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

NAV1 Gene

protein-coding   GIFtS: 52
GCID: GC01P201595

Neuron Navigator 1

  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)
About This Section

Aliases
Neuron Navigator 11 2     STEERIN12 3
POMFIL32 3 5     KIAA11513 5
Neuron Navigator-11 2     UNC53H12
Pore Membrane And/Or Filament Interacting Like Protein 31 2     KIAA12133
Pore Membrane And/Or Filament-Interacting-Like Protein 32 3     Steerin-13
Unc-53 Homolog 12 3     unc53H13

External Ids:    HGNC: 159891   Entrez Gene: 897962   Ensembl: ENSG000001343697   OMIM: 6116285   UniProtKB: Q8NEY13   

Export aliases for NAV1 gene to outside databases

Previous GC identifers: GC01P199392 GC01P197115 GC01P198083 GC01P198905 GC01P198349 GC01P199859 GC01P199884 GC01P172783


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

Entrez Gene summary for NAV1 Gene:
This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded
protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a
variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon
guidance. The exact function of this gene is not known, but it is thought to play a role in in neuronal
development and regeneration. Alternative splicing results in multiple transcript variants. (provided by RefSeq,
Nov 2009)

GeneCards Summary for NAV1 Gene: 
NAV1 (neuron navigator 1) is a protein-coding gene. Diseases associated with NAV1 include erythromelalgia, and brugada syndrome. GO annotations related to this gene include nucleoside-triphosphatase activity and nucleotide binding. An important paralog of this gene is NAV3.

UniProtKB/Swiss-Prot: NAV1_HUMAN, Q8NEY1
Function: May be involved in neuronal migration (By similarity)

Gene Wiki entry for NAV1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NAV1 gene promoter:
         Egr-3   GR   NF-1   Egr-1   GR-beta   AP-4   HNF-4alpha1   MZF-1   AREB6   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNAV1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NAV1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NAV1


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

Entrez Gene cytogenetic band: 1q32.3   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32.3

NAV1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NAV1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P201595:  view genomic region     (about GC identifiers)

Start:
201,592,411 bp from pter      End:
201,796,102 bp from pter
Size:
203,692 bases      Orientation:
plus 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: NAV1_HUMAN, Q8NEY1 (See protein sequence)
Recommended Name: Neuron navigator 1  
Size: 1877 amino acids; 202472 Da
Subunit: Interacts with tubulin (By similarity)
Subcellular location: Cytoplasm, cytoskeleton (By similarity). Note=Associates with a subset of microtubule plus
ends. Enriched in neuronal growth cones (By similarity)
Developmental stage: Expressed in fetal brain and heart
Sequence caution: Sequence=AAH07523.1; Type=Erroneous initiation; Sequence=BAB14136.1; Type=Erroneous initiation;
Sequence=BAB14142.1; Type=Erroneous initiation; Sequence=BAB14865.1; Type=Erroneous initiation;
Sequence=CAH71925.1; Type=Erroneous gene model prediction; Sequence=CAI17010.1; Type=Erroneous gene model
prediction;
Secondary accessions: A8MS88 Q5SVH1 Q5SVH2 Q5SVH3 Q5SVH7 Q5VUY9 Q8IVL2 Q96II1 Q9H7V9 Q9H9S9
Q9H9T5 Q9UGI1 Q9ULK7 Q9ULR9
Alternative splicing: 7 isoforms:  Q8NEY1-1   Q8NEY1-2   Q8NEY1-3   Q8NEY1-4   Q8NEY1-5   Q8NEY1-6   Q8NEY1-7   

Explore the universe of human proteins at neXtProt for NAV1: NX_Q8NEY1

Explore proteomics data for NAV1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NEY1

  • NAV1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NAV1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001161210.1  NP_065176.3  

    ENSEMBL proteins: 
     ENSP00000356271   ENSP00000356265   ENSP00000356264   ENSP00000405437   ENSP00000389123  
     ENSP00000426436   ENSP00000295624   ENSP00000356266   ENSP00000356269  

    Human Recombinant Protein Products for NAV1: 
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    OriGene Custom Protein Services for NAV1
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    Novus Biologicals NAV1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NAV1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005874microtubule IEA--
    GO:0015630microtubule cytoskeleton ----

    NAV1 for ontologies           About GeneDecksing



    NAV1 Antibody Products: 
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    Novus Biologicals NAV1 Antibodies
    Abcam antibodies for NAV1
    Cloud-Clone Corp. Antibodies for NAV1 
    Search ThermoFisher Antibodies for NAV1
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    Assay Products for NAV1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for NAV1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NAV1 
    Cloud-Clone Corp. CLIAs for NAV1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase

