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

Gene name
SCNN1A, BESC2, ENaCa, ENaCalpha, LIDLS3, SCNEA, SCNN1
Definition
(RefSeq) sodium channel epithelial 1 alpha subunit
  KO
K04824  amiloride-sensitive sodium channel subunit alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04742  Taste transduction
hsa04960  Aldosterone-regulated sodium reabsorption
Disease
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 D07447
Triamterene: D00386
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: ASC
Motif
Other DBs
NCBI-GeneID: 6337
NCBI-ProteinID: NP_001029
OMIM: 600228
HGNC: 10599
Ensembl: ENSG00000111319
Vega: OTTHUMG00000168268
Pharos: P37088(Tclin)
UniProt: P37088
Structure
PDB: 

Position
12p13.31
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

KEGG   Homo sapiens (human): 6338Help
Entry
6338              CDS       T01001                                 

Gene name
SCNN1B, BESC1, ENaCb, ENaCbeta, LIDLS1, SCNEB
Definition
(RefSeq) sodium channel epithelial 1 beta subunit
  KO
K04825  amiloride-sensitive sodium channel subunit beta
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
H01633  High blood pressure
H02310  Renal tubular acidosis
Drug target
Amiloride (DG00275): D00649 D07447
Triamterene: D00386
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09155 Excretory system
   04960 Aldosterone-regulated sodium reabsorption
    6338 (SCNN1B)
  09157 Sensory system
   04742 Taste transduction
    6338 (SCNN1B)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    6338 (SCNN1B)
Ion channels [BR:hsa04040]
 Ligand-gated channels
  Epithelial sodium channel (ENaC)
   6338 (SCNN1B)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: ASC
Motif
Other DBs
NCBI-GeneID: 6338
NCBI-ProteinID: NP_000327
OMIM: 600760
HGNC: 10600
Ensembl: ENSG00000168447
Vega: OTTHUMG00000131608
Pharos: P51168(Tclin)
UniProt: P51168 B2R812
Structure
PDB: 

