17qter   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

NPLOC4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NPLOC4 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M079523:  view genomic region     (about GC identifiers)

Start:
79,523,913 bp from pter      End:
79,615,495 bp from pter
Size:
91,583 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NPL4_HUMAN, Q8TAT6 (See protein sequence)
Recommended Name: Nuclear protein localization protein 4 homolog  
Size: 608 amino acids; 68120 Da
Subunit: Heterodimer with UFD1L. The heterodimer binds ubiquitinated proteins. The heterodimer binds to VCP and
inhibits Golgi membrane fusion
Sequence caution: Sequence=BAA91314.1; Type=Erroneous initiation; Sequence=BAA96023.1; Type=Erroneous initiation;
Sequence=BAB14372.1; Type=Erroneous initiation; Sequence=BAB14499.1; Type=Erroneous initiation;
Secondary accessions: Q8N3J1 Q9H8V2 Q9H964 Q9NWR5 Q9P229
Alternative splicing: 2 isoforms:  Q8TAT6-1   Q8TAT6-2   (May be due to an intron retention. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NPLOC4: NX_Q8TAT6

Explore proteomics data for NPLOC4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys62, Lys68, Lys116, Lys189, Lys207, Lys243, Lys260, Lys302, Lys307, Lys404,
                                 Lys431, Lys544
  • Modification sites at PhosphoSitePlus

  • See NPLOC4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060391.2  
    ENSEMBL proteins: 
     ENSP00000331487   ENSP00000467400   ENSP00000459457   ENSP00000465247   ENSP00000460465  
     ENSP00000458384   ENSP00000459462   ENSP00000363879   ENSP00000461543   ENSP00000461478  
     ENSP00000446199  

    NPLOC4 Human Recombinant Protein Products:

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    Novus Biologicals NPLOC4 Proteins
    Novus Biologicals NPLOC4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NPLOC4

    NPLOC4 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
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    Search for Antibodies for NPLOC4 at Abcam
    Cloud-Clone Corp. Antibodies for NPLOC4
    Search ThermoFisher Antibodies for NPLOC4
    LSBio Antibodies in human, mouse, rat for NPLOC4

    NPLOC4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for NPLOC4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NPLOC4
    Cloud-Clone Corp. CLIAs for NPLOC4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR024682 Npl4_Ub-like_dom
     IPR007717 NPL4
     IPR001876 Znf_RanBP2
     IPR016563 PolyUb_recognition_cplx_Npl4
     IPR007716 NPL4_Zn-bd_put

    Graphical View of Domain Structure for InterPro Entry Q8TAT6

    ProtoNet protein and cluster: Q8TAT6

    1 Blocks protein domain: IPB001876 Zn-finger

    UniProtKB/Swiss-Prot: NPL4_HUMAN, Q8TAT6
    Domain: Binds ubiquitinated proteins via its RanBP2-type zinc finger
    Similarity: Belongs to the NPL4 family
    Similarity: Contains 1 RanBP2-type zinc finger


    NPLOC4 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NPL4_HUMAN, Q8TAT6
    Function: The ternary complex containing UFD1L, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for
    the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The
    NPLOC4-UFD1L-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation
    of a closed nuclear envelope (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11574150
    GO:0008270zinc ion binding IEA--
         
    NPLOC4 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Nploc4):
     mortality/aging 

    NPLOC4 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NPLOC4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NPLOC4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NPLOC4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NPLOC4

    miRNA
    Products:
        
    miRTarBase miRNAs that target NPLOC4:
    hsa-mir-423-5p (MIRT038064), hsa-mir-124-3p (MIRT023001), hsa-mir-92a-3p (MIRT049037), hsa-mir-320a (MIRT044586), hsa-mir-106b-5p (MIRT044371)

    Block miRNA regulation of human, mouse, rat NPLOC4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NPLOC4 (see all 32):
    hsa-miR-4328 hsa-miR-106a hsa-miR-519a hsa-miR-9 hsa-miR-124 hsa-miR-93 hsa-miR-506 hsa-miR-526b*
    SwitchGear 3'UTR luciferase reporter plasmidNPLOC4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NPLOC4
    Predesigned siRNA for gene silencing in human, mouse, rat NPLOC4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NPLOC4

