LOCUS       NM_000749               2347 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens cholinergic receptor nicotinic beta 3 subunit
            (CHRNB3), transcript variant 1, mRNA.
ACCESSION   NM_000749
VERSION     NM_000749.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2347)
  AUTHORS   Wen,L., Han,H., Liu,Q., Su,K., Yang,Z., Cui,W., Yuan,W., Ma,Y.,
            Fan,R., Chen,J., Jiang,K., Jiang,X., Payne,T.J., Wang,J. and
            Li,M.D.
  TITLE     Significant association of the CHRNB3-CHRNA6 gene cluster with
            nicotine dependence in the Chinese Han population
  JOURNAL   Sci Rep 7 (1), 9745 (2017)
   PUBMED   28851948
  REMARK    GeneRIF: This study is the first showing that CHRNB3/A6 are highly
            associated with nicotine dependence in a large Chinese Han sample.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2347)
  AUTHORS   Jain,A., Kuryatov,A., Wang,J., Kamenecka,T.M. and Lindstrom,J.
  TITLE     Unorthodox Acetylcholine Binding Sites Formed by alpha5 and beta3
            Accessory Subunits in alpha4beta2* Nicotinic Acetylcholine
            Receptors
  JOURNAL   J Biol Chem 291 (45), 23452-23463 (2016)
   PUBMED   27645992
  REMARK    GeneRIF: This study shows that unorthodox acetylcholine binding
            sites can form at the alpha5/alpha4 and beta3/alpha4 interfaces in
            (alpha4beta2)2alpha5 and (alpha4beta2)2beta3 nicotinic
            acetylcholine receptors (nAChRs) and at the alpha4/alpha5 in
            (beta2alpha4)2alpha5 nAChRs.
REFERENCE   3  (bases 1 to 2347)
  AUTHORS   Kamens,H.M., Corley,R.P., Richmond,P.A., Darlington,T.M.,
            Dowell,R., Hopfer,C.J., Stallings,M.C., Hewitt,J.K., Brown,S.A. and
            Ehringer,M.A.
  TITLE     Evidence for Association Between Low Frequency Variants in
            CHRNA6/CHRNB3 and Antisocial Drug Dependence
  JOURNAL   Behav Genet 46 (5), 693-704 (2016)
   PUBMED   27085880
  REMARK    GeneRIF: More low frequency variants in the CHRNA6/CHRNB3 gene
            region were observed in cases compared to controls.
REFERENCE   4  (bases 1 to 2347)
  AUTHORS   Wen,L., Yang,Z., Cui,W. and Li,M.D.
  TITLE     Crucial roles of the CHRNB3-CHRNA6 gene cluster on chromosome 8 in
            nicotine dependence: update and subjects for future research
  JOURNAL   Transl Psychiatry 6 (6), e843 (2016)
   PUBMED   27327258
  REMARK    GeneRIF: To gain a better understanding of the pathological
            processes underlying ND and ND-related behaviors and to promote the
            development of effective smoking cessation therapies, we here
            present the most recent studies concerning the genetic effects of
            the CHRNB3-CHRNA6 gene cluster in ND.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2347)
  AUTHORS   Kamens,H.M., Miyamoto,J., Powers,M.S., Ro,K., Soto,M., Cox,R.,
            Stitzel,J.A. and Ehringer,M.A.
  TITLE     The beta3 subunit of the nicotinic acetylcholine receptor:
            Modulation of gene expression and nicotine consumption
  JOURNAL   Neuropharmacology 99, 639-649 (2015)
   PUBMED   26318101
  REMARK    GeneRIF: Data provide evidence that the protective genetic variant
            at rs6474413 identified in human genetic studies reduces gene
            expression and that decreased beta3 gene expression in mice reduces
            nicotine intake
REFERENCE   6  (bases 1 to 2347)
  AUTHORS   Elliott,K.J., Ellis,S.B., Berckhan,K.J., Urrutia,A.,
            Chavez-Noriega,L.E., Johnson,E.C., Velicelebi,G. and Harpold,M.M.
  TITLE     Comparative structure of human neuronal alpha 2-alpha 7 and beta
            2-beta 4 nicotinic acetylcholine receptor subunits and functional
            expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and
            beta 4 subunits
  JOURNAL   J Mol Neurosci 7 (3), 217-228 (1996)
   PUBMED   8906617
REFERENCE   7  (bases 1 to 2347)
  AUTHORS   Green,W.N. and Millar,N.S.
  TITLE     Ion-channel assembly
  JOURNAL   Trends Neurosci 18 (6), 280-287 (1995)
   PUBMED   7571003
  REMARK    Review article
REFERENCE   8  (bases 1 to 2347)
  AUTHORS   Koyama,K., Sudo,K. and Nakamura,Y.
