Knowledge (XXG)

SCNN1D

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is located in the short arm of chromosome 1 (Ensembl database code: ENSG00000162572) and starts at nucleotide 1,280,436 on the forward strand. Its length is about 11,583 bp. The gene encodes several alternative transcripts with different transcription and translation initiation sites. In mRNA samples
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The structure of ENaC has not been yet determined. Yet, the structure of a homologous protein ASIC1 has been resolved. The chicken ASIC1 structure revealed that ASIC1 is assembled as a homotrimer of three identical subunits. The authors of the original study suggested that the ASIC1 trimer resembles
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All four ENaC subunit sequences have two hydrophobic stretches that form two transmembrane segments named as TM1 and TM2. In the membrane-bound form, the TM segments are embedded in the membrane bilayer, the amino- and carboxy-terminal regions are located inside the cell, and the segment between the
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The primary structures of all four ENaC subunits show strong similarity. Thus, these four proteins represent a family of proteins that share a common ancestor. In global alignment (meaning alignments of sequences along their entire length and not just a partial segment), the human δ subunit shares
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In most vertebrates, sodium ions are the major determinant of the osmolarity of the extracellular fluid. ENaC allows transfer of sodium ions across the epithelial cell membrane in so-called "tight-epithelia" that have low permeability. The flow of sodium ions across epithelia affects osmolarity of
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Alignment of ENaC subunit sequences with ASIC1 sequence reveals that TM1 and TM2 segments and palm domain are conserved, and the knuckle, finger and thumb domains have insertions in ENaC. Site-directed mutagenesis studies on ENaC subunits provide evidence that many basic features of the ASIC1
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ENaC is expressed in epithelial cells and is different from the voltage-gated sodium channel that is involved in the generation of action potentials in neurons. The abbreviation for the genes encoding for voltage-gated sodium channel starts with three letters: SCN. In contrast to these sodium
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two TMs remains outside of the cell as the extracellular region of ENaC. This extracellular region includes about 70% of the residues of each subunit. Thus, in the membrane-bound form, the bulk of each subunit is located outside of the cell.
4167: 1482:"Cell-specific expression of epithelial sodium channel alpha, beta, and gamma subunits in aldosterone-responsive epithelia from the rat: localization by in situ hybridization and immunocytochemistry" 1437:
Enuka Y, Hanukoglu I, Edelheit O, Vaknine H, Hanukoglu A (March 2012). "Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways".
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channels, ENaC is constitutively active and is not voltage-dependent. The second N in the abbreviation (SCNN1D) represents that these are NON-voltage-gated channels.
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Rossier BC, Baker ME, Studer RA (January 2015). "Epithelial sodium transport and its control by aldosterone: the story of our internal environment revisited".
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the extracellular fluid. Thus, ENaC plays a central role in the regulation of body fluid and electrolyte homeostasis and consequently affects blood pressure.
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in vertebrates. ENaC is assembled as a heterotrimer composed of three homologous subunits α, β, and γ or δ, β, and γ. The other ENAC subunits are encoded by
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Yamamura H, Ugawa S, Ueda T, Nagao M, Shimada S (October 2006). "A novel spliced variant of the epithelial Na+ channel delta-subunit in the human brain".
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Giraldez T, Rojas P, Jou J, Flores C, Alvarez de la Rosa D (August 2012). "The epithelial sodium channel δ-subunit: new notes for an old song".
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Jasti J, Furukawa H, Gonzales EB, Gouaux E (September 2007). "Structure of acid-sensing ion channel 1 at 1.9 A resolution and low pH".
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structural model apply to ENaC as well. Yet, ENaC is an obligate heterotrimer composed of three subunits as an αβγ or a βγδ trimer.
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Giraldez T, Afonso-Oramas D, Cruz-Muros I, Garcia-Marin V, Pagel P, González-Hernández T, Alvarez de la Rosa D (August 2007).
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Canessa CM, Merillat AM, Rossier BC (December 1994). "Membrane topology of the epithelial sodium channel in intact cells".
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a hand holding a ball. Hence distinct domains of ASIC1 have been referred to as palm, knuckle, finger, thumb, and β-ball.
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The first cDNA encoding the delta subunit of ENaC was cloned and sequenced by Waldmann et al. from human kidney mRNA.
145: 48:, ENaCd, ENaCdelta, SCNED, dNaCh, sodium channel epithelial 1 delta subunit, sodium channel epithelial 1 subunit delta 956:
The 2016 version of this article was updated by an external expert under a dual publication model. The corresponding
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The tissue specific expression of the δ-subunit is very different from that of the other three subunits encoded by
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from human brain, alternative splicing products have been detected, cloned and characterized. The
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gene is found in most vertebrates, but the gene has been lost in the mouse and rat genomes.
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Bourque CW (July 2008). "Central mechanisms of osmosensation and systemic osmoregulation".
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So far mutations in the delta subunit have not been associated with a specific disease.
3616: 2303: 1784:"Degenerin sites mediate proton activation of deltabetagamma-epithelial sodium channel" 1638: 1613: 1506: 1481: 1373: 1348: 1121: 1096: 1008: 978: 973: 464: 459: 454: 449: 444: 439: 423: 418: 413: 408: 392: 387: 382: 4151: 3570: 3243: 1714:"Identification of Murr1 as a regulator of the human delta epithelial sodium channel" 1542: 1316: 1299: 1173: 369: 1694: 1466: 1333: 3923: 3314: 1852:
Ji HL, Su XF, Kedar S, Li J, Barbry P, Smith PR, Matalon S, Benos DJ (March 2006).
