KEGG   Homo sapiens (human): 6337
Entry
6337              CDS       T01001                                 

Gene name
SCNN1A, BESC2, ENaCa, ENaCalpha, LIDLS3, SCNEA, SCNN1
Definition
(RefSeq) sodium channel epithelial 1 subunit alpha
  KO
K04824  amiloride-sensitive sodium channel subunit alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04742  Taste transduction
hsa04960  Aldosterone-regulated sodium reabsorption
Disease
H00242  Liddle syndrome
H00243  Hyperkalemic distal renal tubular acidosis (RTA type 4)
H00892  Bronchiectasis with or without elevated sweat chloride
H02310  Renal tubular acidosis
Drug target
Amiloride (DG00275): D00649<US> D07447
Triamterene: D00386<JP/US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09155 Excretory system
   04960 Aldosterone-regulated sodium reabsorption
    6337 (SCNN1A)
  09157 Sensory system
   04742 Taste transduction
    6337 (SCNN1A)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    6337 (SCNN1A)
Ion channels [BR:hsa04040]
 Ligand-gated channels
  Epithelial sodium channel (ENaC)
   6337 (SCNN1A)
SSDB
Motif
Pfam: ASC BAMBI_C
Other DBs
NCBI-GeneID: 6337
NCBI-ProteinID: NP_001029
OMIM: 600228
HGNC: 10599
Ensembl: ENSG00000111319
Vega: OTTHUMG00000168268
Pharos: P37088(Tclin)
UniProt: P37088
LinkDB
Structure
PDB: 
6BQN

Position
12p13.31
AA seq 669 aa
MEGNKLEEQDSSPPQSTPGLMKGNKREEQGLGPEPAAPQQPTAEEEALIEFHRSYRELFE
FFCNNTTIHGAIRLVCSQHNRMKTAFWAVLWLCTFGMMYWQFGLLFGEYFSYPVSLNINL
NSDKLVFPAVTICTLNPYRYPEIKEELEELDRITEQTLFDLYKYSSFTTLVAGSRSRRDL
RGTLPHPLQRLRVPPPPHGARRARSVASSLRDNNPQVDWKDWKIGFQLCNQNKSDCFYQT
YSSGVDAVREWYRFHYINILSRLPETLPSLEEDTLGNFIFACRFNQVSCNQANYSHFHHP
MYGNCYTFNDKNNSNLWMSSMPGINNGLSLMLRAEQNDFIPLLSTVTGARVMVHGQDEPA
FMDDGGFNLRPGVETSISMRKETLDRLGGDYGDCTKNGSDVPVENLYPSKYTQQVCIHSC
FQESMIKECGCAYIFYPRPQNVEYCDYRKHSSWGYCYYKLQVDFSSDHLGCFTKCRKPCS
VTSYQLSAGYSRWPSVTSQEWVFQMLSRQNNYTVNNKRNGVAKVNIFFKELNYKTNSESP
SVTMVTLLSNLGSQWSLWFGSSVLSVVEMAELVFDLLVIMFLMLLRRFRSRYWSPGRGGR
GAQEVASTLASSPPSHFCPHPMSLSLSQPGPAPSPALTAPPPAYATLGPRPSPGGSAGAS
SSTCPLGGP
NT seq 2010 nt   +upstreamnt  +downstreamnt
atggaggggaacaagctggaggagcaggactctagccctccacagtccactccagggctc
atgaaggggaacaagcgtgaggagcaggggctgggccccgaacctgcggcgccccagcag
cccacggcggaggaggaggccctgatcgagttccaccgctcctaccgagagctcttcgag
ttcttctgcaacaacaccaccatccacggcgccatccgcctggtgtgctcccagcacaac
cgcatgaagacggccttctgggcagtgctgtggctctgcacctttggcatgatgtactgg
caattcggcctgcttttcggagagtacttcagctaccccgtcagcctcaacatcaacctc
aactcggacaagctcgtcttccccgcagtgaccatctgcaccctcaatccctacaggtac
ccggaaattaaagaggagctggaggagctggaccgcatcacagagcagacgctctttgac
ctgtacaaatacagctccttcaccactctcgtggccggctcccgcagccgtcgcgacctg
cgggggactctgccgcaccccttgcagcgcctgagggtcccgcccccgcctcacggggcc
cgtcgagcccgtagcgtggcctccagcttgcgggacaacaacccccaggtggactggaag
gactggaagatcggcttccagctgtgcaaccagaacaaatcggactgcttctaccagaca
tactcatcaggggtggatgcggtgagggagtggtaccgcttccactacatcaacatcctg
tcgaggctgccagagactctgccatccctggaggaggacacgctgggcaacttcatcttc
gcctgccgcttcaaccaggtctcctgcaaccaggcgaattactctcacttccaccacccg
atgtatggaaactgctatactttcaatgacaagaacaactccaacctctggatgtcttcc
atgcctggaatcaacaacggtctgtccctgatgctgcgcgcagagcagaatgacttcatt
cccctgctgtccacagtgactggggcccgggtaatggtgcacgggcaggatgaacctgcc
tttatggatgatggtggctttaacttgcggcctggcgtggagacctccatcagcatgagg
aaggaaaccctggacagacttgggggcgattatggcgactgcaccaagaatggcagtgat
gttcctgttgagaacctttacccttcaaagtacacacagcaggtgtgtattcactcctgc
ttccaggagagcatgatcaaggagtgtggctgtgcctacatcttctatccgcggccccag
aacgtggagtactgtgactacagaaagcacagttcctgggggtactgctactataagctc
caggttgacttctcctcagaccacctgggctgtttcaccaagtgccggaagccatgcagc
gtgaccagctaccagctctctgctggttactcacgatggccctcggtgacatcccaggaa
tgggtcttccagatgctatcgcgacagaacaattacaccgtcaacaacaagagaaatgga
gtggccaaagtcaacatcttcttcaaggagctgaactacaaaaccaattctgagtctccc
tctgtcacgatggtcaccctcctgtccaacctgggcagccagtggagcctgtggttcggc
tcctcggtgttgtctgtggtggagatggctgagctcgtctttgacctgctggtcatcatg
ttcctcatgctgctccgaaggttccgaagccgatactggtctccaggccgagggggcagg
ggtgctcaggaggtagcctccaccctggcatcctcccctccttcccacttctgcccccac
cccatgtctctgtccttgtcccagccaggccctgctccctctccagccttgacagcccct
ccccctgcctatgccaccctgggcccccgcccatctccagggggctctgcaggggccagt
tcctccacctgtcctctgggggggccctga

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