Position
16p12.2
AA seq 640 aa AA seqDB search
MHVKKYLLKGLHRLQKGPGYTYKELLVWYCDNTNTHGPKRIICEGPKKKAMWFLLTLLFA
ALVCWQWGIFIRTYLSWEVSVSLSVGFKTMDFPAVTICNASPFKYSKIKHLLKDLDELME
AVLERILAPELSHANATRNLNFSIWNHTPLVLIDERNPHHPMVLDLFGDNHNGLTSSSAS
EKICNAHGCKMAMRLCSLNRTQCTFRNFTSATQALTEWYILQATNIFAQVPQQELVEMSY
PGEQMILACLFGAEPCNYRNFTSIFYPHYGNCYIFNWGMTEKALPSANPGTEFGLKLILD
IGQEDYVPFLASTAGVRLMLHEQRSYPFIRDEGIYAMSGTETSIGVLVDKLQRMGEPYSP
CTVNGSEVPVQNFYSDYNTTYSIQACLRSCFQDHMIRNCNCGHYLYPLPRGEKYCNNRDF
PDWAHCYSDLQMSVAQRETCIGMCKESCNDTQYKMTISMADWPSEASEDWIFHVLSQERD
QSTNITLSRKGIVKLNIYFQEFNYRTIEESAANNIVWLLSNLGGQFGFWMGGSVLCLIEF
GEIIIDFVWITIIKLVALAKSLRQRRAQASYAGPPPTVAELVEAHTNFGFQPDTAPRSPN
TGPYPSEQALPIPGTPPPNYDSLRLQPLDVIESDSEGDAI
NT seq 1923 nt NT seq  +upstreamnt  +downstreamnt
atgcacgtgaagaagtacctgctgaagggcctgcatcggctgcagaagggccccggctac
acgtacaaggagctgctggtgtggtactgcgacaacaccaacacccacggccccaagcgc
atcatctgtgaggggcccaagaagaaagccatgtggttcctgctcaccctgctcttcgcc
gccctcgtctgctggcagtggggcatcttcatcaggacctacttgagctgggaggtcagc
gtctccctctccgtaggcttcaagaccatggacttccctgccgtcaccatctgcaatgct
agccccttcaagtattccaaaatcaagcatttgctgaaggacctggatgagctgatggaa
gctgtcctggagagaatcctggctcctgagctaagccatgccaatgccaccaggaacctg
aacttctccatctggaaccacacacccctggtccttattgatgaacggaacccccaccac
cccatggtccttgatctctttggagacaaccacaatggcttaacaagcagctcagcatca
gaaaagatctgtaatgcccacgggtgcaaaatggccatgagactatgtagcctcaacagg
acccagtgtaccttccggaacttcaccagtgctacccaggcattgacagagtggtacatc
ctgcaggccaccaacatctttgcacaggtgccacagcaggagctagtagagatgagctac
cccggcgagcagatgatcctggcctgcctattcggagctgagccctgcaactaccggaac
ttcacgtccatcttctaccctcactatggcaactgttacatcttcaactggggcatgaca
gagaaggcacttccttcggccaaccctggaactgaattcggcctgaagttgatcctggac
ataggccaggaagactacgtccccttccttgcgtccacggccggggtcaggctgatgctt
cacgagcagaggtcataccccttcatcagagatgagggcatctacgccatgtcggggaca
gagacgtccatcggggtactcgtggacaagcttcagcgcatgggggagccctacagcccg
tgcaccgtgaatggttctgaggtccccgtccaaaacttctacagtgactacaacacgacc
tactccatccaggcctgtcttcgctcctgcttccaagaccacatgatccgtaactgcaac
tgtggccactacctgtacccactgccccgtggggagaaatactgcaacaaccgggacttc
ccagactgggcccattgctactcagatctacagatgagcgtggcgcagagagagacctgc
attggcatgtgcaaggagtcctgcaatgacacccagtacaagatgaccatctccatggct
gactggccttctgaggcctccgaggactggattttccacgtcttgtctcaggagcgggac
caaagcaccaatatcaccctgagcaggaagggaattgtcaagctcaacatctacttccaa
gaatttaactatcgcaccattgaagaatcagcagccaataacatcgtctggctgctctcg
aatctgggtggccagtttggcttctggatggggggctctgtgctgtgcctcatcgagttt
ggggagatcatcatcgactttgtgtggatcaccatcatcaagctggtggccttggccaag
agcctacggcagcggcgagcccaagccagctacgctggcccaccgcccaccgtggccgag
ctggtggaggcccacaccaactttggcttccagcctgacacggccccccgcagccccaac
actgggccctaccccagtgagcaggccctgcccatcccaggcaccccgccccccaactat
gactccctgcgtctgcagccgctggacgtcatcgagtctgacagtgagggtgatgccatc
taa

KEGG   Homo sapiens (human): 6340Help
Entry
6340              CDS       T01001                                 

Gene name
SCNN1G, BESC3, ENaCg, ENaCgamma, LDLS2, PHA1, SCNEG
Definition
(RefSeq) sodium channel epithelial 1 gamma subunit
  KO
K04827  amiloride-sensitive sodium channel subunit gamma
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
H01633  High blood pressure
H02310  Renal tubular acidosis
Drug target
Amiloride (DG00275): D00649 D07447
Triamterene: D00386
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09155 Excretory system
   04960 Aldosterone-regulated sodium reabsorption
    6340 (SCNN1G)
  09157 Sensory system
   04742 Taste transduction
    6340 (SCNN1G)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    6340 (SCNN1G)
Ion channels [BR:hsa04040]
 Ligand-gated channels
  Epithelial sodium channel (ENaC)
   6340 (SCNN1G)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: ASC
Motif
Other DBs
NCBI-GeneID: 6340
NCBI-ProteinID: NP_001030
OMIM: 600761
HGNC: 10602
Ensembl: ENSG00000166828
Vega: OTTHUMG00000131609
Pharos: P51170(Tclin)
UniProt: P51170 A5X2V1
Structure
PDB: 

