KEGG   Homo sapiens (human): 259232
Entry
259232            CDS       T01001                                 
Symbol
NALCN, CLIFAHDD, CanIon, IHPRF, IHPRF1, INNFD, VGCNL1, bA430M15.1
Name
(RefSeq) sodium leak channel, non-selective
  KO
K21863  sodium leak channel non-selective protein
Organism
hsa  Homo sapiens (human)
Disease
H01922  Infantile hypotonia with psychomotor retardation and characteristic facies
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    259232 (NALCN)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Sodium leak channel, non-selective
   259232 (NALCN)
SSDB
Motif
Pfam: Ion_trans PKD_channel PsaF DUF5914 FAM165
Other DBs
NCBI-GeneID: 259232
NCBI-ProteinID: NP_443099
OMIM: 611549
HGNC: 19082
Ensembl: ENSG00000102452
UniProt: Q8IZF0
Structure
Position
13:complement(101053776..101417179)
AA seq 1738 aa
MLKRKQSSRVEAQPVTDFGPDESLSDNADILWINKPWVHSLLRICAIISVISVCMNTPMT
FEHYPPLQYVTFTLDTLLMFLYTAEMIAKMHIRGIVKGDSSYVKDRWCVFDGFMVFCLWV
SLVLQVFEIADIVDQMSPWGMLRIPRPLIMIRAFRIYFRFELPRTRITNILKRSGEQIWS
VSIFLLFFLLLYGILGVQMFGTFTYHCVVNDTKPGNVTWNSLAIPDTHCSPELEEGYQCP
PGFKCMDLEDLGLSRQELGYSGFNEIGTSIFTVYEAASQEGWVFLMYRAIDSFPRWRSYF
YFITLIFFLAWLVKNVFIAVIIETFAEIRVQFQQMWGSRSSTTSTATTQMFHEDAAGGWQ
LVAVDVNKPQGRAPACLQKMMRSSVFHMFILSMVTVDVIVAASNYYKGENFRRQYDEFYL
AEVAFTVLFDLEALLKIWCLGFTGYISSSLHKFELLLVIGTTLHVYPDLYHSQFTYFQVL
RVVRLIKISPALEDFVYKIFGPGKKLGSLVVFTASLLIVMSAISLQMFCFVEELDRFTTF
PRAFMSMFQILTQEGWVDVMDQTLNAVGHMWAPVVAIYFILYHLFATLILLSLFVAVILD
NLELDEDLKKLKQLKQSEANADTKEKLPLRLRIFEKFPNRPQMVKISKLPSDFTVPKIRE
SFMKQFIDRQQQDTCCLLRSLPTTSSSSCDHSKRSAIEDNKYIDQKLRKSVFSIRARNLL
EKETAVTKILRACTRQRMLSGSFEGQPAKERSILSVQHHIRQERRSLRHGSNSQRISRGK
SLETLTQDHSNTVRYRNAQREDSEIKMIQEKKEQAEMKRKVQEEELRENHPYFDKPLFIV
GREHRFRNFCRVVVRARFNASKTDPVTGAVKNTKYHQLYDLLGLVTYLDWVMIIVTICSC
ISMMFESPFRRVMHAPTLQIAEYVFVIFMSIELNLKIMADGLFFTPTAVIRDFGGVMDIF
IYLVSLIFLCWMPQNVPAESGAQLLMVLRCLRPLRIFKLVPQMRKVVRELFSGFKEIFLV
SILLLTLMLVFASFGVQLFAGKLAKCNDPNIIRREDCNGIFRINVSVSKNLNLKLRPGEK
KPGFWVPRVWANPRNFNFDNVGNAMLALFEVLSLKGWVEVRDVIIHRVGPIHGIYIHVFV
FLGCMIGLTLFVGVVIANFNENKGTALLTVDQRRWEDLKSRLKIAQPLHLPPRPDNDGFR
AKMYDITQHPFFKRTIALLVLAQSVLLSVKWDVEDPVTVPLATMSVVFTFIFVLEVTMKI
IAMSPAGFWQSRRNRYDLLVTSLGVVWVVLHFALLNAYTYMMGACVIVFRFFSICGKHVT
LKMLLLTVVVSMYKSFFIIVGMFLLLLCYAFAGVVLFGTVKYGENINRHANFSSAGKAIT
VLFRIVTGEDWNKIMHDCMVQPPFCTPDEFTYWATDCGNYAGALMYFCSFYVIIAYIMLN
LLVAIIVENFSLFYSTEEDQLLSYNDLRHFQIIWNMVDDKREGVIPTFRVKFLLRLLRGR
LEVDLDKDKLLFKHMCYEMERLHNGGDVTFHDVLSMLSYRSVDIRKSLQLEELLAREQLE
YTIEEEVAKQTIRMWLKKCLKRIRAKQQQSCSIIHSLRESQQQELSRFLNPPSIETTQPS
EDTNANSQDNSMQPETSSQQQLLSPTLSDRGGSRQDAADAGKPQRKFGQWRLPSAPKPIS
HSVSSVNLRFGGRTTMKSVVCKMNPMTDAASCGSEVKKWWTRQLTVESDESGDDLLDI
NT seq 5217 nt   +upstreamnt  +downstreamnt
