LOCUS       NM_001242818            3620 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens differentially expressed in FDCP 8 homolog (DEF8),
            transcript variant 5, mRNA.
ACCESSION   NM_001242818
VERSION     NM_001242818.2
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 3620)
  AUTHORS   Tanaka,M.T., Miki,Y., Bettencourt,C., Ozaki,T., Tanji,K., Mori,F.,
            Kakita,A. and Wakabayashi,K.
  TITLE     Involvement of autophagic protein DEF8 in Lewy bodies
  JOURNAL   Biochem Biophys Res Commun 623, 170-175 (2022)
   PUBMED   35921708
  REMARK    GeneRIF: Involvement of autophagic protein DEF8 in Lewy bodies.
REFERENCE   2  (bases 1 to 3620)
  AUTHORS   Leyton,E., Matus,D., Espinoza,S., Benitez,J.M., Cortes,B.I.,
            Gomez,W., Arevalo,N.B., Murgas,P., Manque,P., Woehlbier,U.,
            Duran-Aniotz,C., Hetz,C., Behrens,M.I., SanMartin,C.D. and
            Nassif,M.
  TITLE     DEF8 and Autophagy-Associated Genes Are Altered in Mild Cognitive
            Impairment, Probable Alzheimer's Disease Patients, and a Transgenic
            Model of the Disease
  JOURNAL   J Alzheimers Dis 82 (s1), S163-S178 (2021)
   PUBMED   33612542
  REMARK    GeneRIF: DEF8 and Autophagy-Associated Genes Are Altered in Mild
            Cognitive Impairment, Probable Alzheimer's Disease Patients, and a
            Transgenic Model of the Disease.
REFERENCE   3  (bases 1 to 3620)
  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   4  (bases 1 to 3620)
  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   5  (bases 1 to 3620)
  AUTHORS   Fujiwara,T., Ye,S., Castro-Gomes,T., Winchell,C.G., Andrews,N.W.,
            Voth,D.E., Varughese,K.I., Mackintosh,S.G., Feng,Y., Pavlos,N.,
            Nakamura,T., Manolagas,S.C. and Zhao,H.
  TITLE     PLEKHM1/DEF8/RAB7 complex regulates lysosome positioning and bone
            homeostasis
  JOURNAL   JCI Insight 1 (17), e86330 (2016)
   PUBMED   27777970
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC332872.1, AK225539.1 and AK055099.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001242818.1.
            
            Transcript Variant: This variant (5) uses an alternate splice site
            in the 5' UTR, compared to variant 1. This difference causes
            translation initiation at an in-frame downstream start codon,
            compared to variant 1. The encoded protein (isoform 5) has a
            shorter N-terminus, compared to isoform 1. Variants 5 and 7 encode
            the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK225539.1, SRR1803612.144919.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000563594.6/ ENSP00000458019.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-35                DC332872.1         25-59
            36-2013             AK225539.1         1-1978
            2014-2014           AK055099.1         1175-1175
            2015-2589           AK225539.1         1980-2554
            2590-2590           AK055099.1         1751-1751
            2591-3620           AK225539.1         2556-3585
FEATURES             Location/Qualifiers
     source          1..3620
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     gene            1..3620
                     /gene="DEF8"
                     /note="differentially expressed in FDCP 8 homolog"
                     /db_xref="GeneID:54849"
                     /db_xref="HGNC:HGNC:25969"
     exon            1..60
                     /gene="DEF8"
                     /inference="alignment:Splign:2.1.0"
     exon            61..157
                     /gene="DEF8"
                     /inference="alignment:Splign:2.1.0"
