NAV3 neuron navigator 3 [Homo sapiens] - Gene

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Summary

Official Symbol: NAV3provided by HGNC
Official Full Name: neuron navigator 3provided by HGNC
Primary source: HGNC:15998
See related: Ensembl:ENSG00000067798; HPRD:10114; 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; KIAA0938
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]

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Genomic context

Location :: 12q14.3

Sequence :: Chromosome: 12; NC_000012.11 (78225069..78606790)

See NAV3 in Epigenomics, MapViewer

Chromosome 12 - NC_000012.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

NAV3 has a role in linking tissue inflammation to cancer development in the colon.
Title: Potential role of a navigator gene NAV3 in colorectal cancer.
characterized copy number changes of NAV3 in 24 basal cell cancers, eight squamous cell cancers and eight non-malignant inflammatory skin lesions
Title: NAV3 copy number changes and target genes in basal and squamous cell cancers.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
NAV3 gene would not be frequently deleted in cutaneous type leukemia/lymphoma including those with mycosis fungoides-like manifestations
Title: Cutaneous-type adult T-cell leukemia/lymphoma does not primarily show deletion of NAV3 gene.
An imbalanced fluorescence in situ hybridization pattern between NAV3 and pericentromeric control probes was seen in three patients in accordance with CGH array data. No NAV3 specific breakpoint or partial deletion was detected.
Title: Primary cutaneous T-cell lymphomas do not show specific NAV3 gene deletion or translocation.
Allelic NAV3 aberrations (LOH or deletion by FISH were identified in 44% of the subcutaneous panniculitis-like T-cell lymphoma samples.
Title: Clinicopathological characterization and genomic aberrations in subcutaneous panniculitis-like T-cell lymphoma.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

A genome-wide association study of self-rated health.

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:124604	BioGRID:106821	APC		BioGRID	PubMed	Two-hybrid
BioGRID:124604	BioGRID:113164	UBC		BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
nucleoside-triphosphatase activity	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
membrane	IEA Inferred from Electronic Annotation more info
nuclear outer membrane	IEA Inferred from Electronic Annotation more info
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: neuron navigator 3

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

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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)

NM_014903.4 → NP_055718.4 neuron navigator 3

Status: VALIDATED

Source sequence(s)

AC073571, AC073608, AC138331, AJ488201

Consensus CDS

CCDS41815.1

UniProtKB/Swiss-Prot

Q8IVL0

Related

ENSP00000446132, OTTHUMP00000242595, ENST00000536525, OTTHUMT00000406811

Conserved Domains (5) summary

cd00014
Location:81 – 182
Blast Score: 174

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 ...

cd00009
Location:2030 – 2110
Blast Score: 107

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:2027 – 2147
Blast Score: 109

AAA; ATPases associated with a variety of cellular activities

TIGR04211
Location:1570 – 1646
Blast Score: 98

SH3_and_anchor; SH3 domain protein

cl09099
Location:2014 – 2044
Blast Score: 100

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000012.11 Reference GRCh37.p5 Primary Assembly

Range

78225069..78606790

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000144.1 Alternate HuRef

Range

75278625..75660456

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC073571.14 (1800..144230)	None
genomic	AC073608.19 (2003..47264)	None
genomic	AC078822.28	None
genomic	AC090020.14 (2084..9000)	None
genomic	AC138331.4	None
genomic	CH471054.1	EAW97341.1
		EAW97342.1
mRNA	AB023155.2	BAA76782.2
mRNA	AF397731.1	AAM73757.1
mRNA	AJ488201.1	CAD32554.1
mRNA	AK022070.1	None
mRNA	AK294988.1	BAG58055.1
mRNA	AK298525.1	BAG60728.1
mRNA	BC017667.2	AAH17667.1
mRNA	BM684673.1	None
other-genetic	BC156503.1	AAI56504.1
other-genetic	BC172529.1	AAI72529.1