LOCUS       NM_001385089            2788 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens brain enriched guanylate kinase associated (BEGAIN),
            transcript variant 10, mRNA.
ACCESSION   NM_001385089 XM_011537031
VERSION     NM_001385089.1
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 2788)
  AUTHORS   Potabattula,R., Prell,A., Dittrich,M., Nava,C., Depienne,C.,
            Bejaoui,Y., El Hajj,N., Hahn,T., Schorsch,M. and Haaf,T.
  TITLE     Effects of paternal and chronological age on BEGAIN methylation and
            its possible role in autism
  JOURNAL   Aging (Albany NY) 15 (22), 12763-12779 (2023)
   PUBMED   38019471
  REMARK    GeneRIF: Effects of paternal and chronological age on BEGAIN
            methylation and its possible role in autism.
REFERENCE   2  (bases 1 to 2788)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2788)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2788)
  AUTHORS   Offenbacher,S., Divaris,K., Barros,S.P., Moss,K.L., Marchesan,J.T.,
            Morelli,T., Zhang,S., Kim,S., Sun,L., Beck,J.D., Laudes,M.,
            Munz,M., Schaefer,A.S. and North,K.E.
  TITLE     Genome-wide association study of biologically informed periodontal
            complex traits offers novel insights into the genetic basis of
            periodontal disease
  JOURNAL   Hum Mol Genet 25 (10), 2113-2129 (2016)
   PUBMED   26962152
  REMARK    GeneRIF: With the exception of associations of BEGAIN with severe
            and UBE3D with moderate chronic periodontitis (CP) , no other loci
            were associated with CP in ARIC or aggressive periodontitis in the
            German sample.
REFERENCE   5  (bases 1 to 2788)
  AUTHORS   Nagy,C., Suderman,M., Yang,J., Szyf,M., Mechawar,N., Ernst,C. and
            Turecki,G.
  TITLE     Astrocytic abnormalities and global DNA methylation patterns in
            depression and suicide
  JOURNAL   Mol Psychiatry 20 (3), 320-328 (2015)
   PUBMED   24662927
  REMARK    GeneRIF: This study found in BEGAIN was most significant and also
            showed significant correlations with gene expression.
REFERENCE   6  (bases 1 to 2788)
  AUTHORS   Elks,C.E., Perry,J.R., Sulem,P., Chasman,D.I., Franceschini,N.,
            He,C., Lunetta,K.L., Visser,J.A., Byrne,E.M., Cousminer,D.L.,
            Gudbjartsson,D.F., Esko,T., Feenstra,B., Hottenga,J.J.,
            Koller,D.L., Kutalik,Z., Lin,P., Mangino,M., Marongiu,M.,
            McArdle,P.F., Smith,A.V., Stolk,L., van Wingerden,S.H., Zhao,J.H.,
            Albrecht,E., Corre,T., Ingelsson,E., Hayward,C., Magnusson,P.K.,
            Smith,E.N., Ulivi,S., Warrington,N.M., Zgaga,L., Alavere,H.,
            Amin,N., Aspelund,T., Bandinelli,S., Barroso,I., Berenson,G.S.,
            Bergmann,S., Blackburn,H., Boerwinkle,E., Buring,J.E., Busonero,F.,
            Campbell,H., Chanock,S.J., Chen,W., Cornelis,M.C., Couper,D.,
            Coviello,A.D., d'Adamo,P., de Faire,U., de Geus,E.J., Deloukas,P.,
            Doring,A., Smith,G.D., Easton,D.F., Eiriksdottir,G., Emilsson,V.,
            Eriksson,J., Ferrucci,L., Folsom,A.R., Foroud,T., Garcia,M.,
            Gasparini,P., Geller,F., Gieger,C., Gudnason,V., Hall,P.,
