UniProt ID | SCNNA_HUMAN | |
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UniProt AC | P37088 | |
Protein Name | Amiloride-sensitive sodium channel subunit alpha | |
Gene Name | SCNN1A | |
Organism | Homo sapiens (Human). | |
Sequence Length | 669 | |
Subcellular Localization |
Apical cell membrane Multi-pass membrane protein . Cell projection, cilium . Cytoplasmic granule . Cytoplasm . Cytoplasmic vesicle, secretory vesicle, acrosome . Cell projection, cilium, flagellum . In the oviduct and bronchus, located on cilia in |
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Protein Description | Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and eccrine sweat glands. Also plays a role in taste perception.. | |
Protein Sequence | MEGNKLEEQDSSPPQSTPGLMKGNKREEQGLGPEPAAPQQPTAEEEALIEFHRSYRELFEFFCNNTTIHGAIRLVCSQHNRMKTAFWAVLWLCTFGMMYWQFGLLFGEYFSYPVSLNINLNSDKLVFPAVTICTLNPYRYPEIKEELEELDRITEQTLFDLYKYSSFTTLVAGSRSRRDLRGTLPHPLQRLRVPPPPHGARRARSVASSLRDNNPQVDWKDWKIGFQLCNQNKSDCFYQTYSSGVDAVREWYRFHYINILSRLPETLPSLEEDTLGNFIFACRFNQVSCNQANYSHFHHPMYGNCYTFNDKNNSNLWMSSMPGINNGLSLMLRAEQNDFIPLLSTVTGARVMVHGQDEPAFMDDGGFNLRPGVETSISMRKETLDRLGGDYGDCTKNGSDVPVENLYPSKYTQQVCIHSCFQESMIKECGCAYIFYPRPQNVEYCDYRKHSSWGYCYYKLQVDFSSDHLGCFTKCRKPCSVTSYQLSAGYSRWPSVTSQEWVFQMLSRQNNYTVNNKRNGVAKVNIFFKELNYKTNSESPSVTMVTLLSNLGSQWSLWFGSSVLSVVEMAELVFDLLVIMFLMLLRRFRSRYWSPGRGGRGAQEVASTLASSPPSHFCPHPMSLSLSQPGPAPSPALTAPPPAYATLGPRPSPGGSAGASSSTCPLGGP | |
Overview of Protein Modification Sites with Functional and Structural Information | ||
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* ASA = Accessible Surface Area
Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
---|---|---|---|---|---|
22 (in isoform 5) | Ubiquitination | - | 65.46 | 21906983 | |
22 (in isoform 3) | Ubiquitination | - | 65.46 | 21906983 | |
22 (in isoform 1) | Ubiquitination | - | 65.46 | 21906983 | |
22 (in isoform 4) | Ubiquitination | - | 65.46 | 21906983 | |
22 | Ubiquitination | QSTPGLMKGNKREEQ CCCCCCCCCCCCCCC | 65.46 | 21906983 | |
54 | Phosphorylation | ALIEFHRSYRELFEF HHHHHHHHHHHHHHH | 21.70 | 25954137 | |
55 | Phosphorylation | LIEFHRSYRELFEFF HHHHHHHHHHHHHHH | 14.20 | 25954137 | |
67 | Phosphorylation | EFFCNNTTIHGAIRL HHHHCCCCHHHHHHH | 17.07 | 25954137 | |
81 (in isoform 2) | Ubiquitination | - | 26.33 | 21906983 | |
144 | Ubiquitination | PYRYPEIKEELEELD CCCCHHHHHHHHHHH | 43.40 | 23503661 | |
154 | Phosphorylation | LEELDRITEQTLFDL HHHHHHHCHHHHHHH | 23.96 | - | |
166 | Phosphorylation | FDLYKYSSFTTLVAG HHHHHHCCCCEEEEC | 24.42 | 24719451 | |
167 | Ubiquitination | DLYKYSSFTTLVAGS HHHHHCCCCEEEECC | 5.07 | 23503661 | |
174 | Phosphorylation | FTTLVAGSRSRRDLR CCEEEECCCCHHHCC | 19.83 | 24719451 | |
203 (in isoform 2) | Ubiquitination | - | 11.53 | - | |
203 | Ubiquitination | PPHGARRARSVASSL CCCCHHHHHHHHHHH | 11.53 | 23503661 | |
