LOCUS       NM_139320               3411 bp    mRNA    linear   PRI 17-SEP-2024
DEFINITION  Homo sapiens CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion
            (CHRFAM7A), transcript variant 1, mRNA.
ACCESSION   NM_139320
VERSION     NM_139320.2
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 3411)
  AUTHORS   Gorgulu,I., Jagannath,V., Pons,S., Koniuszewski,F., Groszer,M.,
            Maskos,U., Huck,S. and Scholze,P.
  TITLE     The human-specific nicotinic receptor subunit CHRFAM7A reduces
            alpha7 receptor function in human induced pluripotent stem
            cells-derived and transgenic mouse neurons
  JOURNAL   Eur J Neurosci 60 (5), 4893-4906 (2024)
   PUBMED   39073048
  REMARK    GeneRIF: The human-specific nicotinic receptor subunit CHRFAM7A
            reduces alpha7 receptor function in human induced pluripotent stem
            cells-derived and transgenic mouse neurons.
REFERENCE   2  (bases 1 to 3411)
  AUTHORS   Szigeti,K., Ihnatovych,I., Notari,E., Dorn,R.P., Maly,I., He,M.,
            Birkaya,B., Prasad,S., Byrne,R.S., Indurthi,D.C., Nimmer,E.,
            Heo,Y., Retfalvi,K., Chaves,L., Sule,N., Hofmann,W.A., Auerbach,A.,
            Wilding,G., Bae,Y. and Reynolds,J.
  TITLE     CHRFAM7A diversifies human immune adaption through Ca2+ signalling
            and actin cytoskeleton reorganization
  JOURNAL   EBioMedicine 103, 105093 (2024)
   PUBMED   38569318
  REMARK    GeneRIF: CHRFAM7A diversifies human immune adaption through Ca[2+]
            signalling and actin cytoskeleton reorganization.
REFERENCE   3  (bases 1 to 3411)
  AUTHORS   Pradhan,A., Mounford,H., Peixinho,J., Rea,E., Epeslidou,E.,
            Scott,J.S., Cull,J., Maxwell,S., Webster,R., Beeson,D., Dong,Y.Y.,
            Prekovic,S., Bermudez,I. and Newbury,D.F.
  TITLE     Unraveling the molecular interactions between alpha7 nicotinic
            receptor and a RIC3 variant associated with backward speech
  JOURNAL   Cell Mol Life Sci 81 (1), 129 (2024)
   PUBMED   38472514
  REMARK    GeneRIF: Unraveling the molecular interactions between alpha7
            nicotinic receptor and a RIC3 variant associated with backward
            speech.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3411)
  AUTHORS   Burke,S.M., Avstrikova,M., Noviello,C.M., Mukhtasimova,N.,
            Changeux,J.P., Thakur,G.A., Sine,S.M., Cecchini,M. and Hibbs,R.E.
  TITLE     Structural mechanisms of alpha7 nicotinic receptor allosteric
            modulation and activation
  JOURNAL   Cell 187 (5), 1160-1176 (2024)
   PUBMED   38382524
  REMARK    GeneRIF: Structural mechanisms of alpha7 nicotinic receptor
            allosteric modulation and activation.
REFERENCE   5  (bases 1 to 3411)
  AUTHORS   Prevost,M.S., Barilone,N., Dejean de la Batie,G., Pons,S., Ayme,G.,
            England,P., Gielen,M., Bontems,F., Pehau-Arnaudet,G., Maskos,U.,
            Lafaye,P. and Corringer,P.J.
  TITLE     An original potentiating mechanism revealed by the cryo-EM
            structures of the human alpha7 nicotinic receptor in complex with
            nanobodies
  JOURNAL   Nat Commun 14 (1), 5964 (2023)
   PUBMED   37749098
  REMARK    GeneRIF: An original potentiating mechanism revealed by the cryo-EM
            structures of the human alpha7 nicotinic receptor in complex with
            nanobodies.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3411)
  AUTHORS   Bale,A.S., Meacham,C.A., Benignus,V.A., Bushnell,P.J. and
            Shafer,T.J.
