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NAV1 neuron navigator 1 [ Homo sapiens (human) ]

Gene ID: 89796, updated on 4-Jul-2021

Summary

Official Symbol
NAV1provided by HGNC
Official Full Name
neuron navigator 1provided by HGNC
Primary source
HGNC:HGNC:15989
See related
Ensembl:ENSG00000134369 MIM:611628
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
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Genomic context

See NAV1 in Genome Data Viewer
Location:
1q32.1
Exon count:
35
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (201539127..201826969)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (201617450..201796102)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cysteine and glycine rich protein 1 Neighboring gene CSRP1 antisense RNA 1 Neighboring gene ribosomal protein S10 pseudogene 7 Neighboring gene CRISPRi-validated cis-regulatory element chr1.10615 Neighboring gene IPO9 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 1273 Neighboring gene microRNA 5191 Neighboring gene RNA, U6 small nuclear 501, pseudogene Neighboring gene Sharpr-MPRA regulatory region 13839 Neighboring gene microRNA 1231 Neighboring gene Sharpr-MPRA regulatory region 12270 Neighboring gene importin 9

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12560, FLJ14203, KIAA1151, MGC14961, DKFZp781D0314

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in microtubule bundle formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neuron migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in axon initial segment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

General protein information

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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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_053179.1 RefSeqGene

    Range
    5001..183653
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001167738.2NP_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:11561267
    AAA; ATPases associated with a variety of cellular activities
    cl25732
    Location:688772
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_001389611.1NP_001376540.1  neuron navigator 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL645504
    Conserved Domains (2) summary
    smart00382
    Location:11591270
    AAA; ATPases associated with a variety of cellular activities
    TIGR02168
    Location:688772
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  3. NM_001389612.1NP_001376541.1  neuron navigator 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL645504
    Conserved Domains (2) summary
    smart00382
    Location:11481259
    AAA; ATPases associated with a variety of cellular activities
    TIGR02168
    Location:683764
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  4. NM_001389613.1NP_001376542.1  neuron navigator 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL645504
    Conserved Domains (2) summary
    smart00382
    Location:11021213
    AAA; ATPases associated with a variety of cellular activities
    TIGR02168
    Location:631715
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  5. NM_001389614.1NP_001376543.1  neuron navigator 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL645504
    Conserved Domains (2) summary
    smart00382
    Location:10911202
    AAA; ATPases associated with a variety of cellular activities
    TIGR02168
    Location:626707
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  6. NM_001389615.1NP_001376544.1  neuron navigator 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC092800, AC096677, AL512788, AL645504
    Conserved Domains (3) summary
    smart00382
    Location:17691880
    AAA; ATPases associated with a variety of cellular activities
    PHA03378
    Location:31240
    PHA03378; EBNA-3B; Provisional
    TIGR02168
    Location:13041385
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  7. NM_001389616.1NP_001376545.1  neuron navigator 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC092800, AC096677, AL512788, AL645504
    Related
    ENSP00000356271.1, ENST00000367302.5
    Conserved Domains (3) summary
    smart00382
    Location:17801891
    AAA; ATPases associated with a variety of cellular activities
    PHA03378
    Location:31240
    PHA03378; EBNA-3B; Provisional
    TIGR02168
    Location:13091393
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  8. NM_001389617.1NP_001376546.1  neuron navigator 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC092800, AC096677, AL512788, AL645504
    Conserved Domains (3) summary
    smart00382
    Location:18371948
    AAA; ATPases associated with a variety of cellular activities
    PHA03378
    Location:31240
    PHA03378; EBNA-3B; Provisional
    TIGR02168
    Location:13661450
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  9. NM_020443.5NP_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
    Q8NEY1
    Related
    ENSP00000356265.4, ENST00000367296.8
    Conserved Domains (2) summary
    smart00382
    Location:15501661
    AAA; ATPases associated with a variety of cellular activities
    cl25732
    Location:10791163
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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