SCN3A: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Sodium channel, voltage-gated, type III, alpha subunit''' ('''SCN3A''') is a  [[protein]] that in humans is encoded by the '''Nav1.3''' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SCN3A sodium channel, voltage-gated, type III, alpha subunit| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6328| access-date = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_SCN3A_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1byy.
| PDB = {{PDB2|1byy}}
| Name = Sodium channel, voltage-gated, type III, alpha subunit
| HGNCid = 10590
| Symbol = SCN3A
| AltSymbols =; KIAA1356; NAC3; Nav1.3
| OMIM = 182391
| ECnumber = 
| Homologene = 56005
| MGIid = 98249
| GeneAtlas_image1 = PBB_GE_SCN3A_210432_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005248 |text = voltage-gated sodium channel activity}} {{GNF_GO|id=GO:0031402 |text = sodium ion binding}}
| Component = {{GNF_GO|id=GO:0001518 |text = voltage-gated sodium channel complex}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006814 |text = sodium ion transport}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6328
    | Hs_Ensembl = ENSG00000153253
    | Hs_RefseqProtein = NP_001075145
    | Hs_RefseqmRNA = NM_001081676
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 165652286
    | Hs_GenLoc_end = 165768799
    | Hs_Uniprot = Q9NY46
    | Mm_EntrezGene = 20269
    | Mm_Ensembl = ENSMUSG00000057182
    | Mm_RefseqmRNA = XM_001001516
    | Mm_RefseqProtein = XP_001001516
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 65295680
    | Mm_GenLoc_end = 65337515
    | Mm_Uniprot = 
  }}
}}
'''Sodium channel, voltage-gated, type III, alpha subunit''' ('''SCN3A'''), also known as '''Nav1.3''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SCN3A sodium channel, voltage-gated, type III, alpha subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6328| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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 potential]]s in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = 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, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.<ref name="entrez">{{cite web | title = Entrez Gene: SCN3A sodium channel, voltage-gated, type III, alpha subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6328| accessdate = }}</ref>
}}


==See also==
SCN3A is involved in folding the human [[cerebral cortex]], a process called "[[gyrification]]".<ref>{{cite journal | vauthors = Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, Hill RS, Shin T, Chen AY, Doan RN, Anttonen AK, Ignatius J, Medne L, Bönnemann CG, Hecht JL, Salonen O, Barkovich AJ, Poduri A, Wilke M, de Wit MC, Mancini GM, Sztriha L, Im K, Amrom D, Andermann E, Paetau R, Lehesjoki AE, Walsh CA, Lehtinen MK | display-authors = 6| title = Sodium Channel SCN3A (Na<sub>V</sub>1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development | journal = Neuron | volume = 99 | issue = 5 | pages = 905–913.e7 | date = September 2018 | pmid = 30146301 | doi = 10.1016/j.neuron.2018.07.052 }}</ref>
 
== See also ==
* [[Sodium channel]]
* [[Sodium channel]]


