LOCUS       NM_001002030            2339 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens ethylmalonyl-CoA decarboxylase 1 (ECHDC1), transcript
            variant 1, mRNA.
ACCESSION   NM_001002030
VERSION     NM_001002030.2
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 2339)
  AUTHORS   Fogh,S., Dipace,G., Bie,A., Veiga-da-Cunha,M., Hansen,J.,
            Kjeldsen,M., Mosegaard,S., Ribes,A., Gregersen,N., Aagaard,L., Van
            Schaftingen,E. and Olsen,R.K.J.
  TITLE     Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a
            novel player in ethylmalonic aciduria?
  JOURNAL   J Inherit Metab Dis 44 (5), 1215-1225 (2021)
   PUBMED   33973257
  REMARK    GeneRIF: Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1)
            gene: a novel player in ethylmalonic aciduria?
REFERENCE   2  (bases 1 to 2339)
  AUTHORS   Jaiswal,A., Gautam,P., Pietila,E.A., Timonen,S., Nordstrom,N.,
            Akimov,Y., Sipari,N., Tanoli,Z., Fleischer,T., Lehti,K.,
            Wennerberg,K. and Aittokallio,T.
  TITLE     Multi-modal meta-analysis of cancer cell line omics profiles
            identifies ECHDC1 as a novel breast tumor suppressor
  JOURNAL   Mol Syst Biol 17 (3), e9526 (2021)
   PUBMED   33750001
  REMARK    GeneRIF: Multi-modal meta-analysis of cancer cell line omics
            profiles identifies ECHDC1 as a novel breast tumor suppressor.
REFERENCE   3  (bases 1 to 2339)
  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 2339)
  AUTHORS   Linster,C.L., Noel,G., Stroobant,V., Vertommen,D., Vincent,M.F.,
            Bommer,G.T., Veiga-da-Cunha,M. and Van Schaftingen,E.
  TITLE     Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite
            proofreading
  JOURNAL   J Biol Chem 286 (50), 42992-43003 (2011)
   PUBMED   22016388
REFERENCE   5  (bases 1 to 2339)
  AUTHORS   Enciso-Mora,V., Hosking,F.J. and Houlston,R.S.
  TITLE     Risk of breast and prostate cancer is not associated with increased
            homozygosity in outbred populations
  JOURNAL   Eur J Hum Genet 18 (8), 909-914 (2010)
   PUBMED   20407466
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   6  (bases 1 to 2339)
  AUTHORS   Zheng,W., Cai,Q., Signorello,L.B., Long,J., Hargreaves,M.K.,
            Deming,S.L., Li,G., Li,C., Cui,Y. and Blot,W.J.
  TITLE     Evaluation of 11 breast cancer susceptibility loci in
            African-American women
  JOURNAL   Cancer Epidemiol Biomarkers Prev 18 (10), 2761-2764 (2009)
   PUBMED   19789366
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   7  (bases 1 to 2339)
  AUTHORS   Menachem,T.D., Laitman,Y., Kaufman,B. and Friedman,E.
  TITLE     The RNF146 and ECHDC1 genes as candidates for inherited breast and
            ovarian cancer in Jewish Ashkenazi women
  JOURNAL   Fam Cancer 8 (4), 399-402 (2009)
   PUBMED   19517271
  REMARK    GeneRIF: Mutations in the coding regions of the RNF146 and ECHDC1
            genes do not contribute to the burden of inherited predisposition
            of breast cancer in Ashkenazi high risk women.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2339)
  AUTHORS   Gold,B., Kirchhoff,T., Stefanov,S., Lautenberger,J., Viale,A.,
            Garber,J., Friedman,E., Narod,S., Olshen,A.B., Gregersen,P.,
            Kosarin,K., Olsh,A., Bergeron,J., Ellis,N.A., Klein,R.J.,
            Clark,A.G., Norton,L., Dean,M., Boyd,J. and Offit,K.
  TITLE     Genome-wide association study provides evidence for a breast cancer
            risk locus at 6q22.33
  JOURNAL   Proc Natl Acad Sci U S A 105 (11), 4340-4345 (2008)
   PUBMED   18326623
  REMARK    GeneRIF: Genome-wide association study of gene-disease association.