     exon            158..291
                     /gene="DEF8"
                     /inference="alignment:Splign:2.1.0"
     CDS             168..1523
                     /gene="DEF8"
                     /note="isoform 5 is encoded by transcript variant 5;
                     DEF-8"
                     /codon_start=1
                     /product="differentially expressed in FDCP 8 homolog
                     isoform 5"
                     /protein_id="NP_001229747.1"
                     /db_xref="CCDS:CCDS58493.1"
                     /db_xref="GeneID:54849"
                     /db_xref="HGNC:HGNC:25969"
                     /translation="MEYDEKLARFRQAHLNPFNKQSGPRQHEQGPGEEVPDVTPEEAL
                     PELPPGEPEFRCPERVMDLGLSEDHFSRPVGLFLASDVQQLRQAIEECKQVILELPEQ
                     SEKQKDAVVRLIHLRLKLQELKDPNEDEPNIRVLLEHRFYKEKSKSVKQTCDKCNTII
                     WGLIQTWYTCTGCYYRCHSKCLNLISKPCVSSKVSHQAEYELNICPETGLDSQDYRCA
                     ECRAPISLRGVPSEARQCDYTGQYYCSHCHWNDLAVIPARVVHNWDFEPRKVSRCSMR
                     YLALMVSRPVLRLREINPLLFSYVEELVEIRKLRQDILLMKPYFITCREAMEARLLLQ
                     LQDRQHFVENDEMYSVQDLLDVHAGRLGCSLTEIHTLFAKHIKLDCERCQAKGFVCEL
                     CREGDVLFPFDSHTSVCADCSAVFHRDCYYDNSTTCPKCARLSLRKQSLFQEPGPDVE
                     A"
     exon            292..389
                     /gene="DEF8"
                     /inference="alignment:Splign:2.1.0"
     exon            390..539
                     /gene="DEF8"
                     /inference="alignment:Splign:2.1.0"
     exon            540..681
                     /gene="DEF8"
                     /inference="alignment:Splign:2.1.0"
     exon            682..846
                     /gene="DEF8"
                     /inference="alignment:Splign:2.1.0"
     exon            847..974
                     /gene="DEF8"
                     /inference="alignment:Splign:2.1.0"
     exon            975..1088
                     /gene="DEF8"
                     /inference="alignment:Splign:2.1.0"
     exon            1089..1169
                     /gene="DEF8"
                     /inference="alignment:Splign:2.1.0"
     exon            1170..1310
                     /gene="DEF8"
                     /inference="alignment:Splign:2.1.0"
     exon            1311..1420
                     /gene="DEF8"
                     /inference="alignment:Splign:2.1.0"
     exon            1421..3620
                     /gene="DEF8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3602..3607
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DEF8"
                     /note="hexamer: ATTAAA"
     polyA_site      3620
                     /gene="DEF8"
                     /note="major polyA site"
ORIGIN      
        1 gtagcggggc ggccgggcgg atccagcgca gccgggagac agatgcgagg cggcggtcag
       61 caggtgccga acccacggcc aggcttccgt ggccagcagc cctagaggaa tggccatcct
      121 gtccctgcga gcccctgggc cctggcaggc gatgcaggtg ggatgctatg gaatatgatg
      181 agaagctggc ccgtttccgg caggcccacc tcaacccctt caacaagcag tctgggccga
      241 gacagcatga gcagggccct ggggaggagg tcccggacgt cactcctgaa gaggccctgc
      301 ctgagctgcc ccctggggag ccggaattcc gctgccctga acgcgtgatg gatctcggcc
      361 tgtctgagga ccacttctcc cgccctgtgg gtctgttcct ggcctctgac gtccagcagc
      421 tgcggcaggc gatcgaggag tgcaagcagg tgattctgga gctgcccgag cagtcggaga
      481 agcagaagga tgccgtggtg cgactcatcc acctccggct gaagctccag gagctgaagg
      541 accccaatga ggatgagcca aacatccgag tgctccttga gcaccgcttt tacaaggaga
      601 agagcaagag cgtcaagcag acctgtgaca agtgtaacac catcatctgg gggctcattc
      661 agacctggta cacctgcaca gggtgttatt accgctgtca cagtaagtgc ttgaacctca