  TITLE     Mapping of the human nicotinic acetylcholine receptor beta 3 gene
            (CHRNB3) within chromosome 8p11.2
  JOURNAL   Genomics 21 (2), 460-461 (1994)
   PUBMED   8088849
REFERENCE   9  (bases 1 to 2347)
  AUTHORS   Willoughby,J.J., Ninkina,N.N., Beech,M.M., Latchman,D.S. and
            Wood,J.N.
  TITLE     Molecular cloning of a human neuronal nicotinic acetylcholine
            receptor beta 3-like subunit
  JOURNAL   Neurosci Lett 155 (2), 136-139 (1993)
   PUBMED   7690916
REFERENCE   10 (bases 1 to 2347)
  AUTHORS   Anand,R. and Lindstrom,J.
  TITLE     Chromosomal localization of seven neuronal nicotinic acetylcholine
            receptor subunit genes in humans
  JOURNAL   Genomics 13 (4), 962-967 (1992)
   PUBMED   1505988
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090739.13, AC103843.3 and AC087533.7.
            
            On May 17, 2019 this sequence version replaced NM_000749.4.
            
            Summary: The nicotinic acetylcholine receptors (nAChRs) are members
            of a superfamily of ligand-gated ion channels that mediate fast
            signal transmission at synapses. The nAChRs are (hetero)pentamers
            composed of homologous subunits. The subunits that make up the
            muscle and neuronal forms of nAChRs are encoded by separate genes
            and have different primary structure. There are several subtypes of
            neuronal nAChRs that vary based on which homologous subunits are
            arranged around the central channel. They are classified as
            alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a
            pair of adjacent cysteines as part of the presumed acetylcholine
            binding site. Subunits lacking these cysteine residues are
            classified as beta-subunits (Groot Kormelink and Luyten, 1997
            [PubMed 9009220]). Elliott et al. (1996) [PubMed 8906617] stated
            that the proposed structure for each subunit is a conserved
            N-terminal extracellular domain followed by 3 conserved
            transmembrane domains, a variable cytoplasmic loop, a fourth
            conserved transmembrane domain, and a short C-terminal
            extracellular region.[supplied by OMIM, Apr 2010].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.105406.1,
                                           SRR1803616.72644.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465402 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000289957.3/ ENSP00000289957.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-233               AC090739.13        2405-2637           c
            234-385             AC103843.3         25143-25294         c
            386-430             AC103843.3         23577-23621         c
            431-540             AC103843.3         3308-3417           c
            541-1423            AC103843.3         1462-2344           c
            1424-2347           AC087533.7         138787-139710       c
FEATURES             Location/Qualifiers
     source          1..2347
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.21"
     gene            1..2347
                     /gene="CHRNB3"
                     /note="cholinergic receptor nicotinic beta 3 subunit"
                     /db_xref="GeneID:1142"
                     /db_xref="HGNC:HGNC:1963"
                     /db_xref="MIM:118508"
     exon            1..233
                     /gene="CHRNB3"
                     /inference="alignment:Splign:2.1.0"
     CDS             182..1558
                     /gene="CHRNB3"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; cholinergic receptor, nicotinic, beta
                     polypeptide 3; neuronal acetylcholine receptor subunit
                     beta-3; acetylcholine receptor, neuronal nicotinic, beta-3
                     subunit; acetylcholine receptor, nicotinic, beta 3
                     (neuronal); cholinergic receptor, nicotinic, beta 3
                     (neuronal); cholinergic receptor, nicotinic beta 3"
                     /codon_start=1
                     /product="neuronal acetylcholine receptor subunit beta-3
                     isoform 1 precursor"
                     /protein_id="NP_000740.1"
                     /db_xref="CCDS:CCDS6134.1"
                     /db_xref="GeneID:1142"
