LOCUS       NM_024693               1633 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens enoyl-CoA hydratase domain containing 3 (ECHDC3),
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_024693
VERSION     NM_024693.5
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 1633)
  AUTHORS   Zhao,Q., Du,X., Liu,F., Zhang,Y., Qin,W. and Zhang,Q.
  TITLE     ECHDC3 Variant Regulates the Right Hippocampal Microstructural
            Integrity and Verbal Memory in Type 2 Diabetes Mellitus
  JOURNAL   Neuroscience 538, 30-39 (2024)
   PUBMED   38070593
  REMARK    GeneRIF: ECHDC3 Variant Regulates the Right Hippocampal
            Microstructural Integrity and Verbal Memory in Type 2 Diabetes
            Mellitus.
REFERENCE   2  (bases 1 to 1633)
  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
REFERENCE   3  (bases 1 to 1633)
  AUTHORS   Sharma,N.K., Chuang Key,C.C., Civelek,M., Wabitsch,M., Comeau,M.E.,
            Langefeld,C.D., Parks,J.S. and Das,S.K.
  TITLE     Genetic Regulation of Enoyl-CoA Hydratase Domain-Containing 3 in
            Adipose Tissue Determines Insulin Sensitivity in African Americans
            and Europeans
  JOURNAL   Diabetes 68 (7), 1508-1522 (2019)
   PUBMED   31010960
  REMARK    GeneRIF: Genetically (cis-) regulated expression of adipose tissue
            enoyl-CoA hydratase domain-containing 3 (ECHDC3) and genetic
            silencing studies in a human adipocyte model suggest that ECHDC3
            may play an important role in determining insulin sensitivity.
REFERENCE   4  (bases 1 to 1633)
  AUTHORS   Jun,G.R., Chung,J., Mez,J., Barber,R., Beecham,G.W., Bennett,D.A.,
            Buxbaum,J.D., Byrd,G.S., Carrasquillo,M.M., Crane,P.K.,
            Cruchaga,C., De Jager,P., Ertekin-Taner,N., Evans,D., Fallin,M.D.,
            Foroud,T.M., Friedland,R.P., Goate,A.M., Graff-Radford,N.R.,
            Hendrie,H., Hall,K.S., Hamilton-Nelson,K.L., Inzelberg,R.,
            Kamboh,M.I., Kauwe,J.S.K., Kukull,W.A., Kunkle,B.W., Kuwano,R.,
            Larson,E.B., Logue,M.W., Manly,J.J., Martin,E.R., Montine,T.J.,
            Mukherjee,S., Naj,A., Reiman,E.M., Reitz,C., Sherva,R., St
            George-Hyslop,P.H., Thornton,T., Younkin,S.G., Vardarajan,B.N.,
            Wang,L.S., Wendlund,J.R., Winslow,A.R., Haines,J., Mayeux,R.,
            Pericak-Vance,M.A., Schellenberg,G., Lunetta,K.L. and Farrer,L.A.
  CONSRTM   Alzheimer's Disease Genetics Consortium
  TITLE     Transethnic genome-wide scan identifies novel Alzheimer's disease
            loci
  JOURNAL   Alzheimers Dement 13 (7), 727-738 (2017)
   PUBMED   28183528
  REMARK    GeneRIF: Genome-wide significant (GWS) associations in
            single-nucleotide polymorphism (SNP)-based tests (P < 5 x 10(-8))
            were identified for SNPs in PFDN1/HBEGF, USP6NL/ECHDC3, and
            BZRAP1-AS1.
REFERENCE   5  (bases 1 to 1633)
  AUTHORS   Duarte,M.K., de Araujo,J.N., Duarte,V.H., de Oliveira,K.M., de
            Oliveira,J.M., Carioca,A.A., Bortolin,R.H., Rezende,A.A.,
            Hirata,M.H., Hirata,R.D., Waitzberg,D.L., Lima,S.C., Luchessi,A.D.
            and Silbiger,V.N.