      721 tctccaagcc ctgtgtgagc tccaaagtca gccaccaagc tgaatacgaa ctgaacatct
      781 gccctgagac agggctggac agccaggatt accgctgtgc cgagtgccgg gcgcccatct
      841 ctctgcgggg tgtgcccagt gaggccaggc agtgcgacta caccggccag tactactgca
      901 gccactgcca ctggaacgac ctggctgtga tccctgcacg cgttgtacac aactgggact
      961 ttgagcctcg aaaggtttct cgctgcagca tgcgctacct ggcgctgatg gtgtctcggc
     1021 ccgtactcag gctccgggag atcaaccctc tgctgttcag ctacgtggag gagctggtgg
     1081 agattcgcaa gctgcgccag gacatcctgc tcatgaagcc gtacttcatc acctgcaggg
     1141 aggccatgga ggctcgtctg ctgctgcagc tccaggatcg gcagcatttt gtggagaacg
     1201 acgagatgta ctctgtccag gacctcctgg acgtgcatgc cggccgcctg ggctgctcgc
     1261 tcaccgagat ccacacgctc ttcgccaagc acatcaagct ggactgcgag cggtgccagg
     1321 ccaagggctt cgtgtgtgag ctctgcagag agggcgacgt gctgttcccg ttcgacagcc
     1381 acacgtctgt gtgcgccgac tgctccgcgg tcttccacag ggactgctac tacgacaact
     1441 ccaccacttg tcccaagtgt gcccggctca gcctgaggaa gcagtcgctc ttccaggagc
     1501 caggtcccga tgtggaggcc tagcgccgag gaacagtgct gggcaccccg cctggcccgc
     1561 caggacccac cctgccaaca tcaagttgtt ccttctgctc cggagacccc tggggtgcgg
     1621 ccctggcccc ctccacccct gctgggccag agcgggtggg cagtgtcaag gcccgctgtc
     1681 tcccaggtgc ttgctgggac tcggggcggc tgcacctggc tgtcacctgg gtgtgctgct
     1741 gtgaggggtc cttgcgtggc ccccatcctt cccccaatgc agaactccat gggcagggag
     1801 ctggggggac atctcacctc ccccatggca cagagccctc cacacccctg gaccagggca
     1861 tccgggccct agaaattcca cagctcccgt cctggccacc ctggaagctc atcaggccaa
     1921 gacccggaca gagcttcaga ggagtgttga gtgacacctg aggatgcggc tgcacacact
     1981 cagccaaggg ccgagtctca cctgcggtgg ggtgtcggct ctgcctgggg gctccatccc
     2041 tttcagccac tcgtggcctt ggggatttct ggttgtcccc agctgggact gttcacagtt
     2101 gtcacctgca gacctgcctc tccctggcct gaggttcaaa ggcctcatcg gatggtcagt
     2161 acagtggggt cacctgttgt ttctatacaa cagcagggaa ggggccatgg agcttttccc
     2221 tgctgggtgc tcctgctttg gcccagccca cctttcctgg tgctccaagc taggaggctg
     2281 tggccccagc ctgaggaggg tgtcctggcc tccaggtgtg cagcaggggc tgtgtgctgg
     2341 gggaggttcc agttaggcga tgggatcctg cagtggtctg gtggcatttc ttggaaccag
     2401 atttacctga ggagctctgt cctgctccct gtggagggct ccagatagct cagaaatgac
     2461 cagccaatgg ccttttgttt gggggcctga ggtcaagaga gctgagagta ttcgctcgac
     2521 tgagcacatt caggaagatc agggcaggcg tgtgggaggt ccctcactcc acgggacaga
     2581 ggcccctggg cagcagagga aacctacagc tctgggtgag gggacacttg gctttggtgt
     2641 ttgcacttta cagatcctgc ggtccacgag gggcctcagg agaggacgtg tcaggacgtg
     2701 gcttcccagc cttctgcctt gggcagtggg ggtgctcctg tctgtccttt tcccccacac
     2761 cctggactgt gcttggctgt tggtgcacat ggttggcaca cggtgggcag agggcagaga
     2821 atgccactgc ttggttattg gtcccctttg accaggaaac ccaagaggag acacctcagt
     2881 cagcagaaag gccacctggc tcactggctc attccaggag tgggagagac ggcagggtct
     2941 cctctttgtc ctccggcatc aggaagggga tggtgtccac tccccactgt ggtggcttta
     3001 ggcaaggttc ttattgtctg ctctgcctcg gtttccccat ctggaaaatg ggggcagggg
     3061 tcctgaccta cctcaggtgg aacggtgagc agggaacatg tcggagtcct tcagagaatg
     3121 tgatgtgagg ttggatcaac agtgtgggtt cctgtcctgt ttccccttcc tctttggggc
     3181 tgaggaggag gttaaaggcc aaatgctgtt tcccaacacc ccaaagtctg cacacgtctc
     3241 atgaatgcat cacatttctg tcatatggat attagccatt ccgaaatctg tgtaatcaac
     3301 ttcacattat tcaagttaca aatcactgtg tccatagaaa aactgtgctg gtatttgctg
     3361 gacaaagggt tgggcccctt ttatttttac ctgccaccca gcatctcccc cacctgcccc
     3421 ttctgggtga cacagccggt aaacggaatc acgtatggtt ctttctgtgg gtctgtggca
     3481 cagcaggaag agcccggtgc cgccagcacc ttgtggaaga ccacacatgg gtggtcccac
     3541 agcatgggac caggctggcc tgagggatgc ccagttgtaa caatgctgct gtcactgtct
     3601 cattaaatat acatccttta
//
