SCN1B: Difference between revisions

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{{Infobox_gene}}
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'''Sodium channel subunit beta-1''' is a [[protein]] that in humans is encoded by the ''SCN1B'' [[gene]].<ref name="pmid8394762">{{cite journal | vauthors = McClatchey AI, Cannon SC, Slaugenhaupt SA, Gusella JF | title = The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain | journal = Hum Mol Genet | volume = 2 | issue = 6 | pages = 745–9 |date=Sep 1993 | pmid = 8394762 | pmc =  | doi =10.1093/hmg/2.6.745 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SCN1B sodium channel, voltage-gated, type I, beta| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6324| accessdate = }}</ref>
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{{GNF_Protein_box
| image = 
| image_source =
| PDB =
| Name = Sodium channel, voltage-gated, type I, beta
| HGNCid = 10586
| Symbol = SCN1B
| AltSymbols =; GEFSP1
| OMIM = 600235
| ECnumber = 
| Homologene = 810
| MGIid = 98247
| GeneAtlas_image1 = PBB_GE_SCN1B_205508_at_tn.png
| Function = {{GNF_GO|id=GO:0005216 |text = ion channel activity}} {{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:0005624 |text = membrane fraction}} {{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}} {{GNF_GO|id=GO:0007268 |text = synaptic transmission}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6324
    | Hs_Ensembl = ENSG00000105711
    | Hs_RefseqProtein = XP_001130615
    | Hs_RefseqmRNA = XM_001130615
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 19
    | Hs_GenLoc_start = 40213374
    | Hs_GenLoc_end = 40223192
    | Hs_Uniprot = Q07699
    | Mm_EntrezGene = 20266
    | Mm_Ensembl = ENSMUSG00000019194
    | Mm_RefseqmRNA = XM_994669
    | Mm_RefseqProtein = XP_999763
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 7
    | Mm_GenLoc_start = 30825284
    | Mm_GenLoc_end = 30835788
    | Mm_Uniprot = P97952
  }}
}}
'''Sodium channel, voltage-gated, type I, beta''', also known as '''SCN1B''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SCN1B sodium channel, voltage-gated, type I, beta| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6324| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = Voltage-gated sodium channels are essential for the generation and propagation of action potentials in striated muscle and neuronal tissues. Biochemically, they consist of a large alpha subunit and 1 or 2 smaller beta subunits, such as SCN1B. The alpha subunit alone can exhibit all the functional attributes of a voltage-gated Na+ channel, but requires a beta-1 subunit for normal inactivation kinetics.[supplied by OMIM]<ref name="entrez">{{cite web | title = Entrez Gene: SCN1B sodium channel, voltage-gated, type I, beta| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6324| accessdate = }}</ref>
| summary_text = Voltage-gated sodium channels are essential for the generation and propagation of action potentials in striated muscle and neuronal tissues. Biochemically, they consist of a large alpha subunit and 1 or 2 smaller beta subunits, such as SCN1B. The alpha subunit alone can exhibit all the functional attributes of a voltage-gated Na+ channel, but requires a beta-1 subunit for normal inactivation kinetics.[supplied by OMIM]<ref name="entrez" />
}}
}}
== Clinical significance ==
Mutation in the SCN1B gene are  associated with disorders such as [[Brugada syndrome]] and [[GEFS]].


==See also==
==See also==
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==References==
==References==
{{reflist|2}}
{{reflist}}


