KEGG   Homo sapiens (human): 1144Help
Entry
1144              CDS       T01001                                 

Gene name
CHRND, ACHRD, CMS2A, CMS3A, CMS3B, CMS3C, FCCMS, SCCMS
Definition
(RefSeq) cholinergic receptor nicotinic delta subunit
  KO
K04816  nicotinic acetylcholine receptor delta
Organism
hsa  Homo sapiens (human)
Pathway
hsa04080  Neuroactive ligand-receptor interaction
Disease
H00770  Congenital myasthenic syndrome
H00986  Multiple pterygium syndrome
Drug target
Acetylcholine (DG01133): D00999
Cytisine: D07770
Gantacurium chloride: D04303
Lobeline (DG01287): D02202 D02364 D08138
Mecamylamine (DG00252): D00611
Metocurine iodide: D00761
Nicotine (DG00994): D03365 D05156 D05157
Suxamethonium (DG00768): D00766 D02275
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04080 Neuroactive ligand-receptor interaction
    1144 (CHRND)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    1144 (CHRND)
Ion channels [BR:hsa04040]
 Ligand-gated channels
  Acetylcholine (nicotinic)
   1144 (CHRND)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Neur_chan_memb Neur_chan_LBD
Motif
Other DBs
NCBI-GeneID: 1144
NCBI-ProteinID: NP_000742
OMIM: 100720
HGNC: 1965
Ensembl: ENSG00000135902
Vega: OTTHUMG00000133261
Pharos: Q07001(Tclin)
UniProt: Q07001
Position
2q37.1
AA seq 517 aa AA seqDB search
MEGPVLTLGLLAALAVCGSWGLNEEERLIRHLFQEKGYNKELRPVAHKEESVDVALALTL
SNLISLKEVEETLTTNVWIEHGWTDNRLKWNAEEFGNISVLRLPPDMVWLPEIVLENNND
GSFQISYSCNVLVYHYGFVYWLPPAIFRSSCPISVTYFPFDWQNCSLKFSSLKYTAKEIT
LSLKQDAKENRTYPVEWIIIDPEGFTENGEWEIVHRPARVNVDPRAPLDSPSRQDITFYL
IIRRKPLFYIINILVPCVLISFMVNLVFYLPADSGEKTSVAISVLLAQSVFLLLISKRLP
ATSMAIPLIGKFLLFGMVLVTMVVVICVIVLNIHFRTPSTHVLSEGVKKLFLETLPELLH
MSRPAEDGPSPGALVRRSSSLGYISKAEEYFLLKSRSDLMFEKQSERHGLARRLTTARRP
PASSEQAQQELFNELKPAVDGANFIVNHMRDQNNYNEEKDSWNRVARTVDRLCLFVVTPV
MVVGTAWIFLQGVYNQPPPQPFPGDPYSYNVQDKRFI
NT seq 1554 nt NT seq  +upstreamnt  +downstreamnt
atggaggggccagtgctgacactggggctgctggctgccctggcggtgtgtggcagctgg
gggctgaacgaggaggagcggctgatccggcacctgtttcaagagaagggctacaacaag
gagctccggcccgtggcacacaaagaggagagtgtggacgttgccctggccctcacactc
tccaacctcatctccctgaaagaagttgaggagaccctcactaccaatgtgtggatagag
cacggctggacagacaaccggctgaagtggaatgctgaagaatttggaaacatcagtgtc
ctgcgcctccccccggacatggtgtggctcccagagattgtgctggagaacaacaatgac
ggctccttccagatctcctactcctgcaacgtgcttgtctaccactacggcttcgtgtac
tggctgccacctgccatcttccgctcctcctgccccatctctgtcacctatttccccttc
gactggcagaactgctccctcaagttcagttccctcaagtatacggccaaagagatcacc
ctgagcctgaaacaggatgccaaggagaaccgcacctaccccgtggagtggatcatcatt
gatcctgaaggcttcacagagaacggggagtgggagatagtccaccggccggccagggtc
aacgtggaccccagagcccctctggacagccccagccgccaggacatcaccttctacctc
atcatccgccgcaagcccctcttctacatcatcaacatcctggtgccctgcgtgctcatc
tccttcatggtcaacctggtcttctacctaccggctgacagtggtgagaagacatcagtg
gccatctcggtgctcctggctcagtctgtcttcctgctgctcatctccaagcgtctgcct
gccacatccatggccatcccccttatcggcaagttcctgctcttcggcatggtgctggtc
accatggttgtggtgatctgtgtcatcgtgctcaacatccacttccgaacacccagcacc
catgtgctgtctgagggggtcaagaagctcttcctggagaccctgccggagctcctgcac
atgtcccgcccagcagaggatggacccagccctggggccctggtgcggaggagcagctcc
ctgggatacatctccaaggccgaggagtacttcctgctcaagtcccgcagtgacctcatg
ttcgagaagcagtcagagcggcatgggctggccaggcgcctcaccactgcacgccggccc
ccagcaagctctgagcaggcccagcaggaactcttcaatgagctgaagccagctgtggat
ggggcaaacttcattgttaaccacatgagggaccagaacaattacaatgaggagaaagac
agctggaaccgagtggcccgcacagtggaccgcctctgcctgtttgtggtgacgcctgtc
atggtggtgggcacagcctggatcttcctgcagggcgtttacaaccagccaccaccccag
ccttttcctggggacccctactcctacaacgtgcaggacaagcgcttcatctag

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