atgctcaaaaggaagcagagttccagggtggaagcccagccagtcactgactttggtcct
gatgagtctctgtcggataatgctgacatcctctggattaacaaaccatgggttcactct
ttgctgcgcatctgtgccatcatcagcgtcatttctgtttgtatgaatacgccaatgacc
ttcgagcactatcctccacttcagtatgtgaccttcactttggatacattattgatgttt
ctctacacggcagagatgatagcaaaaatgcacatccggggcattgtcaagggggatagt
tcctatgtgaaagatcgctggtgtgtttttgatggatttatggtcttttgcctttgggtt
tctttggtgctacaggtgtttgaaattgctgatatagttgatcagatgtcaccttggggc
atgttgcggattccacggccactgattatgatccgagcattccggatttatttccgattt
gaactgccaaggaccagaattacaaatattttaaagcgatcgggagaacaaatatggagt
gtttccatttttctacttttctttctacttctttatggaattttaggagttcagatgttt
ggaacatttacttatcactgtgttgtaaatgacacaaagccagggaatgtaacctggaat
agtttagctattccagacacacactgctcaccagagctagaagaaggctaccagtgccca
cctggatttaaatgcatggaccttgaagatctgggacttagcaggcaagagctgggctac
agtggctttaatgagataggaactagtatattcaccgtctatgaggccgcctcacaggaa
ggctgggtgttcctcatgtacagagcaattgacagctttccccgttggcgttcctacttc
tatttcatcactctcattttcttcctcgcctggcttgtgaagaacgtgtttattgctgtt
atcattgaaacatttgcagaaatcagagtacagtttcaacaaatgtggggatcgagaagc
agcactacctcaacagccaccacccagatgtttcatgaagatgctgctggaggttggcag
ctggtagctgtggatgtcaacaagccccagggacgcgccccagcctgcctccagaaaatg
atgcggtcatccgttttccacatgttcatcctgagcatggtgaccgtggacgtgatcgtg
gcggctagcaactactacaaaggagaaaacttcaggaggcagtacgacgagttctacctg
gcggaggtggcttttacagtactttttgatttggaagcacttctgaagatatggtgtttg
ggatttactggatatattagctcatctctccacaaattcgaactactactcgtaattgga
actactcttcatgtatacccagatctttatcattcacaattcacgtactttcaggttctc
cgagtagttcggctgattaagatttcacctgcattagaagactttgtgtacaagatattt
ggtcctggaaaaaagcttgggagtttggttgtatttactgccagcctcttgattgttatg
tcagcaattagtttgcagatgttctgctttgtcgaagaactggacagatttactacgttt
ccgagggcatttatgtccatgttccagatcctcacccaggaaggatgggtggacgtaatg
gaccaaactctaaatgctgtgggacatatgtgggcacccgtggttgccatctatttcatt
ctctatcatctttttgccactctgatcctcctgagtttgtttgttgctgttattttggac
aacttagaacttgatgaagacctaaagaagcttaaacaattaaagcaaagtgaagcaaat
gcggacaccaaagaaaagctccctttacgcctgcgaatctttgaaaaatttccaaacaga
cctcaaatggtgaaaatctcaaagcttccttcagattttacagttcctaaaatcagggag
agttttatgaagcagtttattgaccgccagcaacaggacacatgttgcctcctgagaagc
ctcccgaccacctcttcctcctcctgcgaccactccaaacgctcagcaattgaggacaac
aaatacatcgaccaaaaacttcgcaagtctgttttcagcatcagggcaaggaaccttctg
gaaaaggagaccgcagtcactaaaatcttaagagcttgcacccgacagcgcatgctgagc
ggatcatttgaggggcagcccgcaaaggagaggtcaatcctcagcgtgcagcatcatatc
cgccaagagcgcaggtcactaagacatggatcaaacagccagaggatcagcaggggaaaa
tctcttgaaactttgactcaagatcattccaatacagtgagatatagaaatgcacaaaga
gaagacagtgaaataaagatgattcaggaaaaaaaggagcaagcagagatgaaaaggaaa
gtgcaagaagaggaactcagagagaaccacccatacttcgataagccactgttcattgtc
gggcgagaacacaggttcagaaacttttgccgggtggtggtccgagcacgcttcaacgca
tctaaaacagaccctgtcacaggagctgtgaaaaatacaaagtaccatcaactttatgat
