LOCUS       NM_006651               2112 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens complexin 1 (CPLX1), mRNA.
ACCESSION   NM_006651
VERSION     NM_006651.4
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 2112)
  AUTHORS   Ramakrishnan,S., Bera,M., Coleman,J., Rothman,J.E. and
            Krishnakumar,S.S.
  TITLE     Synergistic roles of Synaptotagmin-1 and complexin in
            calcium-regulated neuronal exocytosis
  JOURNAL   Elife 9, e54506 (2020)
   PUBMED   32401194
  REMARK    GeneRIF: Synergistic roles of Synaptotagmin-1 and complexin in
            calcium-regulated neuronal exocytosis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2112)
  AUTHORS   Lu,W., Zhang,Y., Fang,X., Fan,W., Tang,W., Cai,J., Song,L. and
            Zhang,C.
  TITLE     Genetic association analysis of microRNA137 and its target complex
            1 with schizophrenia in Han Chinese
  JOURNAL   Sci Rep 7 (1), 15084 (2017)
   PUBMED   29118371
  REMARK    GeneRIF: Findings do not support microRNA137 (MIR137) and complexin
            1 (CPLX1) conferring susceptibility to schizophrenia in Han
            Chinese.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2112)
  AUTHORS   Redler,S., Strom,T.M., Wieland,T., Cremer,K., Engels,H.,
            Distelmaier,F., Schaper,J., Kuchler,A., Lemke,J.R., Jeschke,S.,
            Schreyer,N., Sticht,H., Koch,M., Ludecke,H.J. and Wieczorek,D.
  TITLE     Variants in CPLX1 in two families with autosomal-recessive severe
            infantile myoclonic epilepsy and ID
  JOURNAL   Eur J Hum Genet 25 (7), 889-893 (2017)
   PUBMED   28422131
  REMARK    GeneRIF: Homozygous CPLX1 variants were identified in three
            patients with severe infantile myoclonic epilepsy and ID.
REFERENCE   4  (bases 1 to 2112)
  AUTHORS   Lahut,S., Gispert,S., Omur,O., Depboylu,C., Seidel,K.,
            Dominguez-Bautista,J.A., Brehm,N., Tireli,H., Hackmann,K.,
            Pirkevi,C., Leube,B., Ries,V., Reim,K., Brose,N., den Dunnen,W.F.,
            Johnson,M., Wolf,Z., Schindewolf,M., Schrempf,W., Reetz,K.,
            Young,P., Vadasz,D., Frangakis,A.S., Schrock,E., Steinmetz,H.,
            Jendrach,M., Rub,U., Basak,A.N., Oertel,W. and Auburger,G.
  TITLE     Blood RNA biomarkers in prodromal PARK4 and rapid eye movement
            sleep behavior disorder show role of complexin 1 loss for risk of
            Parkinson's disease
  JOURNAL   Dis Model Mech 10 (5), 619-631 (2017)
   PUBMED   28108469
  REMARK    GeneRIF: data define CPLX1 as a PD risk factor and provide
            functional insights into the role and regulation of blood SNCA
            levels. The new blood biomarkers of PARK4 in this Turkish family
            might become useful for PD prediction
REFERENCE   5  (bases 1 to 2112)
  AUTHORS   Ramos-Miguel,A., Sawada,K., Jones,A.A., Thornton,A.E., Barr,A.M.,
            Leurgans,S.E., Schneider,J.A., Bennett,D.A. and Honer,W.G.
  TITLE     Presynaptic proteins complexin-I and complexin-II differentially
            influence cognitive function in early and late stages of
            Alzheimer's disease
  JOURNAL   Acta Neuropathol 133 (3), 395-407 (2017)
   PUBMED   27866231
  REMARK    GeneRIF: This study demonstrated that complexin-I influence
            cognitive function in early and late stages of Alzheimer's disease.
REFERENCE   6  (bases 1 to 2112)
  AUTHORS   Eastwood,S.L., Cotter,D. and Harrison,P.J.
  TITLE     Cerebellar synaptic protein expression in schizophrenia
  JOURNAL   Neuroscience 105 (1), 219-229 (2001)
   PUBMED   11483314
REFERENCE   7  (bases 1 to 2112)
  AUTHORS   Harrison,P.J. and Eastwood,S.L.