==Further reading==
==Further reading==
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| citations =  
| citations =  
*{{cite journal  | author=Hartshorne RP, Catterall WA |title=The sodium channel from rat brain. Purification and subunit composition. |journal=J. Biol. Chem. |volume=259 |issue= 3 |pages= 1667-75 |year= 1984 |pmid= 6319405 |doi=  }}
*{{cite journal  | vauthors=Hartshorne RP, Catterall WA |title=The sodium channel from rat brain. Purification and subunit composition. |journal=J. Biol. Chem. |volume=259 |issue= 3 |pages= 1667–75 |year= 1984 |pmid= 6319405 |doi=  }}
*{{cite journal | author=Makita N, Sloan-Brown K, Weghuis DO, ''et al.'' |title=Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B). |journal=Genomics |volume=23 |issue= 3 |pages= 628-34 |year= 1995 |pmid= 7851891 |doi= 10.1006/geno.1994.1551 }}
*{{cite journal   |vauthors=Makita N, Sloan-Brown K, Weghuis DO, etal |title=Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B). |journal=Genomics |volume=23 |issue= 3 |pages= 628–34 |year= 1995 |pmid= 7851891 |doi= 10.1006/geno.1994.1551 }}
*{{cite journal  | author=Makita N, Bennett PB, George AL |title=Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene. |journal=J. Biol. Chem. |volume=269 |issue= 10 |pages= 7571-8 |year= 1994 |pmid= 8125980 |doi=  }}
*{{cite journal  | vauthors=Makita N, Bennett PB, George AL |title=Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene. |journal=J. Biol. Chem. |volume=269 |issue= 10 |pages= 7571–8 |year= 1994 |pmid= 8125980 |doi=  }}
*{{cite journal | author=McClatchey AI, Cannon SC, Slaugenhaupt SA, Gusella JF |title=The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain. |journal=Hum. Mol. Genet. |volume=2 |issue= 6 |pages= 745-9 |year= 1993 |pmid= 8394762 |doi= }}
*{{cite journal   |vauthors=Wallace RH, Wang DW, Singh R, etal |title=Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. |journal=Nat. Genet. |volume=19 |issue= 4 |pages= 366–70 |year= 1998 |pmid= 9697698 |doi= 10.1038/1252 }}
*{{cite journal  | author=Wallace RH, Wang DW, Singh R, ''et al.'' |title=Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. |journal=Nat. Genet. |volume=19 |issue= 4 |pages= 366-70 |year= 1998 |pmid= 9697698 |doi= 10.1038/1252 }}
*{{cite journal  | vauthors=Ratcliffe CF, Westenbroek RE, Curtis R, Catterall WA |title=Sodium channel beta1 and beta3 subunits associate with neurofascin through their extracellular immunoglobulin-like domain. |journal=J. Cell Biol. |volume=154 |issue= 2 |pages= 427–34 |year= 2001 |pmid= 11470829 |doi=10.1083/jcb.200102086  | pmc=2150779  }}
*{{cite journal | author=Ratcliffe CF, Westenbroek RE, Curtis R, Catterall WA |title=Sodium channel beta1 and beta3 subunits associate with neurofascin through their extracellular immunoglobulin-like domain. |journal=J. Cell Biol. |volume=154 |issue= 2 |pages= 427-34 |year= 2001 |pmid= 11470829 |doi=  }}
*{{cite journal   |vauthors=Fahmi AI, Patel M, Stevens EB, etal |title=The sodium channel beta-subunit SCN3b modulates the kinetics of SCN5a and is expressed heterogeneously in sheep heart. |journal=J. Physiol. |volume=537 |issue= Pt 3 |pages= 693–700 |year= 2002 |pmid= 11744748 |doi=10.1113/jphysiol.2001.012691  | pmc=2278985 }}
*{{cite journal | author=Fahmi AI, Patel M, Stevens EB, ''et al.'' |title=The sodium channel beta-subunit SCN3b modulates the kinetics of SCN5a and is expressed heterogeneously in sheep heart. |journal=J. Physiol. (Lond.) |volume=537 |issue= Pt 3 |pages= 693-700 |year= 2002 |pmid= 11744748 |doi= }}
*{{cite journal   |vauthors=Malhotra JD, Koopmann MC, Kazen-Gillespie KA, etal |title=Structural requirements for interaction of sodium channel beta 1 subunits with ankyrin. |journal=J. Biol. Chem. |volume=277 |issue= 29 |pages= 26681–8 |year= 2002 |pmid= 11997395 |doi= 10.1074/jbc.M202354200 }}
*{{cite journal | author=Malhotra JD, Koopmann MC, Kazen-Gillespie KA, ''et al.'' |title=Structural requirements for interaction of sodium channel beta 1 subunits with ankyrin. |journal=J. Biol. Chem. |volume=277 |issue= 29 |pages= 26681-8 |year= 2002 |pmid= 11997395 |doi= 10.1074/jbc.M202354200 }}
*{{cite journal   |vauthors=Wallace RH, Scheffer IE, Parasivam G, etal |title=Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. |journal=Neurology |volume=58 |issue= 9 |pages= 1426–9 |year= 2002 |pmid= 12011299 |doi= 10.1212/wnl.58.9.1426}}