  TITLE     Volatile organic compounds inhibit human and rat neuronal nicotinic
            acetylcholine receptors expressed in Xenopus oocytes
  JOURNAL   Toxicol Appl Pharmacol 205 (1), 77-88 (2005)
   PUBMED   15885267
  REMARK    GeneRIF: Results demonstrate that human and rat nicotinic
            acetylcholine receptors are senstive targets for volatile organic
            compounds in industrial products and are used in the risk
            assessment of these compounds.
REFERENCE   7  (bases 1 to 3411)
  AUTHORS   Trombino,S., Cesario,A., Margaritora,S., Granone,P., Motta,G.,
            Falugi,C. and Russo,P.
  TITLE     Alpha7-nicotinic acetylcholine receptors affect growth regulation
            of human mesothelioma cells: role of mitogen-activated protein
            kinase pathway
  JOURNAL   Cancer Res 64 (1), 135-145 (2004)
   PUBMED   14729617
  REMARK    GeneRIF: Human mesothelioma cells and human biopsies of
            mesothelioma as well as of normal pleural mesothelial cells
            functionally express CHRNA7.
            Erratum:[Cancer Res. 2004 Feb 15;64(4):1559]
REFERENCE   8  (bases 1 to 3411)
  AUTHORS   Riley,B., Williamson,M., Collier,D., Wilkie,H. and Makoff,A.
  TITLE     A 3-Mb map of a large Segmental duplication overlapping the
            alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human
            15q13-q14
  JOURNAL   Genomics 79 (2), 197-209 (2002)
   PUBMED   11829490
  REMARK    GeneRIF: 3-Mb map of 15q13-q14 showing that CHRFAM7A is part of a
            large segmental duplication in the opposite orientation to CHRNA7
            and revealing several other duplications
REFERENCE   9  (bases 1 to 3411)
  AUTHORS   Freedman,R., Leonard,S., Gault,J.M., Hopkins,J., Cloninger,C.R.,
            Kaufmann,C.A., Tsuang,M.T., Farone,S.V., Malaspina,D.,
            Svrakic,D.M., Sanders,A. and Gejman,P.
  TITLE     Linkage disequilibrium for schizophrenia at the chromosome 15q13-14
            locus of the alpha7-nicotinic acetylcholine receptor subunit gene
            (CHRNA7)
  JOURNAL   Am J Med Genet 105 (1), 20-22 (2001)
   PUBMED   11424985
REFERENCE   10 (bases 1 to 3411)
  AUTHORS   Gault,J., Robinson,M., Berger,R., Drebing,C., Logel,J., Hopkins,J.,
            Moore,T., Jacobs,S., Meriwether,J., Choi,M.J., Kim,E.J., Walton,K.,
            Buiting,K., Davis,A., Breese,C., Freedman,R. and Leonard,S.
  TITLE     Genomic organization and partial duplication of the human alpha7
            neuronal nicotinic acetylcholine receptor gene (CHRNA7)
  JOURNAL   Genomics 52 (2), 173-185 (1998)
   PUBMED   9782083
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC019322.8.
            
            On Dec 3, 2019 this sequence version replaced NM_139320.1.