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National Center for Biotechnology Information, U.S. National Library of Medicine
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Waldmann R, Champigny G, Bassilana F, Voilley N, Lazdunski M (November 1995).
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34% identity with the α subunit and 23% identity with the β and γ subunits.
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Knowledge (XXG) articles with corresponding academic peer reviewed articles
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Baconguis I, Bohlen CJ, Goehring A, Julius D, Gouaux E (February 2014).
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gene encodes for the δ (delta) subunit of the epithelial sodium channel
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Ji HL, Zhao RZ, Chen ZX, Shetty S, Idell S, Matalon S (December 2012).
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Knowledge (XXG) articles with corresponding articles published in Gene
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Duc C, Farman N, Canessa CM, Bonvalet JP, Rossier BC (December 1994).
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American Journal of Physiology. Lung Cellular and Molecular Physiology
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Yamamura H, Ugawa S, Ueda T, Nagao M, Shimada S (October 2004).
1349:"δ ENaC: a novel divergent amiloride-inhibitable sodium channel" 807: 61: 4079: 3264: 2510: 2298: 1955: 1908: 349: 3603: 3501: 2622: 2582: 1747:
Yamamura H, Ugawa S, Ueda T, Nagao M, Shimada S (March 2004).
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Biasio W, Chang T, McIntosh CJ, McDonald FJ (February 2004).
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Exon-intron structure of the major transcript of human
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gene was first revealed by the Human Genome Project.
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Biochemical and Biophysical Research Communications
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Renal Physiology 1394: 1392: 1090: 1088: 1086: 1084: 16:Protein-coding gene in the species Homo sapiens 1920: 1564: 1562: 1560: 1432: 1430: 8: 1054:GRCh38: Ensembl release 89: ENSG00000162572 4089: 4076: 3274: 3261: 2523: 2507: 2311: 2295: 1968: 1952: 1927: 1913: 1905: 490: 365: 196: 93: 1897:at the U.S. National Library of Medicine 1869: 1834: 1799: 1764: 1729: 1637: 1505: 1372: 1315: 1239: 1120: 1095:Hanukoglu I, Hanukoglu A (January 2016). 1007: 1041: 18: 160: 119: 114: 7: 383:ligand-gated sodium channel activity 3293:Calcium-activated chloride channels 1858:The Journal of Biological Chemistry 1823:The Journal of Biological Chemistry 1788:The Journal of Biological Chemistry 1753:The Journal of Biological Chemistry 1718:The Journal of Biological Chemistry 1228:The Journal of Biological Chemistry 2363:Amiloride-sensitive cation channel 1531:The American Journal of Physiology 972:; Aaron Hanukoglu (1 April 2016). 718: 697: 673: 648: 626: 607: 583: 564: 540: 521: 460:sodium ion transmembrane transport 335: 296: 234: 213: 14: 839:As ENaC is strongly inhibited by 1543:10.1152/ajpcell.1994.267.6.C1682 1317:10.1111/j.1471-4159.2007.04622.x 947: 339: 144: 137: 131: 106: 3886:Voltage-dependent anion channel 1979:Inositol trisphosphate receptor 1439:Histochemistry and Cell Biology 3908:General bacterial porin family 409:integral component of membrane 350:More reference expression data 319:More reference expression data 250:right hemisphere of cerebellum 1: 1782:Ji HL, Benos DJ (June 2004). 