Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NAV1 Gene

Aliases for NAV1 Gene

  • Neuron Navigator 1 2 3 5
  • Pore Membrane And/Or Filament Interacting Like Protein 3 2 3
  • Unc-53 Homolog 1 3 4
  • STEERIN1 3 4
  • UNC53H1 3 4
  • POMFIL3 3 4
  • Pore Membrane And/Or Filament-Interacting-Like Protein 3 4
  • Neuron Navigator-1 2
  • Steerin-1 4
  • KIAA1151 4
  • KIAA1213 4

External Ids for NAV1 Gene

Previous GeneCards Identifiers for NAV1 Gene

  • GC01P199392
  • GC01P197115
  • GC01P198083
  • GC01P198905
  • GC01P198349
  • GC01P199859
  • GC01P199884
  • GC01P172783

Summaries for NAV1 Gene

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 Myotonia Congenita and Long Qt Syndrome 3. An important paralog of this gene is NAV2.

UniProtKB/Swiss-Prot for NAV1 Gene

  • May be involved in neuronal migration.

Gene Wiki entry for NAV1 Gene

Additional gene information for NAV1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAV1 Gene

Genomics for NAV1 Gene

GeneHancer (GH) Regulatory Elements for NAV1 Gene

Promoters and enhancers for NAV1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I201645 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 572.1 +110.1 110103 7.1 PKNOX1 ATF1 SIN3A GLIS2 SP3 REST MBD2 MEF2D ZNF184 SMARCA4 NAV1 GC01P201650 ENSG00000236390 RNU6-501P ENSG00000235121 IPO9 IPO9-AS1 CSRP1 ENSG00000224536 LMOD1
GH01I201736 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 557.5 +199.9 199851 5.3 CLOCK NFIB KLF17 SIN3A GLIS2 ELF1 REST ZEB2 ZNF148 SP1 NAV1 ENSG00000235121 IPO9 MIR1231 IPO9-AS1
GH01I201534 Enhancer 1.4 Ensembl ENCODE dbSUPER 581.5 +0.4 380 9.4 PKNOX1 ATF1 SIN3A FEZF1 ZBTB7B ZNF121 ZNF766 GLIS2 ZNF213 ELK1 NAV1 GC01P201538 GC01P201537 ENSG00000224536 CSRP1 RNU6-501P ENSG00000235121 PHLDA3 ENSG00000224818 ENSG00000236390
GH01I201530 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 30.3 -7.6 -7634 2.8 HDAC1 PKNOX1 CLOCK ATF1 RB1 ZSCAN4 SIN3A ZNF2 RAD21 GLIS2 NAV1 CSRP1 ENSG00000224536 PHLDA3 ENSG00000224818 RNU6-501P ENSG00000235121 ENSG00000236390 RPS10P7 GC01P201537
GH01I201498 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.3 -36.0 -35961 10.2 PKNOX1 FOXA2 ZFP64 NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 CSRP1 IPO9-AS1 ELF3-AS1 IPO9 RNPEP ENSG00000273478 DDX59 RPS10P7 NAV1 ENSG00000235121
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NAV1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NAV1 gene promoter:

Genomic Locations for NAV1 Gene

Genomic Locations for NAV1 Gene
chr1:201,539,102-201,826,974
(GRCh38/hg38)
Size:
287,873 bases
Orientation:
Plus strand
chr1:201,592,411-201,796,102
(GRCh37/hg19)

Genomic View for NAV1 Gene

Genes around NAV1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAV1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAV1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAV1 Gene

Proteins for NAV1 Gene

  • Protein details for NAV1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEY1-NAV1_HUMAN
    Recommended name:
    Neuron navigator 1
    Protein Accession:
    Q8NEY1
    Secondary Accessions:
    • A8MS88
    • Q5SVH1
    • Q5SVH2
    • Q5SVH3
    • Q5SVH7
    • Q5VUY9
    • Q8IVL2
    • Q96II1
    • Q9H7V9
    • Q9H9S9
    • Q9H9T5
    • Q9UGI1
    • Q9ULK7
    • Q9ULR9

    Protein attributes for NAV1 Gene

    Size:
    1877 amino acids
    Molecular mass:
    202472 Da
    Quaternary structure:
    • Interacts with tubulin.
    SequenceCaution:
    • Sequence=AAH07523.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14136.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14142.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14865.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAH71925.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI17010.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for NAV1 Gene

neXtProt entry for NAV1 Gene

Post-translational modifications for NAV1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for NAV1 Gene

Domains & Families for NAV1 Gene

Gene Families for NAV1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NAV1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NEY1

UniProtKB/Swiss-Prot:

NAV1_HUMAN :
  • Belongs to the Nav/unc-53 family.
Family:
  • Belongs to the Nav/unc-53 family.
genes like me logo Genes that share domains with NAV1: view

Function for NAV1 Gene

Molecular function for NAV1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in neuronal migration.