            Hankinson,S.E., Ferreli,L., Heath,A.C., Hernandez,D.G., Hofman,A.,
            Hu,F.B., Illig,T., Jarvelin,M.R., Johnson,A.D., Karasik,D.,
            Khaw,K.T., Kiel,D.P., Kilpelainen,T.O., Kolcic,I., Kraft,P.,
            Launer,L.J., Laven,J.S., Li,S., Liu,J., Levy,D., Martin,N.G.,
            McArdle,W.L., Melbye,M., Mooser,V., Murray,J.C., Murray,S.S.,
            Nalls,M.A., Navarro,P., Nelis,M., Ness,A.R., Northstone,K.,
            Oostra,B.A., Peacock,M., Palmer,L.J., Palotie,A., Pare,G.,
            Parker,A.N., Pedersen,N.L., Peltonen,L., Pennell,C.E., Pharoah,P.,
            Polasek,O., Plump,A.S., Pouta,A., Porcu,E., Rafnar,T., Rice,J.P.,
            Ring,S.M., Rivadeneira,F., Rudan,I., Sala,C., Salomaa,V., Sanna,S.,
            Schlessinger,D., Schork,N.J., Scuteri,A., Segre,A.V.,
            Shuldiner,A.R., Soranzo,N., Sovio,U., Srinivasan,S.R.,
            Strachan,D.P., Tammesoo,M.L., Tikkanen,E., Toniolo,D., Tsui,K.,
            Tryggvadottir,L., Tyrer,J., Uda,M., van Dam,R.M., van Meurs,J.B.,
            Vollenweider,P., Waeber,G., Wareham,N.J., Waterworth,D.M.,
            Weedon,M.N., Wichmann,H.E., Willemsen,G., Wilson,J.F., Wright,A.F.,
            Young,L., Zhai,G., Zhuang,W.V., Bierut,L.J., Boomsma,D.I.,
            Boyd,H.A., Crisponi,L., Demerath,E.W., van Duijn,C.M., Econs,M.J.,
            Harris,T.B., Hunter,D.J., Loos,R.J., Metspalu,A., Montgomery,G.W.,
            Ridker,P.M., Spector,T.D., Streeten,E.A., Stefansson,K.,
            Thorsteinsdottir,U., Uitterlinden,A.G., Widen,E., Murabito,J.M.,
            Ong,K.K. and Murray,A.
  CONSRTM   GIANT Consortium
  TITLE     Thirty new loci for age at menarche identified by a meta-analysis
            of genome-wide association studies
  JOURNAL   Nat Genet 42 (12), 1077-1085 (2010)
   PUBMED   21102462
REFERENCE   7  (bases 1 to 2788)
  AUTHORS   Lim,J., Hao,T., Shaw,C., Patel,A.J., Szabo,G., Rual,J.F.,
            Fisk,C.J., Li,N., Smolyar,A., Hill,D.E., Barabasi,A.L., Vidal,M.
            and Zoghbi,H.Y.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL163974.7 and AL845552.2.
            
            On Jul 8, 2020 this sequence version replaced XM_011537031.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.1664784.1,
                                           SRR14038191.1334120.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000554140.3/ ENSP00000451125.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-169               AL163974.7         66265-66433
            170-198             AL845552.2         115496-115524       c
            199-360             AL845552.2         94086-94247         c
            361-427             AL845552.2         92585-92651         c
            428-535             AL845552.2         91443-91550         c
            536-619             AL845552.2         88081-88164         c
            620-2788            AL845552.2         84732-86900         c
FEATURES             Location/Qualifiers
     source          1..2788
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.2"
     gene            1..2788
                     /gene="BEGAIN"
