| Gene Symbol |
SCN5A
|
| Entrez Gene |
6331
|
| Alt Symbol |
CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
sodium channel, voltage gated, type V alpha subunit
|
| Other Description |
cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit|sodium channel protein cardiac muscle subunit alpha|sodium channel protein type 5 subunit alpha|sodium channel, voltage-gated, type V, alpha subunit|voltage-gated sodium channel subunit alpha Nav1.5
|
| Swissprots |
E7ET19 B2RTU0 A6N922 Q75RX9 E9PEK2 Q8IZC9 Q86UR3 Q14524 A6N923 Q59H93 Q96J69 Q75RY0 E9PFW7 E9PEF3 A5H1P8
|
| Accessions |
AAZ06802 ABN05288 ABO31246 ABQ01244 ADC96632 EAW64540 EAW64541 EAW64542 Q14524 AB158469 BAD12084 AB158470 BAD12085 AB208866 BAD92103 AF482988 AAO91669 AJ310886 CAC84529 AJ310887 CAC84530 AJ310888 CAC84531 AJ310889 CAC84532 AJ310890 CAC84533 AJ310891 CAC84534 AJ310892 CAC84535 AJ310893 CAC84525 AJ310894 AJ310895 AJ310896 CAC84536 AY038064 AAK74065 AY148488 AAN61120 BC051374 AAH51374 BC140813 AAI40814 BC144621 AAI44622 BU845010 EF092292 ABN50061 EF092293 ABN50062 EF092294 ABN50063 EF092295 ABN50064 EF629346 ABR15763 EF629347 ABR15764 GU014840 ACX32327 GU447319 GU447320 KC858891 AGR66220 M77235 AAA58644 XM_006713282 XP_006713345 XM_011533991 XP_011532293 XM_011533992 XP_011532294 NM_000335 NP_000326 NM_001099404 NP_001092874 NM_001099405 NP_001092875 NM_001160160 NP_001153632 NM_001160161 NP_001153633 NM_198056 NP_932173
|
| Function |
This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant Na(+) channel isoform. This channel is responsible for the initial upstroke of the action potential. Channel inactivation is regulated by intracellular calcium levels. {ECO:0000269|PubMed:19074138}.
|
| Subcellular Location |
Membrane {ECO:0000269|PubMed:19074138}; Multi-pass membrane protein {ECO:0000269|PubMed:19074138}.
|
| Tissue Specificity |
Found in jejunal circular smooth muscle cells (at protein level). Expressed in human atrial and ventricular cardiac muscle but not in adult skeletal muscle, brain, myometrium, liver, or spleen. Isoform 4 is expressed in brain. {ECO:0000269|PubMed:12358675}.
|
| Top Pathways |
Adrenergic signaling in cardiomyocytes
|