  TITLE     Preferential involvement of excitatory neurons in medial temporal
            lobe in schizophrenia
  JOURNAL   Lancet 352 (9141), 1669-1673 (1998)
   PUBMED   9853440
  REMARK    Erratum:[Lancet 1999 Jan 9;353(9147):154]
REFERENCE   8  (bases 1 to 2112)
  AUTHORS   McMahon,H.T., Missler,M., Li,C. and Sudhof,T.C.
  TITLE     Complexins: cytosolic proteins that regulate SNAP receptor function
  JOURNAL   Cell 83 (1), 111-119 (1995)
   PUBMED   7553862
REFERENCE   9  (bases 1 to 2112)
  AUTHORS   Ishizuka,T., Saisu,H., Odani,S. and Abe,T.
  TITLE     Synaphin: a protein associated with the docking/fusion complex in
            presynaptic terminals
  JOURNAL   Biochem Biophys Res Commun 213 (3), 1107-1114 (1995)
   PUBMED   7654227
REFERENCE   10 (bases 1 to 2112)
  AUTHORS   Battaglia,A., Carey,J.C. and South,S.T.
  TITLE     Wolf-Hirschhorn Syndrome - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301362
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC139887.3.
            
            On Nov 25, 2018 this sequence version replaced NM_006651.3.
            
            Summary: Proteins encoded by the complexin/synaphin gene family are
            cytosolic proteins that function in synaptic vesicle exocytosis.
            These proteins bind syntaxin, part of the SNAP receptor.  The
            protein product of this gene binds to the SNAP receptor complex and
            disrupts it, allowing transmitter release. [provided by RefSeq, Jul
            2008].
            
            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 :: BC002471.2, AB593095.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267753, SAMN03267761
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304062.11/ ENSP00000305613.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-84                AC139887.3         87823-87906         c
            85-194              AC139887.3         86269-86378         c
            195-370             AC139887.3         54210-54385         c
            371-2112            AC139887.3         46734-48475         c
FEATURES             Location/Qualifiers
     source          1..2112
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..2112
                     /gene="CPLX1"
                     /gene_synonym="CPX-I; CPX1; DEE63; EIEE63"
                     /note="complexin 1"
                     /db_xref="GeneID:10815"
                     /db_xref="HGNC:HGNC:2309"
                     /db_xref="MIM:605032"
     exon            1..84
                     /gene="CPLX1"
                     /gene_synonym="CPX-I; CPX1; DEE63; EIEE63"
                     /inference="alignment:Splign:2.1.0"
     exon            85..194
                     /gene="CPLX1"
                     /gene_synonym="CPX-I; CPX1; DEE63; EIEE63"
                     /inference="alignment:Splign:2.1.0"
     CDS             164..568
                     /gene="CPLX1"
                     /gene_synonym="CPX-I; CPX1; DEE63; EIEE63"
                     /note="synaphin 2; CPX I; complexin I"
                     /codon_start=1
                     /product="complexin-1"
                     /protein_id="NP_006642.1"
                     /db_xref="CCDS:CCDS46995.1"
                     /db_xref="GeneID:10815"
                     /db_xref="HGNC:HGNC:2309"
                     /db_xref="MIM:605032"
                     /translation="MEFVMKQALGGATKDMGKMLGGDEEKDPDAAKKEEERQEALRQA
                     EEERKAKYAKMEAEREAVRQGIRDKYGIKKKEEREAEAQAAMEANSEGSLTRPKKAIP