Phenotypes From GWAS Catalog for NAV1 Gene

Phenotypes for NAV1 Gene

genes like me logo Genes that share phenotypes with NAV1: view

Animal Model Products

miRNA for NAV1 Gene

miRTarBase miRNAs that target NAV1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NAV1 Gene

Localization for NAV1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAV1 Gene

Cytoplasm, cytoskeleton. Note=Associates with a subset of microtubule plus ends. Enriched in neuronal growth cones (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NAV1 gene
Compartment Confidence
cytoskeleton 3
nucleus 3
plasma membrane 1
extracellular 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NAV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0015630 microtubule cytoskeleton IEA --
GO:0043194 axon initial segment IEA --
genes like me logo Genes that share ontologies with NAV1: view

Pathways & Interactions for NAV1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NAV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001578 microtubule bundle formation IEA --
GO:0001764 neuron migration IEA --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with NAV1: view

No data available for Pathways by source and SIGNOR curated interactions for NAV1 Gene

Drugs & Compounds for NAV1 Gene

No Compound Related Data Available

Transcripts for NAV1 Gene

Unigene Clusters for NAV1 Gene

Neuron navigator 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NAV1 Gene

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: - -
SP6: - -
SP7:

ExUns: 22 ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for NAV1 Gene

GeneLoc Exon Structure for
NAV1
ECgene alternative splicing isoforms for
NAV1

Expression for NAV1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NAV1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NAV1 Gene

This gene is overexpressed in Artery - Aorta (x4.1).

Protein differential expression in normal tissues from HIPED for NAV1 Gene

This gene is overexpressed in Fetal Brain (29.8) and Urine (28.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NAV1 Gene



NURSA nuclear receptor signaling pathways regulating expression of NAV1 Gene:

NAV1

SOURCE GeneReport for Unigene cluster for NAV1 Gene:

Hs.585374

mRNA Expression by UniProt/SwissProt for NAV1 Gene:

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

Evidence on tissue expression from TISSUES for NAV1 Gene

  • Nervous system(4.9)
  • Liver(4.2)
  • Skin(4.2)
  • Heart(2.3)
  • Muscle(2.3)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with NAV1: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NAV1 Gene

Orthologs for NAV1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NAV1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NAV1 33 34
  • 99.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 97 (a)
OneToMany
-- 34
  • 80 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia NAV1 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NAV1 33 34
  • 90.62 (n)
rat
(Rattus norvegicus)
Mammalia LOC685707 33
  • 90.33 (n)
mouse
(Mus musculus)
Mammalia Nav1 33 16 34
  • 90.05 (n)
cow
(Bos Taurus)
Mammalia NAV1 33 34
  • 86.28 (n)
chicken
(Gallus gallus)
Aves NAV1 33 34
  • 79.61 (n)
lizard
(Anolis carolinensis)
Reptilia NAV1 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nav1 33
  • 65.64 (n)
zebrafish
(Danio rerio)
Actinopterygii NAV1 (1 of 3) 34
  • 67 (a)
OneToMany
LOC100005000 33
  • 65.46 (n)
FP236162.1 34
  • 61 (a)
OneToMany
NAV1 (2 of 3) 34
  • 52 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sick 34
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-53 34
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
OneToMany
Species where no ortholog for NAV1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NAV1 Gene

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

Paralogs for NAV1 Gene

Paralogs for NAV1 Gene

(3) SIMAP similar genes for NAV1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with NAV1: view

Variants for NAV1 Gene

Sequence variations from dbSNP and Humsavar for NAV1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs879255417 uncertain-significance, not specified 201,785,344(+) GGG/GG coding_sequence_variant, frameshift
rs1000005685 -- 201,810,932(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000034943 -- 201,719,525(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000090970 -- 201,675,956(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000110306 -- 201,735,532(+) A/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NAV1 Gene

Variant ID Type Subtype PubMed ID
dgv136e212 CNV loss 25503493
esv1632559 OTHER inversion 17803354
esv2666987 CNV deletion 23128226
esv2676669 CNV deletion 23128226
esv2721495 CNV deletion 23290073
esv2721506 CNV deletion 23290073
esv3588574 CNV loss 21293372
nsv1012535 CNV loss 25217958
nsv478835 CNV novel sequence insertion 20440878
nsv818766 CNV loss 17921354
nsv826187 CNV loss 20364138
nsv952637 CNV deletion 24416366

Variation tolerance for NAV1 Gene

Residual Variation Intolerance Score: 1.16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.43; 81.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NAV1 Gene

Human Gene Mutation Database (HGMD)
NAV1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAV1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAV1 Gene

Disorders for NAV1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NAV1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
myotonia congenita
  • congenital myotonia, autosomal dominant form
long qt syndrome 3
  • lqt3
brugada syndrome
  • bangungut
- elite association - COSMIC cancer census association via MalaCards
Search NAV1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NAV1

genes like me logo Genes that share disorders with NAV1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NAV1 Gene

Publications for NAV1 Gene

  1. Pore membrane and/or filament interacting like protein 1 (POMFIL1) is predominantly expressed in the nervous system and encodes different protein isoforms. (PMID: 12062803) Coy JF … Poustka A (Gene 2002) 2 3 4 58
  2. Neuron navigator: a human gene family with homology to unc-53, a cell guidance gene from Caenorhabditis elegans. (PMID: 12079279) Maes T … Buesa C (Genomics 2002) 2 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Sensory deficits in mice hypomorphic for a mammalian homologue of unc-53. (PMID: 15158073) Peeters PJ … Moechars DW (Brain research. Developmental brain research 2004) 3 4 58
  5. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 58

Products for NAV1 Gene

Sources for NAV1 Gene

Content
Loading form....