    Graphical View of Domain Structure for InterPro Entry Q8NEY1

    ProtoNet protein and cluster: Q8NEY1

    1 Blocks protein domain: IPB008162 Inorganic pyrophosphatase

    UniProtKB/Swiss-Prot: NAV1_HUMAN, Q8NEY1
    Similarity: Belongs to the Nav/unc-53 family


    NAV1 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NAV1_HUMAN, Q8NEY1
    Function: May be involved in neuronal migration (By similarity)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0017111nucleoside-triphosphatase activity IEA--
         
    NAV1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NAV1:
     Decreased viability with pacli 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for NAV1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NAV1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NAV1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NAV1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NAV1
    8/151 QIAGEN miScript miRNA Assays for microRNAs that regulate NAV1 (see all 151):
    hsa-miR-576-3p hsa-miR-631 hsa-miR-1914* hsa-miR-1260b hsa-miR-877* hsa-miR-409-5p hsa-miR-3622b-3p hsa-miR-298
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of NAV1

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for NAV1 (see all 9)
    OriGene ORF clones in mouse, rat for NAV1
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    GenScript Custom all cDNA clones Services for NAV1
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NAV1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NAV1

    Cell Line
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    Search LifeMap BioReagents cell lines for NAV1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NAV1


    (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 NAV1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for NAV1 (Q8NEY13 ENSP000002956244) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APCP250543, ENSP000002574304I2D: score=3 STRING: ENSP00000257430
    TBC1D4O603433, ENSP000003668634I2D: score=2 STRING: ENSP00000366863
    YWHAEP622583I2D: score=1 
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001578microtubule bundle formation IEA--
    GO:0001764neuron migration IEA--

    NAV1 for ontologies           About GeneDecksing



    (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 NAV1

    Search CenterWatch for drugs/clinical trials and news about NAV1

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 NAV1 gene (2 alternative transcripts): 
    NM_001167738.1  NM_020443.4  

    Unigene Cluster for NAV1:

    Neuron navigator 1
    Hs.585374  [show with all ESTs]
    Unigene Representative Sequence: NM_020443
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000491403 ENST00000367302 ENST00000367296(uc021phi.1) ENST00000490213(uc001gwv.1)
    ENST00000367295(uc001gww.2 uc001gwx.3) ENST00000430015 ENST00000469130(uc001gwy.1)
    ENST00000438083 ENST00000477118 ENST00000295624(uc001gwu.3) ENST00000367297
    ENST00000367300
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NAV1
    8/151 QIAGEN miScript miRNA Assays for microRNAs that regulate NAV1 (see all 151):
    hsa-miR-576-3p hsa-miR-631 hsa-miR-1914* hsa-miR-1260b hsa-miR-877* hsa-miR-409-5p hsa-miR-3622b-3p hsa-miR-298
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NAV1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NAV1
    Clone
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    OriGene clones in human, mouse for NAV1 (see all 9)
    OriGene ORF clones in mouse, rat for NAV1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NAV1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NAV1
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    OriGene qSTAR qPCR primer pairs in human, mouse for NAV1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NAV1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NAV1

    Additional mRNA sequence: 

    AB032977.3 AB033039.1 AF086348.1 AJ488101.1 AK022622.1 AK022631.1 AK024265.1 AK056158.1 
    AK091567.1 AL133664.1 AY043013.1 BC007523.1 BC069250.1 BC117683.1 BX648460.1 CR936811.1 

    22 DOTS entries:

    DT.95311045  DT.95143036  DT.100017088  DT.205340  DT.101983412  DT.121338801  DT.95343066  DT.95131868 
    DT.100794609  DT.40299118  DT.91826624  DT.95086544  DT.87046235  DT.91710046  DT.121338860  DT.91954325 
    DT.75169939  DT.86841911  DT.95311047  DT.40112361  DT.75110211  DT.97824207 

    24/293 AceView cDNA sequences (see all 293):

    T16632 AI937060 AB032977 BC007523 BU631903 AU124957 AK091567 AI014889 
    AI754668 BQ213563 AA486151 AI870494 AA233277 Z41591 BU742921 AI199773 
    BQ447636 AF086348 T33464 AI375880 AU131723 AW291468 AW051342 BF726624 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for NAV1 (see all 7)    About this scheme

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

    ExUns: 22 ^ 23
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for NAV1

    (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

    NAV1 expression in normal human tissues (normalized intensities)      NAV1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTCCTCCCA
    NAV1 Expression
    About this image


    NAV1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Medulla Oblongata
             N2/LSB induced-cells ( Generation of midbrain dopaminergic, forebrain and hypothalamic...
             entorhinal cortex layer ii stellate island cells   
     
     Uterus (Reproductive System)
             endometrial endothelial cell   
     
     Chorion (Extraembryonic Tissues)
             chorion villus cells   
     
     Cartilage (Muscoskeletal System)
             synovial membrane   
     
     Neural Tube (Nervous System)
             Metencephalon

    See NAV1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NAV1

    SOURCE GeneReport for Unigene cluster: Hs.585374

    UniProtKB/Swiss-Prot: NAV1_HUMAN, Q8NEY1
    Tissue specificity: Broadly expressed at low levels. Expressed at high levels in heart, skeletal muscle and
    placenta

        SABiosciences Custom PCR Arrays for NAV1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NAV1

    (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 animals.

