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HUMAN:SCN1B
Contents
Species (Taxon ID) | Homo sapiens (Human). (9606) | |
Gene Name(s) | SCN1B | |
Protein Name(s) | Sodium channel subunit beta-1 | |
External Links | ||
UniProt | Q07699 | |
EMBL | L10338 L16242 U12193 U12189 U12190 U12191 U12192 AY391842 AK313279 DQ677665 BT019923 AC020907 BC067122 | |
CCDS | CCDS12441.1 CCDS46047.1 | |
PIR | A55734 | |
RefSeq | NP_001028.1 NP_950238.1 | |
UniGene | Hs.436646 | |
ProteinModelPortal | Q07699 | |
SMR | Q07699 | |
BioGrid | 112229 | |
STRING | 9606.ENSP00000396915 | |
DrugBank | DB00313 DB00909 | |
PhosphoSite | Q07699 | |
DMDM | 1705868 | |
PaxDb | Q07699 | |
PRIDE | Q07699 | |
DNASU | 6324 | |
Ensembl | ENST00000262631 ENST00000415950 | |
GeneID | 6324 | |
KEGG | hsa:6324 | |
UCSC | uc002nxo.2 uc002nxp.3 | |
CTD | 6324 | |
GeneCards | GC19P035521 | |
GeneReviews | SCN1B | |
HGNC | HGNC:10586 | |
MIM | 600235 604233 612838 615377 | |
neXtProt | NX_Q07699 | |
Orphanet | 130 33069 334 871 36387 | |
PharmGKB | PA302 | |
eggNOG | NOG45207 | |
GeneTree | ENSGT00390000018560 | |
HOGENOM | HOG000276881 | |
HOVERGEN | HBG056582 | |
InParanoid | Q07699 | |
KO | K04845 | |
OMA | ISCKKRS | |
OrthoDB | EOG7M3J19 | |
PhylomeDB | Q07699 | |
TreeFam | TF332097 | |
Reactome | REACT_22266 | |
GeneWiki | SCN1B | |
GenomeRNAi | 6324 | |
NextBio | 24542 | |
PMAP-CutDB | Q07699 | |
PRO | PR:Q07699 | |
Proteomes | UP000005640 | |
Bgee | Q07699 | |
CleanEx | HS_SCN1B | |
ExpressionAtlas | Q07699 | |
Genevestigator | Q07699 | |
GO | GO:0005576 GO:0014704 GO:0033268 GO:0030315 GO:0001518 GO:0019871 GO:0017080 GO:0005248 GO:0086006 GO:0086062 GO:0007411 GO:0061337 GO:0086002 GO:0060048 GO:0007155 GO:0021966 GO:0040011 GO:0051899 GO:0086012 GO:0086047 GO:0019227 GO:0010976 GO:0010765 GO:0060371 GO:0086091 GO:2000649 GO:0060307 GO:0046684 GO:0035725 GO:0007268 | |
Gene3D | 2.60.40.10 | |
InterPro | IPR013783 IPR013151 IPR027098 | |
PANTHER | PTHR10546 | |
Pfam | PF00047 |
Annotations
Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
---|---|---|---|---|---|---|---|---|---|---|
enables |
GO:0017080 |
sodium channel regulator activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0005887 |
integral component of plasma membrane |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0017080 |
sodium channel regulator activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0001518 |
voltage-gated sodium channel complex |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005887 |
integral component of plasma membrane |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0001518 |
voltage-gated sodium channel complex |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:2000649 |
regulation of sodium ion transmembrane transporter activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
has_input:(UniProtKB:Q14524) |
Seeded From UniProt |
complete | ||
involved_in |
GO:0086091 |
regulation of heart rate by cardiac conduction |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0086062 |
voltage-gated sodium channel activity involved in Purkinje myocyte action potential |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0086047 |
membrane depolarization during Purkinje myocyte cell action potential |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0086012 |
membrane depolarization during cardiac muscle cell action potential |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0086006 |
voltage-gated sodium channel activity involved in cardiac muscle cell action potential |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0086002 |
cardiac muscle cell action potential involved in contraction |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0061337 |
cardiac conduction |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0060371 |
regulation of atrial cardiac muscle cell membrane depolarization |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0060371 |
regulation of atrial cardiac muscle cell membrane depolarization |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0060307 |
regulation of ventricular cardiac muscle cell membrane repolarization |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0060048 |
cardiac muscle contraction |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0051899 |
membrane depolarization |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0040011 |
locomotion |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0035725 |
sodium ion transmembrane transport |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0035725 |
sodium ion transmembrane transport |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0035725 |
sodium ion transmembrane transport |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0033268 |
node of Ranvier |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0030315 |
T-tubule |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
part_of:(CL:0000746) |
Seeded From UniProt |
complete | ||
involved_in |
GO:0021966 |
corticospinal neuron axon guidance |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0019871 |
sodium channel inhibitor activity |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0019227 |
neuronal action potential propagation |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0017080 |
