LOCUS       NM_001198961            1556 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens enoyl-CoA hydratase domain containing 2 (ECHDC2),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001198961
VERSION     NM_001198961.2
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 1556)
  AUTHORS   He,J., Yi,J., Ji,L., Dai,L., Chen,Y. and Xue,W.
  TITLE     ECHDC2 inhibits the proliferation of gastric cancer cells by
            binding with NEDD4 to degrade MCCC2 and reduce aerobic glycolysis
  JOURNAL   Mol Med 30 (1), 69 (2024)
   PUBMED   38783226
  REMARK    GeneRIF: ECHDC2 inhibits the proliferation of gastric cancer cells
            by binding with NEDD4 to degrade MCCC2 and reduce aerobic
            glycolysis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1556)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA868944.1, BC044574.1, BC038389.1, AC099677.2 and AA946561.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001198961.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC044574.1, SRR18074967.378222.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371522.9/ ENSP00000360577.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                DA868944.1         35-71
            38-421              BC044574.1         2-385
            422-431             BC038389.1         887-896
            432-780             BC044574.1         396-744
            781-1234            BC038389.1         1153-1606
            1235-1482           AC099677.2         56834-57081         c
            1483-1556           AA946561.1         2-75                c
FEATURES             Location/Qualifiers
     source          1..1556
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.3"
     gene            1..1556
                     /gene="ECHDC2"
                     /note="enoyl-CoA hydratase domain containing 2"
                     /db_xref="GeneID:55268"
                     /db_xref="HGNC:HGNC:23408"
                     /db_xref="MIM:620724"
     exon            1..188
                     /gene="ECHDC2"
                     /inference="alignment:Splign:2.1.0"
     CDS             68..946
                     /gene="ECHDC2"
                     /note="isoform 1 is encoded by transcript variant 1; enoyl
                     Coenzyme A hydratase domain containing 2; enoyl-CoA
                     hydratase domain-containing protein 2, mitochondrial"
                     /codon_start=1
                     /product="enoyl-CoA hydratase domain-containing protein 2,
                     mitochondrial isoform 1"
                     /protein_id="NP_001185890.1"
                     /db_xref="CCDS:CCDS55600.1"
                     /db_xref="GeneID:55268"
                     /db_xref="HGNC:HGNC:23408"
                     /db_xref="MIM:620724"
                     /translation="MLRVLCLLRPWRPLRARGCASDGAAGGSEIQVRALAGPDQGITE
                     ILMNRPSARNALGNVFVSELLETLAQLREDRQVRVLLFRSGVKGVFCAGADLKEREQM
                     SEAEVGVFVQRLRGLMNDIAAFPAPTIAAMDGFALGGGLELALACDLRVAASSAVMGL
                     IETTRGLLPGAGGTQRLPRCLGVALAKELIFTGRRLSGTEAHVLGLVNHAVAQNEEGD
                     AAYQRARALAQEILPQAPIAVRLGKVAIDRGTEVDIASGMAIEGMCYAQNIPTRDRLE
                     GMAAFREKRTPKFVGK"
     exon            189..256
                     /gene="ECHDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            257..344
                     /gene="ECHDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            345..431
                     /gene="ECHDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            432..524
                     /gene="ECHDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            525..581
                     /gene="ECHDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            582..769
                     /gene="ECHDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            770..820
                     /gene="ECHDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            821..868
                     /gene="ECHDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            869..1556
                     /gene="ECHDC2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1224..1229
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ECHDC2"
                     /note="hexamer: ATTAAA"
     polyA_site      1234
                     /gene="ECHDC2"
                     /note="major polyA site"
     regulatory      1360..1365
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ECHDC2"
                     /note="hexamer: AATAAA"
     polyA_site      1405
                     /gene="ECHDC2"
     regulatory      1514..1519
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ECHDC2"
                     /note="hexamer: AATAAA"
     regulatory      1534..1539
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ECHDC2"
                     /note="hexamer: AATAAA"
     polyA_site      1539
                     /gene="ECHDC2"
     polyA_site      1556
                     /gene="ECHDC2"
ORIGIN      
        1 gagctctcag cgggagccga gacggtgcag ggccggagaa gcaccttcac tcccagcctg
       61 cgccccgatg ctgcgcgttc tgtgcctcct gcgcccctgg aggccccttc gggcccgcgg
      121 ctgcgcttcc gacggggcgg ccgggggctc agagatccaa gtgcgcgccc tggcgggtcc
      181 ggaccaaggg atcactgaga ttctgatgaa cagaccttct gcccgcaatg ccttggggaa
      241 tgtcttcgtc agtgagctgc tggaaactct ggcccagctg cgggaggacc ggcaagtgcg
      301 tgtcctgctc ttcagaagtg gagtgaaggg cgtgttctgt gcaggtgcag acctgaagga
      361 gcgggaacag atgagtgaag cagaggtggg ggtgtttgtc cagcgactcc ggggcctgat
      421 gaatgacatc gcagccttcc ctgcacccac cattgcggct atggatgggt ttgccttggg
      481 cggaggccta gagcttgccc tggcctgtga cctccgagtg gcagcttcct cggcagtcat
      541 gggactgatt gagaccacgc gagggctcct cccgggggca ggagggactc agaggctgcc
      601 ccgttgtctg ggggtggccc tggcgaagga gctcatcttc acgggccgac gactgagtgg
      661 aactgaggcc cacgtactgg ggctggtgaa tcacgctgtg gcccagaacg aggaggggga
      721 cgccgcctac cagcgggcac gagcactggc ccaggagatc ctgccccagg cccccattgc
      781 cgtgcggctg ggcaaagtag ccattgaccg aggaacggag gtggacattg catctgggat
      841 ggccattgaa gggatgtgct atgcccagaa tattccaacc cgggaccggc tagagggcat
      901 ggcagccttc agggagaagc ggactcccaa atttgttggc aaatgacccc cattttaacc
      961 ttcagcatgg gagatgcatg ccctgaagag caggatccag aaggaagatt tgtggccaga
     1021 ttgccttcat catttcacct ctccagactt ccatttcttc acaaggatga tgatggaaat
     1081 aaaatgactg gcgtgatgcc tggaaccaag gtgctgatcc taccacctac tgctaccttc
     1141 cttagcttca ccctggctag aaataatcac gagggttggg tttgctttgg aaaatgcctg
     1201 tctctctact tgaatgataa agaattaaat tagatctctc tgagtcttgg tatcattggc
     1261 tctcagcccc tgacctctct cagttatcag gcactcatta gagatgtcag aagattttaa
     1321 gataccccta gtttcttcct gtgaacaaca gaggtaataa ataaactctg acatcggttg
     1381 aacatgtgtc aggggtcaga ctgcagatcc cagtctctgc cagttacttg ctgtataacc
     1441 gtggacaaat tgtttaaatg ctctgggcct cagcttcctc acctacaaaa caaaacttgt
     1501 gaagatttag caaaataaaa acacttcata ttcaataaat atgttttaat tgttaa
//
