KEGG   Homo sapiens (human): 285175
Entry
285175            CDS       T01001                                 
Symbol
UNC80, C2orf21, UNC-80
Name
(RefSeq) unc-80 homolog, NALCN channel complex subunit
  KO
K24015  protein unc-80
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]
    285175 (UNC80)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Sodium leak channel, non-selective
   285175 (UNC80)
SSDB
Motif
Pfam: UNC80_C UNC80 UNC80_N
Other DBs
NCBI-GeneID: 285175
NCBI-ProteinID: NP_115893
OMIM: 612636
HGNC: 26582
Ensembl: ENSG00000144406
UniProt: Q8N2C7
Structure
LinkDB
Position
2:209771832..209999296
AA seq 3258 aa
MVKRKSSEGQEQDGGRGIPLPIQTFLWRQTSAFLRPKLGKQYEASCVSFERVLVENKLHG
LSPALSEAIQSISRWELVQAALPHVLHCTATLLSNRNKLGHQDKLGVAETKLLHTLHWML
LEAPQDCNNERFGGTDRGSSWGGSSSAFIHQVENQGSPGQPCQSSSNDEEENNRRKIFQN
SMATVELFVFLFAPLVHRIKESDLTFRLASGLVIWQPMWEHRQPGVSGFTALVKPIRNII
TAKRSSPINSQSRTCESPNQDARHLEGLQVVCETFQSDSISPKATISGCHRGNSFDGSLS
SQTSQERGPSHSRASLVIPPCQRSRYATYFDVAVLRCLLQPHWSEEGTQWSLMYYLQRLR
HMLEEKPEKPPEPDIPLLPRPRSSSMVAAAPSLVNTHKTQDLTMKCNEEEKSLSSEAFSK
VSLTNLRRSAVPDLSSDLGMNIFKKFKSRKEDRERKGSIPFHHTGKRRPRRMGVPFLLHE
DHLDVSPTRSTFSFGSFSGLGEDRRGIEKGGWQTTILGKLTRRGSSDAATEMESLSARHS
HSHHTLVSDLPDPSNSHGENTVKEVRSQISTITVATFNTTLASFNVGYADFFNEHMRKLC
NQVPIPEMPHEPLACANLPRSLTDSCINYSYLEDTEHIDGTNNFVHKNGMLDLSVVLKAV
YLVLNHDISSRICDVALNIVECLLQLGVVPCVEKNRKKSENKENETLEKRPSEGAFQFKG
VSGSSTCGFGGPAVSGAGDGGGEEGGGGDGGGGGGDGGGGGGGGGGPYEKNDKNQEKDES
TPVSNHRLALTMLIKIVKSLGCAYGCGEGHRGLSGDRLRHQVFRENAQNCLTKLYKLDKM
QFRQTMRDYVNKDSLNNVVDFLHALLGFCMEPVTDNKAGFGNNFTTVDNKSTAQNVEGII
VSAMFKSLITRCASTTHELHSPENLGLYCDIRQLVQFIKEAHGNVFRRVALSALLDSAEK
LAPGKKVEENEQESKPAGSKRSEAGSIVDKGQVSSAPEECRSFMSGRPSQTPEHDEQMQG
ANLGRKDFWRKMFKSQSAASDTSSQSEQDTSECTTAHSGTTSDRRARSRSRRISLRKKLK
LPIGKRNWLKRSSLSGLADGVEDLLDISSVDRLSFIRQSSKVKFTSAVKLSEGGPGSGME
NGRDEEENFFKRLGCHSFDDHLSPNQDGGKSKNVVNLGAIRQGMKRFQFLLNCCEPGTIP
DASILAAALDLEAPVVARAALFLECARFVHRCNRGNWPEWMKGHHVNITKKGLSRGRSPI
VGNKRNQKLQWNAAKLFYQWGDAIGVRLNELCHGESESPANLLGLIYDEETKRRLRKEDE
EEDFLDDSTVNPSKCGCPFALKMAACQLLLEITTFLRETFSCLPRPRTEPLVDLESCRLR
LDPELDRHRYERKISFAGVLDENEDSKDSLHSSSHTLKSDAGVEEKKEGSPWSASEPSIE
PEGMSNAGAEENYHRNMSWLHVMILLCNQQSFICTHVDYCHPHCYLHHSRSCARLVRAIK
LLYGDSVDSLRESSNISSVALRGKKQKECSDKSCLRTPSLKKRVSDANLEGKKDSGMLKY
IRLQVMSLSPAPLSLLIKAAPILTEEMYGDIQPAAWELLLSMDEHMAGAAAAMFLLCAVK
VPEAVSDMLMSEFHHPETVQRLNAVLKFHTLWRFRYQVWPRMEEGAQQIFKIPPPSINFT
