Human Metabolome Database: Showing Protein Sodium channel subunit beta-1 (HMDBP09079)

Identification Biological properties Gene properties Protein properties External links References XML Show 2 metabolites

Identification
HMDB Protein ID	HMDBP09079
Secondary Accession Numbers	14823
Name	Sodium channel subunit beta-1
Synonyms	Not Available
Gene Name	SCN1B
Protein Type	Unknown
Biological Properties
General Function	Involved in voltage-gated sodium channel activity
Specific Function	Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-1 can modulate multiple alpha subunit isoforms from brain, skeletal muscle, and heart. Its association with neurofascin may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons
Pathways	3-Methylthiofentanyl Action Pathway Alfentanil Action Pathway Alvimopan Action Pathway Anileridine Action Pathway Benzocaine Action Pathway Bupivacaine Action Pathway Buprenorphine Action Pathway Carfentanil Action Pathway Chloroprocaine Action Pathway Citalopram Action Pathway Cocaine Action Pathway Codeine Action Pathway Desipramine Action Pathway Dezocine Action Pathway Dibucaine Action Pathway Dihydromorphine Action Pathway Dimethylthiambutene Action Pathway Diphenoxylate Action Pathway Escitalopram Action Pathway Ethylmorphine Action Pathway Fentanyl Action Pathway Fluoxetine Action Pathway Heroin Action Pathway Hydrocodone Action Pathway Hydromorphone Action Pathway Imipramine Action Pathway Ketobemidone Action Pathway Levallorphan Action Pathway Levobupivacaine Action Pathway Levomethadyl Acetate Action Action Pathway Levorphanol Action Pathway Lidocaine (Local Anaesthetic) Action Pathway Lidocaine (Local Anaesthetic) Metabolism Pathway Mepivacaine Action Pathway Methadone Action Pathway Methadyl Acetate Action Pathway Morphine Action Pathway Nalbuphine Action Pathway Naloxone Action Pathway Naltrexone Action Pathway Nicotine Action Pathway Oxybuprocaine Action Pathway Oxycodone Action Pathway Oxymorphone Action Pathway Pentazocine Action Pathway Prilocaine Action Pathway Procaine Action Pathway Proparacaine Action Pathway Propoxyphene Action Pathway Remifentanil Action Pathway Ropivacaine Action Pathway Sufentanil Action Pathway Tramadol Action Action Pathway
Reactions	Not Available
GO Classification	Not Available
Cellular Location	Membrane Single-pass type I membrane protein
Gene Properties
Chromosome Location	Chromosome:1
Locus	19q13.1
SNPs	SCN1B
Gene Sequence	>657 bp ATGGGGAGGCTGCTGGCCTTAGTGGTCGGCGCGGCACTGGTGTCCTCAGCCTGCGGGGGC TGCGTGGAGGTGGACTCGGAGACCGAGGCCGTGTATGGGATGACCTTCAAAATTCTTTGC ATCTCCTGCAAGCGCCGCAGCGAGACCAACGCTGAGACCTTCACCGAGTGGACCTTCCGC CAGAAGGGCACTGAGGAGTTTGTCAAGATCCTGCGCTATGAGAATGAGGTGTTGCAGCTG GAGGAGGATGAGCGCTTCGAGGGCCGCGTGGTGTGGAATGGCAGCCGGGGCACCAAAGAC CTGCAGGATCTGTCTATCTTCATCACCAATGTCACCTACAACCACTCGGGCGACTACGAG TGCCACGTCTACCGCCTGCTCTTCTTCGAAAACTACGAGCACAACACCAGCGTCGTCAAG AAGATCCACATTGAGGTAGTGGACAAAGCCAACAGAGACATGGCATCCATCGTGTCTGAG ATCATGATGTATGTGCTCATTGTGGTGTTGACCATATGGCTCGTGGCAGAGATGATTTAC TGCTACAAGAAGATCGCTGCCGCCACGGAGACTGCTGCACAGGAGAATGCCTCGGAATAC CTGGCCATCACCTCTGAGAGCAAAGAGAACTGCACGGGCGTCCAGGTGGCCGAATAG
Protein Properties
Number of Residues	218
Molecular Weight	24707.0
Theoretical pI	4.56
Pfam Domain Function	ig (PF00047 )
Signals	1-18
Transmembrane Regions	161-182
Protein Sequence	>Sodium channel subunit beta-1 MGRLLALVVGAALVSSACGGCVEVDSETEAVYGMTFKILCISCKRRSETNAETFTEWTFR QKGTEEFVKILRYENEVLQLEEDERFEGRVVWNGSRGTKDLQDLSIFITNVTYNHSGDYE CHVYRLLFFENYEHNTSVVKKIHIEVVDKANRDMASIVSEIMMYVLIVVLTIWLVAEMIY CYKKIAAATETAAQENASEYLAITSESKENCTGVQVAE
External Links
GenBank ID Protein	307415
UniProtKB/Swiss-Prot ID	Q07699
UniProtKB/Swiss-Prot Entry Name	SCN1B_HUMAN
PDB IDs	Not Available
GenBank Gene ID	L10338
GeneCard ID	SCN1B
GenAtlas ID	SCN1B
HGNC ID	HGNC:10586
References
General References	Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ] McClatchey AI, Cannon SC, Slaugenhaupt SA, Gusella JF: The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain. Hum Mol Genet. 1993 Jun;2(6):745-9. [PubMed:8394762 ] Makita N, Bennett PB Jr, George AL Jr: 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. 1994 Mar 11;269(10):7571-8. [PubMed:8125980 ] Makita N, Sloan-Brown K, Weghuis DO, Ropers HH, George AL Jr: Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B). Genomics. 1994 Oct;23(3):628-34. [PubMed:7851891 ] Watanabe H, Koopmann TT, Le Scouarnec S, Yang T, Ingram CR, Schott JJ, Demolombe S, Probst V, Anselme F, Escande D, Wiesfeld AC, Pfeufer A, Kaab S, Wichmann HE, Hasdemir C, Aizawa Y, Wilde AA, Roden DM, Bezzina CR: Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest. 2008 Jun;118(6):2260-8. doi: 10.1172/JCI33891. [PubMed:18464934 ] Wallace RH, Wang DW, Singh R, Scheffer IE, George AL Jr, Phillips HA, Saar K, Reis A, Johnson EW, Sutherland GR, Berkovic SF, Mulley JC: Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet. 1998 Aug;19(4):366-70. [PubMed:9697698 ] Orrico A, Galli L, Grosso S, Buoni S, Pianigiani R, Balestri P, Sorrentino V: Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. Clin Genet. 2009 Jun;75(6):579-81. [PubMed:19522081 ]