KEGG   Homo sapiens (human): 6324
Entry
6324              CDS       T01001                                 
Symbol
SCN1B, ATFB13, BRGDA5, DEE52, EIEE52, GEFSP1
Name
(RefSeq) sodium voltage-gated channel beta subunit 1
  KO
K04845  voltage-gated sodium channel type I beta
Organism
hsa  Homo sapiens (human)
Pathway
hsa04261  Adrenergic signaling in cardiomyocytes
Disease
H00606  Early infantile epileptic encephalopathy
H00728  Brugada syndrome
H00731  Atrial fibrillation
H02564  Generalized epilepsy with febrile seizures plus
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09153 Circulatory system
   04261 Adrenergic signaling in cardiomyocytes
    6324 (SCN1B)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    6324 (SCN1B)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Sodium channel, voltage-gated (Nav)
   6324 (SCN1B)
SSDB
Motif
Pfam: V-set Ig_3 ig DUF5326 Ig_2 Protocadherin
Other DBs
NCBI-GeneID: 6324
NCBI-ProteinID: NP_001028
OMIM: 600235
HGNC: 10586
Ensembl: ENSG00000105711
UniProt: Q07699
Structure
Position
19:35030470..35040449
AA seq 218 aa
MGRLLALVVGAALVSSACGGCVEVDSETEAVYGMTFKILCISCKRRSETNAETFTEWTFR
QKGTEEFVKILRYENEVLQLEEDERFEGRVVWNGSRGTKDLQDLSIFITNVTYNHSGDYE
CHVYRLLFFENYEHNTSVVKKIHIEVVDKANRDMASIVSEIMMYVLIVVLTIWLVAEMIY
CYKKIAAATETAAQENASEYLAITSESKENCTGVQVAE
NT seq 657 nt   +upstreamnt  +downstreamnt
atggggaggctgctggccttagtggtcggcgcggcactggtgtcctcagcctgcgggggc
tgcgtggaggtggactcggagaccgaggccgtgtatgggatgaccttcaaaattctttgc
atctcctgcaagcgccgcagcgagaccaacgctgagaccttcaccgagtggaccttccgc
cagaagggcactgaggagtttgtcaagatcctgcgctatgagaatgaggtgttgcagctg
gaggaggatgagcgcttcgagggccgcgtggtgtggaatggcagccggggcaccaaagac
ctgcaggatctgtctatcttcatcaccaatgtcacctacaaccactcgggcgactacgag
tgccacgtctaccgcctgctcttcttcgaaaactacgagcacaacaccagcgtcgtcaag
aagatccacattgaggtagtggacaaagccaacagagacatggcatccatcgtgtctgag
atcatgatgtatgtgctcattgtggtgttgaccatatggctcgtggcagagatgatttac
tgctacaagaagatcgctgccgccacggagactgctgcacaggagaatgcctcggaatac
ctggccatcacctctgaaagcaaagagaactgcacgggcgtccaggtggccgaatag

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