ttgctgggattggtcacttacctggactgggtcatgatcatcgtaaccatctgctcttgc
atttccatgatgtttgagtccccgtttcgaagagtcatgcatgcacctactttgcagatt
gctgagtatgtgtttgtgatattcatgagcattgagcttaatctgaagattatggcagat
ggcttatttttcactccaactgctgtcatcagggacttcggtggagtaatggacatattt
atatatcttgtgagcttgatatttctttgttggatgcctcaaaatgtacctgctgaatcg
ggagctcagcttctaatggtccttcggtgcctgagacctctgcgcatattcaaactggtg
ccccagatgaggaaagttgttcgagaacttttcagcggcttcaaggaaatttttttggtc
tccattcttttgctgacattaatgctcgtttttgcaagctttggagttcagctttttgct
ggaaaactggccaagtgcaatgatcccaacattattagaagggaagattgcaatggcata
ttcagaattaatgtcagtgtgtcaaagaacttaaatttaaaattgaggcctggagagaaa
aaacctggattttgggtgccccgtgtttgggcgaatcctcggaactttaatttcgacaat
gtgggaaacgctatgctggcgttgtttgaagttctctccttgaaaggctgggtggaagtg
agagatgttattattcatcgtgtggggccgatccatggaatctatattcatgtttttgta
ttcctgggttgcatgattggactgaccctttttgttggagtagttattgctaatttcaat
gaaaacaaggggacggctttgctgaccgtcgatcagagaagatgggaagacctgaagagc
cgactgaagatcgcacagcctcttcatcttccgcctcgcccggataatgatggttttaga
gctaaaatgtatgacataacccagcatccattttttaagaggacaatcgcattactcgtc
ctggcccagtcggtgttgctctctgtcaagtgggacgtcgaggacccggtgaccgtacct
ttggcaacaatgtcagttgttttcaccttcatctttgttctggaggttaccatgaagatc
atagcaatgtcgcctgctggcttctggcaaagcagaagaaaccgatacgatctcctggtg
acgtcgcttggcgttgtatgggtggtgcttcactttgccctcctgaatgcatatacttac
atgatgggcgcttgtgtgattgtatttaggtttttctccatctgtggaaaacatgtaacg
ctaaagatgctcctcttgacagtggtcgtcagcatgtacaagagcttctttatcatagta
ggcatgtttctcttgctgctgtgttacgcttttgctggagttgttttatttggtactgtg
aaatatggggagaatattaacaggcatgcaaatttttcttcggctggaaaagctattacc
gtactgttccgaattgtcacaggtgaagactggaacaagattatgcatgactgtatggtt
cagcctccgttttgtactccagatgaatttacatactgggcaacagactgtggaaattat
gctggggcacttatgtatttctgttcattttatgtcatcattgcctacatcatgctaaat
ctgcttgtagccataattgtggagaatttctccttgttttattccactgaggaggaccag
cttttaagttacaatgatcttcgccactttcaaataatatggaacatggtggatgataaa
agagagggggtgatccccacgttccgcgtcaagttcctgctgcggctactgcgtgggagg
ctggaggtggacctggacaaggacaagctcctgtttaagcacatgtgctacgaaatggag
aggctccacaatggcggcgacgtcaccttccatgatgtcctgagcatgctttcataccgg
tccgtggacatccggaagagcttgcagctggaggaactcctggcgagggagcagctggag
tacaccatagaggaggaggtggccaagcagaccatccgcatgtggctcaagaagtgcctg
aagcgcatcagagctaaacagcagcagtcgtgcagtatcatccacagcctgagagagagt
cagcagcaagagctgagccggtttctgaacccgcccagcatcgagaccacccagcccagt
gaggacacgaatgccaacagtcaggacaacagcatgcaacctgagacaagcagccagcag
cagctcctgagccccacgctgtcggatcgaggaggaagtcggcaagatgcagccgacgca
gggaaaccccagaggaaatttgggcagtggcgtctgccctcagccccaaaaccaataagc
cattcagtgtcctcagtcaacttacggtttggaggaaggacaaccatgaaatctgtcgtg
tgcaaaatgaaccccatgactgacgcggcttcctgcggttctgaagttaagaagtggtgg
acccggcagctgactgtggagagcgacgaaagtggggatgaccttctggatatttag

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