sodium channel regulator activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
has_direct_input:(UniProtKB:Q14524) |
Seeded From UniProt |
complete | ||
enables |
GO:0017080 |
sodium channel regulator activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
has_direct_input:(UniProtKB:Q14524) |
Seeded From UniProt |
complete | ||
part_of |
GO:0014704 |
intercalated disc |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
part_of:(CL:0000746) |
Seeded From UniProt |
complete | ||
involved_in |
GO:0010976 |
positive regulation of neuron projection development |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
occurs_in:(CL:0001031) |
Seeded From UniProt |
complete | ||
involved_in |
GO:0010765 |
positive regulation of sodium ion transport |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0007411 |
axon guidance |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0005248 |
voltage-gated sodium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0001518 |
voltage-gated sodium channel complex |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0001518 |
voltage-gated sodium channel complex |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:2000649 |
regulation of sodium ion transmembrane transporter activity |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN002237886 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0086091 |
regulation of heart rate by cardiac conduction |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000057590 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0086002 |
cardiac muscle cell action potential involved in contraction |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000057590 |
P |
Seeded From UniProt |
complete | ||
enables |
GO:0044325 |
ion channel binding |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:1918882 |
F |
Seeded From UniProt |
complete | ||
enables |
GO:0019871 |
sodium channel inhibitor activity |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:98247 |
F |
Seeded From UniProt |
complete | ||
part_of |
GO:0001518 |
voltage-gated sodium channel complex |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN002237886 |
C |
Seeded From UniProt |
complete | ||
involved_in |
GO:0086012 |
membrane depolarization during cardiac muscle cell action potential |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97952 |
P |
Seeded From UniProt |
complete | ||
enables |
GO:0086006 |
voltage-gated sodium channel activity involved in cardiac muscle cell action potential |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97952 |
F |
Seeded From UniProt |
complete | ||
involved_in |
GO:0061337 |
cardiac conduction |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97952 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0060307 |
regulation of ventricular cardiac muscle cell membrane repolarization |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97952 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0040011 |
locomotion |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97952 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0035725 |
sodium ion transmembrane transport |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97952 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0034706 |
sodium channel complex |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97952 |
C |
Seeded From UniProt |
complete | ||
part_of |
GO:0033268 |
node of Ranvier |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97952 |
C |
Seeded From UniProt |
complete | ||
part_of |
GO:0030315 |
T-tubule |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97952 |
C |
Seeded From UniProt |
complete | ||
involved_in |
GO:0021966 |
corticospinal neuron axon guidance |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97952 |
P |
Seeded From UniProt |
complete | ||
enables |
GO:0019871 |
sodium channel inhibitor activity |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97952 |
F |
Seeded From UniProt |
complete | ||
involved_in |
GO:0019227 |
neuronal action potential propagation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97952 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0014704 |
intercalated disc |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97952 |
C |
Seeded From UniProt |
complete | ||
involved_in |
GO:0010976 |
positive regulation of neuron projection development |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97952 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0007411 |
axon guidance |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97952 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:1905150 |
regulation of voltage-gated sodium channel activity |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q00954 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0046684 |
response to pyrethroid |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q00954 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0033268 |
node of Ranvier |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q00954 |
C |
Seeded From UniProt |
complete | ||
enables |
GO:0017080 |
sodium channel regulator activity |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q00954 |
F |
Seeded From UniProt |
complete | ||
part_of |
GO:0005887 |