==References==
== References ==
{{reflist|2}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin|35em}}
{{PBB_Further_reading
* {{cite journal | vauthors = Catterall WA, Goldin AL, Waxman SG | title = International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels | journal = Pharmacological Reviews | volume = 57 | issue = 4 | pages = 397–409 | date = December 2005 | pmid = 16382098 | doi = 10.1124/pr.57.4.4 }}
| citations =
* {{cite journal | vauthors = Malo MS, Srivastava K, Andresen JM, Chen XN, Korenberg JR, Ingram VM | title = Targeted gene walking by low stringency polymerase chain reaction: assignment of a putative human brain sodium channel gene (SCN3A) to chromosome 2q24-31 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 91 | issue = 8 | pages = 2975–9 | date = April 1994 | pmid = 8159690 | pmc = 43497 | doi = 10.1073/pnas.91.8.2975 }}
*{{cite journal | author=Catterall WA, Goldin AL, Waxman SG |title=International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels. |journal=Pharmacol. Rev. |volume=57 |issue= 4 |pages= 397-409 |year= 2006 |pmid= 16382098 |doi= 10.1124/pr.57.4.4 }}
* {{cite journal | vauthors = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Research | volume = 6 | issue = 9 | pages = 791–806 | date = September 1996 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 }}
*{{cite journal | author=Malo MS, Srivastava K, Andresen JM, ''et al.'' |title=Targeted gene walking by low stringency polymerase chain reaction: assignment of a putative human brain sodium channel gene (SCN3A) to chromosome 2q24-31. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=91 |issue= 8 |pages= 2975-9 |year= 1994 |pmid= 8159690 |doi= }}
* {{cite journal | vauthors = Lu CM, Brown GB | title = Isolation of a human-brain sodium-channel gene encoding two isoforms of the subtype III alpha-subunit | journal = Journal of Molecular Neuroscience | volume = 10 | issue = 1 | pages = 67–70 | date = February 1998 | pmid = 9589372 | doi = 10.1007/BF02737087 }}
*{{cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791-806 |year= 1997 |pmid= 8889548 |doi= }}
* {{cite journal | vauthors = Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro | journal = DNA Research | volume = 7 | issue = 1 | pages = 65–73 | date = February 2000 | pmid = 10718198 | doi = 10.1093/dnares/7.1.65 }}
*{{cite journal | author=Lu CM, Brown GB |title=Isolation of a human-brain sodium-channel gene encoding two isoforms of the subtype III alpha-subunit. |journal=J. Mol. Neurosci. |volume=10 |issue= 1 |pages= 67-70 |year= 1998 |pmid= 9589372 |doi= }}
* {{cite journal | vauthors = Gotthardt M, Trommsdorff M, Nevitt MF, Shelton J, Richardson JA, Stockinger W, Nimpf J, Herz J | title = Interactions of the low density lipoprotein receptor gene family with cytosolic adaptor and scaffold proteins suggest diverse biological functions in cellular communication and signal transduction | journal = The Journal of Biological Chemistry | volume = 275 | issue = 33 | pages = 25616–24 | date = August 2000 | pmid = 10827173 | doi = 10.1074/jbc.M000955200 }}
*{{cite journal | author=Nagase T, Kikuno R, Ishikawa KI, ''et al.'' |title=Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=7 |issue= 1 |pages= 65-73 |year= 2000 |pmid= 10718198 |doi= }}
* {{cite journal | vauthors = Chen YH, Dale TJ, Romanos MA, Whitaker WR, Xie XM, Clare JJ | title = Cloning, distribution and functional analysis of the type III sodium channel from human brain | journal = The European Journal of Neuroscience | volume = 12 | issue = 12 | pages = 4281–9 | date = December 2000 | pmid = 11122339 | doi = 10.1046/j.1460-9568.2000.01336.x }}
*{{cite journal | author=Gotthardt M, Trommsdorff M, Nevitt MF, ''et al.'' |title=Interactions of the low density lipoprotein receptor gene family with cytosolic adaptor and scaffold proteins suggest diverse biological functions in cellular communication and signal transduction. |journal=J. Biol. Chem. |volume=275 |issue= 33 |pages= 25616-24 |year= 2000 |pmid= 10827173 |doi= 10.1074/jbc.M000955200 }}
* {{cite journal | vauthors = Kasai N, Fukushima K, Ueki Y, Prasad S, Nosakowski J, Sugata K, Sugata A, Nishizaki K, Meyer NC, Smith RJ | title = Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus | journal = Gene | volume = 264 | issue = 1 | pages = 113–22 | date = February 2001 | pmid = 11245985 | doi = 10.1016/S0378-1119(00)00594-1 }}
*{{cite journal | author=Chen YH, Dale TJ, Romanos MA, ''et al.'' |title=Cloning, distribution and functional analysis of the type III sodium channel from human brain. |journal=Eur. J. Neurosci. |volume=12 |issue= 12 |pages= 4281-9 |year= 2001 |pmid= 11122339 |doi= }}
* {{cite journal | vauthors = Whitaker WR, Faull RL, Dragunow M, Mee EW, Emson PC, Clare JJ | title = Changes in the mRNAs encoding voltage-gated sodium channel types II and III in human epileptic hippocampus | journal = Neuroscience | volume = 106 | issue = 2 | pages = 275–85 | year = 2001 | pmid = 11566500 | doi = 10.1016/S0306-4522(01)00212-3 }}
*{{cite journal | author=Kasai N, Fukushima K, Ueki Y, ''et al.'' |title=Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus. |journal=Gene |volume=264 |issue= 1 |pages= 113-22 |year= 2001 |pmid= 11245985 |doi= }}