            
            Summary: The nicotinic acetylcholine receptors (nAChRs) are members
            of a superfamily of ligand-gated ion channels that mediate fast
            signal transmission at synapses. The family member CHRNA7, which is
            located on chromosome 15 in a region associated with several
            neuropsychiatric disorders, is partially duplicated and forms a
            hybrid with a novel gene from the family with sequence similarity 7
            (FAM7A). Alternative splicing has been observed, and two variants
            exist, for this hybrid gene. The N-terminally truncated products
            predicted by the largest open reading frames for each variant would
            lack the majority of the neurotransmitter-gated ion-channel ligand
            binding domain but retain the transmembrane region that forms the
            ion channel. Although current evidence supports transcription of
            this hybrid gene, translation of the nicotinic acetylcholine
            receptor-like protein-encoding open reading frames has not been
            confirmed. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) is the full-length variant and
            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 :: BC101346.2, SRR18074969.3042069.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000299847.7/ ENSP00000299847.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-289               AC019322.8         90666-90954         c
            290-414             AC019322.8         84277-84401         c
            415-478             AC019322.8         80733-80796         c
            479-525             AC019322.8         77767-77813         c
            526-605             AC019322.8         74444-74523         c
            606-773             AC019322.8         70392-70559         c
            774-968             AC019322.8         69561-69755         c
            969-1055            AC019322.8         68512-68598         c
            1056-1165           AC019322.8         64832-64941         c
            1166-3411           AC019322.8         57980-60225         c
FEATURES             Location/Qualifiers
     source          1..3411
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.2"
     gene            1..3411
                     /gene="CHRFAM7A"
                     /gene_synonym="CHRNA7; CHRNA7-DR1; D-10; NACHRA7"
                     /note="CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion"
                     /db_xref="GeneID:89832"
                     /db_xref="HGNC:HGNC:15781"
                     /db_xref="MIM:609756"
     exon            1..289
                     /gene="CHRFAM7A"
                     /gene_synonym="CHRNA7; CHRNA7-DR1; D-10; NACHRA7"
                     /inference="alignment:Splign:2.1.0"
     exon            290..414
                     /gene="CHRFAM7A"
                     /gene_synonym="CHRNA7; CHRNA7-DR1; D-10; NACHRA7"
                     /inference="alignment:Splign:2.1.0"
     exon            415..478
                     /gene="CHRFAM7A"
                     /gene_synonym="CHRNA7; CHRNA7-DR1; D-10; NACHRA7"
                     /inference="alignment:Splign:2.1.0"
     CDS             446..1684
                     /gene="CHRFAM7A"
                     /gene_synonym="CHRNA7; CHRNA7-DR1; D-10; NACHRA7"
                     /note="isoform 1 is encoded by transcript variant 1;
                     CHRNA7 (cholinergic receptor, nicotinic, alpha polypeptide
                     7, exons 5-10) and FAM7A (family with sequence similarity
                     7A, exons A-E) fusion; alpha 7 neuronal nicotinic