129: 1146:Nature Reviews. Neuroscience 4158:Genes on human chromosome 1 1486:The Journal of Cell Biology 1413:10.1152/ajprenal.00116.2012 982:. Gene Wiki Review Series. 465:ion transmembrane transport 445:sensory perception of taste 4189: 3327:Chloride Channel Accessory 1936:Membrane transport protein 1630:10.1016/j.cell.2014.01.011 1365:10.1152/ajplung.00206.2012 1277:10.1016/j.bbrc.2006.08.043 1201:10.1152/physrev.00011.2014 1113:10.1016/j.gene.2015.12.061 992:10.1016/J.GENE.2015.12.061 888:Tissue-specific expression 4133: 4088: 4075: 3273: 3260: 2522: 2506: 2322:Epithelial sodium channel 2310: 2294: 1967: 1951: 1451:10.1007/s00418-011-0904-1 1304:Journal of Neurochemistry 1071:"Human PubMed Reference:" 960:article was published in 790: 785: 781: 774: 755: 738: 725: 704: 693: 680: 655: 644: 633: 629: 614: 610: 601: 590: 586: 571: 567: 558: 547: 543: 528: 524: 515: 500: 493: 489: 473: 368: 364: 347: 338: 329: 316: 303: 299: 246: 237: 207: 199: 195: 178: 165: 128: 105: 96: 92: 55: 52: 42: 35: 30: 26: 21: 2239:Cation channels of sperm 1899:Medical Subject Headings 1241:10.1074/jbc.270.46.27411 388:sodium channel activity 1871:10.1074/jbc.M512293200 1836:10.1074/jbc.M408929200 1801:10.1074/jbc.M401143200 1766:10.1074/jbc.M400274200 1731:10.1074/jbc.M311155200 1498:10.1083/jcb.127.6.1907 958:academic peer reviewed 868: 2315:Constitutively active 1895:SCNN1D+protein,+human 1189:Physiological Reviews 862: 744:Chr 1: 1.28 – 1.29 Mb 1661:Hanukoglu I (2017). 1537:(6 Pt 1): C1682–90. 966:and can be cited as: 871:The sequence of the 455:sodium ion transport 450:response to stimulus 122:Chromosome 1 (human) 4082:By gating mechanism 1591:10.1038/nature06163 1583:2007Natur.449..316J 1492:(6 Pt 2): 1907–21. 929:Associated diseases 3609:TRP cation channel 3507:CNG cation channel 2790:Tandem pore domain 2001:Ryanodine receptor 1679:10.1111/febs.13840 869: 433:Biological process 424:actin cytoskeleton 402:Cellular component 376:Molecular function 274:anterior pituitary 266:right frontal lobe 262:right uterine tube 86:SCNN1D - orthologs 4145: 4144: 4129: 4128: 4125: 4124: 4117:Stretch-activated 4094:Ion channel class 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1067: 1061: 1051: 1029: 1011: 970:Israel Hanukoglu 951: 943: 783: 782: 766: 751: 746: 729: 719: 710: 698: 694:RefSeq (protein) 684: 674: 665: 649: 627: 608: 584: 565: 541: 522: 491: 366: 352: 343: 336: 321: 297: 242: 240:Top expressed in 235: 214: 197: 187: 174: 163: 148: 141: 135: 124: 110: 94: 88: 47: 40: 19: 4188: 4187: 4183: 4182: 4181: 4179: 4178: 4177: 4173:Sodium channels 4148: 4147: 4146: 4141: 4121: 4084: 4063: 3912: 3811: 3801: 3597: 3495: 3471: 3269: 3248: 3162: 3039: 2896: 2879: 2784: 2748: 2718: 2674: 2666: 2649: 2603: 2518: 2494: 2467: 2406: 2389: 2348: 2306: 2282: 2165: 2137: 2124: 2111: 2091: 2078: 2043: 2022: 1963: 1961:Calcium channel 1947: 1933: 1891: 1886: 1864:(12): 8233–41. 1851: 1829:(43): 44483–9. 1816: 1781: 1746: 1711: 1707: 1705:Further reading 1702: 1660: 1659: 1655: 1611: 1610: 1606: 1568: 1567: 1558: 1528: 1527: 1523: 1479: 1478: 1474: 1436: 1435: 1428: 1398: 1397: 1390: 1346: 1345: 1341: 1297: 1296: 1292: 1262: 1261: 1257: 1234:(46): 27411–4. 