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    NAV3 neuron navigator 3 [ Homo sapiens (human) ]

    Gene ID: 89795, updated on 12-Aug-2018

    Summary

    Official Symbol
    NAV3provided by HGNC
    Official Full Name
    neuron navigator 3provided by HGNC
    Primary source
    HGNC:HGNC:15998
    See related
    Ensembl:ENSG00000067798 MIM:611629; Vega:OTTHUMG00000170001
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    POMFIL1; unc53H3; STEERIN3
    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. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in brain (RPKM 3.5), ovary (RPKM 2.8) and 14 other tissues See more
    Orthologs

    Genomic context

    See NAV3 in Genome Data Viewer
    Location:
    12q21.2
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (77571856..78213012)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (78224685..78606790)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369855 Neighboring gene uncharacterized LOC105369856 Neighboring gene peroxiredoxin like 2A pseudogene 1 Neighboring gene uncharacterized LOC105369859 Neighboring gene long intergenic non-protein coding RNA 2424 Neighboring gene mitochondrial ribosomal protein L11 pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of self-rated health.
    NHGRI GWA Catalog
    A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
    NHGRI GWA Catalog
    Genome-wide and candidate gene association study of cigarette smoking behaviors.
    NHGRI GWA Catalog
    Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0938

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    negative regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of interleukin-2 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of microtubule depolymerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neurogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of invadopodium disassembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of microtubule polymerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with microtubule end IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nuclear outer membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001024383.1NP_001019554.1  neuron navigator 3 isoform 1

      See identical proteins and their annotated locations for NP_001019554.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB023155, AC073571, AC073608, AC138331, AJ488201, AV728995, DR005268
      Consensus CDS
      CCDS66432.1
      UniProtKB/Swiss-Prot
      Q8IVL0
      Related
      ENSP00000381007.2, OTTHUMP00000242596, ENST00000397909.6, OTTHUMT00000406812
      Conserved Domains (6) summary
      cd00009
      Location:20522132
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      smart00382
      Location:20492169
      AAA; ATPases associated with a variety of cellular activities
      cd00014
      Location:81182
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      pfam15898
      Location:17941857
      PRKG1_interact; cGMP-dependent protein kinase interacting domain
      cl11266
      Location:468545
      EssA; WXG100 protein secretion system (Wss), protein EssA
      cl21455
      Location:20362066
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_014903.5NP_055718.4  neuron navigator 3 isoform 2

      See identical proteins and their annotated locations for NP_055718.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC073571, AC073608, AC138331, AJ488201, AV728995
      Consensus CDS
      CCDS41815.1
      UniProtKB/Swiss-Prot
      Q8IVL0
      Related
      ENSP00000446132.2, OTTHUMP00000242595, ENST00000536525.6, OTTHUMT00000406811
      Conserved Domains (6) summary
      cd00009
      Location:20302110
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      smart00382
      Location:20272147
      AAA; ATPases associated with a variety of cellular activities
      cd00014
      Location:81182
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      pfam15898
      Location:17721835
      PRKG1_interact; cGMP-dependent protein kinase interacting domain
      cl11266
      Location:468545
      EssA; WXG100 protein secretion system (Wss), protein EssA
      cl21455
      Location:20142044
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

      Range
      77571856..78213012
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020166.2XP_016875655.1  neuron navigator 3 isoform X6

    2. XM_017020167.1XP_016875656.1  neuron navigator 3 isoform X7

    3. XM_017020164.2XP_016875653.1  neuron navigator 3 isoform X1

    4. XM_017020165.1XP_016875654.1  neuron navigator 3 isoform X2

    5. XM_005269215.4XP_005269272.1  neuron navigator 3 isoform X3

      Conserved Domains (6) summary
      cd00009
      Location:20232103
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      smart00382
      Location:20202140
      AAA; ATPases associated with a variety of cellular activities
      cd00014
      Location:81182
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      pfam15898
      Location:17651828
      PRKG1_interact; cGMP-dependent protein kinase interacting domain
      cl11266
      Location:468545
      EssA; WXG100 protein secretion system (Wss), protein EssA
      cl21455
      Location:20072037
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    6. XM_011538940.2XP_011537242.1  neuron navigator 3 isoform X4

      Conserved Domains (6) summary
      cd00009
      Location:20162096
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      smart00382
      Location:20132133
      AAA; ATPases associated with a variety of cellular activities
      cd00014
      Location:81182
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      pfam15898
      Location:17581821
      PRKG1_interact; cGMP-dependent protein kinase interacting domain
      cl11266
      Location:468545
      EssA; WXG100 protein secretion system (Wss), protein EssA
      cl21455
      Location:20002030
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    7. XM_017020168.1XP_016875657.1  neuron navigator 3 isoform X8

    8. XM_017020169.2XP_016875658.1  neuron navigator 3 isoform X9

    9. XM_011538941.2XP_011537243.1  neuron navigator 3 isoform X5

      Conserved Domains (6) summary
      cd00009
      Location:20092089
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      smart00382
      Location:20062126
      AAA; ATPases associated with a variety of cellular activities
      cd00014
      Location:81182
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      pfam15898
      Location:17511814
      PRKG1_interact; cGMP-dependent protein kinase interacting domain
      cl11266
      Location:468545
      EssA; WXG100 protein secretion system (Wss), protein EssA
      cl21455
      Location:19932023
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    10. XM_011538944.3XP_011537246.1  neuron navigator 3 isoform X10

      UniProtKB/Swiss-Prot
      Q8IVL0
      Conserved Domains (6) summary
      cd00009
      Location:18531933
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      smart00382
      Location:18501970
      AAA; ATPases associated with a variety of cellular activities
      cd00014
      Location:81182
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      pfam15898
      Location:15951658
      PRKG1_interact; cGMP-dependent protein kinase interacting domain
      cl11266
      Location:468545
      EssA; WXG100 protein secretion system (Wss), protein EssA
      cl21455
      Location:18371867
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    11. XM_017020170.1XP_016875659.1  neuron navigator 3 isoform X11

    12. XM_017020171.1XP_016875660.1  neuron navigator 3 isoform X12

    13. XM_017020173.2XP_016875662.1  neuron navigator 3 isoform X14

    14. XM_017020174.1XP_016875663.1  neuron navigator 3 isoform X15

    15. XM_017020175.1XP_016875664.1  neuron navigator 3 isoform X16

    16. XM_017020172.1XP_016875661.1  neuron navigator 3 isoform X13

      Related
      ENSP00000495503.1, ENST00000644176.1
      Conserved Domains (4) summary
      cd00009
      Location:15091589
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      smart00382
      Location:15061626
      AAA; ATPases associated with a variety of cellular activities
      pfam15898
      Location:12511314
      PRKG1_interact; cGMP-dependent protein kinase interacting domain
      cl21455
      Location:14931523
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
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