220 (in isoform 1) | Ubiquitination | - | 49.61 | 21906983 | |
220 (in isoform 4) | Ubiquitination | - | 49.61 | 21906983 | |
220 (in isoform 3) | Ubiquitination | - | 49.61 | 21906983 | |
220 (in isoform 5) | Ubiquitination | - | 49.61 | 21906983 | |
220 | Ubiquitination | NNPQVDWKDWKIGFQ CCCCCCHHHCHHHHH | 49.61 | 21906983 | |
223 | Ubiquitination | QVDWKDWKIGFQLCN CCCHHHCHHHHHCCC | 42.98 | 23503661 | |
225 | Phosphorylation | DWKDWKIGFQLCNQN CHHHCHHHHHCCCCC | 10.67 | 24719451 | |
233 | Ubiquitination | FQLCNQNKSDCFYQT HHCCCCCCCCCEEEH | 37.60 | 21906983 | |
233 (in isoform 1) | Ubiquitination | - | 37.60 | 21906983 | |
233 (in isoform 5) | Ubiquitination | - | 37.60 | 21906983 | |
233 | Phosphorylation | FQLCNQNKSDCFYQT HHCCCCCCCCCEEEH | 37.60 | 24719451 | |
233 (in isoform 4) | Ubiquitination | - | 37.60 | 21906983 | |
243 | Ubiquitination | CFYQTYSSGVDAVRE CEEEHHHCCHHHHHH | 32.21 | 23503661 | |
246 | Ubiquitination | QTYSSGVDAVREWYR EHHHCCHHHHHHHHH | 42.76 | 23503661 | |
279 (in isoform 2) | Ubiquitination | - | 2.19 | 21906983 | |
279 | Ubiquitination | EDTLGNFIFACRFNQ CCCHHHEEEEEECCC | 2.19 | 23503661 | |
282 | Ubiquitination | LGNFIFACRFNQVSC HHHEEEEEECCCCCC | 3.39 | 23503661 | |
292 (in isoform 2) | Ubiquitination | - | 11.70 | 21906983 | |
314 | Phosphorylation | TFNDKNNSNLWMSSM EEECCCCCCCEECCC | 42.57 | 22210691 | |
375 | Phosphorylation | NLRPGVETSISMRKE CCCCCCEEEHHHCHH | 29.02 | 24719451 | |
376 | Phosphorylation | LRPGVETSISMRKET CCCCCEEEHHHCHHH | 10.12 | 24719451 | |
378 | Phosphorylation | PGVETSISMRKETLD CCCEEEHHHCHHHHH | 16.58 | - | |
383 | Phosphorylation | SISMRKETLDRLGGD EHHHCHHHHHHHCCC | 36.67 | - | |
411 | Phosphorylation | ENLYPSKYTQQVCIH HHCCCCCCHHHHHHH | 17.70 | 27732954 | |
412 | Phosphorylation | NLYPSKYTQQVCIHS HCCCCCCHHHHHHHH | 19.09 | 27732954 | |
419 | Phosphorylation | TQQVCIHSCFQESMI HHHHHHHHHHCHHHH | 9.19 | 27732954 | |
434 | Phosphorylation | KECGCAYIFYPRPQN HHHCCEEEEECCCCC | 1.10 | 24719451 | |
435 | Phosphorylation | ECGCAYIFYPRPQNV HHCCEEEEECCCCCC | 4.47 | 24719451 | |
451 (in isoform 5) | Phosphorylation | - | 30.71 | 22210691 | |
452 (in isoform 5) | Phosphorylation | - | 25.00 | 22210691 | |
458 (in isoform 5) | Phosphorylation | - | 11.14 | 22210691 | |
460 (in isoform 5) | Phosphorylation | - | 3.29 | 22210691 | |
510 (in isoform 4) | Ubiquitination | - | 42.22 | 21906983 | |
523 | Ubiquitination | NKRNGVAKVNIFFKE CCCCCEEEEEEEEEH | 33.15 | 23503661 | |
529 | Ubiquitination | AKVNIFFKELNYKTN EEEEEEEEHHCCCCC | 51.01 | 2190698 | |
529 (in isoform 1) | Ubiquitination | - | 51.01 | 21906983 | |
534 | Ubiquitination | FFKELNYKTNSESPS EEEHHCCCCCCCCCC | 39.91 | 23503661 | |
546 | Ubiquitination | SPSVTMVTLLSNLGS CCCEEHHHHHHHCCH | 15.91 | 23503661 | |
551 (in isoform 5) | Ubiquitination | - | 6.66 | 21906983 | |
552 | Ubiquitination | VTLLSNLGSQWSLWF HHHHHHCCHHHHHHC | 23.26 | 23503661 | |