1221: 1220: 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3135: 3134: 3133: 3128: 3123: 3116: 3115: 3114: 3109: 3102: 3101: 3100: 3095: 3090: 3083: 3082: 3081: 3076: 3069: 3068: 3067: 3062: 3057: 3052: 3047: 3037: 3032: 3031: 3030: 3029: 3024: 3019: 3014: 3007: 3006: 3005: 2998: 2997: 2996: 2991: 2986: 2979: 2978: 2977: 2972: 2967: 2962: 2955: 2954: 2953: 2948: 2941: 2940: 2939: 2934: 2929: 2924: 2919: 2914: 2909: 2904: 2894: 2889: 2887: 2881: 2880: 2878: 2877: 2876: 2875: 2870: 2865: 2860: 2855: 2850: 2845: 2840: 2835: 2830: 2825: 2820: 2815: 2810: 2805: 2794: 2792: 2786: 2785: 2783: 2782: 2781: 2780: 2775: 2770: 2765: 2760: 2755: 2746: 2742: 2741: 2740: 2735: 2730: 2725: 2716: 2708: 2707: 2706: 2701: 2696: 2691: 2686: 2681: 2672: 2668: 2664: 2659: 2657: 2651: 2650: 2648: 2647: 2646: 2645: 2640: 2635: 2630: 2625: 2620: 2615: 2610: 2601: 2597: 2596: 2595: 2587: 2586: 2585: 2580: 2575: 2565: 2564: 2563: 2558: 2553: 2548: 2543: 2532: 2530: 2520: 2519: 2511: 2504: 2503: 2500: 2499: 2496: 2495: 2493: 2492: 2491: 2490: 2485: 2480: 2475: 2465: 2461: 2460: 2459: 2454: 2449: 2444: 2439: 2434: 2429: 2424: 2419: 2414: 2404: 2399: 2397: 2391: 2390: 2388: 2387: 2386: 2385: 2380: 2375: 2370: 2359: 2357: 2350: 2349: 2347: 2346: 2345: 2344: 2339: 2334: 2329: 2318: 2316: 2308: 2307: 2304:Sodium channel 2299: 2292: 2291: 2288: 2287: 2284: 2283: 2281: 2280: 2279: 2278: 2273: 2263: 2262: 2261: 2256: 2251: 2246: 2235: 2234: 2233: 2232: 2227: 2222: 2217: 2207: 2206: 2205: 2200: 2195: 2190: 2180: 2179: 2178: 2173: 2163: 2158: 2157: 2156: 2155: 2150: 2145: 2135: 2127: 2122: 2114: 2109: 2101: 2100: 2099: 2089: 2081: 2076: 2068: 2067: 2066: 2061: 2056: 2051: 2041: 2032: 2030: 2024: 2023: 2021: 2020: 2019: 2018: 2013: 2008: 1998: 1997: 1996: 1991: 1986: 1975: 1973: 1965: 1964: 1956: 1949: 1948: 1934: 1932: 1931: 1924: 1917: 1909: 1903: 1902: 1890: 1889:External links 1887: 1885: 1884: 1849: 1814: 1779: 1744: 1724:(7): 5429–34. 1708: 1706: 1703: 1701: 1700: 1673:(4): 525–545. 1653: 1604: 1556: 1521: 1472: 1426: 1407:(3): F328–38. 1388: 1339: 1310:(4): 1304–15. 1290: 1255: 1214: 1195:(1): 297–340. 1179: 1136: 1080: 1062: 1040: 1038: 1035: 1032: 1031: 955: 953: 946: 938: 935: 930: 927: 909: 906: 889: 886: 856: 855:Gene structure 853: 848: 845: 796: 795: 792: 791: 789: 779: 778: 772: 771: 768: 767: 762: 760: 753: 752: 747: 740: 736: 735: 732: 731: 723: 722: 716: 713: 712: 702: 701: 695: 691: 690: 687: 686: 678: 677: 671: 668: 667: 653: 652: 646: 642: 641: 638: 637: 631: 630: 624: 621: 620: 612: 611: 605: 599: 598: 595: 594: 588: 587: 581: 578: 577: 569: 568: 562: 556: 555: 552: 551: 545: 544: 538: 535: 534: 526: 525: 519: 513: 512: 507: 502: 498: 497: 487: 486: 483: 482: 471: 470: 468: 467: 462: 457: 452: 447: 442: 436: 434: 430: 429: 427: 426: 421: 416: 411: 405: 403: 399: 398: 396: 395: 390: 385: 379: 377: 373: 372: 362: 361: 358: 357: 354: 353: 345: 344: 333: 327: 326: 323: 322: 314: 313: 310: 309: 307: 304: 301: 300: 294: 291: 290: 288: 287: 283: 279: 275: 271: 267: 263: 259: 255: 251: 247: 244: 243: 231: 230: 222: 211: 205: 204: 201:RNA expression 193: 192: 189: 188: 180: 176: 175: 167: 164: 159: 153: 152: 143: 136: 130: 126: 125: 118: 112: 111: 103: 102: 90: 89: 54: 50: 49: 41: 33: 32: 28: 27: 24: 23: 15: 13: 10: 9: 6: 4: 3: 2: 4185: 4174: 4171: 4169: 4166: 4164: 4161: 4159: 4156: 4155: 4153: 4140: 4139: 4132: 4118: 4115: 4113: 4112:Voltage-gated 4110: 4108: 4105: 4103: 4100: 4099: 4097: 4095: 4091: 4087: 4083: 4078: 4074: 4060: 4057: 4051: 4048: 4046: 4043: 4041: 4038: 4037: 4035: 4031: 4028: 4026: 4023: 4021: 4018: 4017: 4015: 4011: 4008: 4006: 4003: 4001: 3998: 3996: 3993: 3991: 3988: 3986: 3983: 3981: 3978: 3977: 3975: 3971: 3968: 3966: 3963: 3961: 3958: 3956: 3953: 3951: 3948: 3946: 3943: 3941: 3938: 3937: 3935: 3934: 3933: 3930: 3929: 3927: 3925: 3922: 3920: 3915: 3909: 3906: 3902: 3899: 3897: 3894: 3892: 3889: 3888: 3887: 3884: 3880: 3877: 3875: 3872: 3870: 3867: 3865: 3862: 3860: 3857: 3855: 3852: 3850: 3847: 3845: 3842: 3840: 3837: 3835: 3832: 3831: 3830: 3827: 3826: 3824: 3822: 3819: 3817: 3813: 3804: 3796: 3793: 3791: 3788: 3786: 3783: 3781: 