                     acetylcholine receptor-FAM7A hybrid; CHRNA7-FAM7A fusion
                     protein; alpha-7 nicotinic cholinergic receptor subunit;
                     Neuronal acetylcholine receptor subunit alpha-7; CHRNA7
                     (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and
                     FAM7A (family with sequence similarity 7A, exons A-E)
                     fusion"
                     /codon_start=1
                     /product="CHRNA7-FAM7A fusion protein isoform 1"
                     /protein_id="NP_647536.1"
                     /db_xref="CCDS:CCDS32184.1"
                     /db_xref="GeneID:89832"
                     /db_xref="HGNC:HGNC:15781"
                     /db_xref="MIM:609756"
                     /translation="MQKYCIYQHFQFQLLIQHLWIAANCDIADERFDATFHTNVLVNS
                     SGHCQYLPPGIFKSSCYIDVRWFPFDVQHCKLKFGSWSYGGWSLDLQMQEADISGYIP
                     NGEWDLVGIPGKRSERFYECCKEPYPDVTFTVTMRRRTLYYGLNLLIPCVLISALALL
                     VFLLPADSGEKISLGITVLLSLTVFMLLVAEIMPATSDSVPLIAQYFASTMIIVGLSV
                     VVTVIVLQYHHHDPDGGKMPKWTRVILLNWCAWFLRMKRPGEDKVRPACQHKQRRCSL
                     ASVEMSAVAPPPASNGNLLYIGFRGLDGVHCVPTPDSGVVCGRMACSPTHDEHLLHGG
                     QPPEGDPDLAKILEEVRYIANRFRCQDESEAVCSEWKFAACVVDRLCLMAFSVFTIIC
                     TIGILMSAPNFVEAVSKDFA"
     exon            479..525
                     /gene="CHRFAM7A"
                     /gene_synonym="CHRNA7; CHRNA7-DR1; D-10; NACHRA7"
                     /inference="alignment:Splign:2.1.0"
     exon            526..605
                     /gene="CHRFAM7A"
                     /gene_synonym="CHRNA7; CHRNA7-DR1; D-10; NACHRA7"
                     /inference="alignment:Splign:2.1.0"
     exon            606..773
                     /gene="CHRFAM7A"
                     /gene_synonym="CHRNA7; CHRNA7-DR1; D-10; NACHRA7"
                     /inference="alignment:Splign:2.1.0"
     exon            774..968
                     /gene="CHRFAM7A"
                     /gene_synonym="CHRNA7; CHRNA7-DR1; D-10; NACHRA7"
                     /inference="alignment:Splign:2.1.0"
     exon            969..1055
                     /gene="CHRFAM7A"
                     /gene_synonym="CHRNA7; CHRNA7-DR1; D-10; NACHRA7"
                     /inference="alignment:Splign:2.1.0"
     exon            1056..1165
                     /gene="CHRFAM7A"
                     /gene_synonym="CHRNA7; CHRNA7-DR1; D-10; NACHRA7"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..3411
                     /gene="CHRFAM7A"
                     /gene_synonym="CHRNA7; CHRNA7-DR1; D-10; NACHRA7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3385..3390
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRFAM7A"
                     /gene_synonym="CHRNA7; CHRNA7-DR1; D-10; NACHRA7"
                     /note="hexamer: AATAAA"
     polyA_site      3411
                     /gene="CHRFAM7A"
                     /gene_synonym="CHRNA7; CHRNA7-DR1; D-10; NACHRA7"
                     /note="major polyA site"
ORIGIN      
        1 acatagctcc cgccaagtcc tcggtgcccc ttgccatttt ccagccgcgc tcccacgagg
       61 gtcacggcgg cggggagagg tggagccgcg agagctcggc cgggggcccc gcctggtggt
      121 cgcggccatg acagcggctc gggacaggct ccttttccgc gcccctcccg ccggaggtga
      181 ggggaagatg tccatgtccg ggttcaaggc caaaccgaag ttactggcct ctatcttcca
      241 ggagaaccag gagccacagc cgcggctcac gccccaccgc aacattaaga ttacaagtgg
      301 acacctgagt cagcaggacc tggaatccca gatgagagag cttatctaca cgactcagat
      361 cttgttgtca cccccattat tgacaatcca aaggtgcaga aagcactctg acaaataatg
      421 aaacaaccac catcggttaa atttgatgca aaaatattgc atctaccagc attttcagtt