    Orthologs for NAV1 gene from 6/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nav11 , 5 neuron navigator 11, 5 90.24(n)1
    96.63(a)1
      1 (58.79 cM)5
    2156901  NM_173437.21  NP_775613.21 
     1354345805 
    chicken
    (Gallus gallus)
    Aves NAV11 neuron navigator 1 79.94(n)
    87.63(a)
      430162  XM_427719.3  XP_427719.3 
    lizard
    (Anolis carolinensis)
    Reptilia NAV16
    Uncharacterized protein
    85(a)
    1 ↔ 1
    4(132003597-132043808)
    zebrafish
    (Danio rerio)
    Actinopterygii nav11 neuron navigator 1 64.49(n)
    64.32(a)
      100536287  XM_003201170.1  XP_003201218.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sick6
    sickie
    15(a)
    1 → many
    2L(19796365-19958424)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-536
    Adapter protein unc-53
    18(a)
    1 → many
    II(11058101-11089456)


    ENSEMBL Gene Tree for NAV1 (if available)
    TreeFam Gene Tree for NAV1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NAV1 gene
    NAV32  NAV22  
    3 SIMAP similar genes for NAV1 using alignment to 5 protein entries:     NAV1_HUMAN (see all proteins):
    DKFZp434O2321    NAV2    NAV3

    NAV1 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

    10/3490 SNPs in NAV1 are shown (see all 3490)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0322474
    ----see VAR_0322472 H D mis40--------
    VAR_0322464
    ----see VAR_0322462 S L mis40--------
    rs6594701,2
    C,F,A,H--201615519(+) ATGTCT/CGTCTA 1 -- us2k125Minor allele frequency- C:0.28MN NS EA NA WA CSA 2539
    rs1901379381,2
    --201615615(+) TTGTAC/TTCCCT 1 -- us2k10--------
    rs1418479661,2
    --201615666(+) AGAATC/TGCCAC 1 -- us2k10--------
    rs1165714811,2
    C,F--201615744(+) ACTCTA/GTATTC 1 -- us2k11Minor allele frequency- G:0.01NA 120
    rs1507855891,2
    --201615923(+) AACACC/TTGCTC 1 -- us2k10--------
    rs751999931,2
    C,F--201615982(+) CTGGCG/AGGGGA 1 -- us2k11Minor allele frequency- A:0.04WA 118
    rs1159819151,2
    C,F--201616132(+) GTTGGG/ATTTGG 1 -- us2k11Minor allele frequency- A:0.01NA 120
    rs1821932581,2
    --201616157(+) CTGATA/GGTTAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NAV1 (201592411 - 201796102 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for NAV1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2721495CNV Deletion23290073
    esv2666987CNV Deletion23128226
    esv2721506CNV Deletion23290073
    esv2676669CNV Deletion23128226
    nsv826187CNV Loss20364138
    nsv818766CNV Loss17921354
    esv1632559OTHER Inversion17803354

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    (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
    OMIM gene information: 611628    OMIM disorders: --

    4 diseases for NAV1:    About MalaCards
    erythromelalgia    brugada syndrome    neuronitis    influenza

    1 disease from the University of Copenhagen DISEASES database for NAV1:
    Brugada syndrome

    NAV1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NAV1

    Export disorders for NAV1 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 NAV1 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with NAV1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Neuron navigator: a human gene family with homology to unc-53, a cell guidance gene from Caenorhabditis elegans. (PubMed id 12079279)1, 2, 3 Maes T.... Buesa C. (2002)
    2. Pore membrane and/or filament interacting like protein 1 (POMFIL1) is predominantly expressed in the nervous system and encodes different protein isoforms. (PubMed id 12062803)1, 2, 3 Coy J.F....Poustka A. (2002)
    3. Sensory deficits in mice hypomorphic for a mammalian homologue of unc-53. (PubMed id 15158073)1, 2 Peeters P.J.... Moechars D.W.E. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2 Hirosawa M.... Ohara O. (1999)
    6. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    9. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    10. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)

    (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: 89796 HGNC: 15989 AceView: NAV1 Ensembl:ENSG00000134369 euGenes: HUgn89796
    ECgene: NAV1 H-InvDB: NAV1

    (According to HUGE)
    About This Section
    HUGE: KIAA1151 KIAA1213

    (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 NAV1 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 NAV1 gene:
    Search GeneIP for patents involving NAV1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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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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