3778: 3776: 3773: 3771: 3768: 3767: 3766: 3763: 3759: 3756: 3754: 3751: 3750: 3749: 3746: 3744: 3741: 3737: 3734: 3732: 3729: 3727: 3724: 3723: 3722: 3719: 3715: 3712: 3710: 3707: 3705: 3702: 3700: 3697: 3695: 3692: 3690: 3687: 3685: 3682: 3680: 3677: 3676: 3675: 3672: 3668: 3665: 3663: 3660: 3658: 3655: 3653: 3650: 3648: 3645: 3643: 3640: 3638: 3635: 3633: 3630: 3629: 3628: 3625: 3622: 3618: 3615: 3614: 3612: 3610: 3607: 3605: 3600: 3592: 3589: 3587: 3584: 3582: 3579: 3577: 3574: 3572: 3569: 3568: 3567: 3566: 3562: 3558: 3555: 3553: 3550: 3548: 3545: 3544: 3543: 3540: 3536: 3533: 3531: 3528: 3526: 3523: 3521: 3518: 3517: 3516: 3513: 3512: 3510: 3508: 3505: 3503: 3498: 3492: 3489: 3488: 3486: 3484: 3481: 3479: 3474: 3466: 3463: 3461: 3458: 3457: 3456: 3453: 3449: 3446: 3444: 3441: 3439: 3436: 3434: 3431: 3429: 3426: 3424: 3421: 3419: 3416: 3415: 3414: 3411: 3407: 3404: 3402: 3399: 3397: 3394: 3392: 3389: 3387: 3384: 3382: 3379: 3377: 3374: 3372: 3369: 3367: 3364: 3363: 3362: 3359: 3357: 3354: 3348: 3345: 3343: 3340: 3338: 3335: 3333: 3330: 3329: 3328: 3325: 3321: 3318: 3316: 3313: 3312: 3311: 3308: 3304: 3301: 3300: 3299: 3296: 3295: 3294: 3291: 3290: 3288: 3286: 3283: 3281: 3276: 3272: 3268: 3267:Miscellaneous 3263: 3259: 3245: 3244:Shaker (gene) 3242: 3238: 3235: 3233: 3230: 3228: 3225: 3224: 3223: 3220: 3218: 3217:minK/ISK-like 3215: 3213: 3210: 3206: 3203: 3201: 3198: 3196: 3193: 3191: 3188: 3187: 3186: 3183: 3179: 3176: 3174: 3171: 3169: 3166: 3165: 3164: 3157: 3156: 3151: 3148: 3146: 3143: 3141: 3138: 3137: 3136: 3132: 3129: 3127: 3124: 3122: 3119: 3118: 3117: 3113: 3110: 3108: 3105: 3104: 3103: 3099: 3096: 3094: 3091: 3089: 3086: 3085: 3084: 3080: 3077: 3075: 3072: 3071: 3070: 3066: 3063: 3061: 3058: 3056: 3053: 3051: 3048: 3046: 3043: 3042: 3041: 3034: 3033: 3028: 3025: 3023: 3020: 3018: 3015: 3013: 3010: 3009: 3008: 3004: 3001: 3000: 2999: 2995: 2992: 2990: 2987: 2985: 2982: 2981: 2980: 2976: 2973: 2971: 2968: 2966: 2963: 2961: 2958: 2957: 2956: 2952: 2949: 2947: 2944: 2943: 2942: 2938: 2935: 2933: 2930: 2928: 2925: 2923: 2920: 2918: 2915: 2913: 2910: 2908: 2905: 2903: 2900: 2899: 2898: 2891: 2890: 2888: 2886: 2885:Voltage-gated 2882: 2874: 2871: 2869: 2866: 2864: 2861: 2859: 2856: 2854: 2851: 2849: 2846: 2844: 2841: 2839: 2836: 2834: 2831: 2829: 2826: 2824: 2821: 2819: 2816: 2814: 2811: 2809: 2806: 2804: 2801: 2800: 2799: 2796: 2795: 2793: 2791: 2787: 2779: 2776: 2774: 2771: 2769: 2766: 2764: 2761: 2759: 2756: 2754: 2751: 2750: 2749: 2743: 2739: 2736: 2734: 2731: 2729: 2726: 2724: 2721: 2720: 2719: 2712: 2709: 2705: 2702: 2700: 2697: 2695: 2692: 2690: 2687: 2685: 2682: 2680: 2677: 2676: 2675: 2669: 2667: 2661: 2660: 2658: 2656: 2652: 2644: 2641: 2639: 2636: 2634: 2631: 2629: 2626: 2624: 2621: 2619: 2616: 2614: 2611: 2609: 2606: 2605: 2604: 2598: 2594: 2591: 2590: 2588: 2584: 2581: 2579: 2576: 2574: 2571: 2570: 2569: 2566: 2562: 2559: 2557: 2554: 2552: 2549: 2547: 2544: 2542: 2539: 2538: 2537: 2534: 2533: 2531: 2529: 2525: 2521: 2517: 2514: 2509: 2505: 2489: 2486: 2484: 2481: 2479: 2476: 2474: 2471: 2470: 2469: 2462: 2458: 2455: 2453: 2450: 2448: 2445: 2443: 2440: 2438: 2435: 2433: 2430: 2428: 2425: 2423: 2420: 2418: 2415: 2413: 2410: 2409: 2408: 2401: 2400: 2398: 2396: 2395:Voltage-gated 2392: 2384: 2381: 2379: 2376: 2374: 2371: 2369: 2366: 2365: 2364: 2361: 2360: 2358: 2355: 2351: 2343: 2340: 2338: 2335: 2333: 2330: 2328: 2325: 2324: 2323: 2320: 2319: 2317: 2313: 2309: 2305: 2302: 2297: 2293: 2277: 2274: 2272: 2269: 2268: 2267: 2264: 2260: 2257: 2255: 2252: 2250: 2247: 2245: 2242: 2241: 2240: 2237: 2236: 2231: 2228: 2226: 2223: 2221: 2218: 2216: 2213: 