                     /db_xref="HGNC:HGNC:1963"
                     /db_xref="MIM:118508"
                     /translation="MLPDFMLVLIVLGIPSSATTGFNSIAENEDALLRHLFQGYQKWV
                     RPVLHSNDTIKVYFGLKISQLVDVDEKNQLMTTNVWLKQEWTDHKLRWNPDDYGGIHS
                     IKVPSESLWLPDIVLFENADGRFEGSLMTKVIVKSNGTVVWTPPASYKSSCTMDVTFF
                     PFDRQNCSMKFGSWTYDGTMVDLILINENVDRKDFFDNGEWEILNAKGMKGNRRDGVY
                     SYPFITYSFVLRRLPLFYTLFLIIPCLGLSFLTVLVFYLPSDEGEKLSLSTSVLVSLT
                     VFLLVIEEIIPSSSKVIPLIGEYLLFIMIFVTLSIIVTVFVINVHHRSSSTYHPMAPW
                     VKRLFLQKLPKLLCMKDHVDRYSSPEKEESQPVVKGKVLEKKKQKQLSDGEKVLVAFL
                     EKAADSIRYISRHVKKEHFISQVVQDWKFVAQVLDRIFLWLFLIVSVTGSVLIFTPAL
                     KMWLHSYH"
     exon            234..385
                     /gene="CHRNB3"
                     /inference="alignment:Splign:2.1.0"
     exon            386..430
                     /gene="CHRNB3"
                     /inference="alignment:Splign:2.1.0"
     exon            431..540
                     /gene="CHRNB3"
                     /inference="alignment:Splign:2.1.0"
     exon            541..1423
                     /gene="CHRNB3"
                     /inference="alignment:Splign:2.1.0"
     exon            1424..2347
                     /gene="CHRNB3"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gagaagcggc acactcggcg agaggggttg agattgtttt attccactcc aggtgttgct
       61 gtcctcttgg gttccacttc ggattttgaa cccctgtatt ttcttttcaa aacccccttt
      121 tccagtggaa atgctctgtt gttaaaaagg aagaaactgt ctttctgaaa ctgacatcac
      181 gatgctccca gattttatgc tggttctcat cgtccttggc atcccttcct cagccaccac
      241 aggtttcaac tcaatcgccg aaaatgaaga tgccctcctc agacatttgt tccaaggtta
      301 tcagaaatgg gtccgccctg tattacattc taatgacacc ataaaagtat attttggatt
      361 gaaaatatcc cagcttgtag atgtggatga aaagaatcag ctgatgacaa ccaatgtgtg
      421 gctcaaacag gaatggacag accacaagtt acgctggaat cctgatgatt atggtgggat
      481 ccattccatt aaagttccat cagaatctct gtggcttcct gacatagttc tctttgaaaa
      541 tgctgacggc cgcttcgaag gctccctgat gaccaaggtc atcgtgaaat caaacggaac
      601 tgttgtctgg acccctcccg ccagctacaa aagctcctgc accatggacg tcacgttttt
      661 cccgttcgac cgacagaact gctccatgaa gtttggatcc tggacttatg atggcaccat
      721 ggttgacctc attttgatca atgaaaatgt cgacagaaaa gacttcttcg ataacggaga
      781 atgggaaata ctgaacgcaa aggggatgaa ggggaacaga agggacggcg tgtactccta
      841 tccctttatc acgtattcct tcgtcctgag acgcctgcct ttattctata ccctctttct
      901 catcatcccc tgcctggggc tgtctttcct aacagttctt gtgttctatt taccttcgga
      961 tgaaggagaa aaactttcat tatccacatc ggtcttggtt tctctgacag ttttcctttt
     1021 agtgattgaa gaaatcatcc catcgtcttc caaagtcatt cctctcattg gagagtacct
     1081 gctgttcatc atgatttttg tgaccctgtc catcattgtt accgtgtttg tcattaacgt
     1141 tcaccacaga tcttcttcca cgtaccaccc catggccccc tgggttaaga ggctctttct
     1201 gcagaaactt ccaaaattac tttgcatgaa agatcatgtg gatcgctact catccccaga
     1261 gaaagaggag agtcaaccag tagtgaaagg caaagtcctc gaaaaaaaga aacagaaaca
     1321 gcttagtgat ggagaaaaag ttctagttgc ttttttggaa aaagctgctg attccattag
     1381 atacatttcg agacatgtga agaaagaaca ttttatcagc caggtagtac aagactggaa
     1441 atttgtagct caagttcttg accgaatctt cctgtggctc tttctgatag tgtcagtaac
     1501 aggctcggtt ctgattttta cccctgcttt gaagatgtgg ctacatagtt accattagga
     1561 atttaaaaga cataagacta aattacacct tagacctgac atctggctat cacacagaca
     1621 gaatccaaat gcatgtgctt gttctacgaa ccccgaatgc gttgtctttg tggaaatgga
     1681 acatctcctc atgggagaaa ctctggtaaa tgtgctcatt tgtggttgcc atgagagtga
     1741 gctgctttta aagaaagtgg agcctcctca gacccctgcc ttggctttcc cagacattca
     1801 gggagggatc ataggtccag gcttgagctc acatgtggcc agagtgcaca aaaagctgtt
     1861 gctacttggt ggaggaacac ctcctagaag cagcaggcct cggtggtggg ggagggggga
     1921 ttcacctgga attaaggaag tctcggtgtc gagctatctg tgtgggcaga gcctggatct
     1981 cccaccctgc actggcctcc ttggtggttt tgtctgagct gcaaactggg gccgtgttat
     2041 gcttgttagc aatgggccag gcaaatctca acaagggttt ggggattaca ctggcaggat
     2101 agctggcact gcacacttaa caataacaca gattccaagt tgcctggcct accgaagcag
     2161 gtgttattca tggtttattc ccagcatgat aaggctttca gatggtgaaa ctggagccca
     2221 ctgtgagctg tgacttcctt taaggtcatg cataccaaaa taactcacaa tagaaacaaa
     2281 gccctttgct accagaagtg gattcattaa tacccattat cttttcctag taaactagtg
     2341 tacagaa
//