    Clone
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    OriGene clones in human, mouse for NPLOC4 (see all 6)
    OriGene ORF clones in mouse, rat for NPLOC4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NPLOC4 (NM_017921)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPLOC4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPLOC4

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for NPLOC4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPLOC4


    (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
    NPL4_HUMAN, Q8TAT6: Cytoplasm, cytosol (By similarity). Endoplasmic reticulum (By similarity). Nucleus (By
    similarity). Note=Associated with the endoplasmic reticulum and nuclear (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    endoplasmic reticulum3
    nucleus2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005783endoplasmic reticulum ISS11574150
    GO:0005829cytosol IEA--
    GO:0042175nuclear outer membrane-endoplasmic reticulum membrane network ISS11574150

    NPLOC4 for ontologies           About GeneDecksing


    (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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    SuperPaths for NPLOC4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Regulation of degradation of deltaF508 CFTR in CF
    Regulation of degradation of wt CFTR0.59
    Regulation of degradation of deltaF508 CFTR in CF0.59
    2Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for NPLOC4
        Regulation of degradation of deltaF508 CFTR in CF
    Regulation of degradation of wt-CFTR


    1 Kegg Pathway  (Kegg details for NPLOC4):
        Protein processing in endoplasmic reticulum

    UniProtKB/Swiss-Prot: NPL4_HUMAN, Q8TAT6
    Pathway: Protein degradation; proteasomal ubiquitin-dependent pathway


    NPLOC4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NPLOC4: 

              Unfolded Protein Response in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NPLOC4

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

    Selected Interacting proteins for NPLOC4 (Q8TAT62, 3 ENSP000003314874) via UniProtKB, MINT, STRING, and/or I2D (see all 120)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VCPP550722, 3, ENSP000003517774MINT-7903922 MINT-7903948 MINT-7903973 I2D: score=9 STRING: ENSP00000351777
    NSFL1CQ9UNZ22, 3, ENSP000002168794MINT-7903948 MINT-7903973 I2D: score=2 STRING: ENSP00000216879
    UFD1LQ928902, 3, ENSP000002632024MINT-7903922 MINT-7903948 I2D: score=19 STRING: ENSP00000263202
    UBCP0CG482, 3, ENSP000003448184MINT-3973725 I2D: score=4 STRING: ENSP00000344818
    UBE4BO951553, ENSP000003430014I2D: score=4 STRING: ENSP00000343001
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007030Golgi organization ISS11574150
    GO:0030433ER-associated ubiquitin-dependent protein catabolic process ISS11574150
    GO:0061025membrane fusion ISS11574150

    NPLOC4 for ontologies           About GeneDecksing



    (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 NPLOC4 (NPL4)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NPLOC4 gene: 
    NM_017921.2  

    Unigene Cluster for NPLOC4:

    Nuclear protein localization 4 homolog (S. cerevisiae)
    Hs.464333  [show with all ESTs]
    Unigene Representative Sequence: AK024398
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000331134(uc002kar.3 uc010dic.3 uc002kas.3 uc002kat.4)
    ENST00000572760 ENST00000574964 ENST00000572346 ENST00000573519 ENST00000573876
    ENST00000571714 ENST00000572824 ENST00000573212 ENST00000576713 ENST00000374747(uc002kau.3 uc010wur.1)
    ENST00000576940 ENST00000574897 ENST00000572351 ENST00000570324 ENST00000573328
    ENST00000574344 ENST00000570300
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NPLOC4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NPLOC4 (see all 32):
    hsa-miR-4328 hsa-miR-106a hsa-miR-519a hsa-miR-9 hsa-miR-124 hsa-miR-93 hsa-miR-506 hsa-miR-526b*
    SwitchGear 3'UTR luciferase reporter plasmidNPLOC4 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for NPLOC4
    Predesigned siRNA for gene silencing in human, mouse, rat NPLOC4
    Clone
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    OriGene clones in human, mouse for NPLOC4 (see all 6)
    OriGene ORF clones in mouse, rat for NPLOC4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NPLOC4 (NM_017921)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPLOC4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPLOC4
    Primer
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    OriGene qPCR primer pairs and template standards for NPLOC4
    OriGene qSTAR qPCR primer pairs in human, mouse for NPLOC4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NPLOC4
      QuantiTect SYBR Green Assays in human, mouse, rat NPLOC4
      QuantiFast Probe-based Assays in human, mouse, rat NPLOC4

