LOCUS       NM_001145784             992 bp    mRNA    linear   PRI 21-OCT-2024
DEFINITION  Homo sapiens BLOC-1 related complex subunit 8 (BORCS8), transcript
            variant 1, mRNA.
ACCESSION   NM_001145784
VERSION     NM_001145784.2
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 992)
  AUTHORS   De Pace,R., Maroofian,R., Paimboeuf,A., Zamani,M., Zaki,M.S.,
            Sadeghian,S., Azizimalamiri,R., Galehdari,H., Zeighami,J.,
            Williamson,C.D., Fleming,E., Zhou,D., Gannon,J.L., Thiffault,I.,
            Roze,E., Suri,M., Zifarelli,G., Bauer,P., Houlden,H., Severino,M.,
            Patten,S.A., Farrow,E. and Bonifacino,J.S.
  TITLE     Biallelic BORCS8 variants cause an infantile-onset
            neurodegenerative disorder with altered lysosome dynamics
  JOURNAL   Brain 147 (5), 1751-1767 (2024)
   PUBMED   38128568
  REMARK    GeneRIF: Biallelic BORCS8 variants cause an infantile-onset
            neurodegenerative disorder with altered lysosome dynamics.
REFERENCE   2  (bases 1 to 992)
  AUTHORS   Tunganuntarat,J., Kanjanasirirat,P., Khumpanied,T.,
            Benjaskulluecha,S., Wongprom,B., Palaga,T., Siregar,T.A.P.,
            Borwornpinyo,S., Chaiprasert,A., Palittapongarnpim,P. and
            Ponpuak,M.
  TITLE     BORC complex specific components and Kinesin-1 mediate autophagy
            evasion by the autophagy-resistant Mycobacterium tuberculosis
            Beijing strain
  JOURNAL   Sci Rep 13 (1), 1663 (2023)
   PUBMED   36717601
  REMARK    GeneRIF: BORC complex specific components and Kinesin-1 mediate
            autophagy evasion by the autophagy-resistant Mycobacterium
            tuberculosis Beijing strain.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 992)
  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 992)
  AUTHORS   Yordanov,T.E., Hipolito,V.E.B., Liebscher,G., Vogel,G.F.,
            Stasyk,T., Herrmann,C., Geley,S., Teis,D., Botelho,R.J., Hess,M.W.
            and Huber,L.A.
  TITLE     Biogenesis of lysosome-related organelles complex-1 (BORC)
            regulates late endosomal/lysosomal size through PIKfyve-dependent
            phosphatidylinositol-3,5-bisphosphate
  JOURNAL   Traffic 20 (9), 674-696 (2019)
   PUBMED   31314175
REFERENCE   5  (bases 1 to 992)
  AUTHORS   Yachie,N., Petsalaki,E., Mellor,J.C., Weile,J., Jacob,Y., Verby,M.,
            Ozturk,S.B., Li,S., Cote,A.G., Mosca,R., Knapp,J.J., Ko,M., Yu,A.,
            Gebbia,M., Sahni,N., Yi,S., Tyagi,T., Sheykhkarimli,D., Roth,J.F.,
            Wong,C., Musa,L., Snider,J., Liu,Y.C., Yu,H., Braun,P.,
            Stagljar,I., Hao,T., Calderwood,M.A., Pelletier,L., Aloy,P.,
            Hill,D.E., Vidal,M. and Roth,F.P.
  TITLE     Pooled-matrix protein interaction screens using Barcode Fusion
            Genetics
  JOURNAL   Mol Syst Biol 12 (4), 863 (2016)
   PUBMED   27107012
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 992)
  AUTHORS   Pu,J., Schindler,C., Jia,R., Jarnik,M., Backlund,P. and
            Bonifacino,J.S.
  TITLE     BORC, a multisubunit complex that regulates lysosome positioning
  JOURNAL   Dev Cell 33 (2), 176-188 (2015)
   PUBMED   25898167
REFERENCE   7  (bases 1 to 992)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   8  (bases 1 to 992)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 992)
  AUTHORS   Iida,K., Hidaka,K., Takeuchi,M., Nakayama,M., Yutani,C., Mukai,T.
            and Morisaki,T.
  TITLE     Expression of MEF2 genes during human cardiac development
  JOURNAL   Tohoku J Exp Med 187 (1), 15-23 (1999)
   PUBMED   10458488
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA440390.1, BC004449.1, BC010931.1 and CA421006.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001145784.1.