LPSPVLGMPSVPMFDPPWVPQCSGSVQDPINEDQSKSFSARAVSRSHQRAEHILKNLQQE
EEKKRLGREASLITAIPITQEACYEPTCTPNSEPEEEVEEVTNLASRRLSVSPSCTSSTS
HRNYSFRRGSVWSVRSAVSAEDEEHTTEHTPNHHVPQPPQAVFPACICAAVLPIVHLMED
GEVREDGVAVSAVAQQVLWNCLIEDPSTVLRHFLEKLTISNRQDELMYMLRKLLLNIGDF
PAQTSHILFNYLVGLIMYFVRTPCEWGMDAISATLTFLWEVVGYVEGLFFKDLKQTMKKE
QCEVKLLVTASMPGTKTLVVHGQNECDIPTQLPVHEDTQFEALLKECLEFFNIPESQSTH
YFLMDKRWNLIHYNKTYVRDIYPFRRSVSPQLNLVHMHPEKGQELIQKQVFTRKLEEVGR
VLFLISLTQKIPTAHKQSHVSMLQEDLLRLPSFPRSAIDAEFSLFSDPQAGKELFGLDTL
QKSLWIQLLEEMFLGMPSEFPWGDEIMLFLNVFNGALILHPEDSALLRQYAATVINTAVH
FNHLFSLSGYQWILPTMLQVYSDYESNPQLRQAIEFACHQFYILHRKPFVLQLFASVAPL
LEFPDAANNGPSKGVSAQCLFDLLQSLEGETTDILDILELVKAEKPLKSLDFCYGNEDLT
FSISEAIKLCVTVVAYAPESFRSLQMLMVLEALVPCYLQKLKRQTSQVETVPAAREEIAA
TAALATSLQALLYSVEVLTRPMTAPQMSRCDQGHKGTTTANHTMSSGVNTRYQEQGAKLH
FIRENLHLLEEGQGIPREELDERIAREEFRRPRESLLNICTEFYKHCGPRLKILQNLAGE
PRVIALELLDVKSHMRLAEIAHSLLKLAPYDTQTMESRGLRRYIMEMLPITDWTAEAVRP
ALILILKRLDRMFNKIHKMPTLRRQVEWEPASNLIEGVCLTLQRQPIISFLPHLRSLINV
CVNLVMGVVGPSSVADGLPLLHLSPYLSPPLPFSTAVVRLVALQIQALKEDFPLSHVISP
FTNQERREGMLLNLLIPFVLTVGSGSKDSPWLEQPEVQLLLQTVINVLLPPRIISTSRSK
NFMLESSPAHCSTPGDAGKDLRREGLAESTSQAAYLALKVILVCFERQLGSQWYWLSLQV
KEMALRKVGGLALWDFLDFIVRTRIPIFVLLRPFIQCKLLAQPAENHEELSARQHIADQL
ERRFIPRPLCKSSLIAEFNSELKILKEAVHSGSAYQGKTSISTVGTSTSAYRLSLATMSR
SNTGTGTVWEQDSEPSQQASQDTLSRTDEEDEENDSISMPSVVSEQEAYLLSAIGRRRFS
SHVSSMSVPQAEVGMLPSQSEPNVLDDSQGLAAEGSLSRVASIQSEPGQQNLLVQQPLGR
KRGLRQLRRPLLSRQKTQTEPRNRQGARLSTTRRSIQPKTKPSADQKRSVTFIEAQPEPA
AAPTDALPATGQLQGCSPAPSRKPEAMDEPVLTSSPAIVVADLHSVSPKQSENFPTEEGE
KEEDTEAQGATAHSPLSAQLSDPDDFTGLETSSLLQHGDTVLHISEENGMENPLLSSQFT
FTPTELGKTDAVLDESHV
NT seq 9777 nt   +upstreamnt  +downstreamnt
atggtgaagaggaagagctccgagggccaggagcaggacggcggccgcggcatccccctg
cccatccagaccttcctgtggcggcaaaccagtgcatttttgaggcccaaactggggaag
caatatgaagcttcttgtgtgtcctttgagcgagtgttggtagaaaacaagctgcatggc
ctctctccagctctctctgaagccatccagagcatttccagatgggaactggtgcaagct
gctttgcctcatgtcctccactgcactgcaaccctgctttcaaaccgaaacaagctaggc
caccaggataaattgggtgttgctgagacaaagctccttcacactctacactggatgctt
ctggaggccccccaggactgcaacaatgagcggtttgggggtacagaccgaggctccagc
tggggtggaagcagcagtgctttcatccaccaggttgaaaaccagggttctccagggcag
ccttgccaaagcagctctaatgacgaagaagagaacaaccgaagaaagatcttccagaac
tccatggctactgtggagctcttcgtgtttctgtttgctcccctggtacacaggatcaag
gaatctgacctcaccttccgtctggccagtgggcttgttatatggcagcccatgtgggaa