      481 ccaattgcta atccagcatt tgtggatagc tgcaaactgc gatattgctg atgagcgctt
      541 tgacgccaca ttccacacta acgtgttggt gaattcttct gggcattgcc agtacctgcc
      601 tccaggcata ttcaagagtt cctgctacat cgatgtacgc tggtttccct ttgatgtgca
      661 gcactgcaaa ctgaagtttg ggtcctggtc ttacggaggc tggtccttgg atctgcagat
      721 gcaggaggca gatatcagtg gctatatccc caatggagaa tgggacctag tgggaatccc
      781 cggcaagagg agtgaaaggt tctatgagtg ctgcaaagag ccctaccctg atgtcacctt
      841 cacagtgacc atgcgccgca ggacgctcta ctatggcctc aacctgctga tcccctgtgt
      901 gctcatctcc gccctcgccc tgctggtgtt cctgcttcct gcagattccg gggagaagat
      961 ttccctgggg ataacagtct tactctctct taccgtcttc atgctgctcg tggctgagat
     1021 catgcccgca acatccgatt cggtaccatt gatagcccag tacttcgcca gcaccatgat
     1081 catcgtgggc ctctcggtgg tggtgacggt gatcgtgctg cagtaccacc accacgaccc
     1141 cgacgggggc aagatgccca agtggaccag agtcatcctt ctgaactggt gcgcgtggtt
     1201 cctgcgaatg aagaggcccg gggaggacaa ggtgcgcccg gcctgccagc acaagcagcg
     1261 gcgctgcagc ctggccagtg tggagatgag tgccgtggcg ccgccgcccg ccagcaacgg
     1321 gaacctgctg tacatcggct tccgcggcct ggacggcgtg cactgtgtcc cgacccccga
     1381 ctctggggta gtgtgtggcc gcatggcctg ctcccccacg cacgatgagc acctcctgca
     1441 cggcgggcaa ccccccgagg gggacccgga cttggccaag atcctggagg aggtccgcta
     1501 cattgccaac cgcttccgct gccaggacga aagcgaggcg gtctgcagcg agtggaagtt
     1561 cgccgcctgt gtggtggacc gcctgtgcct catggccttc tcggtcttca ccatcatctg
     1621 caccatcggc atcctgatgt cggctcccaa cttcgtggag gccgtgtcca aagactttgc
     1681 gtaaccacgc ctggttctgt acatgtggaa aactcacaga tgggcaaggc ctttggcttg
     1741 gcgagatttg ggggtgctaa tccaggacag cattacacgc cacaactcca gtgttccctt
     1801 ctggctgtca gtcgtgttgc ttacggtttc tttgttactt taggtagtag aatctcagca
     1861 ctttgtttca tattctcaga tgggctgata gatatccttg gcacatccgt accatcggtc
     1921 agcagggcca ctgagtagtc attttgccca ttagcccact gcctggaaag cccttcggag
     1981 agctccccat ggctcctcac caccgagaca gttggttttg catgtctgca tgaaggtcta
     2041 cctgaaaatt caacatttgc tttttgcttg tgtacaaacc cagattgaag ctaaaataaa
     2101 ccagactcac taaatccttt ccaataattg actggtggaa ggaaaacaaa aaacaaaaac
     2161 taaaaacctc ttagcttttc tgcaattcaa ctttttattt ttatttttat ttctatcaaa
     2221 gacggtagag agaaacagct tgatgctgtt tctacatcaa aaaaaaaaaa aaaaaagaca
     2281 gactgttggt cttactaagg atgtttttac cagcctgcct gacttctgca aacctaccct
     2341 gtcaaggaga tcaaagggac gcaggtttct gtttattctg aacaagggcc aggccccgcg
     2401 gagtgtcttt ggtggatccc agataactcc taggtgctgc tctcagacac tgaggagttg
     2461 agcaaatctg ttctattctg cagaacccat aggacaaata agagttctac tagaattaac
     2521 agcccaaaag aatagctaca gctaagtgaa gccacttacg tgggctttaa aaaaataatg
     2581 tgttagctga ttcacatgca ctggagttaa ttagtcttag aaatgtgtgc atccatacaa
     2641 atgcacaaca taaagtgaac atattcctag gccctttctg cctgtgtcag ggccaggaag
     2701 tagaggctgg gaactcttct ggtccccagt atggcaggcg ccagggaggg gatggtgtgg
     2761 cccatccctt ctctggatac ctggccagtg gcaggcagca gggaggagct ggccgaccct
     2821 cagtgactga caagccagca attctgagtt ctggcctttg ggagtctgcc tgctccaagc
     2881 cagtccaccc cagctgcagc cccaaaagct ggctcaaagt ccttgggtgg attcactgga
     2941 gatgggcaac ttaaaacaag agaaacttta atttttaaac ctaagtgatg atacagctct
     3001 tcccttagat tatcgcccag gctggagtgc agtggcatga tctcagctca ctgcaagctc
     3061 cacctcctgg gttcatgcca ttctcctgcc tcagcctccc cccgagtaac tgggaataca
     3121 ggcgcccgcc accatgcctg gctaattttt tgtattttta gtagagatag ggtttcatca
     3181 tgttagccag gatggtctca ttcttattct ttaatgagat cagagggtaa ttcaccaaga
     3241 aagacctctc ctgttccatt gtgtcatcca acaactgctc agagctcaaa attatagaag
     3301 gcttctgagc ccctagagat ttttaatttg cttctaatcc ctgaggtggg aacatcatga
     3361 gggaagattt gattttcaga gttaaataaa ttgtatgtgc ttttccagcc a
//
