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    NAV1 neuron navigator 1 [ Homo sapiens (human) ]

    Gene ID: 89796, updated on 28-Oct-2024

    Summary

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    Official Symbol
    NAV1provided by HGNC
    Official Full Name
    neuron navigator 1provided by HGNC
    Primary source
    HGNC:HGNC:15989
    See related
    Ensembl:ENSG00000134369 MIM:611628; AllianceGenome:HGNC:15989
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    POMFIL3; UNC53H1; STEERIN1
    Summary
    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]
    Expression
    Ubiquitous expression in brain (RPKM 9.5), fat (RPKM 4.5) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NAV1 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (201539127..201826969)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (200796899..201084738)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (201508255..201796097)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1692 Neighboring gene uncharacterized LOC124904484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2321 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201487479-201487990 Neighboring gene cysteine and glycine rich protein 1 Neighboring gene CSRP1 antisense RNA 1 Neighboring gene ribosomal protein S10 pseudogene 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201534809-201535310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201535311-201535810 Neighboring gene CRISPRi-validated cis-regulatory element chr1.10615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201560646-201561209 Neighboring gene uncharacterized LOC124904482 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:201591323-201591707 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201597565-201598066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201653379-201653880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201653881-201654380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201659372-201659872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201672490-201673062 Neighboring gene IPO9 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 1273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201688752-201689398 Neighboring gene uncharacterized LOC124904483 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:201693607-201694108 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:201706423-201706974 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:201706975-201707524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1694 Neighboring gene microRNA 5191 Neighboring gene RNA, U6 small nuclear 501, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201721153-201721652 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:201757192-201757692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201796884-201797398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201797399-201797912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2322 Neighboring gene Sharpr-MPRA regulatory region 13839 Neighboring gene microRNA 1231 Neighboring gene Sharpr-MPRA regulatory region 12270 Neighboring gene Sharpr-MPRA regulatory region 11581 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:201837758-201837973 Neighboring gene importin 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201851435-201851934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2323 Neighboring gene Sharpr-MPRA regulatory region 2190 Neighboring gene microRNA 6739 Neighboring gene shisa family member 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes. Witkowski G, et al. Int J Mol Sci, 2024 Feb 1. PMID 38339022, Free PMC Article
    2. Genetic Association Analyses Highlight IL6, ALPL, and NAV1 As 3 New Susceptibility Genes Underlying Calcific Aortic Valve Stenosis. Thériault S, et al. Circ Genom Precis Med, 2019 Oct. PMID 32141789
    3. Na(v)1.7 as a chondrocyte regulator and therapeutic target for osteoarthritis. Fu W, et al. Nature, 2024 Jan. PMID 38172636, Free PMC Article
    4. Neuron navigator: a human gene family with homology to unc-53, a cell guidance gene from Caenorhabditis elegans. Maes T, et al. Genomics, 2002 Jul. PMID 12079279
    5. Sensory deficits in mice hypomorphic for a mammalian homologue of unc-53. Peeters PJ, et al. Brain Res Dev Brain Res, 2004 Jun 21. PMID 15158073

    See all (65) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes.
      Title: Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes.
    2. Nav1.7 as a chondrocyte regulator and therapeutic target for osteoarthritis.
      Title: Na(v)1.7 as a chondrocyte regulator and therapeutic target for osteoarthritis.
    3. Genetic Association Analyses Highlight IL6, ALPL, and NAV1 As 3 New Susceptibility Genes Underlying Calcific Aortic Valve Stenosis.
      Title: Genetic Association Analyses Highlight IL6, ALPL, and NAV1 As 3 New Susceptibility Genes Underlying Calcific Aortic Valve Stenosis.
    4. The +TIP Navigator 1 (NAV1) is important for neurite outgrowth and interacts and colocalizes with TRIO, a Rho guanine nucleotide exchange factor that enables neurite outgrowth by activating the Rho GTPases Rac1 and RhoG.
      Title: Dynamic microtubules catalyze formation of navigator-TRIO complexes to regulate neurite extension.
    5. NAV1 forms a complex with the RhoGEF TRIO and the +TIP EB1 on the plus ends of growing microtubules, and regulates TRIO-mediated Rac1 activation and neurite outgrowth.
      Title: Dynamic microtubules catalyze formation of navigator-TRIO complexes to regulate neurite extension.
    6. cloning of the gene neuron navigator-1 (NAV1), a human homolog of unc-53, a gene involved in axon guidance in Caenorhabditis elegans
      Title: Neuron navigator: a human gene family with homology to unc-53, a cell guidance gene from Caenorhabditis elegans.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12560, FLJ14203, KIAA1151, MGC14961, DKFZp781D0314

