LOCUS       NM_014773               4907 bp    mRNA    linear   PRI 04-DEC-2024
DEFINITION  Homo sapiens DAP3 binding cell death enhancer 1 (DELE1), transcript
            variant 1, mRNA.
ACCESSION   NM_014773
VERSION     NM_014773.5
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 4907)
  AUTHORS   Chakrabarty,Y., Yang,Z., Chen,H. and Chan,D.C.
  TITLE     The HRI branch of the integrated stress response selectively
            triggers mitophagy
  JOURNAL   Mol Cell 84 (6), 1090-1100 (2024)
   PUBMED   38340717
REFERENCE   2  (bases 1 to 4907)
  AUTHORS   Spinella,J.F., Chagraoui,J., Moison,C., Lavallee,V.P., Boivin,I.,
            Gracias,D., Lavallee,S., Carpentier,G.R., Beliveau,F., Hebert,J.
            and Sauvageau,G.
  TITLE     DELE1 haploinsufficiency causes resistance to mitochondrial
            stress-induced apoptosis in monosomy 5/del(5q) AML
  JOURNAL   Leukemia 38 (3), 530-537 (2024)
   PUBMED   38102204
  REMARK    GeneRIF: DELE1 haploinsufficiency causes resistance to
            mitochondrial stress-induced apoptosis in monosomy 5/del(5q) AML.
REFERENCE   3  (bases 1 to 4907)
  AUTHORS   Fu,Y., Sacco,O., DeBitetto,E., Kanshin,E., Ueberheide,B. and
            Sfeir,A.
  TITLE     Mitochondrial DNA breaks activate an integrated stress response to
            reestablish homeostasis
  JOURNAL   Mol Cell 83 (20), 3740-3753 (2023)
   PUBMED   37832546
REFERENCE   4  (bases 1 to 4907)
  AUTHORS   Yang,J., Baron,K.R., Pride,D.E., Schneemann,A., Guo,X., Chen,W.,
            Song,A.S., Aviles,G., Kampmann,M., Wiseman,R.L. and Lander,G.C.
  TITLE     DELE1 oligomerization promotes integrated stress response
            activation
  JOURNAL   Nat Struct Mol Biol 30 (9), 1295-1302 (2023)
   PUBMED   37550454
REFERENCE   5  (bases 1 to 4907)
  AUTHORS   Sekine,Y., Houston,R., Eckl,E.M., Fessler,E., Narendra,D.P.,
            Jae,L.T. and Sekine,S.
  TITLE     A mitochondrial iron-responsive pathway regulated by DELE1
  JOURNAL   Mol Cell 83 (12), 2059-2076 (2023)
   PUBMED   37327776
REFERENCE   6  (bases 1 to 4907)
  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   7  (bases 1 to 4907)
  AUTHORS   Guo,X., Aviles,G., Liu,Y., Tian,R., Unger,B.A., Lin,Y.T.,
            Wiita,A.P., Xu,K., Correia,M.A. and Kampmann,M.
  TITLE     Mitochondrial stress is relayed to the cytosol by an OMA1-DELE1-HRI
            pathway
  JOURNAL   Nature 579 (7799), 427-432 (2020)
   PUBMED   32132707
  REMARK    GeneRIF: mitochondrial stress is relayed to the cytosol by an
            OMA1-DELE1-HRI pathway; the OMA1-DELE1-HRI pathway represents a
            potential therapeutic target that could enable fine-tuning of the
            integrated stress response for beneficial outcomes in diseases that
            involve mitochondrial dysfunction
REFERENCE   8  (bases 1 to 4907)
  AUTHORS   Fessler,E., Eckl,E.M., Schmitt,S., Mancilla,I.A.,
            Meyer-Bender,M.F., Hanf,M., Philippou-Massier,J., Krebs,S.,
            Zischka,H. and Jae,L.T.
