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| Neuron navigator 1 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | NAV1; POMFIL3; STEERIN1; UNC53H1 | ||||||||||||
| External IDs | OMIM: 611628 MGI: 2183683 HomoloGene: 10719 GeneCards: NAV1 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 89796 | 215690 | |||||||||||
| Ensembl | ENSG00000134369 | ENSMUSG00000009418 | |||||||||||
| UniProt | Q8NEY1 | Q8CH77 | |||||||||||
| RefSeq (mRNA) | NM_001167738.1 | NM_173437.2 | |||||||||||
| RefSeq (protein) | NP_001161210.1 | NP_775613.2 | |||||||||||
| Location (UCSC) | Chr 1: 201.59 – 201.8 Mb |
Chr 1: 137.33 – 137.48 Mb |
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| PubMed search | [1] | [2] | |||||||||||
Neuron navigator 1 is a protein that in humans is encoded by the NAV1 gene.[1][2][3]
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.[3]
References [link]
- ^ Maes T, Barcelo A, Buesa C (Jun 2002). "Neuron navigator: a human gene family with homology to unc-53, a cell guidance gene from Caenorhabditis elegans". Genomics 80 (1): 21–30. DOI:10.1006/geno.2002.6799. PMID 12079279.
- ^ Coy JF, Wiemann S, Bechmann I, Bachner D, Nitsch R, Kretz O, Christiansen H, Poustka A (Jun 2002). "Pore membrane and/or filament interacting like protein 1 (POMFIL1) is predominantly expressed in the nervous system and encodes different protein isoforms". Gene 290 (1–2): 73–94. DOI:10.1016/S0378-1119(02)00567-X. PMID 12062803.
- ^ a b "Entrez Gene: NAV1 neuron navigator 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=89796.
Further reading [link]
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. DOI:10.1101/gr.4039406. PMC 1356129. PMID 16344560. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1356129.
- Peeters PJ, Baker A, Goris I, et al. (2004). "Sensory deficits in mice hypomorphic for a mammalian homologue of unc-53". Brain Res. Dev. Brain Res. 150 (2): 89–101. DOI:10.1016/j.devbrainres.2004.03.004. PMID 15158073.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. DOI:10.1038/ng1285. PMID 14702039.
- Okazaki N, Kikuno R, Ohara R, et al. (2003). "Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries". DNA Res. 10 (1): 35–48. DOI:10.1093/dnares/10.1.35. PMID 12693553.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. DOI:10.1073/pnas.242603899. PMC 139241. PMID 12477932. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Nakayama M, Kikuno R, Ohara O (2003). "Protein–Protein Interactions Between Large Proteins: Two-Hybrid Screening Using a Functionally Classified Library Composed of Long cDNAs". Genome Res. 12 (11): 1773–84. DOI:10.1101/gr.406902. PMC 187542. PMID 12421765. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=187542.
- Nagase T, Ishikawa K, Kikuno R, et al. (2000). "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (5): 337–45. DOI:10.1093/dnares/6.5.337. PMID 10574462.
- Hirosawa M, Nagase T, Ishikawa K, et al. (2000). "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain". DNA Res. 6 (5): 329–36. DOI:10.1093/dnares/6.5.329. PMID 10574461.
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https://wn.com/NAV1
Nav1.4
Sodium channel protein type 4 subunit alpha is a protein that in humans is encoded by the SCN4A gene.
The Nav1.4 voltage-gated sodium channel is encoded by the SCN4A gene. Mutations in the gene are associated with hypokalemic periodic paralysis, hyperkalemic periodic paralysis, paramyotonia congenita, and potassium-aggravated myotonia.
Function
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders.
Clinical significance
Periodic paralysis
In hypokalemic periodic paralysis, arginine residues making up the voltage sensor of Nav1.4 are mutated. The voltage sensor comprises the S4 alpha helix of each of the four transmembrane domains (I-IV) of the protein, and contains basic residues that only allow entry of the positive sodium ions at appropriate membrane voltages by blocking or opening the channel pore. In patients with these mutations, the channel has a reduced excitability and signals from the central nervous system are unable to depolarise muscle. As a result, the muscle cannot contract efficiently, causing paralysis. The condition is hypokalemic because a low extracellular potassium ion concentration will cause the muscle to repolarise to the resting potential more quickly, so even if calcium conductance does occur it cannot be sustained. It becomes more difficult to reach the calcium threshold at which the muscle can contract, and even if this is reached then the muscle is more likely to relax. Because of this, the severity would be reduced if potassium ion concentrations are kept high.