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in microtubule bundle formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuron migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axon initial segment IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in microtubule cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    neuron navigator 1
    Names
    pore membrane and/or filament interacting like protein 3
    unc-53 homolog 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_053179.2 RefSeqGene

      Range
      5002..292844
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001167738.2 → NP_001161210.1  neuron navigator 1 isoform 2

      See identical proteins and their annotated locations for NP_001161210.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, uses an alternate start codon, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL645504
      Consensus CDS
      CCDS53456.1
      UniProtKB/Swiss-Prot
      Q8NEY1
      Related
      ENSP00000356264.1, ENST00000367295.5
      Conserved Domains (2) summary
      smart00382
      Location:1156 → 1267
      AAA; ATPases associated with a variety of cellular activities
      cl25732
      Location:688 → 772
      SMC_N; RecF/RecN/SMC N terminal domain

    2. NM_001389611.1 → NP_001376540.1  neuron navigator 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL645504
      Conserved Domains (2) summary
      smart00382
      Location:1159 → 1270
      AAA; ATPases associated with a variety of cellular activities
      TIGR02168
      Location:688 → 772
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    3. NM_001389612.1 → NP_001376541.1  neuron navigator 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL645504
      Conserved Domains (2) summary
      smart00382
      Location:1148 → 1259
      AAA; ATPases associated with a variety of cellular activities
      TIGR02168
      Location:683 → 764
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    4. NM_001389613.1 → NP_001376542.1  neuron navigator 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL645504
      Conserved Domains (2) summary
      smart00382
      Location:1102 → 1213
      AAA; ATPases associated with a variety of cellular activities
      TIGR02168
      Location:631 → 715
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    5. NM_001389614.1 → NP_001376543.1  neuron navigator 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL645504
      Conserved Domains (2) summary
      smart00382
      Location:1091 → 1202
      AAA; ATPases associated with a variety of cellular activities
      TIGR02168
      Location:626 → 707
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    6. NM_001389615.1 → NP_001376544.1  neuron navigator 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC092800, AC096677, AL512788, AL645504
      UniProtKB/TrEMBL
      A0A0A0MRJ3
      Conserved Domains (3) summary
      smart00382
      Location:1769 → 1880
      AAA; ATPases associated with a variety of cellular activities
      PHA03378
      Location:31 → 240
      PHA03378; EBNA-3B; Provisional
      TIGR02168
      Location:1304 → 1385
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    7. NM_001389616.1 → NP_001376545.1  neuron navigator 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC092800, AC096677, AL512788, AL645504
      UniProtKB/TrEMBL
      A0A0A0MRJ3
      Related
      ENSP00000356271.1, ENST00000367302.5
      Conserved Domains (3) summary
      smart00382
      Location:1780 → 1891
      AAA; ATPases associated with a variety of cellular activities
      PHA03378
      Location:31 → 240
      PHA03378; EBNA-3B; Provisional
      TIGR02168
      Location:1309 → 1393
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    8. NM_001389617.1 → NP_001376546.1  neuron navigator 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC092800, AC096677, AL512788, AL645504
      Consensus CDS
      CCDS91142.1
      UniProtKB/TrEMBL
      A0A0A0MRJ3, A0A8I5KSE4
      Related
      ENSP00000510803.1, ENST00000685211.1
      Conserved Domains (3) summary
      smart00382
      Location:1837 → 1948
      AAA; ATPases associated with a variety of cellular activities
      PHA03378
      Location:31 → 240
      PHA03378; EBNA-3B; Provisional
      TIGR02168
      Location:1366 → 1450
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    9. NM_020443.5 → NP_065176.3  neuron navigator 1 isoform 1

      See identical proteins and their annotated locations for NP_065176.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform (1).
      Source sequence(s)
      AC092800, AL645504
      Consensus CDS
      CCDS1414.2
      UniProtKB/Swiss-Prot
      A8MS88, Q5SVH1, Q5SVH2, Q5SVH3, Q5SVH7, Q5VUY9, Q8IVL2, Q8NEY1, Q96II1, Q9H7V9, Q9H9S9, Q9H9T5, Q9UGI1, Q9ULK7, Q9ULR9
      UniProtKB/TrEMBL
      A0A0A0MRJ3
      Related
      ENSP00000356265.4, ENST00000367296.8
      Conserved Domains (2) summary
      smart00382
      Location:1550 → 1661
      AAA; ATPases associated with a variety of cellular activities
      cl25732
      Location:1079 → 1163
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      201539127..201826969
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      200796899..201084738
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NEY1.2 GenPept UniProtKB/Swiss-Prot:Q8NEY1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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