2212: 2211: 2208: 2204: 2201: 2199: 2196: 2194: 2191: 2189: 2186: 2185: 2184: 2181: 2177: 2174: 2172: 2169: 2168: 2167: 2160: 2159: 2154: 2151: 2149: 2146: 2144: 2141: 2140: 2139: 2131: 2128: 2126: 2118: 2115: 2113: 2105: 2102: 2098: 2095: 2094: 2093: 2085: 2082: 2080: 2072: 2069: 2065: 2062: 2060: 2057: 2055: 2052: 2050: 2047: 2046: 2045: 2037: 2034: 2033: 2031: 2029: 2028:Voltage-gated 2025: 2017: 2014: 2012: 2009: 2007: 2004: 2003: 2002: 1999: 1995: 1992: 1990: 1987: 1985: 1982: 1981: 1980: 1977: 1976: 1974: 1970: 1966: 1962: 1959: 1954: 1950: 1945: 1941: 1937: 1930: 1925: 1923: 1918: 1916: 1911: 1910: 1907: 1900: 1896: 1893: 1892: 1888: 1881: 1877: 1872: 1867: 1863: 1859: 1855: 1850: 1846: 1842: 1837: 1832: 1828: 1824: 1820: 1815: 1811: 1807: 1802: 1797: 1793: 1789: 1785: 1780: 1776: 1772: 1767: 1762: 1758: 1754: 1750: 1745: 1741: 1737: 1732: 1727: 1723: 1719: 1715: 1710: 1709: 1704: 1696: 1692: 1688: 1684: 1680: 1676: 1672: 1668: 1664: 1657: 1654: 1649: 1645: 1640: 1635: 1631: 1627: 1624:(4): 717–29. 1623: 1619: 1615: 1608: 1605: 1600: 1596: 1592: 1588: 1584: 1580: 1576: 1572: 1565: 1563: 1561: 1557: 1552: 1548: 1544: 1540: 1536: 1532: 1525: 1522: 1517: 1513: 1508: 1503: 1499: 1495: 1491: 1487: 1483: 1476: 1473: 1468: 1464: 1460: 1456: 1452: 1448: 1445:(3): 339–53. 1444: 1440: 1433: 1431: 1427: 1422: 1418: 1414: 1410: 1406: 1402: 1395: 1393: 1389: 1384: 1380: 1375: 1370: 1366: 1362: 1358: 1354: 1350: 1343: 1340: 1335: 1331: 1327: 1323: 1318: 1313: 1309: 1305: 1301: 1294: 1291: 1286: 1282: 1278: 1274: 1271:(1): 317–21. 1270: 1266: 1259: 1256: 1251: 1247: 1242: 1237: 1233: 1229: 1225: 1218: 1215: 1210: 1206: 1202: 1198: 1194: 1190: 1183: 1180: 1175: 1171: 1167: 1163: 1159: 1155: 1152:(7): 519–31. 1151: 1147: 1140: 1137: 1132: 1128: 1123: 1118: 1114: 1110: 1107:(2): 95–132. 1106: 1102: 1098: 1091: 1089: 1087: 1085: 1081: 1076: 1072: 1066: 1063: 1059: 1055: 1050: 1048: 1046: 1042: 1036: 1027: 1023: 1019: 1015: 1010: 1005: 1001: 997: 993: 989: 986:(2): 95–132. 985: 981: 980: 975: 971: 965: 964: 959: 954: 950: 945: 944: 941: 936: 934: 928: 926: 922: 918: 914: 907: 905: 903: 899: 895: 887: 885: 883: 878: 874: 866: 861: 854: 852: 846: 844: 842: 837: 833: 829: 827: 826: 821: 820: 815: 814: 809: 805: 804: 788: 784: 780: 777: 773: 763: 761: 758: 754: 748: 745: 741: 737: 730: 724: 720: 717: 711: 709: 703: 699: 696: 692: 685: 679: 675: 672: 666: 664: 660: 654: 650: 647: 645:RefSeq (mRNA) 643: 636: 632: 628: 625: 619: 618: 613: 609: 606: 604: 600: 593: 589: 585: 582: 576: 575: 570: 566: 563: 561: 557: 550: 546: 542: 539: 533: 532: 527: 523: 520: 518: 514: 511: 508: 506: 503: 499: 496: 492: 488: 481: 477: 472: 466: 463: 461: 458: 456: 453: 451: 448: 446: 443: 441: 440:ion transport 438: 437: 435: 432: 431: 425: 422: 420: 417: 415: 412: 410: 407: 406: 404: 401: 400: 394: 391: 389: 386: 384: 381: 380: 378: 375: 374: 371: 370:Gene ontology 367: 363: 351: 346: 342: 337: 334: 332: 328: 320: 315: 305: 302: 298: 295: 285: 281: 277: 273: 270:apex of heart 269: 265: 261: 257: 253: 249: 248: 245: 241: 236: 233: 232: 229: 227: 223: 221: 220: 216: 215: 212: 210: 206: 202: 198: 194: 186: 181: 177: 173: 168: 158: 154: 147: 140: 134: 127: 123: 117: 113: 109: 104: 100: 95: 91: 87: 83: 79: 75: 71: 67: 63: 59: 51: 46: 39: 34: 29: 25: 20: 4135: 4102:Ligand-gated 4093: 4081: 3924:Gap junction 3917: 3806: 3602: 3563: 3541: 3514: 3500: 3476: 3454: 3412: 3360: 3326: 3309: 3297: 3278: 3266: 3221: 3184: 3158: 3035: 2892: 2797: 2744: 2714: 2670: 2599: 2512: 2463: 2402: 2341: 2300: 2209: 2182: 2161: 2133: 2120: 2107: 2087: 2074: 2039: 1972:Ligand-gated 1957: 1940:ion channels 1861: 1857: 1826: 