cacagacagcccggagtctctggctttaccgcactggtgaagcccatcaggaacatcatt
acagctaagagaagttctcctatcaacagtcaaagccggacctgtgaatcaccaaatcaa
gatgcaagacacttagagggactccaggtggtttgtgaaacattccagtctgattccatc
tcacccaaggccaccatttcaggctgtcaccgaggaaactcctttgatggaagtctgtcc
tcccaaacttcccaggaaagaggcccatcacattccagggcctctcttgtgatacctccg
tgccaaaggtcccgctatgccacctactttgacgttgctgttctgcgctgcctacttcag
ccccattggtctgaggaaggcactcagtggtctctgatgtactatctacaaaggctgcga
cacatgttggaagagaagccagaaaagcctccggagccagatattcctctcctgcccaga
cccaggagtagctccatggtggcagcagctccctcactagtgaacacccacaaaacccaa
gatctcaccatgaagtgtaacgaggaggaaaaatctcttagctctgaggccttttccaag
gtttcactgaccaatctgcgtagatctgcagtcccagatctttcttcagacctgggcatg
aatatttttaaaaagttcaagagccgcaaagaagaccgagagaggaaaggctccattcca
ttccaccacacaggcaagaggaggccacggagaatgggagtgcccttcctgcttcacgag
gaccacctggatgtgtcccccacgcgcagcacattctcctttggaagtttctctgggctg
ggagaagacaggcgaggaattgagaaaggaggctggcaaaccaccattttagggaaattg
acccggcgaggcagttcagatgcagccactgagatggagagtctgagcgccaggcattcc
cactcccatcacaccctggtaagcgacctgccggacccctccaacagccatggagaaaac
accgtcaaggaagtgcgatctcagatctccaccatcacagttgcgaccttcaataccact
ttggcgtcattcaacgtaggctatgcagactttttcaatgagcatatgaggaaactctgc
aaccaggtgcctatcccggagatgccacatgaacctctggcatgtgctaacctacctcga
agcctcacagactcctgcataaactacagctacctagaggacacagaacatattgacggg
accaataactttgtccacaagaatggaatgcttgatctttctgtagttctgaaggctgtt
tatcttgtccttaatcatgacatcagctctcgtatctgtgacgtggcgctaaacattgtg
gaatgcttgcttcaacttggtgtggtgccctgtgtagaaaagaatagaaagaagagtgaa
aacaaggaaaatgagaccttggaaaagaggccaagtgagggagctttccaattcaaagga
gtatctggaagttccacctgtggattcggaggccctgctgttagtggagctggagatggt
ggaggagaagaaggaggaggtggagatggaggaggtggaggaggtgatggaggaggaggt
ggaggaggtggaggcggcccttatgagaagaatgataagaaccaagagaaggatgaaagt
acacctgtaagcaaccataggcttgctctaacaatgctcatcaaaatagtgaagtctttg
ggatgtgcctatggttgtggtgaaggacaccgagggctctctggagatcgtctgagacac
caggtattccgagagaatgcccagaactgcctcactaagctatacaagctagataagatg
cagttccgacaaaccatgagggactatgtgaacaaggactctctcaataatgtagtggac
ttcttgcatgctttgctaggattttgtatggagccggtcactgacaacaaggctgggttt
ggaaataacttcaccacagtggacaacaaatccacagcccaaaatgtggaaggcattatc
gtcagcgccatgtttaaatccctcatcacacgctgcgcttcaaccacacatgaattgcac
agccctgagaatctgggactgtattgtgacattcgtcagctggtccagtttatcaaagag
gctcatgggaatgtcttcaggagagtggccctcagcgctctgcttgacagtgccgagaag
ttagcaccagggaaaaaggtggaggagaatgaacaggaatctaagcctgcaggcagtaaa
