| Gene Information | |
|---|---|
| Gene Name | SCNN1A |
| Organism | Homo sapiens (Human) |
| Gene Length | 669 |
| Protein Names | Amiloride-sensitive sodium channel subunit alpha (Alpha-NaCH) (Epithelial Na(+) channel subunit alpha) (Alpha-ENaC) (ENaCA) (Nonvoltage-gated sodium channel 1 subunit alpha) (SCNEA) |
| Target Name | amiloride-sensitive sodium channel subunit alpha |
| Target Type | NA |
| Gene Age | 454 ( ENSG00000111319 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | P37088 |
| Gene Card | SCNN1A |
| Uniprot ID | P37088 |
| Pfam | PF00858 |
| In ASD | no |
| Allosteric Prediction | yes (1.128441641) |
| Ortholog in Animals | Alpaca_ SCNN1A ( ortholog_one2one ) Dog_ SCNN1A ( ortholog_one2one ) GuineaPig_ SCNN1A ( ortholog_one2one ) Macaque_ SCNN1A ( ortholog_one2one ) Mouse_ Scnn1a ( ortholog_one2one ) Pig_ SCNN1A ( ortholog_one2one ) Rat_ Scnn1a ( ortholog_one2one ) Rabbit_ SCNN1A ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | ASIC1, ASIC5, SCNN1B, SCNN1G, ASIC4, SCNN1D, ASIC2, ASIC3 |
| Tissue | NA |
| Tissue Specificity | Expressed in the female reproductive tract, from the fimbrial end of the fallopian tube to the endometrium (at protein level) (PubMed:22207244). Expressed in kidney (at protein level). In the respiratory tract, expressed in the bronchial epithelium (at protein level). Highly expressed in lung. Detected at intermediate levels in pancreas and liver, and at low levels in heart and placenta (PubMed:22207244). in skin, expressed in keratinocytes, melanocytes and Merkel cells of the epidermal sub-layers, stratum basale, stratum spinosum and stratum granulosum (at protein level) (PubMed:28130590). Expressed in the outer root sheath of the hair follicles (at protein level) (PubMed:28130590). Detected in both peripheral and central cells of the sebaceous gland (at protein level) (PubMed:28130590). Expressed by eccrine sweat glands (at protein level) (PubMed:28130590). In skin, also expressed by arrector pili muscle cells and intradermal adipocytes (PubMed:28130590). Isoform 1 and isoform 2 predominate in all tissues. Expression of isoform 3, isoform 4 and isoform 5 is very low or not detectable, except in lung and heart (PubMed:9575806). {ECO:0000269|PubMed:22207244, ECO:0000269|PubMed:28130590, ECO:0000269|PubMed:9575806}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.980900(Rat);0.287366(Rabbit) |
| 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 | 2M3O (NMR - ) 6BQN (EM 3.90A ) 6WTH (EM 3.06A ) |
| DBSNP | rs61758859 rs61759861 rs55797039 rs974854786 rs11542844 rs13306616 rs201873521 rs5742912 rs137852635 rs59142484 rs3741913 rs2228576 |
| Subcellular location [CC] | Apical cell membrane {ECO:0000269|PubMed:22207244, ECO:0000269|PubMed:28130590}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P37089}. Cell projection, cilium {ECO:0000269|PubMed:22207244}. Cytoplasmic granule {ECO:0000269|PubMed:28130590}. Cytoplasm {ECO:0000269|PubMed:28130590}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:P37089}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:P37089}. Note=In the oviduct and bronchus, located on cilia in multi-ciliated cells. In endometrial non-ciliated epithelial cells, restricted to apical surfaces. In epidermis, located nearly uniformly in the cytoplasm in a granular distribution (PubMed:28130590). In sebaceous glands, observed only in the cytoplasmic space in between the lipid vesicles (PubMed:28130590). In eccrine sweat glands, mainly located at the apical surface of the cells facing the lumen (PubMed:28130590). In skin, in arrector pili muscle cells and in adipocytes, located in the cytoplasm and colocalized with actin fibers (PubMed:28130590). In spermatogonia, spermatocytes and round spermatids, located in the cytoplasm (By similarity). Prior to spermiation, location shifts from the cytoplasm to the spermatid tail (By similarity). In spermatozoa, localizes at the acrosome and the central region of the sperm flagellum (By similarity). {ECO:0000250|UniProtKB:P37089, ECO:0000269|PubMed:22207244, ECO:0000269|PubMed:24124190, ECO:0000269|PubMed:28130590}. |
| Mouse PG classification | NA |
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