  TITLE     A pathway coordinated by DELE1 relays mitochondrial stress to the
            cytosol
  JOURNAL   Nature 579 (7799), 433-437 (2020)
   PUBMED   32132706
  REMARK    GeneRIF: the mitochondrial protease OMA1 and the poorly
            characterized protein DELE1, together with HRI, constitute the
            missing pathway that is triggered by mitochondrial stress; these
            findings could be used to inform future strategies to modulate the
            cellular response to mitochondrial dysfunction in the context of
            human disease
REFERENCE   9  (bases 1 to 4907)
  AUTHORS   Harada,T., Iwai,A. and Miyazaki,T.
  TITLE     Identification of DELE, a novel DAP3-binding protein which is
            crucial for death receptor-mediated apoptosis induction
  JOURNAL   Apoptosis 15 (10), 1247-1255 (2010)
   PUBMED   20563667
  REMARK    GeneRIF: identifies a novel DAP3-binding protein termed death
            ligand signal enhancer (DELE); demonstrates the biological
            significance of DELE for apoptosis signal mediated by death
            receptors
REFERENCE   10 (bases 1 to 4907)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CN307416.1, BC035486.1, AC005740.1, KC877127.1 and AA760689.1.
            
            On Nov 22, 2018 this sequence version replaced NM_014773.4.
            
            Transcript Variant: This variant (1) represents the longer and the
            predominant transcript. Transcript variants 1 and 2 encode the same
            protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: SRR1803611.54180.1,
                                           SRR1803615.89889.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 20563667; reported by
                                                  MitoCarta
            MANE Ensembl match                 :: ENST00000432126.7/
                                                  ENSP00000396225.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-541               CN307416.1         88-628
            542-3012            BC035486.1         509-2979
            3013-4464           AC005740.1         127195-128646       c
            4465-4465           KC877127.1         280-280
            4466-4907           AA760689.1         31-472              c
FEATURES             Location/Qualifiers
     source          1..4907
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     gene            1..4907
                     /gene="DELE1"
                     /gene_synonym="DELE; DELE1(L); KIAA0141"
                     /note="DAP3 binding cell death enhancer 1"
                     /db_xref="GeneID:9812"
                     /db_xref="HGNC:HGNC:28969"
                     /db_xref="MIM:615741"
     exon            1..102
                     /gene="DELE1"
                     /gene_synonym="DELE; DELE1(L); KIAA0141"
                     /inference="alignment:Splign:2.1.0"
     CDS             72..1619
                     /gene="DELE1"
                     /gene_synonym="DELE; DELE1(L); KIAA0141"
                     /note="death ligand signal enhancer; DAP3-binding cell
                     death enhancer 1, long form"
                     /codon_start=1
                     /product="death ligand signal enhancer precursor"
