SCN1B

SCN1B
Identifikatori
Aliasi	SCN1B
Vanjski ID-jevi	OMIM: 600235 MGI: 98247 HomoloGene: 810 GeneCards: SCN1B
Lokacija gena (čovjek)
Hrom.	Hromosom 19 (čovjek)
Kraj	35,040,449 bp
Lokacija gena (miš)
Hrom.	Hromosom 7 (miš)
Kraj	30,826,428 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• sodium channel activity; • voltage-gated ion channel activity; • voltage-gated sodium channel activity involved in Purkinje myocyte action potential; • voltage-gated sodium channel activity involved in cardiac muscle cell action potential; • voltage-gated sodium channel activity; • sodium channel regulator activity; • sodium channel inhibitor activity; • GO:0001948, GO:0016582 vezivanje za proteine; • transmembrane transporter binding;
Ćelijska komponenta	• integral component of membrane; • membrana; • sodium channel complex; • extracellular region; • voltage-gated sodium channel complex; • Ranvijerov čvor; • Interkalirani disk; • T-tubule; • ćelijska membrana;
Biološki proces	• membrane depolarization during Purkinje myocyte cell action potential; • cardiac muscle contraction; • regulation of sodium ion transport; • sodium ion transport; • regulation of atrial cardiac muscle cell membrane depolarization; • membrane depolarization; • regulation of ion transmembrane transport; • cardiac muscle cell action potential involved in contraction; • ion transport; • Ćelijska adhezija; • regulation of sodium ion transmembrane transporter activity; • GO:0061423 positive regulation of sodium ion transport; • response to pyrethroid; • regulation of heart rate by cardiac conduction; • chemical synaptic transmission; • corticospinal neuron axon guidance; • neuronal action potential propagation; • axon guidance; • cardiac conduction; • regulation of ventricular cardiac muscle cell membrane repolarization; • sodium ion transmembrane transport; • locomotion; • positive regulation of neuron projection development; • membrane depolarization during cardiac muscle cell action potential;
	Izvori:Amigo / QuickGO
Ortolozi
	6324
	20266
	ENSG00000105711
	ENSMUSG00000019194
	Q07699
	P97952
	NM_001037; NM_199037; NM_001321605
	NM_011322
	NP_001028; NP_001308534; NP_950238
	NP_035452; NP_001389263
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Podjedinica beta-1 natrijevog kanala jest protein koji je kod ljudi kodiran genom SCN1B sa hromosoma 19.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 218 aminokiselina, a molekulska težina 24.707 Da.^[6]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MGRLLALVVG	AALVSSACGG	CVEVDSETEA	VYGMTFKILC	ISCKRRSETN
AETFTEWTFR	QKGTEEFVKI	LRYENEVLQL	EEDERFEGRV	VWNGSRGTKD
LQDLSIFITN	VTYNHSGDYE	CHVYRLLFFE	NYEHNTSVVK	KIHIEVVDKA
NRDMASIVSE	IMMYVLIVVL	TIWLVAEMIY	CYKKIAAATE	TAAQENASEY
LAITSESKEN	CTGVQVAE

Funkcija

Naponski vođeni natrijski kanali su neophodni za stvaranje i širenje akcijskih potencijala u prugasto-prugastim mišićima i neuronskim tkivima. Biohemijski, sastoje se od velike alfa podjedinice i 1 ili 2 manje beta podjedinice, kao što je SCN1B. Sama podjedinica alfa može pokazati sve funkcionalne atribute naponski vođenog Na+ kanala, ali joj je potrebna beta-1 podjedinica za normalnu kinetiku inaktivacije (prema OMIM^[6]

Klinički značaj

Mutacije u genu SCN1B povezane su s poremećajima kao što su Brugadaov sindrom, Dravetov sindrom i GEFS.

Također pogledajte

Natrijski kanal

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000105711 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000019194 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b ^c "Entrez Gene: SCN1B sodium channel, voltage-gated, type I, beta".