                     /note="brain enriched guanylate kinase associated"
                     /db_xref="GeneID:57596"
                     /db_xref="HGNC:HGNC:24163"
                     /db_xref="MIM:618597"
     exon            1..169
                     /gene="BEGAIN"
                     /inference="alignment:Splign:2.1.0"
     CDS             128..1966
                     /gene="BEGAIN"
                     /note="isoform 6 is encoded by transcript variant 10;
                     brain-enriched guanylate kinase-associated protein;
                     brain-enriched guanylate kinase-associated homolog"
                     /codon_start=1
                     /product="brain-enriched guanylate kinase-associated
                     protein isoform 6"
                     /protein_id="NP_001372018.1"
                     /db_xref="CCDS:CCDS91933.1"
                     /db_xref="GeneID:57596"
                     /db_xref="HGNC:HGNC:24163"
                     /db_xref="MIM:618597"
                     /translation="MWTGGRRPGRLRRAASAADMEKLSALQEQKGELRKRLSYTTHKL
                     EKLETEFDSTRHYLEIELRRAQEELEKVTEKLRRIQSNYMALQRINQELEDKLYRMGQ
                     HYEEEKRALSHEIVALNSHLLEAKVTIDKLSEDNELYRKDCNLAAQLLQCSQTYGRVH
                     KVSELPSDFQERVSLHMEKHGCSLPSPLCHPAYADSVPTCVIAKVLEKPDPASLSSRL
                     SDASARDLAFCDGVEKPGPRPPYKGDIYCSDTALYCPEERRRDRRPSVDAPVTDVGFL
                     RAQNSTDSAAEEEEEAEAAAFPAGFQHEAFPSYAGSLPTSSSYSSFSATSEEKEHAQA
                     STLTASQQAIYLNSRDELFDRKPPATTYEGSPRFAKATAAVAAPLEAEVAPGFGRTMS
                     PYPAETFRFPASPGPQQALMPPNLWSLRAKPGTARLPGEDMRGQWRPLSVEDIGAYSY
                     PVSAAGRASPCSFSERYYGGAGGSPGKKADGRASPLYASYKADSFSEGDDLSQGHLAE
                     PCFLRAGGDLSLSPGRSADPLPGYAPSEGGDGDRLGVQLCGTASSPEPEQGSRDSLEP
                     SSMEASPEMHPAARLSPQQAFPRTGGSGLSRKDSLTKAQLYGTLLN"
     exon            170..198
                     /gene="BEGAIN"
                     /inference="alignment:Splign:2.1.0"
     exon            199..360
                     /gene="BEGAIN"
                     /inference="alignment:Splign:2.1.0"
     exon            361..427
                     /gene="BEGAIN"
                     /inference="alignment:Splign:2.1.0"
     exon            428..535
                     /gene="BEGAIN"
                     /inference="alignment:Splign:2.1.0"
     exon            536..619
                     /gene="BEGAIN"
                     /inference="alignment:Splign:2.1.0"
     exon            620..2788
                     /gene="BEGAIN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2765..2770
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BEGAIN"
                     /note="hexamer: AATAAA"
     polyA_site      2788
                     /gene="BEGAIN"
                     /note="major polyA site"
ORIGIN      
        1 gctccctgcg ggaagccggg cggggtgggg gagccccggc cgcgccggct cccggcgcgc
       61 tcggcctcgg aggggagggg gcggcggtag cggcggcggc ggtgagcggc gcggctgccc
      121 tggggccatg tggactggcg gtcgccggcc gggccggctg cgccgggcgg cctctgccgc
      181 agacatggag aaactcagcg cgctgcagga gcagaagggc gagctgcgca agcggctgtc
      241 ctacaccaca cacaagctcg agaagctcga gaccgagttc gactccacgc gccactacct
