| URN | urn:agi-llid:1221 |
|---|---|
| Connectivity | 114 |
| Name | Scn5a |
| Description | sodium channel, voltage-gated, type V, alpha subunit |
| Notes | The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq] |
| Pathway | calcium/calmodulin dependent kinase 2 signaling pathway |
|---|---|
| calcium-calmodulin dependent kinase 2 signaling pathway |
| GO Molecular Function | sodium ion binding |
|---|---|
| ion channel activity | |
| voltage-gated ion channel activity | |
| sodium channel activity | |
| voltage-gated sodium channel activity |
| GO Cellular Component | membrane |
|---|---|
| plasma membrane | |
| T-tubule | |
| voltage-gated sodium channel complex | |
| integral to membrane | |
| intercalated disc | |
| sarcolemma |
| GO Biological Process | transmembrane transport |
|---|---|
| transport | |
| regulation of heart contraction | |
| muscle contraction | |
| blood circulation | |
| ion transport | |
| sodium ion transport |
| Ariadne Ontology | Voltage-gated Na+ influx |
|---|
| Group | Voltage-gated Na+ influx |
|---|---|
| transmembrane transport | |
| transport | |
| regulation of heart contraction | |
| muscle contraction | |
| blood circulation | |
| ion transport | |
| sodium ion transport | |
| sodium ion binding | |
| ion channel activity | |
| voltage-gated ion channel activity | |
| sodium channel activity | |
| voltage-gated sodium channel activity | |
| membrane | |
| plasma membrane | |
| T-tubule | |
| voltage-gated sodium channel complex | |
| integral to membrane | |
| intercalated disc | |
| sarcolemma |
| MedScan ID | 1221 |
|---|
| Hugo ID | 10593 |
|---|
| Human chromosome position | 3p21 |
|---|
| LocusLink ID | 1221 |
|---|---|
| 6331 | |
| 20271 | |
| 25665 |
| Alias | HB1 |
|---|---|
| HB2 | |
| HH1 | |
| IVF | |
| VF1 | |
| HBBD | |
| ICCD | |
| LQT3 | |
| SSS1 | |
| CDCD2 | |
| CMD1E | |
| CMPD2 | |
| PFHB1 | |
| Nav1.5 | |
| sodium channel protein type 5 subunit alpha | |
| OTTHUMP00000209279 | |
| OTTHUMP00000209280 | |
| OTTHUMP00000209281 | |
| OTTHUMP00000209282 | |
| OTTHUMP00000209283 | |
| OTTHUMP00000209284 | |
| cardiac sodium channel alpha subunit | |
| sodium channel protein type V alpha subunit | |
| sodium channel protein type V subunit alpha | |
| voltage-gated sodium channel subunit alpha Nav1.5 | |
| sodium channel protein cardiac muscle subunit alpha | |
| cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit | |
| mH1 | |
| SkM1 | |
| Nav1.5c | |
| OTTMUSP00000042030 | |
| OTTMUSP00000042031 | |
| sodium channel voltage-gated type V alpha polypeptide | |
| sodium channel, voltage-gated, type V, alpha polypeptide | |
| SCAL | |
| voltage-gated sodium channel Nav1.5c | |
| sodium channel, voltage-gated, type 5, alpha subunit | |
| sodium channel, voltage-gated, type V, alpha subunit | |
| cardiomyopathy, dilated 1E | |
| cardiomyopathy, dilated 1E (autosomal dominant) | |
| HH1 channel | |
| LOC652341 | |
| Na(V)1.5 | |
| SCN5A | |
| Sodium channel protein, cardiac muscle alpha-subunit | |
| sodium channel, voltage-gated, type V, alpha | |
| sodium channel, voltage-gated, type V, alpha (long QT syndrome 3) | |
| sodium channel, voltage-gated, type v, alpha polypeptide (long | |
| sodium channel, voltage-gated, type V, alpha polypeptide (long (electrocard | |
| voltage-gated sodium channel type 5 | |
| voltage-gated sodium channel type V | |
| voltage-gated sodium channel type V alpha |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 600163 |
|---|---|
| 601144 | |
| 601154 | |
| 113900 | |
| 603830 | |
| 608567 | |
| 272120 | |
| 603829 |
| Mouse chromosome position | 9 70.0 cM |
|---|
| GO ID | 0005272 |
|---|---|
| 0005244 | |
| 0005248 | |
| 0008015 | |
| 0006811 | |
| 0006936 | |
| 0008016 | |
| 0006814 | |
| 0055085 | |
| 0016021 | |
| 0016020 | |
| 0042383 | |
| 0001518 | |
| 0005216 | |
| 0006810 | |
| 0030315 | |
| 0014704 | |
| 0005886 | |
| 0031402 |
| Rat chromosome position | 8q32 |
|---|
| Swiss-Prot Accession | Q14524 |
|---|---|
| Q86V90 | |
| Q59H93 | |
| Q2QFB5 | |
| Q8WTQ6 | |
| Q8WTS0 | |
| Q8WWN5 | |
| Q8WWN6 | |
| Q9JJV9 | |
| Q6EWG3 | |
| Q6EWG4 | |
| Q8C3I3 | |
| P15389 | |
| Q6EWG5 | |
| Q3UH91 | |
| A5H1P8 | |
| A6N922 | |
| A6N923 | |
| B2RTU0 | |
| Q75RX9 | |
| Q75RY0 | |
| Q86UR3 | |
| Q8IZC9 | |
| Q96J69 | |
| Q925G6 |
| PIR ID | A38195 |
|---|---|
| A33996 |
| Unigene ID | Hs.517898 |
|---|---|
| Mm.103584 | |
| Rn.32074 |
| KEGG ID | hsa:6331 |
|---|---|
| mmu:20271 | |
| rno:25665 |
| Swiss-Prot ID | SCN5A_MOUSE |
|---|---|
| SCN5A_HUMAN | |
| SCN5A_RAT | |
| Q86V90_HUMAN | |
| Q59H93_HUMAN | |
| Q75RY0_HUMAN | |
| Q86UR3_HUMAN | |
| Q8IZC9_HUMAN | |
| Q3UH91_MOUSE |
| Cell Localization | Membrane |
|---|---|
| Plasma membrane |
| IPI ID | IPI00624932 |
|---|---|
| IPI00894690 | |
| IPI00031422 | |
| IPI00377006 | |
| IPI00791220 | |
| IPI00896549 | |
| IPI00930104 | |
| IPI00930507 | |
| IPI00231550 | |
| IPI00930911 | |
| IPI00924739 | |
| IPI00852639 | |
| IPI00103378 | |
| IPI00894618 | |
| IPI00565433 |
| Homologene ID | 22738 |
|---|
| RGD ID | 3637 |
|---|
| MGI ID | 98251 |
|---|