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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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