      301 ggagatcgag ctgcggcgcg cgcaggagga actggagaag gtcacggaga agctgcgcag
      361 gattcagagc aactacatgg cactgcagag gatcaaccag gagctggagg acaagctgta
      421 ccgcatgggc cagcactatg aggaggagaa gcgtgcgctg agccacgaga ttgttgccct
      481 caacagccat ctgctagaag ccaaggtgac catcgacaag ctgtcagagg acaacgagct
      541 ctataggaag gactgcaatc tagcggccca gctgctgcag tgcagccaga cctacggcag
      601 ggtccacaag gtgtctgagc tgccctcgga tttccaggag cgcgtgagcc tgcacatgga
      661 gaagcacggc tgcagcctgc catccccgct ctgccacccg gcctacgccg acagcgtccc
      721 cacctgcgtc attgccaagg tgctggagaa gccggacccc gccagcctgt cctcccgcct
      781 gtccgatgcc tccgcccgcg acctggcctt ctgcgacggg gtggagaaac caggcccgcg
      841 gcccccctac aagggagaca tctactgcag tgacacagcc ctctactgcc cggaggagcg
      901 gcggcgagac cggcggccta gcgtggacgc gcccgtgacc gacgtgggct tcctgcgggc
      961 ccagaactcc actgacagcg cggccgagga ggaggaggag gccgaggcgg cggccttccc
     1021 ggcgggcttc cagcatgagg ccttccccag ctacgcaggc tcactgccca cgtccagctc
     1081 ctactccagc ttcagcgcca cgtcggagga gaaggagcac gcgcaggcca gcacgctgac
     1141 cgcgtcgcag caggccatct acctgaacag ccgcgacgag ctcttcgacc gcaagccacc
     1201 cgccaccacc tacgagggca gccctcgctt tgccaaggcc acggccgcgg tggcggcccc
     1261 gctggaggcc gaagtggccc caggcttcgg gcggaccatg tcaccgtacc cggccgagac
     1321 cttccgcttc ccggcctctc cgggtcccca gcaggccctg atgcccccaa acctgtggag
     1381 cctgcgggcc aagccgggga ccgcccggct ccccggggag gacatgaggg gccagtggcg
     1441 tcccctgagc gtggaggaca tcggcgccta ctcctacccc gtgagcgctg ccggccgcgc
     1501 ctcaccctgc agcttctctg aacgctacta cggcggggcc gggggcagcc cgggcaagaa
     1561 ggccgacggc cgcgccagcc cgctctacgc cagctacaag gccgacagct tctccgaggg
     1621 ggacgacctc tcccagggcc acctggcaga gccctgcttc ctgcgggcgg gcggcgacct
     1681 gagcctcagt cccggccgct cggctgaccc actgcccggc tatgcaccca gcgagggggg
     1741 ggacggggac aggctcgggg tgcagctgtg tgggaccgcc agcagccctg agcccgagca
     1801 gggttccagg gactccttgg agccgagctc catggaggcc tccccggaaa tgcatcctgc
     1861 cgcccgcctc agcccccagc aggcctttcc gcggactggt ggctcggggc tgagccgcaa
     1921 ggacagcctc accaaggccc agctctacgg aaccttgctc aactgagcgc ctgcgtgcag
     1981 gcctggccgt ggttcgctcc ccgccagccc acgtgcccca gaagggccgg cctcacctct
     2041 ccccagcccc cgctgttccc ctgccccggc caacaacgag gagtctgttc ctccccgcac
     2101 ctcctctcct ccccagccct gtaggcctga ggggagggtc ccccacacca cggtgtccac
     2161 ccggccccgg cccgtggaac tccacttaga gcgtttttca cgcgtccttc ccccatgtga
     2221 gaggagcatc ccccctttta taaagcgaaa ctatttttat agagaaaaag ggtctttctt
     2281 aacgcacttg gcctccagct ccctggacgg ctgccttggc gttttcaaca caaagctcct
     2341 ttattttttg ggcgagggtg cgtggggcct gccccttgga agggaaggga aggacggtgt
     2401 cctgtggaga ccagactctg caagtgggga gaccaccccc gcaagccagt gacaagggag
     2461 ccctgaagtt gtgtccacga agagggagct gaaacaaatt cggggctatg aagtgtttta
     2521 aaaatccatt cttcgcagtg tggccaccac accgccctga gccctcccac ggcccatcgt
     2581 cccgggtggg ccgggatgat gccccagtgc ggccggtgct catctccgcc cccgggtccg
     2641 ccccctgaca ccgtcttact ctacctcaga catgaggagg ccctccattc ctggtttctg
     2701 tagcttgcat tcttgttgtc tctgatgcat gccctgccag ttagtactgt attttgcatt
     2761 cattaataaa agacaccggt ggaaagaa
//
