| Gene Information | |
|---|---|
| Gene Name | SCN1B |
| Organism | Homo sapiens (Human) |
| Gene Length | 218 |
| Protein Names | Sodium channel subunit beta-1 |
| Target Name | sodium channel subunit beta-1 |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000105711 ) |
| Evolutionary Stage | Vertebrata |
| AlphaFoldDB | Q07699 |
| Gene Card | SCN1B |
| Uniprot ID | Q07699 |
| Pfam | PF07686 |
| In ASD | yes |
| Allosteric Prediction | yes (0.284675082) |
| Ortholog in Animals | Alpaca_ SCN1B ( ortholog_one2one ) Dog_ SCN1B ( ortholog_one2one ) GuineaPig_ SCN1B ( ortholog_one2one ) Macaque_ SCN1B ( ortholog_one2one ) Mouse_ Scn1b ( ortholog_one2one ) Pig_ SCN1B ( ortholog_one2one ) Rat_ Scn1b ( ortholog_one2one ) Rabbit_ SCN1B ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | SCN3B |
| Tissue | skeletal.muscle, artery |
| Tissue Specificity | The overall expression of isoform 1 and isoform 2 is very similar. Isoform 1 is abundantly expressed in skeletal muscle, heart and brain. Isoform 2 is highly expressed in brain and skeletal muscle and present at a very low level in heart, placenta, lung, liver, kidney and pancreas. In brain, isoform 2 is most abundant in the cerebellum, followed by the cerebral cortex and occipital lobe, while isoform 1 levels are higher in the cortex compared to the cerebellum. Isoform 2 is expressed in many regions of the brain, including cerebellar Purkinje cells, cortex pyramidal neurons and many of the neuronal fibers throughout the brain (at protein level). Also detected in dorsal root ganglion, in fibers of the spinal nerve and in cortical neurons and their processes (at protein level). {ECO:0000269|PubMed:14622265, ECO:0000269|PubMed:8125980, ECO:0000269|PubMed:8394762}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 6AGF (EM 3.20A ) 6J8G (EM 3.20A ) 6J8H (EM 3.20A ) 6J8I (EM 3.20A ) 6J8J (EM 3.20A ) 7W77 (EM 3.30A ) 7W7F (EM 3.35A ) 7W9K (EM 2.20A ) 7W9L (EM 3.50A ) 7W9M (EM 3.00A ) 7W9P (EM 2.90A ) 7W9T (EM 3.00A ) 7XVE (EM 2.70A ) 7XVF (EM 2.80A ) |
| DBSNP | rs786205837 rs16969925 rs121434627 rs104894718 rs1135401736 rs759839781 rs72558029 rs72550247 rs780958012 rs150721582 rs201209882 |
| Subcellular location [CC] | [Isoform 1]: Cell membrane {ECO:0000269|PubMed:17928445, ECO:0000269|PubMed:19710327, ECO:0000269|PubMed:21994374, ECO:0000269|PubMed:29992740, ECO:0000269|PubMed:30190309, ECO:0000305|PubMed:8125980}; Single-pass type I membrane protein {ECO:0000269|PubMed:30190309, ECO:0000305|PubMed:8125980}. Perikaryon {ECO:0000250|UniProtKB:P97952}. Cell projection {ECO:0000250|UniProtKB:P97952}. Cell projection, axon {ECO:0000250|UniProtKB:Q00954}. Note=Detected at nodes of Ranvier on the sciatic nerve. {ECO:0000250|UniProtKB:Q00954}.; [Isoform 2]: Perikaryon {ECO:0000269|PubMed:14622265}. Cell projection {ECO:0000269|PubMed:14622265}. Secreted {ECO:0000269|PubMed:21994374}. Note=Detected on Purkinje cells and their cell projections and on neuronal cell projections. {ECO:0000269|PubMed:14622265}. |
| Mouse PG classification | HPG |
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