1822: 1791: 1787: 1756: 1752: 1721: 1717: 1670: 1666: 1656: 1621: 1617: 1607: 1574: 1570: 1534: 1530: 1524: 1489: 1485: 1475: 1442: 1438: 1404: 1400: 1356: 1352: 1342: 1307: 1303: 1293: 1268: 1264: 1258: 1231: 1227: 1217: 1192: 1188: 1182: 1149: 1145: 1139: 1104: 1100: 1074: 1065: 983: 977: 962: 961: 940: 932: 923: 919: 915: 911: 901: 897: 893: 891: 881: 876: 872: 870: 864: 850: 838: 834: 830: 823: 817: 811: 802: 801: 799: 726: 708:NP_001123885 705: 681: 659:NM_001130413 656: 634: 615: 591: 572: 548: 529: 509: 504: 254:right testis 224: 217: 53:External IDs 4107:Light-gated 2589:IK channel 282:right ovary 258:left testis 31:Identifiers 4152:Categories 3310:Bestrophin 2568:SK channel 2536:BK channel 2210:γ-subunits 2183:β-subunits 2166:δ-subunits 1060:, May 2017 1037:References 278:left ovary 228:(ortholog) 183:1,292,029 170:1,280,436 66:HomoloGene 4138:disorders 4136:see also 3919:Cytoplasm 3829:Aquaporin 3298:Anoctamin 3121:11.1/hERG 1174:205504313 1026:Q28272095 1000:0378-1119 841:amiloride 663:NM_002978 495:Orthologs 74:GeneCards 3932:Connexin 3212:minK/ISK 1880:16423824 1845:15308635 1810:15084585 1775:14726523 1740:14645214 1695:24402104 1687:27580245 1648:24507937 1599:17882215 1467:15178940 1459:22207244 1421:22573384 1383:22983350 1334:18291486 1326:17472699 1285:16930535 1209:25540145 1166:18509340 1131:26772908 1056:– 1022:Wikidata 1018:26772908 776:Wikidata 474:Sources: 419:membrane 4059:Innexin 3816:solutes 1639:4190031 1579:Bibcode 1551:7810611 1516:7806569 1507:2120291 1374:3532584 1250:7499195 1122:4756657 1058:Ensembl 1009:4756657 847:History 603:UniProt 560:Ensembl 501:Species 480:QuickGO 203:pattern 162:1p36.33 38:Aliases 2356:-gated 2354:Proton 2130:T-type 2117:R-type 2104:Q-type 2084:P-type 2071:N-type 2036:L-type 1901:(MeSH) 1878:  1843:  1808:  1773:  1738:  1693:  1685:  1646:  1636:  1597:  1571:Nature 1549:  1514:  1504:  1465:  1457:  1419:  1381:  1371:  1332:  1324:  1283:  1248:  1207:  1172:  1164:  1129:  1119:  1024:  1016:  1006:  998:  902:SCNN1G 900:, and 898:SCNN1B 894:SCNN1A 882:SCNN1D 877:SCNN1D 873:SCNN1D 865:SCNN1D 825:SCNN1G 822:, and 819:SCNN1B 813:SCNN1A 803:SCNN1D 759:search 757:PubMed 617:P51172 517:Entrez 331:BioGPS 78:SCNN1D 62:601328 45:SCNN1D 22:SCNN1D 3970:GJA10 3821:Porin 3721:TRPML 3491:HVCN1 3185:KCNIP 3040:α7-12 1944:TC 1A 1691:S2CID 1463:S2CID 1330:S2CID 1170:S2CID 963:Gene 937:Notes 510:Mouse 505:Human 476:Amigo 226:Mouse 219:Human 166:Start 99:Human 70:48152 4050:GJD4 4045:GJD3 4040:GJD2 4030:GJC3 4025:GJC2 4020:GJC1 4010:GJB7 4005:GJB6 4000:GJB5 3995:GJB4 3990:GJB3 3985:GJB2 3980:GJB1 3965:GJA9 3960:GJA8 3955:GJA5 3950:GJA4 3945:GJA3 3940:GJA1 3765:TRPV 3748:TRPP 3743:TRPN 3674:TRPM 3627:TRPC 3617:TRPA 3455:CLNS 3413:CLIC 3361:CLCN 3356:CFTR 3303:ANO1 3222:MiRP 3150:12.3 3145:12.2 3140:12.1 3131:11.3 3126:11.2 3112:10.2 3107:10.1 2897:α1-6 2711:GIRK 2125:α2.3 2112:α2.1 2079:α2.2 1876:PMID 1841:PMID 1806:PMID 1771:PMID 1736:PMID 1683:PMID 1644:PMID 1618:Cell 1595:PMID 1547:PMID 1512:PMID 1455:PMID 1417:PMID 1379:PMID 1322:PMID 1281:PMID 1246:PMID 1205:PMID 1162:PMID 1127:PMID 1101:Gene 1014:PMID 996:ISSN 979:Gene 808:ENaC 800:The 531:6339 209:Bgee 157:Band 116:Chr. 58:OMIM 3814:(+ 3652:4AP 3565:HCN 3098:9.3 3093:9.2 3088:9.1 3079:8.2 3074:8.1 3065:7.5 3060:7.4 3055:7.3 3050:7.2 3045:7.1 3027:6.4 3022:6.3 3017:6.2 3012:6.1 3003:5.1 2994:4.3 2989:4.2 2984:4.1 2975:3.4 2970:3.3 2965:3.2 2960:3.1 2951:2.2 2946:2.1 2937:1.8 2932:1.7 2927:1.6 2922:1.5 2917:1.4 2912:1.3 2907:1.2 2902:1.1 2798:K2P 2778:7.1 2773:6.2 2768:6.1 2763:5.1 2758:4.2 2753:4.1 2738:3.4 2733:3.3 2728:3.2 2723:3.1 2704:2.6 2699:2.4 2694:2.3 