            
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC010931.1, DA261831.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000462790.8/ ENSP00000425864.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                DA440390.1         441-452
            13-116              BC004449.1         1-104
            117-987             BC010931.1         121-991
            988-992             CA421006.1         21-25               c
FEATURES             Location/Qualifiers
     source          1..992
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..992
                     /gene="BORCS8"
                     /gene_synonym="MEF2BNB; NDOABA"
                     /note="BLOC-1 related complex subunit 8"
                     /db_xref="GeneID:729991"
                     /db_xref="HGNC:HGNC:37247"
                     /db_xref="MIM:616601"
     exon            1..72
                     /gene="BORCS8"
                     /gene_synonym="MEF2BNB; NDOABA"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..395
                     /gene="BORCS8"
                     /gene_synonym="MEF2BNB; NDOABA"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein MEF2BNB; MEF2B neighbor gene protein"
                     /codon_start=1
                     /product="BLOC-1-related complex subunit 8 isoform 1"
                     /protein_id="NP_001139256.1"
                     /db_xref="CCDS:CCDS46025.1"
                     /db_xref="GeneID:729991"
                     /db_xref="HGNC:HGNC:37247"
                     /db_xref="MIM:616601"
                     /translation="MEEPEMQLKGKKVTDKFTESVYVLANEPSVALYRLQEHVRRSLP
                     ELAQHKADMQRWEEQSQGAIYTVEYACSAVKNLVDSSVYFRSVEGLLKQAISIRDHMN
                     ASAQGHSPEEPPPPSSA"
     exon            73..185
                     /gene="BORCS8"
                     /gene_synonym="MEF2BNB; NDOABA"
                     /inference="alignment:Splign:2.1.0"
     exon            186..250
                     /gene="BORCS8"
                     /gene_synonym="MEF2BNB; NDOABA"
                     /inference="alignment:Splign:2.1.0"
     exon            251..361
                     /gene="BORCS8"
                     /gene_synonym="MEF2BNB; NDOABA"
                     /inference="alignment:Splign:2.1.0"
     exon            362..437
                     /gene="BORCS8"
                     /gene_synonym="MEF2BNB; NDOABA"
                     /inference="alignment:Splign:2.1.0"
     exon            438..992
                     /gene="BORCS8"
                     /gene_synonym="MEF2BNB; NDOABA"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      992
                     /gene="BORCS8"
                     /gene_synonym="MEF2BNB; NDOABA"
                     /note="major polyA site"
ORIGIN      
        1 ggtgccgttt cccggttcgc tcggccgcgg tcgctatgga ggagccggag atgcagctca
       61 aggggaagaa agtcacggac aagttcactg agagcgtcta cgtcctggcc aacgagccat
      121 ccgtggccct gtaccggctg caggagcatg tgcgtcgctc cctccccgag ctggcccagc
      181 acaaggcaga catgcagcgt tgggaggagc agagccaggg agccatctac actgtggagt
      241 acgcctgcag cgccgtgaag aacctggtgg acagcagcgt ctacttccgc agcgtggagg
      301 gtctgctcaa acaggccatc agcatccggg accatatgaa tgccagtgcc cagggccaca
      361 gcccggagga accacccccg ccctcctcag cctgatcctg gaagagactc ggggcccccc
      421 agcctccgcc aacccagaga cggggtttca ccatgttggc taggctggtc tcaaactcct
      481 gagctcgtga tcctcccgcc tcagcctccc aaagtgctgg gattataggt gtgagccacc
      541 gcacccagcc ttggttctcc ctttcttcat ctggataagg aaggctggac tgcaccttct
      601 ctacaggctg agttggacat tcgcagatct accctcccaa cctgcattct gcctcaagca
      661 gcaacgccca ccccaggctc aggccacatg gagaagccac ccctagttcc agtggtggat
      721 gtggcacctc ggcctggcca atcagagctc ccttgtccta ggttcctagt gattggtttg
      781 agatggacac gtgacccaat gagcgacctt tcctgggagt tctaccagga gcatcaggaa
      841 ggttgagctg ggtgtatggg aaccaggccg gggcgagggg ttccgggggg acctgagaac
      901 attgtgtgga gccctggatc caactgtacc tgacactagc caatttcatt tcttcagttt
      961 catggacccc taaattatga tttttgccaa aa
//