aggtcagaggcgggaagcattgtggataaaggccaggtatcctctgcacctgaggaatgt
cgcagcttcatgtctggtcgcccctcacagactccagagcacgatgaacaaatgcaagga
gccaacttggggcggaaagatttctggcgtaagatgttcaagtcccagagtgcagcaagt
gacaccagcagccagtctgaacaggacacttcagaatgcacgactgcccactcagggacc
acctctgaccgacgtgcccgctcacgatcccgcagaatttccctccgaaagaagcttaaa
ctccccataggtaaaaggaactggctgaagagatcatccctctcaggcctggcagatggt
gtggaggacctcctggacattagctctgtggaccgactctctttcatcaggcaaagctcc
aaggtcaaattcactagtgctgtgaagctttctgaaggtgggccaggaagtggcatggaa
aatggaagagatgaagaggagaatttcttcaagcgtcttggttgccacagttttgatgat
catctctctcccaaccaagatggtggaaaaagcaaaaacgtggtgaatcttggagcaatc
cgacaaggcatgaaacgcttccaatttctgttaaactgctgtgagccagggacaattcct
gatgcctccatcctagcagctgccttggatctagaagcccctgtggtggccagagcagcc
ttgttcctggaatgtgctcgttttgttcaccgctgcaaccgtggcaactggccagagtgg
atgaaagggcaccacgtgaacatcaccaagaaaggactttcccggggacgctctcccatt
gtgggcaacaagcgaaaccagaagctgcagtggaatgcagccaagctcttctaccaatgg
ggagacgcaattggcgtccgattgaatgagctgtgccacggggaaagtgagagcccagcc
aacctgctgggtctcatttacgatgaagagaccaagaggagacttagaaaggaggatgag
gaggaagactttttagatgacagtactgtgaacccctctaaatgcggttgcccctttgcc
ttgaagatggcagcatgtcagcttcttctggagattaccaccttcctgcgagagaccttt
tcttgcctgcccagacctcgcactgagcctctggtggacttggagagctgcagacttcgt
ttggatcccgagttggaccggcacagatatgagaggaagatcagctttgctggggtcctg
gacgaaaatgaagactcaaaagattctctccacagcagcagccacactctcaaatcagat
gcaggagtcgaggagaagaaagaagggagtccttggagtgcaagcgagcccagcattgag
ccagagggaatgagtaatgccggcgcggaggagaattaccacagaaacatgtcgtggctt
catgtgatgatcttgctgtgcaatcagcagagtttcatctgcactcacgttgactactgc
catccccactgctacctgcaccacagccgctcctgtgcccgactggtcagagccatcaag
ctactctatggagacagtgtggactccctgagggaaagcagcaacatcagcagtgtggct
ctccggggcaagaaacagaaagaatgctcagataagtcatgcctgaggacaccttctcta
aagaagagagtttcagatgccaatctggaaggaaaaaaagattccggaatgctgaagtac
atcagacttcaggtgatgagcttgtcgcctgctcccttatctctgttaatcaaggcagca
ccaattctgacagaggagatgtacggagacatccagccagctgcctgggagctcctgctc
agcatggatgagcacatggcaggggcagcagctgccatgttcctgctgtgtgcagtgaag
gtgcctgaggccgtgtccgacatgctgatgtcagagttccaccacccggagactgtgcag
aggctgaacgctgtcctcaagttccacacgctctggaggtttcgctatcaggtctggccc
cggatggaggaaggggcacagcagatttttaagattccgcctcccagtatcaatttcacc
cttccctcgccggtgcttggaatgccatccgtcccaatgtttgacccaccgtgggttcct
cagtgcagcgggagtgtccaggaccccattaatgaagaccagtctaaatccttttcagcc
cgggctgtgtcccgctcccatcaaagggcagaacacatcttaaagaacttgcagcaggag
