SCNN1D
entrez
6339
canonical
uniprot
P51172
canonical
ensembl
ENSG00000162572
resolver
ensp
ENSP00000368411
resolver
genesymbol
SCNN1D
resolver
genesymbol_syn
DNACH
resolver
hgnc
HGNC:10601
resolver
uniprot
A6NNF7
resolver
uniprot
A9Z1X6
resolver
uniprot
B1PS44
resolver
uniprot
B3KSD7
resolver
uniprot
Q08AQ3
resolver
uniprot
Q09HT0
resolver
uniprot
Q5T7L3
resolver
uniprot
Q8NA24
resolver
uniprot_entry
SCNND_HUMAN
resolver
uniprot_sec
A6NNF7
resolver
uniprot_sec
A9Z1X6
resolver
uniprot_sec
B1PS44
resolver
uniprot_sec
B3KSD7
resolver
uniprot_sec
Q08AQ3
resolver
uniprot_sec
Q09HT0
resolver
uniprot_sec
Q5T7L3
resolver
uniprot_sec
Q8NA24
resolver
activity_regulation
ACTIVITY REGULATION: Originally identified and characterized by its inhibition by the diuretic drug amiloride. {ECO:0000269|PubMed:16423824, ECO:0000269|PubMed:19520916, ECO:0000269|PubMed:22505667, ECO:0000269|PubMed:7499195}.
uniprot
proteins
amino_acid_sequence
MRAVLSQKTTPLPRYLWPGHLSGPRRLTWSWCSDHRTPTCRELGSPHPTPCTGPARGWPRRGGGPCGFTSAGHVLCGYPLCLLSGPIQGCGTGLGDSSMAFLSRTSPVAAASFQSRQEARGSILLQSCQLPPQWLSTEAWTGEWKQPHGGALTSRSPGPVAPQRPCHLKGWQHRPTQHNAACKQGQAAAQTPPRPGPPSAPPPPPKEGHQEGLVELPASFRELLTFFCTNATIHGAIRLVCSRGNRLKTTSWGLLSLGALVALCWQLGLLFERHWHRPVLMAVSVHSERKLLPLVTLCDGNPRRPSPVLRHLELLDEFARENIDSLYNVNLSKGRAALSATVPRHEPPFHLDREIRLQRLSHSGSRVRVGFRLCNSTGGDCFYRGYTSGVAAVQDWYHFHYVDILALLPAAWEDSHGSQDGHFVLSCSYDGLDCQARQFRTFHHPTYGSCYTVDGVWTAQRPGITHGVGLVLRVEQQPHLPLLSTLAGIRVMVHGRNHTPFLGHHSFSVRPGTEATISIREDEVHRLGSPYGHCTAGGEGVEVELLHNTSYTRQACLVSCFQQLMVETCSCGYYLHPLPAGAEYCSSARHPAWGHCFYRLYQDLETHRLPCTSRCPRPCRESAFKLSTGTSRWPSAKSAGWTLATLGEQGLPHQSHRQRSSLAKINIVYQELNYRSVEEAPVYSVPQLLSAMGSLCSLWFGASVLSLLELLELLLDASALTLVLGGRRLRRAWFSWPRASPASGASSIKPEASQMPPPAGGTSDDPEPSGPHLPRVMLPGVLAGVSAEESWAGPQPLETLDT
uniprot
proteins
function
FUNCTION: Potential alternative pore-forming subunit of the epithelial sodium channel (ENaC), capable of replacing the alpha/SCNN1A subunit, creating a more active channel with distinct properties (PubMed:16423824, PubMed:19520916, PubMed:22505667). ENaC functions in epithelial tissues, where it facilitates the electrodiffusion of sodium ions from the extracellular fluid through the apical membrane of cells, with water following osmotically, regulating sodium balance and fluid homeostasis (PubMed:16423824, PubMed:19520916, PubMed:7499195). This subunit could also function independently as a sodium channel or assemble into other tissue-specific heterotrimeric sodium channels (PubMed:7499195). {ECO:0000269|PubMed:16423824, ECO:0000269|PubMed:19520916, ECO:0000269|PubMed:22505667, ECO:0000269|PubMed:7499195}.; FUNCTION: [Isoform 2]: ENaC channels including this isoform exhibit greater conductance. {ECO:0000269|PubMed:22505667}.
uniprot
proteins
mass_dalton
87850
uniprot
proteins
protein_family
Amiloride-sensitive sodium channel (TC 1.A.6) family
uniprot
proteins
protein_family
SCNN1D subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16423824
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19520916
uniprot
proteins
pubmed
22505667
uniprot
proteins
pubmed
26772908
uniprot
proteins
pubmed
7499195
uniprot
proteins
sequence_length
802
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:19520916}; Multi-pass membrane protein {ECO:0000269|PubMed:19520916}.
uniprot
proteins
transmembrane_region
TRANSMEM 251..271; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 695..715; /note="Helical; Name=2"; /evidence="ECO:0000255
uniprot
proteins