                     /protein_id="NP_055588.3"
                     /db_xref="CCDS:CCDS4268.1"
                     /db_xref="GeneID:9812"
                     /db_xref="HGNC:HGNC:28969"
                     /db_xref="MIM:615741"
                     /translation="MWRLPGLLGRALPRTLGPSLWRVTPKSTSPDGPQTTSSTLLVPV
                     PNLDRSGPHGPGTSGGPRSHGWKDAFQWMSSRVSPNTLWDAISWGTLAVLALQLARQI
                     HFQASLPAGPQRVEHCSWHSPLDRFFSSPLWHPCSSLRQHILPSPDGPAPRHTGLREP
                     RLGQEEASAQPRNFSHNSLRGARPQDPSEEGPGDFGFLHASSSIESEAKPAQPQPTGE
                     KEQDKSKTLSLEEAVTSIQQLFQLSVSIAFNFLGTENMKSGDHTAAFSYFQKAAARGY
                     SKAQYNAGLCHEHGRGTPRDISKAVLYYQLAASQGHSLAQYRYARCLLRDPASSWNPE
                     RQRAVSLLKQAADSGLREAQAFLGVLFTKEPYLDEQRAVKYLWLAANNGDSQSRYHLG
                     ICYEKGLGVQRNLGEALRCYQQSAALGNEAAQERLRALFSMGAAAPGPSDLTVTGLKS
                     FSSPSLCSLNTLLAGTSRLPHASSTGNLGLLCRSGHLGASLEASSRAIPPHPYPLERS
                     VVRLGFG"
     exon            103..217
                     /gene="DELE1"
                     /gene_synonym="DELE; DELE1(L); KIAA0141"
                     /inference="alignment:Splign:2.1.0"
     exon            218..335
                     /gene="DELE1"
                     /gene_synonym="DELE; DELE1(L); KIAA0141"
                     /inference="alignment:Splign:2.1.0"
     exon            336..483
                     /gene="DELE1"
                     /gene_synonym="DELE; DELE1(L); KIAA0141"
                     /inference="alignment:Splign:2.1.0"
     exon            484..642
                     /gene="DELE1"
                     /gene_synonym="DELE; DELE1(L); KIAA0141"
                     /inference="alignment:Splign:2.1.0"
     exon            643..728
                     /gene="DELE1"
                     /gene_synonym="DELE; DELE1(L); KIAA0141"
                     /inference="alignment:Splign:2.1.0"
     exon            729..825
                     /gene="DELE1"
                     /gene_synonym="DELE; DELE1(L); KIAA0141"
                     /inference="alignment:Splign:2.1.0"
     exon            826..968
                     /gene="DELE1"
                     /gene_synonym="DELE; DELE1(L); KIAA0141"
                     /inference="alignment:Splign:2.1.0"
     exon            969..1127
                     /gene="DELE1"
                     /gene_synonym="DELE; DELE1(L); KIAA0141"
                     /inference="alignment:Splign:2.1.0"
     exon            1128..1220
                     /gene="DELE1"
                     /gene_synonym="DELE; DELE1(L); KIAA0141"
                     /inference="alignment:Splign:2.1.0"
     exon            1221..1380
                     /gene="DELE1"
                     /gene_synonym="DELE; DELE1(L); KIAA0141"
                     /inference="alignment:Splign:2.1.0"
     exon            1381..4907
                     /gene="DELE1"
                     /gene_synonym="DELE; DELE1(L); KIAA0141"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2987..2992
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DELE1"
                     /gene_synonym="DELE; DELE1(L); KIAA0141"
                     /note="hexamer: AATAAA"
     polyA_site      3012
                     /gene="DELE1"
                     /gene_synonym="DELE; DELE1(L); KIAA0141"