    Additional mRNA sequence: 

    AB040932.1 AF086475.1 AK000664.1 AK023046.1 AK023272.1 AK024398.1 AK074322.1 AK294473.1 
    AK311741.1 AL133629.1 AL834300.1 BC013406.2 BC025930.1 

    19 DOTS entries:

    DT.455631  DT.100655372  DT.100655369  DT.92450457  DT.92450459  DT.100044800  DT.120958182  DT.95265878 
    DT.40122399  DT.120958195  DT.40189079  DT.120958162  DT.75116078  DT.120958196  DT.120958206  DT.75151602 
    DT.40260067  DT.97774580  DT.99962343 

    Selected AceView cDNA sequences (see all 448):

    CF995754 BM700272 BU542911 AI754896 AI160325 BU158861 BM670649 CK903591 
    AI338720 AI095487 AW007107 BQ226757 BE646377 BI046674 AU124401 BE328173 
    BQ013702 AA614854 AF086475 CB108230 BQ671479 W84895 AI889446 BU186952 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NPLOC4 (see all 10)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b ^ 21 ^
    SP1:                                                                    -     -                                   -     -     -                 -     -     -   
    SP2:                                                                                                              -     -     -                 -     -     -   
    SP3:                                                                                                              -     -     -                 -     -     -   
    SP4:                                                                          -                                   -     -     -                                 
    SP5:                                                                                                              -     -     -                 -           -   

    ExUns: 22 ^ 23a · 23b · 23c · 23d · 23e · 23f · 23g · 23h · 23i
    SP1:  -                                                         
    SP2:  -                                                         
    SP3:                                                            
    SP4:                                                            
    SP5:  -                                                         


    ECgene alternative splicing isoforms for NPLOC4

    (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)
    About This Section

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    NPLOC4 expression in normal human tissues (normalized intensities)      NPLOC4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTACCAGCAC
    NPLOC4 Expression
    About this image


    NPLOC4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    NPLOC4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NPLOC4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.464333

    UniProtKB/Swiss-Prot: NPL4_HUMAN, Q8TAT6
    Tissue specificity: Expressed at highest levels in brain, heart, skeletal muscle, kidney and fetal liver

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NPLOC4: 
              Unfolded Protein Response in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for NPLOC4
    OriGene qSTAR qPCR primer pairs in human, mouse for NPLOC4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NPLOC4
    QuantiTect SYBR Green Assays in human, mouse, rat NPLOC4
    QuantiFast Probe-based Assays in human, mouse, rat NPLOC4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPLOC4

    (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 NPLOC4 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nploc41 , 5 nuclear protein localization 4 homolog (S. cerevisiae)1, 5 89.04(n)1
    97.37(a)1
      11 (84.09 cM)5
    2173651  NM_001195023.11  NP_001181952.11 
     1203803705 
    chicken
    (Gallus gallus)
    Aves NPLOC41 nuclear protein localization 4 homolog (S. cerevisiae) 82.13(n)
    92.43(a)
      417456  XM_415704.4  XP_415704.3 
    lizard
    (Anolis carolinensis)
    Reptilia NPLOC46
    nuclear protein localization 4 homolog (S. cerevis...
    91(a)
    1 ↔ 1
    2(98520722-98581837)
    African clawed frog
    (Xenopus laevis)
    Amphibia npl4-prov2 homolog of yeast nuclear protein localization 4 76.76(n)    BC056013.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi11f092 wufi11f09 78.56(n)   327447  BC045845.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Npl41 Npl4 ortholog 55.41(n)
    50.67(a)
      43091  NM_001170260.2  NP_001163731.1 
    worm
    (Caenorhabditis elegans)
    Secernentea npl-4.21 npl-4.2 51.08(n)
    45.77(a)
      3565577  NM_062692.3  NP_495093.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NPL4(YBR170C)4
    NPL41
    Ubiquitin-binding protein involved in protein degradation; more4
    NPL41
    45.42(n)1
    36.61(a)1
      2(578086-576344)4
    8524681, 4  NP_009729.11, 4 