*{{cite journal | author=Wallace RH, Scheffer IE, Parasivam G, ''et al.'' |title=Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. |journal=Neurology |volume=58 |issue= 9 |pages= 1426-9 |year= 2002 |pmid= 12011299 |doi= }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Meadows LS, Malhotra J, Loukas A, etal |title=Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. |journal=J. Neurosci. |volume=22 |issue= 24 |pages= 10699–709 |year= 2003 |pmid= 12486163 |doi= }}
*{{cite journal | author=Meadows LS, Malhotra J, Loukas A, ''et al.'' |title=Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. |journal=J. Neurosci. |volume=22 |issue= 24 |pages= 10699-709 |year= 2003 |pmid= 12486163 |doi= }}
*{{cite journal   |vauthors=Aronica E, Troost D, Rozemuller AJ, etal |title=Expression and regulation of voltage-gated sodium channel beta1 subunit protein in human gliosis-associated pathologies. |journal=Acta Neuropathol. |volume=105 |issue= 5 |pages= 515–23 |year= 2003 |pmid= 12677453 |doi= 10.1007/s00401-003-0677-2 }}
*{{cite journal | author=Aronica E, Troost D, Rozemuller AJ, ''et al.'' |title=Expression and regulation of voltage-gated sodium channel beta1 subunit protein in human gliosis-associated pathologies. |journal=Acta Neuropathol. |volume=105 |issue= 5 |pages= 515-23 |year= 2003 |pmid= 12677453 |doi= 10.1007/s00401-003-0677-2 }}
*{{cite journal   |vauthors=Audenaert D, Claes L, Ceulemans B, etal |title=A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. |journal=Neurology |volume=61 |issue= 6 |pages= 854–6 |year= 2004 |pmid= 14504340 |doi= 10.1212/01.wnl.0000080362.55784.1c}}
*{{cite journal | author=Audenaert D, Claes L, Ceulemans B, ''et al.'' |title=A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. |journal=Neurology |volume=61 |issue= 6 |pages= 854-6 |year= 2004 |pmid= 14504340 |doi=  }}
*{{cite journal   |vauthors=Qin N, D'Andrea MR, Lubin ML, etal |title=Molecular cloning and functional expression of the human sodium channel beta1B subunit, a novel splicing variant of the beta1 subunit. |journal=Eur. J. Biochem. |volume=270 |issue= 23 |pages= 4762–70 |year= 2004 |pmid= 14622265 |doi=10.1046/j.1432-1033.2003.03878.x }}
*{{cite journal | author=Qin N, D'Andrea MR, Lubin ML, ''et al.'' |title=Molecular cloning and functional expression of the human sodium channel beta1B subunit, a novel splicing variant of the beta1 subunit. |journal=Eur. J. Biochem. |volume=270 |issue= 23 |pages= 4762-70 |year= 2004 |pmid= 14622265 |doi= }}
*{{cite journal   |vauthors=McEwen DP, Meadows LS, Chen C, etal |title=Sodium channel beta1 subunit-mediated modulation of Nav1.2 currents and cell surface density is dependent on interactions with contactin and ankyrin. |journal=J. Biol. Chem. |volume=279 |issue= 16 |pages= 16044–9 |year= 2004 |pmid= 14761957 |doi= 10.1074/jbc.M400856200 }}
*{{cite journal | author=McEwen DP, Meadows LS, Chen C, ''et al.'' |title=Sodium channel beta1 subunit-mediated modulation of Nav1.2 currents and cell surface density is dependent on interactions with contactin and ankyrin. |journal=J. Biol. Chem. |volume=279 |issue= 16 |pages= 16044-9 |year= 2004 |pmid= 14761957 |doi= 10.1074/jbc.M400856200 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal   |vauthors=Platoshyn O, Remillard CV, Fantozzi I, etal |title=Identification of functional voltage-gated Na(+) channels in cultured human pulmonary artery smooth muscle cells. |journal=Pflügers Arch. |volume=451 |issue= 2 |pages= 380–7 |year= 2006 |pmid= 16052353 |doi= 10.1007/s00424-005-1478-3  | pmc=1351366 }}
*{{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=Thomas EA, Xu R, Petrou S |title=Computational analysis of the R85C and R85H epilepsy mutations in Na+ channel beta1 subunits. |journal=Neuroscience |volume=147 |issue= 4 |pages= 1034–46 |year= 2007 |pmid= 17604911 |doi= 10.1016/j.neuroscience.2007.05.010 }}
*{{cite journal  | author=Thomas EA, Xu R, Petrou S |title=Computational analysis of the R85C and R85H epilepsy mutations in Na+ channel beta1 subunits. |journal=Neuroscience |volume=147 |issue= 4 |pages= 1034-46 |year= 2007 |pmid= 17604911 |doi= 10.1016/j.neuroscience.2007.05.010 }}
*{{cite journal   |vauthors=Xu R, Thomas EA, Gazina EV, etal |title=Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function. |journal=Neuroscience |volume=148 |issue= 1 |pages= 164–74 |year= 2007 |pmid= 17629415 |doi= 10.1016/j.neuroscience.2007.05.038 }}
*{{cite journal | author=Xu R, Thomas EA, Gazina EV, ''et al.'' |title=Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function. |journal=Neuroscience |volume=148 |issue= 1 |pages= 164-74 |year= 2007 |pmid= 17629415 |doi= 10.1016/j.neuroscience.2007.05.038 }}
}}
}}
{{refend}}
{{refend}}