                     /note="major polyA site"
     regulatory      4884..4889
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DELE1"
                     /gene_synonym="DELE; DELE1(L); KIAA0141"
                     /note="hexamer: AATAAA"
     polyA_site      4907
                     /gene="DELE1"
                     /gene_synonym="DELE; DELE1(L); KIAA0141"
ORIGIN      
        1 ctttctagcc gctgtcccaa gggttggtct cgcgctttcg gctgcgagct ctctgtggtg
       61 ctggcagcga catgtggcgc ctcccgggac tcctgggccg agctcttccc cgtacactgg
      121 gacctagcct ctggagggtg actcctaagt ccaccagccc agatgggcct cagactacct
      181 cctccacttt gctggttcct gtgcctaacc tcgacaggtc aggtccccat ggcccaggca
      241 cgagcggggg tccaaggtcc catggatgga aggatgcctt ccaatggatg tcttcccgtg
      301 tctccccgaa caccctatgg gatgccatat cttggggcac tctggccgtg ctggccctgc
      361 agctggcaag gcagatccac ttccaggcat ccctgccagc aggacctcag cgggtagaac
      421 actgctcctg gcacagtccc ctggaccgtt tcttctcatc tcccttgtgg cacccatgct
      481 cctcactgcg acaacacatc ctccccagcc ccgatggccc agctcccagg cacactggcc
      541 tcagggaacc caggcttggc caggaagaag cctcagctca gccccggaac ttctcacaca
      601 actctttgag aggagctcgt cctcaggacc cctctgagga aggtcccggt gattttggct
      661 tcctgcatgc cagtagtagc atcgagtccg aggcaaaacc agcccagcct cagcccactg
      721 gtgaaaagga acaagataaa tcaaaaactc tttcccttga ggaggctgtg acttccattc
      781 agcagctctt ccagctcagt gtttccatcg ctttcaactt cctgggaaca gagaacatga
      841 agagtggcga ccacacggca gccttttctt acttccagaa agctgcagcc cgcggctaca
      901 gcaaagcgca gtacaatgcg ggcttgtgtc atgagcatgg cagaggcacc cccagggaca
      961 ttagcaaggc ggtcctttat tatcagttgg ctgccagcca gggccacagc ctggctcagt
     1021 accgctatgc caggtgccta ctacgagacc cagcctcttc gtggaaccct gagcggcaga
     1081 gggcagtgtc cttgctgaag caggctgcag actcaggctt gagagaggcc caagctttcc
     1141 tcggggtgct tttcaccaag gagccctacc tggatgagca gagagctgtg aaatatcttt
     1201 ggcttgcagc caacaatggg gactcacaga gcaggtacca ccttggaatt tgctatgaga
     1261 aaggccttgg tgtgcagagg aatctgggag aggccttgag atgttaccag cagtcagccg
     1321 ctctgggaaa tgaggccgcc caggagaggc tgcgagccct cttttccatg ggggctgcag
     1381 ccccggggcc cagcgacctg acagttacag gactgaagtc tttctccagc ccctccctct
     1441 gcagcttgaa caccctgcta gcaggaacct cacgcctacc acatgcctcg agcacaggca
     1501 accttggcct cctctgcaga agtgggcatc tcggagccag cctggaagcc tccagcaggg
     1561 ctattccccc acacccctac ccactggaaa ggagtgttgt aagactaggt tttggctaag
     1621 gtgagataaa acatagtccc tggtgcctct taggggccag agcgggcagg aggttggata
     1681 acaaaaatag agcatcagca accctttcca ggtagaaatt ccagcgggag ttcaggttcc
     1741 caagcaattt cacgtacatg gctggtaagt gactgatctt tccccccgct tggtagcctc
     1801 acagatgagt cttggatgca ttcacagtca tttctggtct gtgcaccaaa ggatgcattc
     1861 agtgacctat gaaaaaccct actgaagggt ccagagaccc tggtgctcac cttagccttt
     1921 gtctttgagc aaataactta ccttcttcct tcttatgcct gggttttctc acacttaaat
     1981 ctgtactact gtttgccaat gtctgatgtg tgtatccctg gttcacaaga agattttaga
     2041 tggtattcaa attaatattt tctatttagt tatatattta atgtataata taaaaatatg
     2101 attagcatat tgacctgtag tttgatagat gttctgtcta ggataaagct aactgtaaaa
     2161 aaaaatagtg aatcagttta aagaaaaaca taacgtaaaa gtgggcacag atccagagag
     2221 gtagcaaaaa tcacaggggt ggttccatga atggctgaca cttaggaaac tctgaattag