    ENSEMBL Gene Tree for NPLOC4 (if available)
    TreeFam Gene Tree for NPLOC4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NPLOC4 gene
    Selected SIMAP similar genes for NPLOC4 using alignment to 9 protein entries:     NPL4_HUMAN (see all proteins) (see all similar genes):
    ZNF546    NRAMP1    AEBP2    CTSS    FOPNL    FAM3A
    ZNF738    PLEKHH2    DCTN5    NEK4    TMEM14B    WARS
    ZNF74    ZNF611    APOPT1    HECW1    YTHDF3    QRICH2

    NPLOC4 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), 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 NPLOC4 (see all 1889)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1410560401,2
    C--74971025(+) GGCTC-/CTAT  
            
    CTGAG
    1 -- int10--------
    rs1394024921,2
    --74971105(+) AGGCAA/GTGTGT 1 -- int10--------
    rs1142408001,2
    C,F--74971119(+) CCCCAG/AGCCTC 1 -- int11Minor allele frequency- A:0.01WA 118
    rs1178750901,2
    C,F--74971140(+) GCACCT/GGTGCA 1 -- int11Minor allele frequency- G:0.01NA 120
    rs1165673571,2
    C,F--74971197(+) GTACCT/CGTCCA 1 -- int11Minor allele frequency- C:0.03WA 118
    rs1144276271,2
    C,F--74971198(+) TACCTG/ATCCAC 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1441745091,2
    --74971337(+) ACTTAA/TCGAGG 1 -- int10--------
    rs124538871,2
    C,F,H--74971342(+) TCGAGG/AAGCCA 1 -- int122Minor allele frequency- A:0.22NS EA NA WA 2706
    rs1862244461,2
    --74971362(+) GGGATC/TGGCTG 1 -- int10--------
    rs759837061,2
    C,F--74971422(+) CAGTGA/TTATCT 1 -- int11Minor allele frequency- T:0.04WA 118

    HapMap Linkage Disequilibrium report for NPLOC4 (79523913 - 79615495 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NPLOC4 (see all 24):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2666942CNV Deletion23128226
    esv1319911CNV Deletion17803354
    esv2716454CNV Deletion23290073
    esv2667665CNV Deletion23128226
    nsv2164CNV Insertion18451855
    esv1009816CNV Insertion20482838
    nsv833568CNV Loss17160897
    nsv909110CNV Loss21882294
    dgv3333n71CNV Loss21882294
    dgv3332n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NPLOC4
    DNA2.0 Custom Variant and Variant Library Synthesis for NPLOC4

    (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.)
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    OMIM gene information: 606590    OMIM disorders: --

    5 diseases for NPLOC4:    About MalaCards
    nevoid basal cell carcinoma syndrome    basal cell carcinoma    cholera    hiv-1
    malaria


    NPLOC4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NPLOC4

    Export disorders for NPLOC4 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 NPLOC4 gene, integrated from 10 sources (see all 57):
    (articles sorted by number of sources associating them with NPLOC4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L). (PubMed id 11574150)1, 2, 3, 9 Botta A....Novelli G. (Gene 2001)
    2. Digital quantification of human eye color highlights genetic association of three new loci. (PubMed id 20463881)1, 4 Liu F....Kayser M. (PLoS Genet. 2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    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. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    6. A complex of mammalian ufd1 and npl4 links the AAA-ATPase, p97, to ubiquitin and nuclear transport pathways. (PubMed id 10811609)1, 3 Meyer H.H....Warren G. (EMBO J. 2000)
    7. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    8. The p97-UFD1L-NPL4 protein complex mediates cytokine-induced II_BI+ proteolysis. (PubMed id 24248593)1 Li J.M....Jin J. (Mol. Cell. Biol. 2014)
    9. Complex of Fas-associated factor 1 (FAF1) with valosin-containing protein (VCP)-Npl4-Ufd1 and polyubiquitinated proteins promotes endoplasmic reticulum-associated degradation (ERAD). (PubMed id 23293021)1 Lee J.J....Lee K.J. (J. Biol. Chem. 2013)
    10. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)

    (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: 55666 HGNC: 18261 AceView: NPL4 Ensembl:ENSG00000182446 euGenes: HUgn55666
    ECgene: NPLOC4 Kegg: 55666 H-InvDB: NPLOC4

    (According to HUGE)
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    HUGE: KIAA1499

    (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 NPLOC4 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 NPLOC4 gene:
    Search GeneIP for patents involving NPLOC4

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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