  TITLE     The relationship of the oleic acid level and ECHDC3 mRNA expression
            with the extent of coronary lesion
  JOURNAL   Lipids Health Dis 15 (1), 144 (2016)
   PUBMED   27586541
  REMARK    GeneRIF: Increased levels of monounsaturated fatty acids,
            especially oleic acid, and ECHDC3 upregulation in patients with
            coronary artery lesion suggests that these are independent factors
            associated with the initial progression of cardiovascular disease.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1633)
  AUTHORS   Lambert,J.C., Ibrahim-Verbaas,C.A., Harold,D., Naj,A.C., Sims,R.,
            Bellenguez,C., DeStafano,A.L., Bis,J.C., Beecham,G.W.,
            Grenier-Boley,B., Russo,G., Thorton-Wells,T.A., Jones,N.,
            Smith,A.V., Chouraki,V., Thomas,C., Ikram,M.A., Zelenika,D.,
            Vardarajan,B.N., Kamatani,Y., Lin,C.F., Gerrish,A., Schmidt,H.,
            Kunkle,B., Dunstan,M.L., Ruiz,A., Bihoreau,M.T., Choi,S.H.,
            Reitz,C., Pasquier,F., Cruchaga,C., Craig,D., Amin,N., Berr,C.,
            Lopez,O.L., De Jager,P.L., Deramecourt,V., Johnston,J.A., Evans,D.,
            Lovestone,S., Letenneur,L., Moron,F.J., Rubinsztein,D.C.,
            Eiriksdottir,G., Sleegers,K., Goate,A.M., Fievet,N.,
            Huentelman,M.W., Gill,M., Brown,K., Kamboh,M.I., Keller,L.,
            Barberger-Gateau,P., McGuiness,B., Larson,E.B., Green,R.,
            Myers,A.J., Dufouil,C., Todd,S., Wallon,D., Love,S., Rogaeva,E.,
            Gallacher,J., St George-Hyslop,P., Clarimon,J., Lleo,A., Bayer,A.,
            Tsuang,D.W., Yu,L., Tsolaki,M., Bossu,P., Spalletta,G., Proitsi,P.,
            Collinge,J., Sorbi,S., Sanchez-Garcia,F., Fox,N.C., Hardy,J., Deniz
            Naranjo,M.C., Bosco,P., Clarke,R., Brayne,C., Galimberti,D.,
            Mancuso,M., Matthews,F., Moebus,S., Mecocci,P., Del Zompo,M.,
            Maier,W., Hampel,H., Pilotto,A., Bullido,M., Panza,F., Caffarra,P.,
            Nacmias,B., Gilbert,J.R., Mayhaus,M., Lannefelt,L., Hakonarson,H.,
            Pichler,S., Carrasquillo,M.M., Ingelsson,M., Beekly,D., Alvarez,V.,
            Zou,F., Valladares,O., Younkin,S.G., Coto,E., Hamilton-Nelson,K.L.,
            Gu,W., Razquin,C., Pastor,P., Mateo,I., Owen,M.J., Faber,K.M.,
            Jonsson,P.V., Combarros,O., O'Donovan,M.C., Cantwell,L.B.,
            Soininen,H., Blacker,D., Mead,S., Mosley,T.H. Jr., Bennett,D.A.,
            Harris,T.B., Fratiglioni,L., Holmes,C., de Bruijn,R.F.,
            Passmore,P., Montine,T.J., Bettens,K., Rotter,J.I., Brice,A.,
            Morgan,K., Foroud,T.M., Kukull,W.A., Hannequin,D., Powell,J.F.,
            Nalls,M.A., Ritchie,K., Lunetta,K.L., Kauwe,J.S., Boerwinkle,E.,
            Riemenschneider,M., Boada,M., Hiltuenen,M., Martin,E.R.,
            Schmidt,R., Rujescu,D., Wang,L.S., Dartigues,J.F., Mayeux,R.,
            Tzourio,C., Hofman,A., Nothen,M.M., Graff,C., Psaty,B.M., Jones,L.,
            Haines,J.L., Holmans,P.A., Lathrop,M., Pericak-Vance,M.A.,
            Launer,L.J., Farrer,L.A., van Duijn,C.M., Van Broeckhoven,C.,
            Moskvina,V., Seshadri,S., Williams,J., Schellenberg,G.D. and
            Amouyel,P.
  CONSRTM   European Alzheimer's Disease Initiative (EADI); Genetic and
            Environmental Risk in Alzheimer's Disease; Alzheimer's Disease
            Genetic Consortium; Cohorts for Heart and Aging Research in Genomic
            Epidemiology
  TITLE     Meta-analysis of 74,046 individuals identifies 11 new
            susceptibility loci for Alzheimer's disease
  JOURNAL   Nat Genet 45 (12), 1452-1458 (2013)
   PUBMED   24162737
REFERENCE   7  (bases 1 to 1633)
  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
            AL138898.19.
