SCNN1B

SCNN1B
Identifikatori
Aliasi	SCNN1B
Vanjski ID-jevi	OMIM: 600760 MGI: 104696 HomoloGene: 133555 GeneCards: SCNN1B
Lokacija gena (čovjek)
Hrom.	Hromosom 16 (čovjek)
Kraj	23,381,294 bp
Lokacija gena (miš)
Hrom.	Hromosom 7 (miš)
Kraj	121,517,737 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• sodium channel activity; • GO:0001948, GO:0016582 vezivanje za proteine; • WW domain binding; • ligand-gated sodium channel activity;
Ćelijska komponenta	• integral component of membrane; • membrana; • sodium channel complex; • ćelijska membrana; • integral component of plasma membrane; • apical plasma membrane; • Egzosom; • cytoplasmic vesicle membrane; • external side of plasma membrane; • GO:0016023 citoplazmatska vezikula;
Biološki proces	• izlučivanje; • sodium ion transmembrane transport; • response to stimulus; • sodium ion transport; • ion transport; • sodium ion homeostasis; • multicellular organismal water homeostasis; • sensory perception of taste; • ion transmembrane transport;
	Izvori:Amigo / QuickGO
Ortolozi
	6338
	20277
	ENSG00000168447
	ENSMUSG00000030873
	P51168
	Q9WU38
	NM_000336
	NM_001272023; NM_011325
	NP_000327
	NP_001258952; NP_035455
	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[uredi | uredi izvor]

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[uredi | uredi izvor]

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

Klinički značaj[uredi | uredi izvor]

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

Također pogledajte[uredi | uredi izvor]

Natrijski kanal

Reference[uredi | uredi izvor]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000168447 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000030873 - 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[uredi | uredi izvor]

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[uredi | uredi izvor]

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: ENSG00000168447 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000030873 - 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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