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    NAV3 neuron navigator 3 [ Homo sapiens (human) ]

    Gene ID: 89795, updated on 28-Oct-2024

    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; AllianceGenome:HGNC:15998
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NAV3 in Genome Data Viewer
    Location:
    12q21.2
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (77571862..78213010)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (77549793..78191344)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (78224674..78606790)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:77631785-77632286 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:77633489-77633990 Neighboring gene long intergenic non-protein coding RNA 2464 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4678 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:77741435-77742634 Neighboring gene uncharacterized LOC124902972 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:78038694-78039502 Neighboring gene NANOG hESC enhancer GRCh37_chr12:78039827-78040389 Neighboring gene Sharpr-MPRA regulatory region 9790 Neighboring gene Sharpr-MPRA regulatory region 15641 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:78282205-78283404 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:78333298-78334497 Neighboring gene NANOG hESC enhancer GRCh37_chr12:78375957-78376518 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:78495967-78496468 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:78496469-78496968 Neighboring gene peroxiredoxin like 2A pseudogene 1 Neighboring gene uncharacterized LOC105369859 Neighboring gene long intergenic non-protein coding RNA 2424 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4679 Neighboring gene mitochondrial ribosomal protein L11 pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study of self-rated health.
    EBI GWAS 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.
    EBI GWAS Catalog
    Genome-wide and candidate gene association study of cigarette smoking behaviors.
    EBI GWAS Catalog
    Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0938

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with microtubule end IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in 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)

    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.

    mRNA and Protein(s)

    1. NM_001024383.2NP_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, Q8NFW7, Q9Y2E7
      Related
      ENSP00000381007.2, ENST00000397909.7
      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_014903.6NP_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
      Consensus CDS
      CCDS41815.1
      UniProtKB/Swiss-Prot
      Q8IVL0
      Related
      ENSP00000446132.2, ENST00000536525.6
      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: 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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      77571862..78213010
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020166.3XP_016875655.1  neuron navigator 3 isoform X9

    2. XM_047429817.1XP_047285773.1  neuron navigator 3 isoform X13

    3. XM_047429823.1XP_047285779.1  neuron navigator 3 isoform X22

    4. XM_017020167.1XP_016875656.1  neuron navigator 3 isoform X12

    5. XM_047429818.1XP_047285774.1  neuron navigator 3 isoform X14

    6. XM_047429819.1XP_047285775.1  neuron navigator 3 isoform X15

    7. XM_047429826.1XP_047285782.1  neuron navigator 3 isoform X25

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

    9. XM_005269215.5XP_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
    10. XM_011538940.3XP_011537242.1  neuron navigator 3 isoform X5

      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
    11. XM_017020165.2XP_016875654.1  neuron navigator 3 isoform X2

    12. XM_011538941.3XP_011537243.1  neuron navigator 3 isoform X6

      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
    13. XM_017020168.2XP_016875657.1  neuron navigator 3 isoform X16

    14. XM_047429820.1XP_047285776.1  neuron navigator 3 isoform X18

    15. XM_017020169.3XP_016875658.1  neuron navigator 3 isoform X17

    16. XM_011538944.4XP_011537246.1  neuron navigator 3 isoform X19

      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
    17. XM_017020170.2XP_016875659.1  neuron navigator 3 isoform X20

    18. XM_047429813.1XP_047285769.1  neuron navigator 3 isoform X7

    19. XM_047429812.1XP_047285768.1  neuron navigator 3 isoform X4

    20. XM_047429814.1XP_047285770.1  neuron navigator 3 isoform X8

    21. XM_047429815.1XP_047285771.1  neuron navigator 3 isoform X10

    22. XM_047429816.1XP_047285772.1  neuron navigator 3 isoform X11

    23. XM_047429822.1XP_047285778.1  neuron navigator 3 isoform X21

    24. XM_047429824.1XP_047285780.1  neuron navigator 3 isoform X23

    25. XM_047429825.1XP_047285781.1  neuron navigator 3 isoform X24

    26. XM_017020171.2XP_016875660.1  neuron navigator 3 isoform X26

    27. XM_017020172.2XP_016875661.1  neuron navigator 3 isoform X27

      UniProtKB/TrEMBL
      A0A2R8YFX5
      Related
      ENSP00000495503.1, ENST00000644176.1
      Conserved Domains (3) summary
      smart00382
      Location:15061626
      AAA; ATPases associated with a variety of cellular activities
      PHA03307
      Location:469793
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam05109
      Location:657937
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    28. XM_017020173.3XP_016875662.1  neuron navigator 3 isoform X28

    29. XM_017020175.2XP_016875664.1  neuron navigator 3 isoform X29

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      77549793..78191344
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373734.1XP_054229709.1  neuron navigator 3 isoform X9

    2. XM_054373738.1XP_054229713.1  neuron navigator 3 isoform X13

    3. XM_054373747.1XP_054229722.1  neuron navigator 3 isoform X22

    4. XM_054373737.1XP_054229712.1  neuron navigator 3 isoform X12

    5. XM_054373739.1XP_054229714.1  neuron navigator 3 isoform X14

    6. XM_054373740.1XP_054229715.1  neuron navigator 3 isoform X15

    7. XM_054373750.1XP_054229725.1  neuron navigator 3 isoform X25

    8. XM_054373726.1XP_054229701.1  neuron navigator 3 isoform X1

    9. XM_054373728.1XP_054229703.1  neuron navigator 3 isoform X3

    10. XM_054373730.1XP_054229705.1  neuron navigator 3 isoform X5

    11. XM_054373727.1XP_054229702.1  neuron navigator 3 isoform X2

    12. XM_054373731.1XP_054229706.1  neuron navigator 3 isoform X6

    13. XM_054373741.1XP_054229716.1  neuron navigator 3 isoform X16

    14. XM_054373743.1XP_054229718.1  neuron navigator 3 isoform X18

    15. XM_054373742.1XP_054229717.1  neuron navigator 3 isoform X17

    16. XM_054373744.1XP_054229719.1  neuron navigator 3 isoform X19

    17. XM_054373745.1XP_054229720.1  neuron navigator 3 isoform X20

    18. XM_054373732.1XP_054229707.1  neuron navigator 3 isoform X7

    19. XM_054373729.1XP_054229704.1  neuron navigator 3 isoform X4

    20. XM_054373733.1XP_054229708.1  neuron navigator 3 isoform X8

    21. XM_054373735.1XP_054229710.1  neuron navigator 3 isoform X10

    22. XM_054373736.1XP_054229711.1  neuron navigator 3 isoform X11

    23. XM_054373746.1XP_054229721.1  neuron navigator 3 isoform X21

    24. XM_054373748.1XP_054229723.1  neuron navigator 3 isoform X23

    25. XM_054373749.1XP_054229724.1  neuron navigator 3 isoform X24

    26. XM_054373751.1XP_054229726.1  neuron navigator 3 isoform X26

    27. XM_054373752.1XP_054229727.1  neuron navigator 3 isoform X27

      UniProtKB/TrEMBL
      A0A2R8YFX5
    28. XM_054373753.1XP_054229728.1  neuron navigator 3 isoform X28

    29. XM_054373754.1XP_054229729.1  neuron navigator 3 isoform X29