557 | Ubiquitination | NLGSQWSLWFGSSVL HCCHHHHHHCCHHHH | 3.91 | 23503661 | |
582 | Ubiquitination | DLLVIMFLMLLRRFR HHHHHHHHHHHHHHH | 0.99 | 23503661 | |
588 (in isoform 2) | Ubiquitination | - | 7.22 | 21906983 | |
588 | Ubiquitination | FLMLLRRFRSRYWSP HHHHHHHHHHHHCCC | 7.22 | 23503661 | |
593 | Ubiquitination | RRFRSRYWSPGRGGR HHHHHHHCCCCCCCC | 9.28 | 23503661 | |
594 | Phosphorylation | RFRSRYWSPGRGGRG HHHHHHCCCCCCCCC | 14.45 | 20740360 | |
663 | Phosphorylation | SAGASSSTCPLGGP- CCCCCCCCCCCCCC- | 21.79 | 17596527 |
Modified Location | Modified Residue | Modification | Function | Reference | ||
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Oops, there are no descriptions of PTM sites of SCNNA_HUMAN !! |
* Distance = the distance between SAP position and PTM sites.
Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
---|---|---|---|---|---|---|
Oops, there are no SNP-PTM records of SCNNA_HUMAN !! |
Interacting Protein | Gene Name | Interaction Type | PPI Reference | Domain-Domain Interactions |
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NEDD4_HUMAN | NEDD4 | physical | 10642508 | |
NEDD4_HUMAN | NEDD4 | physical | 11244092 | |
NED4L_HUMAN | NEDD4L | physical | 11244092 | |
HECW1_HUMAN | HECW1 | physical | 11244092 | |
ITCH_HUMAN | ITCH | physical | 11244092 | |
NED4L_HUMAN | NEDD4L | physical | 14556380 | |
TS101_HUMAN | TSG101 | physical | 14556380 | |
WWP1_HUMAN | WWP1 | physical | 14556380 | |
UBC9_HUMAN | UBE2I | physical | 14556380 | |
NED4L_HUMAN | NEDD4L | physical | 17502380 | |
EPN1_HUMAN | EPN1 | physical | 16574660 | |
HGS_HUMAN | HGS | physical | 20675381 | |
NED4L_HUMAN | NEDD4L | physical | 16416336 | |
UBP2_HUMAN | USP2 | physical | 18701608 | |
NED4L_HUMAN | NEDD4L | physical | 18701608 | |
SERP1_HUMAN | SERP1 | physical | 22526458 | |
SCNNB_HUMAN | SCNN1B | physical | 22526458 | |
UBP8_HUMAN | USP8 | physical | 23297398 | |
LHS1_YEAST | LHS1 | physical | 23645669 | |
HYOU1_HUMAN | HYOU1 | physical | 23645669 | |
NED4L_HUMAN | NEDD4L | physical | 26651153 | |
DERL1_HUMAN | DERL1 | physical | 28137758 | |
SCNNB_HUMAN | SCNN1B | physical | 27903760 | |
SCNNG_HUMAN | SCNN1G | physical | 27903760 |
Kegg Disease | |
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H00243 | Hyperkalemic distal renal tubular acidosis (RTA type 4), including: Pseudohypoaldosteronism type I |
H00892 | Bronchiectasis with or without elevated sweat chloride |
OMIM Disease | |
264350 | Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) |
613021 | Bronchiectasis with or without elevated sweat chloride 2 (BESC2) |
Kegg Drug | |
D00386 | Triamterene (JP16/USP/INN); Dyrenium (TN) |
D00649 | Amiloride hydrochloride (USP); Midamor (TN) |
D07447 | Amiloride (INN); Amiclaran (TN) |
DrugBank | |
DB00594 | Amiloride |
DB00384 | Triamterene |
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