* {{cite journal | vauthors = Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH | title = Sodium channels SCN1A, SCN2A and SCN3A in familial autism | journal = Molecular Psychiatry | volume = 8 | issue = 2 | pages = 186–94 | date = February 2003 | pmid = 12610651 | doi = 10.1038/sj.mp.4001241 }}
*{{cite journal | author=Whitaker WR, Faull RL, Dragunow M, ''et al.'' |title=Changes in the mRNAs encoding voltage-gated sodium channel types II and III in human epileptic hippocampus. |journal=Neuroscience |volume=106 |issue= 2 |pages= 275-85 |year= 2001 |pmid= 11566500 |doi= }}
* {{cite journal | vauthors = Shah BS, Rush AM, Liu S, Tyrrell L, Black JA, Dib-Hajj SD, Waxman SG | title = Contactin associates with sodium channel Nav1.3 in native tissues and increases channel density at the cell surface | journal = The Journal of Neuroscience | volume = 24 | issue = 33 | pages = 7387–99 | date = August 2004 | pmid = 15317864 | doi = 10.1523/JNEUROSCI.0322-04.2004 }}
*{{cite journal | author=Weiss LA, Escayg A, Kearney JA, ''et al.'' |title=Sodium channels SCN1A, SCN2A and SCN3A in familial autism. |journal=Mol. Psychiatry |volume=8 |issue= 2 |pages= 186-94 |year= 2003 |pmid= 12610651 |doi= 10.1038/sj.mp.4001241 }}
* {{cite journal | vauthors = Thimmapaya R, Neelands T, Niforatos W, Davis-Taber RA, Choi W, Putman CB, Kroeger PE, Packer J, Gopalakrishnan M, Faltynek CR, Surowy CS, Scott VE | title = Distribution and functional characterization of human Nav1.3 splice variants | journal = The European Journal of Neuroscience | volume = 22 | issue = 1 | pages = 1–9 | date = July 2005 | pmid = 16029190 | doi = 10.1111/j.1460-9568.2005.04155.x }}
*{{cite journal | author=Shah BS, Rush AM, Liu S, ''et al.'' |title=Contactin associates with sodium channel Nav1.3 in native tissues and increases channel density at the cell surface. |journal=J. Neurosci. |volume=24 |issue= 33 |pages= 7387-99 |year= 2004 |pmid= 15317864 |doi= 10.1523/JNEUROSCI.0322-04.2004 }}
* {{cite journal | vauthors = Platoshyn O, Remillard CV, Fantozzi I, Sison T, Yuan JX | title = Identification of functional voltage-gated Na(+) channels in cultured human pulmonary artery smooth muscle cells | journal = Pflügers Archiv | volume = 451 | issue = 2 | pages = 380–387 | date = November 2005 | pmid = 16052353 | pmc = 1351366 | doi = 10.1007/s00424-005-1478-3 }}
*{{cite journal | author=Thimmapaya R, Neelands T, Niforatos W, ''et al.'' |title=Distribution and functional characterization of human Nav1.3 splice variants. |journal=Eur. J. Neurosci. |volume=22 |issue= 1 |pages= 1-9 |year= 2005 |pmid= 16029190 |doi= 10.1111/j.1460-9568.2005.04155.x }}
* {{cite journal | vauthors = Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S | title = Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes | journal = Genome Research | volume = 16 | issue = 1 | pages = 55–65 | date = January 2006 | pmid = 16344560 | pmc = 1356129 | doi = 10.1101/gr.4039406 }}
*{{cite journal | author=Platoshyn O, Remillard CV, Fantozzi I, ''et al.'' |title=Identification of functional voltage-gated Na(+) channels in cultured human pulmonary artery smooth muscle cells. |journal=Pflugers Arch. |volume=451 |issue= 2 |pages= 380-7 |year= 2006 |pmid= 16052353 |doi= 10.1007/s00424-005-1478-3 }}
* {{cite journal | vauthors = Martin MS, Tang B, Ta N, Escayg A | title = Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences | journal = Genomics | volume = 90 | issue = 2 | pages = 225–35 | date = August 2007 | pmid = 17544618 | pmc = 2637551 | doi = 10.1016/j.ygeno.2007.04.006 }}
*{{cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55-65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 }}
*{{cite journal | author=Martin MS, Tang B, Ta N, Escayg A |title=Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences. |journal=Genomics |volume=90 |issue= 2 |pages= 225-35 |year= 2007 |pmid= 17544618 |doi= 10.1016/j.ygeno.2007.04.006 }}
}}
{{refend}}
{{refend}}


== External links ==
== External links ==
* {{MeshName|SCN3A+protein,+human}}
* {{MeshName|SCN3A+protein,+human}}
{{PDB Gallery|geneid=6328}}
{{Ion channels|g2}}
{{NLM content}}
[[Category:Sodium channels]]


{{membrane-protein-stub}}
{{membrane-protein-stub}}
{{NLM content}}
{{Ion channels}}
[[Category:Ion channels]]
{{WikiDoc Sources}}

Latest revision as of 17:17, 9 October 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Sodium channel, voltage-gated, type III, alpha subunit (SCN3A) is a protein that in humans is encoded by the Nav1.3 gene.[1]

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, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.[1]

SCN3A is involved in folding the human cerebral cortex, a process called "gyrification".[2]

See also

References

  1. ↑ 1.0 1.1 "Entrez Gene: SCN3A sodium channel, voltage-gated, type III, alpha subunit".
  2. ↑ Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, et al. (September 2018). "Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development". Neuron. 99 (5): 905–913.e7. doi:10.1016/j.neuron.2018.07.052. PMID 30146301.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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