gaagaaaagaaacgacttggtagagaagccagcctcatcactgccatccccatcacccag
gaggcttgctatgagcccacatgcacgcccaactcagaaccggaagaagaagtagaagaa
gtcaccaatctggcatcccgtcgactgtctgtgagtccatcctgcacctccagcacttcc
cacaggaattattccttccgccgcgggtcagtctggtcagtgcgttcagccgtcagtgct
gaagatgaggaacataccactgaacacacgccgaaccaccatgtgcctcagcccccacaa
gcagtgttcccagcatgcatctgtgcagcagtacttcccattgttcatctgatggaggat
ggtgaggtgcgggaagatggagtagcagtgagtgctgtggctcaacaagtcttatggaac
tgtctaattgaagatccatcaacggttcttcgacattttctggaaaaactgaccatcagc
aatagacaagatgagttaatgtacatgctgcgcaaacttctcttgaatattggagacttt
cctgctcagacatctcacatcctattcaactatttggtaggattaatcatgtactttgtg
cggaccccctgcgagtgggggatggatgccatttcagccaccctgacattcctgtgggag
gtggtgggttacgtggagggcctcttcttcaaggatctcaagcagacgatgaagaaggag
cagtgtgaggtgaagctcctggtgaccgcttcaatgccaggtactaaaaccttggtagtt
catggacagaatgagtgcgatatcccaacccagttaccagtccatgaagacactcaattt
gaagccctgttgaaggagtgtctggagttttttaatatcccagaatcccagtcaacacat
tattttcttatggataaacgatggaaccttatccactacaataagacctatgttcgagat
atttatcctttccggaggtcagtatctccccagctgaatcttgtacatatgcatccagag
aagggacaggagctcattcagaaacaggtgttcacccgaaagctggaagaagtagggcgg
gtgttgtttctcatctccctaacccagaagatccccacagcccacaaacagtcccacgtc
tccatgcttcaggaagacctcctccgcctgccctcattccctcgtagtgctattgatgct
gagttttcactcttcagtgatcctcaagctggaaaggaactgtttggcctcgacactctt
cagaaaagcttgtggatccagctgctggaggaaatgttcctgggcatgccgagcgagttt
ccatggggagacgaaatcatgcttttcctcaacgtttttaacggggctctgatcctccac
ccggaagacagtgccctgctcaggcagtatgctgccaccgtcatcaacaccgcggtgcac
ttcaaccacctcttctctctcagcggctaccagtggattctccccaccatgctgcaggtg
tactccgactatgaaagcaatccccagctgcgtcaagccatcgaatttgcctgtcaccag
ttctatattctacaccggaagccctttgtgctccagctgtttgctagtgtggcccctctc
ctggaatttcctgatgctgccaataatgggcccagcaaaggtgtgtcagctcagtgcctg
tttgacttgctgcagtccctagagggagagaccaccgacatattagacatcttagagctg
gtcaaagctgagaagcctctcaagtcattagatttctgctatggaaacgaagatctgaca
ttttctatcagtgaagccattaagctctgtgtcactgtggtggcgtatgctcccgaatca
ttcagaagtcttcagatgctgatggtcttagaagccttagttccatgttacctacaaaag
ctaaagaggcagacatcacaggtggagacagtacctgctgcccgagaggagattgcggcc
actgctgctcttgcgacgtccctacaggcccttttgtacagtgtagaggtcctcaccagg
cccatgacagccccacagatgagcaggtgtgaccaaggtcataagggaaccaccacagcc
aatcacaccatgtcgtctggggtgaacaccaggtaccaggaacaaggagccaaactgcac
tttatcagggaaaaccttcatttactggaggaagggcaaggcattcccagagaggaactg
gatgaacgaattgctcgggaagagttcagaagaccccgggagtccttactgaatatttgc
actgagttctataagcactgtgggccacggctgaagatcttgcaaaatctggctggggag