Position
16p12.2
AA seq 649 aa AA seqDB search
MAPGEKIKAKIKKNLPVTGPQAPTIKELMRWYCLNTNTHGCRRIVVSRGRLRRLLWIGFT
LTAVALILWQCALLVFSFYTVSVSIKVHFRKLDFPAVTICNINPYKYSTVRHLLADLEQE
TREALKSLYGFPESRKRREAESWNSVSEGKQPRFSHRIPLLIFDQDEKGKARDFFTGRKR
KVGGSIIHKASNVMHIESKQVVGFQLCSNDTSDCATYTFSSGINAIQEWYKLHYMNIMAQ
VPLEKKINMSYSAEELLVTCFFDGVSCDARNFTLFHHPMHGNCYTFNNRENETILSTSMG
GSEYGLQVILYINEEEYNPFLVSSTGAKVIIHRQDEYPFVEDVGTEIETAMVTSIGMHLT
ESFKLSEPYSQCTEDGSDVPIRNIYNAAYSLQICLHSCFQTKMVEKCGCAQYSQPLPPAA
NYCNYQQHPNWMYCYYQLHRAFVQEELGCQSVCKEACSFKEWTLTTSLAQWPSVVSEKWL
LPVLTWDQGRQVNKKLNKTDLAKLLIFYKDLNQRSIMESPANSIEMLLSNFGGQLGLWMS
CSVVCVIEIIEVFFIDFFSIIARRQWQKAKEWWAWKQAPPCPEAPRSPQGQDNPALDIDD
DLPTFNSALHLPPALGTQVPGTPPPKYNTLRLERAFSNQLTDTQMLDEL
NT seq 1950 nt NT seq  +upstreamnt  +downstreamnt
atggcacccggagagaagatcaaagccaaaatcaagaagaatctgcccgtgacgggccct
caggcgccgaccattaaagagctgatgcggtggtactgcctcaacaccaacacccatggc
tgtcgccgcatcgtggtgtcccgcggccgtctgcgccgcctcctctggatcgggttcaca
ctgactgccgtggccctcatcctctggcagtgcgccctcctcgtcttctccttctatact
gtctcagtttccatcaaagtccacttccggaagctggattttcctgcagtcaccatctgc
aacatcaacccctacaagtacagcaccgttcgccaccttctagctgacttggaacaggag
accagagaggccctgaagtccctgtatggctttccagagtcccggaagcgccgagaggcg
gagtcctggaactccgtctcagagggaaagcagcctagattctcccaccggattccgctg
ctgatctttgatcaggatgagaagggcaaggccagggacttcttcacagggaggaagcgg
aaagtcggcggtagcatcattcacaaggcttcaaatgtcatgcacatcgagtccaagcaa
gtggtgggattccaactgtgctcaaatgacacctccgactgtgccacctacaccttcagc
tcgggaatcaatgccattcaggagtggtataagctacactacatgaacatcatggcacag
gtgcctctggagaagaaaatcaacatgagctattctgctgaggagctgctggtgacctgc
ttctttgatggagtgtcctgtgatgccaggaatttcacgcttttccaccacccgatgcat
gggaattgctatactttcaacaacagagaaaatgagaccattctcagcacctccatgggg
ggcagcgaatatgggctgcaagtcattttgtacataaacgaagaggaatacaacccattc
ctcgtgtcctccactggagctaaggtgatcatccatcggcaggatgagtatcccttcgtc
gaagatgtgggaacagagattgagacagcaatggtcacctctataggaatgcacctgaca
gagtccttcaagctgagtgagccctacagtcagtgcacggaggacgggagtgacgtgcca
atcaggaacatctacaacgctgcctactcgctccagatctgccttcattcatgcttccag
acaaagatggtggagaaatgtgggtgtgcccagtacagccagcctctacctcctgcagcc
aactactgcaactaccagcagcaccccaactggatgtattgttactaccaactgcatcga
gcctttgtccaggaagagctgggctgccagtctgtgtgcaaggaagcctgcagctttaaa
gagtggacactaaccacaagcctggcacaatggccatctgtggtttcggagaagtggttg
ctgcctgttctcacttgggaccaaggccggcaagtaaacaaaaagctcaacaagacagac
ttggccaaactcttgatattctacaaagacctgaaccagagatccatcatggagagccca
gccaacagtattgagatgcttctgtccaacttcggtggccagctgggcctgtggatgagc
tgctctgttgtctgcgtcatcgagatcatcgaggtcttcttcattgacttcttctctatc
attgcccgccgccagtggcagaaagccaaggagtggtgggcctggaaacaggctccccca
tgtccagaagctccccgtagcccacagggccaggacaatccagccctggatatagacgat
gacctacccactttcaactctgctttgcacctgcctccagccctaggaacccaagtgccc
ggcacaccgccccccaaatacaataccttgcgcttggagagggccttttccaaccagctc
acagatacccagatgctggatgagctctga

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