LOCUS       NM_001012978             777 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens brain expressed X-linked 5 (BEX5), transcript variant
            1, mRNA.
ACCESSION   NM_001012978 XM_291335
VERSION     NM_001012978.3
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 777)
  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   2  (bases 1 to 777)
  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   3  (bases 1 to 777)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 777)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (bases 1 to 777)
  AUTHORS   Zhang,L.
  TITLE     Adaptive evolution and frequent gene conversion in the brain
            expressed X-linked gene family in mammals
  JOURNAL   Biochem Genet 46 (5-6), 293-311 (2008)
   PUBMED   18236150
REFERENCE   6  (bases 1 to 777)
  AUTHORS   Winter,E.E. and Ponting,C.P.
  TITLE     Mammalian BEX, WEX and GASP genes: coding and non-coding chimaerism
            sustained by gene conversion events
  JOURNAL   BMC Evol Biol 5, 54 (2005)
   PUBMED   16221301
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 777)
  AUTHORS   Alvarez,E., Zhou,W., Witta,S.E. and Freed,C.R.
  TITLE     Characterization of the Bex gene family in humans, mice, and rats
  JOURNAL   Gene 357 (1), 18-28 (2005)
   PUBMED   15958283
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC106955.2 and AY833564.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001012978.2.
            
            Transcript Variant: This variant (1) represents the shorter
            transcript. Both variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.182594.1,
                                           SRR5189652.45374.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000333643.4/ ENSP00000328030.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                BC106955.2         38-52
            16-777              AY833564.1         1-762
FEATURES             Location/Qualifiers
     source          1..777
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.1"
     gene            1..777
                     /gene="BEX5"
                     /gene_synonym="NGFRAP1L1"
                     /note="brain expressed X-linked 5"
                     /db_xref="GeneID:340542"
                     /db_xref="HGNC:HGNC:27990"
                     /db_xref="MIM:300693"
     exon            1..119
                     /gene="BEX5"
                     /gene_synonym="NGFRAP1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            120..186
                     /gene="BEX5"
                     /gene_synonym="NGFRAP1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            187..777
                     /gene="BEX5"
                     /gene_synonym="NGFRAP1L1"
                     /inference="alignment:Splign:2.1.0"
     CDS             224..559
                     /gene="BEX5"
                     /gene_synonym="NGFRAP1L1"
                     /note="BEX family member 5; NGFRAP1-like 1; nerve growth
                     factor receptor-associated protein 2; NGFRAP1-like protein
                     1; brain-expressed X-linked protein 5"
                     /codon_start=1
                     /product="protein BEX5"
                     /protein_id="NP_001012996.1"
                     /db_xref="CCDS:CCDS35350.1"
                     /db_xref="GeneID:340542"
                     /db_xref="HGNC:HGNC:27990"
                     /db_xref="MIM:300693"
                     /translation="MENVPKENKVVEKAPVQNEAPALGGGEYQEPGGNVKGVWAPPAP
                     GFGEDVPNRLVDNIDMIDGDGDDMERFMEEMRELRRKIRELQLRYSLRILIGDPPHHD
                     HHDEFCLMP"
     regulatory      758..763
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BEX5"
                     /gene_synonym="NGFRAP1L1"
                     /note="hexamer: AATAAA"
     polyA_site      777
                     /gene="BEX5"
                     /gene_synonym="NGFRAP1L1"
                     /note="major polyA site"
ORIGIN      
        1 agttgcagtc tggtagttgt cgctggccgt gtgacggctc gctgttgccc tgaaggcagg
       61 cgagccagct gcccaggaaa ggtggaaagt ggtagaagct gacccctgag ccctggcagg
      121 tctttaagtg cgtttgtgca gccgatttca aggctaagag agaaagactg cctctgatcc
      181 ctgaaggaag aaaaaaaaaa aaaaaacagg aaaaaaactc aacatggaaa atgtccccaa
      241 ggaaaacaaa gttgtggaga aggccccagt gcagaatgaa gcccccgctt taggaggtgg
      301 tgaataccag gagcctggag gaaatgttaa aggggtttgg gctccacctg ccccgggttt
      361 tggagaggat gtgcccaata ggcttgtcga taacattgat atgatagatg gagatggaga
      421 tgatatggaa cggttcatgg aggagatgag agagctaagg aggaaaatta gggaacttca
      481 gttgaggtac agtctgcgca ttcttatagg ggaccctcct caccatgatc atcatgatga
      541 gttttgcctt atgccttgaa tcttgaggtt aataatcata aaatccctgc tttctaaatt
      601 cgcatttttc ctggtgtacc tttaatgtga accttttggc attcttctgc aattttctga
      661 ttggagattg cattttgacc tagtctgtaa gtttttctgt cagaagagga ctttcatcaa
      721 ctttcatgga aagatgttta ttgcatactg taaagttaat aaagcaattt aaaagca
//