== External links ==
==External links==
* [https://www.ncbi.nlm.nih.gov/books/NBK1517/  GeneReviews/NIH/NCBI/UW entry on Brugada syndrome]
* {{MeshName|SCN1B+protein,+human}}
* {{MeshName|SCN1B+protein,+human}}
{{NLM content}}
{{Ion channels|g2}}
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[[Category:Sodium channels]]


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

Latest revision as of 16:07, 29 June 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 subunit beta-1 is a protein that in humans is encoded by the SCN1B gene.[1][2]

Voltage-gated sodium channels are essential for the generation and propagation of action potentials in striated muscle and neuronal tissues. Biochemically, they consist of a large alpha subunit and 1 or 2 smaller beta subunits, such as SCN1B. The alpha subunit alone can exhibit all the functional attributes of a voltage-gated Na+ channel, but requires a beta-1 subunit for normal inactivation kinetics.[supplied by OMIM][2]

Clinical significance

Mutation in the SCN1B gene are associated with disorders such as Brugada syndrome and GEFS.

See also

References

  1. ↑ McClatchey AI, Cannon SC, Slaugenhaupt SA, Gusella JF (Sep 1993). "The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain". Hum Mol Genet. 2 (6): 745–9. doi:10.1093/hmg/2.6.745. PMID 8394762.
  2. ↑ 2.0 2.1 "Entrez Gene: SCN1B sodium channel, voltage-gated, type I, beta".

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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