                     PGCGDEVEEEDESILDTVIKYLPGPLQDMLKK"
     exon            195..370
                     /gene="CPLX1"
                     /gene_synonym="CPX-I; CPX1; DEE63; EIEE63"
                     /inference="alignment:Splign:2.1.0"
     exon            371..2112
                     /gene="CPLX1"
                     /gene_synonym="CPX-I; CPX1; DEE63; EIEE63"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2093..2098
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CPLX1"
                     /gene_synonym="CPX-I; CPX1; DEE63; EIEE63"
                     /note="hexamer: AATAAA"
     polyA_site      2112
                     /gene="CPLX1"
                     /gene_synonym="CPX-I; CPX1; DEE63; EIEE63"
                     /note="major polyA site"
ORIGIN      
        1 agccgccgcc gcagctcacc gggcgccaca tggacccagc cggcccgagc gcgccccgcc
       61 gctgaccgcc cgcgccccgg gaaggaagaa cactcgctcc cggccatact tgcgtgtgag
      121 ttctgacccc tggaggagcc actgtggaag cagagcaatc gccatggagt ttgtgatgaa
      181 gcaggctcta ggaggggcca ccaaggacat ggggaagatg ctggggggtg acgaggagaa
      241 ggacccagac gccgccaaga aggaggagga gcggcaggag gcgctgcgcc aggcggagga
      301 ggagcgcaag gccaagtacg ccaagatgga ggcggagcgc gaggccgtgc gccagggcat
      361 ccgagacaag tacggcatca agaagaagga ggagcgcgag gccgaggccc aggccgccat
      421 ggaggccaac tccgagggga gcttgacgcg gcccaagaag gccatcccgc cgggctgcgg
      481 ggacgaggtg gaggaggagg acgagagcat cctggacacc gtcatcaagt acctgcccgg
      541 gccgctgcag gacatgctca agaagtagcc gcgcgcggga cagcggcccc gcggagcccc
      601 cgcccctccc cctacagatc ctccgcggag gcccctgagg gacgagcaga gcgcagcccc
      661 cacgccgata taagccatag ccccaggccc gccctgcccg cgcccgccgc ctccctcacc
      721 cggcaagggg cgcgcgcccc caggaccccc ccagtccgcc ccgtgctcct ctgcccgcgg
      781 gtggctggag ccccatcgcc tgggacgccc ctttctcttg ctgtttaccg cccacccagc
      841 agcgcccgag gccagggccg ccgaagggca gccccgcgac cacccctgtg cgcgcgttcg
      901 cggcggtggg cgcctgtcgg gcccgcactc aggagcacag ccatagcaga cggggggctg
      961 cgggcggggc gagggcggcg gggcctgggt ccccctcctg cacgcggact ccggggttcg
     1021 gatcgctccg ccgtgagtat ttgcgtccgc acgcggccgc tctccgcccc ccggcctggc
     1081 cccctcgcgc ccctgtccat ccgtctctgt ccgcgtcctt tcctctcctc tctggaaggt
     1141 tttgcttctt acgaacgcca cggccgtgtt cacttctaaa ctaaaggaaa caaagcaata
     1201 ggtttggggg acgcccagcc cccacccccg tcaccccgct cttcccaagt cctcgccccc
     1261 cgcccggcct cctagcctct ccgcccacgc ggctgctgct tctccctggg gaggacccct
     1321 gccctcggcc attgaacact gcaccctcca caggagccgc agaggcccga ggcaccggac
     1381 gctggagacc ctgcgcccct gcccagcacc tcctccgtgg gcagctcctc gggtggggcc
     1441 tgcggggttc cctgcgcgca gctggcgcgt gtgtggccta atccacctgg tggccctgcg
     1501 gggcggcatc cgagcccctg tttctcctcc attcatgttt aatttgcatc acaatttgtt
     1561 gaatctcagg taaatgaggt ctttgcattt aatgagtttt atcttgacag gcgccgcctc
     1621 gcccccgggc cctttcgtcc acatcaaaaa tgcatcaagt ctccacgtgt ttcgggccag
     1681 ggcgtggctt ggcattgacc ttcatgacct tacatagctt tagagaagcc ataacgttag
     1741 actgcaatac taacgaccga cgcccctccg ggcagagacc accgcgcccc tctgcgcccc
     1801 agcgacgcgg cccgcgggga cgtcgctgtc cgtcctgctc gccctgtgcc ctctcactga
     1861 cttctcccgg gtcgtgtctt ttaaaaactc ctgttttcac accttacaaa gccagctctg
     1921 agcagacagg gcgtcctctc gtagaacctg cgcaccccgt tcccagcgca tggcgccccg
     1981 ggccgcgagc ttagcttaga ccgtggtgtc ctctgtccgt ctgtcctgcg cctgcgcctc
     2041 ctcctgcatg tcggggcccc tgcgtgtgtt ctctccggat ggaatcacag ccaataaaca
     2101 ccagtgattt ca
//