2689:2.2 2684:2.1 2679:1.1 2665:ATP 2643:5.1 2638:4.2 2633:4.1 2628:3.1 2623:2.3 2618:2.2 2613:2.1 2608:1.1 2593:IK1 2583:SK3 2578:SK2 2573:SK1 2452:1.9 2447:1.8 2442:1.7 2437:1.6 2432:1.5 2427:1.4 2422:1.3 2417:1.2 2412:1.1 2301:Na: 2153:3.3 2148:3.2 2143:3.1 2097:2.1 2064:1.4 2059:1.3 2054:1.2 2049:1.1 1958:Ca: 1866:doi 1862:281 1831:doi 1827:279 1796:doi 1792:279 1761:doi 1757:279 1726:doi 1722:279 1675:doi 1671:284 1634:PMC 1626:doi 1622:156 1587:doi 1575:449 1539:doi 1535:267 1502:PMC 1494:doi 1490:127 1447:doi 1443:137 1409:doi 1405:303 1369:PMC 1361:doi 1357:303 1312:doi 1308:102 1273:doi 1269:349 1236:doi 1232:270 1197:doi 1154:doi 1117:PMC 1109:doi 1105:579 1004:PMC 988:doi 984:579 765:n/a 750:n/a 728:n/a 683:n/a 635:n/a 592:n/a 549:n/a 306:n/a 179:End 82:OMA 4154:: 4036:D 4016:C 3976:B 3936:A 3818:): 3571:FC 3465:1B 3460:1A 3448:L1 3406:KB 3401:KA 3280:Cl 2873:18 2868:17 2863:16 2858:15 2853:13 2848:12 2843:10 2747:ir 2717:ir 2673:ir 2602:Ca 2561:β4 2556:β3 2551:β2 2546:β1 2541:α1 2513:K: 2464:Na 2457:7A 2403:Na 2230:γ4 2225:γ3 2220:γ2 2215:γ1 2203:β4 2198:β3 2193:β2 2188:β1 2134:Ca 2121:Ca 2108:Ca 2088:Ca 2075:Ca 2040:Ca 1938:: 1874:. 1860:. 1856:. 1839:. 1825:. 1821:. 1804:. 1790:. 1786:. 1769:. 1755:. 1751:. 1734:. 1720:. 1716:. 1689:. 1681:. 1669:. 1665:. 1642:. 1632:. 1620:. 1616:. 1593:. 1585:. 1573:. 1559:^ 1545:. 1533:. 1510:. 1500:. 1488:. 1484:. 1461:. 1453:. 1441:. 1429:^ 1415:. 1403:. 1391:^ 1377:. 1367:. 1355:. 1351:. 1328:. 1320:. 1306:. 1302:. 1279:. 1267:. 1244:. 1230:. 1226:. 1203:. 1193:95 1191:. 1168:. 1160:. 1148:. 1125:. 1115:. 1103:. 1099:. 1083:^ 1073:. 1044:^ 1020:. 1012:. 1002:. 994:. 976:. 896:, 828:. 816:, 478:/ 185:bp 172:bp 80:; 76:: 72:; 68:: 64:; 60:: 3921:: 3901:3 3896:2 3891:1 3879:9 3874:8 3869:7 3864:6 3859:5 3854:4 3849:3 3844:2 3839:1 3834:0 3812:O 3810:2 3808:H 3795:6 3790:5 3785:4 3780:3 3775:2 3770:1 3758:2 3753:1 3736:3 3731:2 3726:1 3714:8 3709:7 3704:6 3699:5 3694:4 3689:3 3684:2 3679:1 3667:7 3662:6 3657:5 3647:4 3642:3 3637:2 3632:1 3623:) 3621:1 3619:( 3606:: 3604:M 3591:4 3586:3 3581:2 3576:1 3557:3 3552:2 3547:1 3542:β 3535:4 3530:3 3525:2 3520:1 3515:α 3504:: 3502:M 3480:: 3478:H 3443:6 3438:5 3433:4 3428:3 3423:2 3418:1 3396:7 3391:6 3386:5 3381:4 3376:3 3371:2 3366:1 3347:4 3342:3 3337:2 3332:1 3320:2 3315:1 3282:: 3237:3 3232:2 3227:1 3205:4 3200:3 3195:2 3190:1 3178:3 3173:2 3168:1 3163:β 3161:v 3159:K 3038:v 3036:K 2895:v 2893:K 2838:9 2833:7 2828:6 2823:5 2818:4 2813:3 2808:2 2803:1 2745:K 2715:K 2713:/ 2671:K 2663:K 2600:K 2488:4 2483:3 2478:2 2473:1 2468:β 2466:v 2407:α 2405:v 2383:4 2378:3 2373:2 2368:1 2342:δ 2337:γ 2332:β 2327:α 2276:2 2271:1 2259:4 2254:3 2249:2 2244:1 2176:2 2171:1 2164:2 2162:α 2138:α 2136:v 2132:/ 2123:v 2119:/ 2110:v 2106:/ 2092:α 2090:v 2086:/ 2077:v 2073:/ 2044:α 2042:v 2038:/ 2016:3 2011:2 2006:1 1994:3 1989:2 1984:1 1946:) 1942:( 1928:e 1921:t 1914:v 1882:. 1868:: 1847:. 1833:: 1812:. 1798:: 1777:. 1763:: 1742:. 1728:: 1697:. 1677:: 1650:. 1628:: 1601:. 1589:: 1581:: 1553:. 1541:: 1518:. 1496:: 1469:. 1449:: 1423:. 1411:: 1385:. 1363:: 1336:. 1314:: 1287:. 1275:: 1252:. 1238:: 1211:. 1199:: 1176:. 1156:: 1150:9 1133:. 1111:: 1077:. 1028:. 990:: 101:) 84::

Index

Aliases
SCNN1D
OMIM
601328
HomoloGene
48152
GeneCards
SCNN1D
OMA
SCNN1D - orthologs
Human
Chromosome 1 (human)
Chr.
Chromosome 1 (human)
Chromosome 1 (human)
Genomic location for SCNN1D
Genomic location for SCNN1D
Band
bp
bp
RNA expression
Bgee
Human
Mouse
Top expressed in
More reference expression data
BioGPS

More reference expression data
Gene ontology

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