cctcgggtcattgccttggaactgctggatgtgaagtctcacatgaggttggcagaaatt
gcacactcccttctgaagctggcaccatatgacactcagacaatggagagtcgtgggctt
cggcgctacatcatggagatgctacccattactgactggacagctgaggcagtgaggccg
gccctcatcctcattttaaaaagattggatagaatgttcaacaaaattcataagatgcct
actttgaggcgacaggttgagtgggagcctgccagcaatttgattgaaggggtttgtttg
acacttcagaggcagccaatcatatccttcctgcctcaccttaggtcactgatcaatgtc
tgtgtcaatctggtgatgggagtggtaggaccttccagtgttgctgatggattacccctt
cttcatctcagcccttatctctcaccacctctgcccttcagcacagctgttgtccggctt
gtagcattgcagatacaggctttaaaagaagattttcctttaagccatgtgatctcccca
ttcaccaatcaagagcgaagggaggggatgcttttaaatctgctcatcccatttgtgctc
acagtaggatctggaagcaaagatagcccatggctggagcagcctgaggtgcagctgctg
ctgcagacagtcatcaatgtactcctcccaccgcggatcatcagcacatccaggagcaag
aacttcatgttagagagctccccagcccactgctccacccctggggatgcggggaaagac
ttgcgcagggaagggctggctgagtccaccagccaagcagcatacttggcgctgaaggtg
attctcgtctgctttgagaggcagctcggaagccagtggtactggctgagcctccaggtg
aaggagatggctctgcggaaggtgggaggcctggccctttgggatttcctcgacttcatc
gtgcggacccgaatacccatctttgtgcttttgcgccctttcatccagtgcaagctgctg
gcccaaccagcagagaatcatgaagagctttccgcccggcaacatattgccgaccagctg
gagcggcgcttcataccacgccctttgtgtaagagctcgctcattgctgagttcaacagt
gaactaaaaattctaaaagaggcagttcatagtggatcagcctaccaaggcaagacatcc
atcagtaccgtgggcacctccacctctgcttaccgcctgagcttggccaccatgtcccgc
tctaacacgggcacgggcactgtctgggagcaggacagtgagccatcccagcaggcttcg
caggacaccctgagtcggactgatgaggaagatgaggaaaatgactctataagcatgccc
agcgtggtaagtgaacaagaagcttacctcctgagtgccattggaaggaggcgattctcc
agccatgtctccagcatgtctgtacctcaggctgaggtgggcatgctacccagccagagt
gaacctaatgtcctcgatgactcccagggcctggccgccgagggcagcctctctagggtg
gcaagtatacagagtgaacctggtcaacagaacctccttgttcagcagccgctggggagg
aagaggggcctgaggcagctaagacgtcctctactatcacgtcagaaaactcagactgaa
cccagaaatcgccaaggggctcggctgtcaaccactcgcaggagcattcaacctaaaacg
aagccgtctgcggatcagaaacgatctgtgaccttcattgaggctcagccagagccagca
gctgccccaacagatgcgcttcctgcaacaggccaactacagggctgtagcccagcccct
tctaggaaaccagaagcaatggacgaaccagtcctcacatcttctcccgccatagttgtt
gcggatctccacagcgtgtctcccaagcagagtgagaacttccccactgaagaaggagaa
aaggaggaggacacagaagcacaaggtgctactgcacacagtccactctctgcccaactc
tctgaccctgatgacttcacaggcctcgagacatccagcctcctacagcatggagacact
gtccttcatatcagtgaggaaaatggcatggagaacccgctactatctagtcagttcacc
tttactcccactgagctggggaaaacggatgcagtattagatgagtctcatgtttaa

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