Dopunska literatura

Hartshorne RP, Catterall WA (1984). "The sodium channel from rat brain. Purification and subunit composition". J. Biol. Chem. 259 (3): 1667–75. doi:10.1016/S0021-9258(17)43460-0. PMID 6319405.
Makita N, Sloan-Brown K, Weghuis DO, et al. (1995). "Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B)". Genomics. 23 (3): 628–34. doi:10.1006/geno.1994.1551. PMID 7851891.
Makita N, Bennett PB, George AL (1994). "Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene". J. Biol. Chem. 269 (10): 7571–8. doi:10.1016/S0021-9258(17)37325-8. PMID 8125980.
Wallace RH, Wang DW, Singh R, et al. (1998). "Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B". Nat. Genet. 19 (4): 366–70. doi:10.1038/1252. PMID 9697698. S2CID 20962841.
Ratcliffe CF, Westenbroek RE, Curtis R, Catterall WA (2001). "Sodium channel beta1 and beta3 subunits associate with neurofascin through their extracellular immunoglobulin-like domain". J. Cell Biol. 154 (2): 427–34. doi:10.1083/jcb.200102086. PMC 2150779. PMID 11470829.
Fahmi AI, Patel M, Stevens EB, et al. (2002). "The sodium channel beta-subunit SCN3b modulates the kinetics of SCN5a and is expressed heterogeneously in sheep heart". J. Physiol. 537 (Pt 3): 693–700. doi:10.1113/jphysiol.2001.012691. PMC 2278985. PMID 11744748.
Malhotra JD, Koopmann MC, Kazen-Gillespie KA, et al. (2002). "Structural requirements for interaction of sodium channel beta 1 subunits with ankyrin". J. Biol. Chem. 277 (29): 26681–8. doi:10.1074/jbc.M202354200. PMID 11997395.
Wallace RH, Scheffer IE, Parasivam G, et al. (2002). "Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B". Neurology. 58 (9): 1426–9. doi:10.1212/wnl.58.9.1426. PMID 12011299. S2CID 9403148.
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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Meadows LS, Malhotra J, Loukas A, et al. (2003). "Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1". J. Neurosci. 22 (24): 10699–709. doi:10.1523/JNEUROSCI.22-24-10699.2002. PMC 6758463. PMID 12486163.
Aronica E, Troost D, Rozemuller AJ, et al. (2003). "Expression and regulation of voltage-gated sodium channel beta1 subunit protein in human gliosis-associated pathologies". Acta Neuropathol. 105 (5): 515–23. doi:10.1007/s00401-003-0677-2. hdl:2027.42/42208. PMID 12677453. S2CID 30847819.
Audenaert D, Claes L, Ceulemans B, et al. (2004). "A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy". Neurology. 61 (6): 854–6. doi:10.1212/01.wnl.0000080362.55784.1c. PMID 14504340. S2CID 20308172.
Qin N, D'Andrea MR, Lubin ML, et al. (2004). "Molecular cloning and functional expression of the human sodium channel beta1B subunit, a novel splicing variant of the beta1 subunit". Eur. J. Biochem. 270 (23): 4762–70. doi:10.1046/j.1432-1033.2003.03878.x. PMID 14622265.
McEwen DP, Meadows LS, Chen C, et al. (2004). "Sodium channel beta1 subunit-mediated modulation of Nav1.2 currents and cell surface density is dependent on interactions with contactin and ankyrin". J. Biol. Chem. 279 (16): 16044–9. doi:10.1074/jbc.M400856200. PMID 14761957.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Platoshyn O, Remillard CV, Fantozzi I, et al. (2006). "Identification of functional voltage-gated Na(+) channels in cultured human pulmonary artery smooth muscle cells". Pflügers Arch. 451 (2): 380–7. doi:10.1007/s00424-005-1478-3. PMC 1351366. PMID 16052353.
Thomas EA, Xu R, Petrou S (2007). "Computational analysis of the R85C and R85H epilepsy mutations in Na+ channel beta1 subunits". Neuroscience. 147 (4): 1034–46. doi:10.1016/j.neuroscience.2007.05.010. PMID 17604911. S2CID 24583074.
Xu R, Thomas EA, Gazina EV, et al. (2007). "Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function". Neuroscience. 148 (1): 164–74. doi:10.1016/j.neuroscience.2007.05.038. PMID 17629415. S2CID 36136731.

Vanjski linkovi

GeneReviews/NIH/NCBI/UW entry on Brugada syndrome
SCN1B protein, human na US National Library of Medicine Medical Subject Headings (MeSH)

Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000105711 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000019194 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8394762-5] 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.

[entrez-6] "Entrez Gene: SCN1B sodium channel, voltage-gated, type I, beta".

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