     2281 gccatcctcg agactagccc accattcacc tctgttcatc ccccgtgggc tcataatcgt
     2341 tttcatttca cctttgattt ggaaggaaga agtttcttgc ccaaatgcct ggatgtgtct
     2401 gcttgacttt cagaacttct cacctcagcc ctaaagaggg agcctgtggg ttctcagaga
     2461 gatatcacaa tttgagtccc aaagaagagg ccagataccc acccaccttc ccccaaatct
     2521 taagcacctg cgccagtaca gtcaagaaga ggaaagtgtg tgaagaccca ggtctggctc
     2581 tgccacttgc ctggccatgt caccttgaag ctgtgacctg actccctata ttgtttcctc
     2641 agttgtagac caaaggcaat ggtgtctgcc ctcctacctt agaagacaaa tgcaagggca
     2701 tttcaccaca gagaggacct ttgtgctcac tttggcccag gaggcagtga tgctcatggt
     2761 tgcatgactt tatgagtcgc tgggccaggg tgaggacctg ggcctcctga ctcctggccc
     2821 agagttcttg tccatcagtt catactgcaa ttttatgtga aagcattatg actgtcctac
     2881 ccatgggaga gtaaatgtag attgaatgct aggagtctta aagctggaga gtatagattt
     2941 tgaggtcccc atttgggaaa catgtgccag aaatgtctag gtgtttaata aaacagatat
     3001 tggattatct catcactctt gcccttgagt attatgggaa gagccaggga gacgggcagg
     3061 gggagctgaa agctgaggct ccgtcctcat ctctaaactc tccactaacc aatttaaagg
     3121 atcttaaaag cttctccagg agagagactt aggaaaaaaa aagatttctg agtcagtgct
     3181 aatgagtcca gttactgaat ttgtgaatag ctattccctg gcttctggat gttagcccaa
     3241 gttgaatagc atagatgtgg ttgagagtgg ggtctgggag ggatagagag cccaccgccc
     3301 accccccaca atcccatgac tgagtggaga ccaaccagcc tggccaattc aaaggcaaga
     3361 agatttgagg ggggaaagtt gtccacgttt ccctctctgc ttcccacccc atctctctca
     3421 acttcttagt ggtcctgcca tactttccta gcacctctct ttcacccggg gagcccaagc
     3481 gtcctctagc tccatctcct cgcctgctcc ctgcctcctt ttcagggctg ccctgcacac
     3541 tggctcacca ctgttggacc ctgcacatgg ccaccttcca cagatggcac tccttgggag
     3601 cagggtcctt gtctttgtat tccagtgtcc ccagcactga gtgcaaggcc ccatgcaggg
     3661 taggaaacct gaggtttcaa gctcagggtt ttaagctgtg cagtgcacta agctctctgc
     3721 caaaaaacaa acaaaaaaag gtttctgtgg ttaaataagt ttgggaaatg ctgcaccaga
     3781 cgtccccttt ttatagattc acaatacaca tcagcatatt tgaggttcca agaagtcctc
     3841 cagtaaagaa cttggttaac ccaatgtttt ctctcactga attgagccca gagcccgttt
     3901 ccctacagat tgcttttgag ccttcctggg gcaccctctg cgtgaaatgt caccgtgtgc
     3961 cctccctgtg gagccccact ccccagcctc ctcccctctg tggtcatttt ggattttctg
     4021 actacttcct tctagccata gctggggccg agggctggtt cacagtctgg ccactgggcg
     4081 tcctgtggtg aaggccagat gcagccctcc ctgagtggct ctccctccca ctcagtcact
     4141 actgagctaa gtactgattc aatttggggt gccaaaggtt gggggtagga tatttttaag
     4201 ctctccaatt taaaaaggaa gggcctctcc tgtggaaagg gaaggatggc agagtcgtga
     4261 gaaaggtgtt gtcaagggac caaaaatcct tggctgttca gtcactgcgg tcttgatcca
     4321 gccccagggg gatgggcttc actggcagag ctgggtactg ctgtgctttt gccattaaaa
     4381 ttctgttatt aatgactcat catcagtgcc ccagaggaag tgtgagagga cgagagggag
     4441 gtggctccca tcagcagggc cagcctgggt caggatgctg ggttaaagcc cggcgccctc
     4501 accaatgaga cctttgtggg aagctctact gcctcagttt ccctatccgg agatgctgtt
     4561 ttcagggagt cctgacacta tgatgggaac aaggctattt ggtttactat atcattagtg
     4621 ctaatatagt gtggggcact cagatgttca gtaaatatac attcaacaaa taagtgagtg
     4681 attatactca actcccccca cccaatgccc agcaccaagc ctacccagca catagtaggt
     4741 actttaagta atttgaatga ataattttaa ataacttgaa tgaataattc tgtattgccc
     4801 cccactcgcc gcctatacac acgcacacac gcacacacac acacacggtt tcctgtgcta
     4861 cttctggcac ttagtaatta ttcaataaac acaaaatgtt tgttgca
//