            
            On Nov 23, 2018 this sequence version replaced NM_024693.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK222511.1, HM005699.1 [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. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000379215.9/
                                                  ENSP00000368517.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-365               AL138898.19        19169-19533
            366-487             AL138898.19        24136-24257
            488-585             AL138898.19        26282-26379
            586-786             AL138898.19        32195-32395
            787-1633            AL138898.19        40011-40857
FEATURES             Location/Qualifiers
     source          1..1633
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p14"
     gene            1..1633
                     /gene="ECHDC3"
                     /note="enoyl-CoA hydratase domain containing 3"
                     /db_xref="GeneID:79746"
                     /db_xref="HGNC:HGNC:23489"
                     /db_xref="MIM:620756"
     exon            1..365
                     /gene="ECHDC3"
                     /inference="alignment:Splign:2.1.0"
     CDS             196..1107
                     /gene="ECHDC3"
                     /note="enoyl Coenzyme A hydratase domain containing 3;
                     enoyl-CoA hydratase domain-containing protein 3,
                     mitochondrial; testis tissue sperm-binding protein Li 76m"
                     /codon_start=1
                     /product="enoyl-CoA hydratase domain-containing protein 3,
                     mitochondrial precursor"
                     /protein_id="NP_078969.3"
                     /db_xref="CCDS:CCDS7084.1"
                     /db_xref="GeneID:79746"
                     /db_xref="HGNC:HGNC:23489"
                     /db_xref="MIM:620756"
                     /translation="MAAVAVLRAFGASGPMCLRRGPWAQLPARFCSRDPAGAGRRESE
                     PRPTSARQLDGIRNIVLSNPKKRNALSLAMLKSLQSDILHDADSNDLKVIIISAEGPV
                     FSSGHDLKELTEEQGRDYHAEVFQTCSKVMMHIRNHPVPVIAMVNGLAAAAGCQLVAS
                     CDIAVASDKSSFATPGVNVGLFCSTPGVALARAVPRKVALEMLFTGEPISAQEALLHG
                     LLSKVVPEAELQEETMRIARKIASLSRPVVSLGKATFYKQLPQDLGTAYYLTSQAMVD
                     NLALRDGQEGITAFLQKRKPVWSHEPV"
     exon            366..487
                     /gene="ECHDC3"
                     /inference="alignment:Splign:2.1.0"
     exon            488..585
                     /gene="ECHDC3"
                     /inference="alignment:Splign:2.1.0"
     exon            586..786
                     /gene="ECHDC3"
                     /inference="alignment:Splign:2.1.0"
     exon            787..1633
                     /gene="ECHDC3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1611..1616
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ECHDC3"
                     /note="hexamer: AATAAA"
     polyA_site      1633
                     /gene="ECHDC3"
                     /note="major polyA site"
ORIGIN      
        1 gtagtacgga ctgggcctgg cctggggcgt ccccgcgaag cctgggcctg tcaggcggtt
       61 ccgtccgggt ctcggccacc gtcgagttcc gtcgagttcc gtcccggccc tgctcacagc
      121 agcgccctcg gagcgcccag cacctgcggc cggccaggca gcgcgatcct gcggcgtctg
      181 gccatcccga atgctatggc cgccgtcgcc gtcttgcggg ccttcggggc aagtgggccc
      241 atgtgtctcc ggcgcggccc ctgggcccag ctccccgccc gcttctgcag ccgggacccg
      301 gccggggcgg ggcggcggga gtcggagccg cggcccacca gcgcgcggca gctggacggc
      361 ataaggaaca tcgtcttgag caatcccaag aagaggaacg cgttgtcact tgcaatgctg
      421 aagtctctcc aaagtgacat tcttcatgac gctgacagca acgatctgaa agtcattatc
      481 atctcggctg aggggcctgt gttttcttct gggcatgact taaaggagct gacagaggag
      541 caaggccgtg attaccatgc cgaagtattt cagacctgtt ccaaggtcat gatgcacatc
      601 cggaaccacc ccgttcccgt cattgccatg gtcaatggcc tggccgcggc tgccggctgt
      661 caactggttg ccagctgcga cattgccgtg gcgagcgaca agtcctcttt tgccactcct
      721 ggggtgaacg tcgggctctt ctgttctacc cctggggttg ccttggcaag agcagtgcct
      781 agaaaggtgg ccttggagat gctctttact ggtgagccca tttctgccca ggaggccctg
      841 ctccacgggc tgcttagcaa ggtggtgcca gaggcggagc tgcaggagga gaccatgcgg
      901 atcgctagga agatcgcatc gctgagccgt ccggtggtgt ccctgggcaa agccaccttc
      961 tacaagcagc tgccccagga cctggggacg gcttactacc tcacctccca ggccatggtg
     1021 gacaacctgg ccctgcggga cgggcaggag ggcatcacgg ccttcctcca gaagagaaaa
     1081 cctgtctggt cacacgagcc agtgtgagtg gaggcagagg agtgaggccc acgggcagcg
     1141 cccaggagcc caccttcccc tctggcccag ccaccactgc ctctcagctt caacaggtga
     1201 caggctgctt tcgtgacttg atattggtgt catagcattt ggcctacatt aaaagccaca
     1261 atttcatggg gaaaggacaa aatggagagt gactgaggtg ctgacctcag tgcaaggctg
     1321 gtgaaccctg cagcgggcca gctatggtgg gaagcctggc atttggggtg ctccttgcaa
     1381 cgtcttaagc aagcgacccc ccgacatagc aaaaggtggc aacccatgga ggcagaaaga
     1441 aggacgccag cctgaccctt atctgaaacg tcctaagcag agttaatcct ggctgctcag
     1501 gagaggcgac acatttcaaa tctccacgag atattctcca cacagaaaat cttcttgatt
     1561 ctatagagac ttaatcatgc ctatggcttt gaataatctt atgtgattta aataaattaa
     1621 atctttatag aga
//