integral component of plasma membrane |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q00954 |
C |
Seeded From UniProt |
complete | ||
involved_in |
GO:0002028 |
regulation of sodium ion transport |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q00954 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0001518 |
voltage-gated sodium channel complex |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q00954 |
C |
Seeded From UniProt |
complete | ||
part_of |
GO:0001518 |
voltage-gated sodium channel complex |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006814 |
sodium ion transport |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0017080 |
sodium channel regulator activity |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0017080 |
sodium channel regulator activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
NOT|enables |
GO:0017080 |
sodium channel regulator activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0035725 |
sodium ion transmembrane transport |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0005248 |
voltage-gated sodium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0061337 |
cardiac conduction |
Reactome:R-HSA-5576892 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0005886 |
plasma membrane |
Reactome:R-HSA-5576895 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
C |
Seeded From UniProt |
complete | ||
involved_in |
GO:0034765 |
regulation of ion transmembrane transport |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006814 |
sodium ion transport |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0042995 |
cell projection |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0016021 |
integral component of membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005886 |
plasma membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005576 |
extracellular region |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0016020 |
membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0005244 |
voltage-gated ion channel activity |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0005272 |
sodium channel activity |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006811 |
ion transport |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0007155 |
cell adhesion |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0043204 |
perikaryon |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0030424 |
axon |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 Patino, GA et al. (2009) A functional null mutation of SCN1B in a patient with Dravet syndrome. J. Neurosci. 29 10764-78 PubMed GONUTS page
- ↑ 2.0 2.1 Makita, N et 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 7571-8 PubMed GONUTS page
- ↑ 3.0 3.1 Pan, X et al. (2018) Structure of the human voltage-gated sodium channel Na1.4 in complex with β1. Science 362 PubMed GONUTS page
- ↑ 4.00 4.01 4.02 4.03 4.04 4.05 4.06 4.07 4.08 4.09 4.10 Watanabe, H et al. (2009) Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. Circ Arrhythm Electrophysiol 2 268-75 PubMed GONUTS page
- ↑ 5.0 5.1 5.2 5.3 Watanabe, H et al. (2008) Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J. Clin. Invest. 118 2260-8 PubMed GONUTS page
- ↑ 6.0 6.1 6.2 Lopez-Santiago, LF et al. (2007) Sodium channel Scn1b null mice exhibit prolonged QT and RR intervals. J. Mol. Cell. Cardiol. 43 636-47 PubMed GONUTS page
- ↑ Makita, N et al. (2012) A connexin40 mutation associated with a malignant variant of progressive familial heart block type I. Circ Arrhythm Electrophysiol 5 163-72 PubMed GONUTS page
- ↑ 8.0 8.1 8.2 Olesen, MS et al. (2011) Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation. Cardiovasc. Res. 89 786-93 PubMed GONUTS page
- ↑ 9.0 9.1 9.2 9.3 9.4 9.5 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
- ↑ 10.0 10.1 10.2 10.3 Qin, N et al. (2003) Molecular cloning and functional expression of the human sodium channel beta1B subunit, a novel splicing variant of the beta1 subunit. Eur. J. Biochem. 270 4762-70 PubMed GONUTS page
c
- GO:0061337 ! cardiac conduction
- Cardiac Conduction SCNs
- GO:0086002 ! cardiac muscle cell action potential involved in contraction
- GO:0060048 ! cardiac muscle contraction
- Catarrhini
- GO:0007155 ! cell adhesion
- GO:0042995 ! cell projection
- Chordata
- GO:0021966 ! corticospinal neuron axon guidance
- Craniata
i
m
p
r
- GO:0060371 ! regulation of atrial cardiac muscle cell membrane depolarization
- GO:0034765 ! regulation of monoatomic ion transmembrane transport
- GO:0060307 ! regulation of ventricular cardiac muscle cell membrane repolarization
- GO:0002028 ! regulation of sodium ion transport
- GO:1905150 ! regulation of voltage-gated sodium channel activity
- GO:0086091 ! regulation of heart rate by cardiac conduction
- GO:2000649 ! regulation of sodium ion transmembrane transporter activity
- GO:0046684 ! response to pyrethroid
s
v
- Vertebrata
- GO:0005244 ! voltage-gated monoatomic ion channel activity
- GO:0005248 ! voltage-gated sodium channel activity
- GO:0086006 ! voltage-gated sodium channel activity involved in cardiac muscle cell action potential
- GO:0086062 ! voltage-gated sodium channel activity involved in Purkinje myocyte action potential
- GO:0001518 ! voltage-gated sodium channel complex