KEGG T01001: 1137

Homo sapiens (human): 1137

Entry

1137 CDS T01001

Gene name

CHRNA4, BFNC, EBN, EBN1, NACHR, NACHRA4, NACRA4

Definition

cholinergic receptor, nicotinic, alpha 4 (neuronal)

Orthology

K04806

nicotinic acetylcholine receptor alpha-4

Organism

hsa Homo sapiens (human)

Pathway

hsa04080	Neuroactive ligand-receptor interaction
hsa04725	Cholinergic synapse
hsa05033	Nicotine addiction

Disease

H00807

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)

Drug target

Mecamylamine:

D00611

Varenicline:

D06282 D08669

Acetylcholine:

D00999

Other:

D02202 D02204 D02364 D02839 D08138 D08935 D08987 D09367 D09368 D09382 D09383 D10111 D10112

Class

Environmental Information Processing; Signaling molecules and interaction; Neuroactive ligand-receptor interaction [PATH:hsa04080]
Organismal Systems; Nervous system; Cholinergic synapse [PATH:hsa04725]
Human Diseases; Substance dependence; Nicotine addiction [PATH:hsa05033]

SSDB

Motif

Pfam:

Neur_chan_memb Neur_chan_LBD DUF3119

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

P43681 B4DK78 Q4VAQ3 Q4VAQ5 Q59FV0

Structure

PDB:

2LLY

Position

20q13.2-q13.3

AA seq 627 aa
MELGGPGAPRLLPPLLLLLGTGLLRASSHVETRAHAEERLLKKLFSGYNKWSRPVANISD
VVLVRFGLSIAQLIDVDEKNQMMTTNVWVKQEWHDYKLRWDPADYENVTSIRIPSELIWR
PDIVLYNNADGDFAVTHLTKAHLFHDGRVQWTPPAIYKSSCSIDVTFFPFDQQNCTMKFG
SWTYDKAKIDLVNMHSRVDQLDFWESGEWVIVDAVGTYNTRKYECCAEIYPDITYAFVIR
RLPLFYTINLIIPCLLISCLTVLVFYLPSECGEKITLCISVLLSLTVFLLLITEIIPSTS
LVIPLIGEYLLFTMIFVTLSIVITVFVLNVHHRSPRTHTMPTWVRRVFLDIVPRLLLMKR
PSVVKDNCRRLIESMHKMASAPRFWPEPEGEPPATSGTQSLHPPSPSFCVPLDVPAEPGP
SCKSPSDQLPPQQPLEAEKASPHPSPGPCRPPHGTQAPGLAKARSLSVQHMSSPGEAVEG
GVRCRSRSIQYCVPRDDAAPEADGQAAGALASRNTHSAELPPPDQPSPCKCTCKKEPSSV
SPSATVKTRSTKAPPPHLPLSPALTRAVEGVQYIADHLKAEDTDFSVKEDWKYVAMVIDR
IFLWMFIIVCLLGTVGLFLPPWLAGMI

NT seq 1884 nt +upstreamnt +downstreamnt
atggagctagggggccccggagcgccgcggctgctgccgccgctgctgctgcttctgggg
accggcctcctgcgcgccagcagccatgtggagacccgggcccacgccgaggagcggctc
ctgaagaaactcttctccggttacaacaagtggtcccgacccgtggccaacatctcggac
gtggtcctcgtccgcttcggcctgtccatcgctcagctcattgacgtggatgagaagaac
cagatgatgaccacgaacgtatgggtgaagcaggagtggcacgactacaagctgcgctgg
gacccagctgactatgagaatgtcacctccatccgcatcccctccgagctcatctggcgg
ccggacatcgtcctctacaacaatgctgacggggacttcgcggtcacccacctgaccaag
gcccacctgttccatgacgggcgggtgcagtggactcccccggccatttacaagagctcc
tgcagcatcgacgtcaccttcttccccttcgaccagcagaactgcaccatgaaattcggc
tcctggacctacgacaaggccaagatcgacctggtgaacatgcacagccgcgtggaccag
ctggacttctgggagagtggcgagtgggtcatcgtggatgccgtgggcacctacaacacc
aggaagtacgagtgctgtgccgagatctacccggacatcacctatgccttcgtcatccgg
cggctgccgctcttctacaccatcaacctcatcatcccctgcctgctcatctcctgcctc
accgtgctggtcttctacctgccctccgagtgtggcgagaagatcacgctgtgcatctcc
gtgctgctgtcgctcaccgtcttcctgctgctcatcaccgagatcatcccgtccacctca
ctggtcatcccactcatcggcgagtacctgctgttcaccatgatcttcgtcaccctgtcc
atcgtcatcacggtcttcgtgctcaacgtgcaccaccgctcgccacgcacgcacaccatg
cccacctgggtacgcagggtcttcctggacatcgtgccacgcctgctcctcatgaagcgg
ccgtccgtggtcaaggacaattgccggcggctcatcgagtccatgcataagatggccagt
gccccgcgcttctggcccgagccagaaggggagccccctgccacgagcggcacccagagc
ctgcacccgccctcaccgtccttctgtgtccccctggatgtgccggctgagcctgggcct
tcctgcaagtcaccctccgaccagctccctcctcagcagcccctggaagctgagaaagcc
agcccccacccctcgcctggaccctgccgcccgccccacggcacccaggcaccagggctg
gccaaagccaggtccctcagcgtccagcacatgtccagccctggcgaagcggtggaaggc
ggcgtccggtgccggtctcggagcatccagtactgtgttccccgagacgatgccgccccc
gaggcagatggccaggctgccggcgccctggcctctcgcaacacccactcggctgagctc
ccacccccagaccagccctctccgtgcaaatgcacatgcaagaaggagccctcttcggtg
tccccgagcgccacggtcaagacccgcagcaccaaagcgccgcccccgcacctgcccctg
tcgccggccctgacccgggcggtggagggcgtccagtacattgcagaccacctgaaggcc
gaagacacagacttctcggtgaaggaggactggaagtacgtggccatggtcatcgaccgc
atcttcctctggatgttcatcatcgtctgcctgctggggacggtgggcctcttcctgccg
ccctggctggctggcatgatctag

All links

Ontology (5)   
   KEGG BRITE (5)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (4)   
   KEGG DISEASE (1)   
   OMIM (3)   
Drug (17)   
   KEGG DRUG (17)   
Genome (1)   
   KEGG GENOME (1)   
Gene (19)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (11)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (7)   
   UniProt (5)   
   RefSeq(pep) (2)   
DNA sequence (39)   
   RefSeq(nuc) (3)   
   GenBank (18)   
   EMBL (18)   
3D Structure (1)   
   PDB (1)   
Protein domain (3)   
   Pfam (3)   
All databases (99)   

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