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

Gene name
SCNN1A, BESC2, ENaCa, ENaCalpha, SCNEA, SCNN1
Definition
sodium channel, non-voltage-gated 1 alpha subunit
Orthology
K04824  
amiloride-sensitive sodium channel subunit alpha
Organism
hsa  Homo sapiens (human)
Pathway
Taste transduction
Aldosterone-regulated sodium reabsorption
Disease
H00243  
Hyperkalemic distal renal tubular acidosis (RTA type 4)
H00892  
Bronchiectasis with or without elevated sweat chloride
Drug target
Amiloride: 
Triamterene: 
Class
Organismal Systems; Excretory system; Aldosterone-regulated sodium reabsorption [PATH:hsa04960]
Organismal Systems; Sensory system; Taste transduction [PATH:hsa04742]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
12p13
AA seq 669 aa AA seqDB search
MEGNKLEEQDSSPPQSTPGLMKGNKREEQGLGPEPAAPQQPTAEEEALIEFHRSYRELFE
FFCNNTTIHGAIRLVCSQHNRMKTAFWAVLWLCTFGMMYWQFGLLFGEYFSYPVSLNINL
NSDKLVFPAVTICTLNPYRYPEIKEELEELDRITEQTLFDLYKYSSFTTLVAGSRSRRDL
RGTLPHPLQRLRVPPPPHGARRARSVASSLRDNNPQVDWKDWKIGFQLCNQNKSDCFYQT
YSSGVDAVREWYRFHYINILSRLPETLPSLEEDTLGNFIFACRFNQVSCNQANYSHFHHP
MYGNCYTFNDKNNSNLWMSSMPGINNGLSLMLRAEQNDFIPLLSTVTGARVMVHGQDEPA
FMDDGGFNLRPGVETSISMRKETLDRLGGDYGDCTKNGSDVPVENLYPSKYTQQVCIHSC
FQESMIKECGCAYIFYPRPQNVEYCDYRKHSSWGYCYYKLQVDFSSDHLGCFTKCRKPCS
VTSYQLSAGYSRWPSVTSQEWVFQMLSRQNNYTVNNKRNGVAKVNIFFKELNYKTNSESP
SVTMVTLLSNLGSQWSLWFGSSVLSVVEMAELVFDLLVIMFLMLLRRFRSRYWSPGRGGR
GAQEVASTLASSPPSHFCPHPMSLSLSQPGPAPSPALTAPPPAYATLGPRPSPGGSAGAS
SSTCPLGGP
NT seq 2010 nt NT seq  +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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