            (HuGE Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC297239.1 and AL834469.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001002030.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL834469.1, SRR3476690.70508.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2163623 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000454859.8/ ENSP00000401751.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-250               DC297239.1         1-250
            251-2339            AL834469.1         190-2278
FEATURES             Location/Qualifiers
     source          1..2339
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.33"
     gene            1..2339
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /note="ethylmalonyl-CoA decarboxylase 1"
                     /db_xref="GeneID:55862"
                     /db_xref="HGNC:HGNC:21489"
                     /db_xref="MIM:612136"
     exon            1..274
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /inference="alignment:Splign:2.1.0"
     exon            275..496
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /inference="alignment:Splign:2.1.0"
     CDS             277..1182
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /EC_number="4.1.1.94"
                     /note="isoform 1 is encoded by transcript variant 1; enoyl
                     Coenzyme A hydratase domain containing 1; enoyl-CoA
                     hydratase domain-containing protein 1; methylmalonyl-CoA
                     decarboxylase; epididymis secretory protein Li 76; enoyl
                     CoA hydratase domain containing 1"
                     /codon_start=1
                     /product="ethylmalonyl-CoA decarboxylase isoform 1"
                     /protein_id="NP_001002030.1"
                     /db_xref="CCDS:CCDS43504.1"
                     /db_xref="GeneID:55862"
                     /db_xref="HGNC:HGNC:21489"
                     /db_xref="MIM:612136"
                     /translation="MAKSLLKTASLSGRTKLLHQTGLSLYSTSHGFYEEEVKKTLQQF
                     PGGSIDLQKEDNGIGILTLNNPSRMNAFSGVMMLQLLEKVIELENWTEGKGLIVRGAK
                     NTFSSGSDLNAVKSLGTPEDGMAVCMFMQNTLTRFMRLPLISVALVQGWALGGGAEFT
                     TACDFRLMTPESKIRFVHKEMGIIPSWGGTTRLVEIIGSRQALKVLSGALKLDSKNAL
                     NIGMVEEVLQSSDETKSLEEAQEWLKQFIQGPPEVIRALKKSVCSGRELYLEEALQNE
                     RDLLGTVWGGPANLEAIAKKGKFNK"
     exon            497..639
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /inference="alignment:Splign:2.1.0"
     exon            640..692
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /inference="alignment:Splign:2.1.0"
     exon            693..773
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /inference="alignment:Splign:2.1.0"
     exon            774..2339
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1250..1255
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /note="hexamer: ATTAAA"
     polyA_site      1272
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /note="major polyA site"
     regulatory      2313..2318
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /note="hexamer: AATAAA"
     polyA_site      2339
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /note="major polyA site"
ORIGIN      
        1 gtgacacgag ggagcgcgaa gcggagggcg cctcgcggca ggagcgggat ttccggggtc
       61 acgggaaccg gcaggggaac gggataaagt tcccggagaa aggaaaggag agcgtgggat
      121 agtaaaagag aagacgcgga gaagaggaga ggacctacaa gaacggagga caggggcgca
      181 cgatggtccc ggggggagcg gaaacaaagg cacgcaaaac ggaaaagcgt gtgtagggga
      241 gcggaaaagg aagtcaccac cgtggcctgc gacgaaatgg cgaaaagtct tttgaagaca
      301 gcctctctgt ctggaaggac aaaattgcta catcaaacag gattgtcact ttatagtaca
      361 tcccatggat tttatgagga agaagtgaaa aaaacacttc agcagtttcc tggtggatcc
      421 attgaccttc agaaggaaga caatggcatt ggcattctta ctctgaacaa tccaagtaga
      481 atgaatgcct tttcaggtgt tatgatgcta caacttctgg aaaaagtaat tgaattggaa
      541 aattggacag aggggaaagg cctcattgtc cgtggggcaa aaaatacttt ctcttcagga
      601 tctgatctga atgctgtgaa atcactagga actccagagg atggaatggc cgtatgcatg
      661 ttcatgcaaa acaccttaac aagatttatg agacttcctt taataagtgt tgcgctggtt
      721 caaggttggg cattgggtgg aggagcagaa tttactacag catgtgattt caggttaatg
      781 actccagaga gtaagatcag attcgtccac aaagagatgg gcataatacc aagctggggt
      841 ggcaccaccc ggctagttga aataatcgga agtagacaag ctctcaaagt gttgagtggg
      901 gcccttaaac tggattcaaa aaatgctcta aacataggaa tggttgaaga ggtcttgcag
      961 tcttcagatg aaactaaatc tctagaagag gcacaagaat ggctaaagca attcatccaa
     1021 gggccaccgg aagtaattag agctttgaaa aaatctgttt gttcaggcag agagctatat
     1081 ttggaggaag cattacagaa cgaaagagat cttttaggaa cagtttgggg tgggcctgca
     1141 aatttagagg ctattgctaa gaaaggaaaa tttaataaat aattggtttt tcgtgtggat
     1201 gtactccaag taaagctcca gtgactaata tgtataaatg ttaaatgata ttaaatatga
     1261 acatcagaat tactttgaag gctactatta atatgcagac ttacttttaa tcatttgaat
     1321 atctgaactc atttacctca tttcttgcca attactcact tgggtattta ctgcgtaatc
     1381 tggaacattt agctaaaata tacacttttg gcttaaaaat tattgctgtc aattccaata
     1441 ataattctta gcttataacc aaagagcagt gtttaaaagg agagcttcta tacaaaacct
     1501 attcctggcg ttacttttca tacaattttt gttctgtttt acctggaaat aatttaccaa
     1561 aataactgag tgttgctgct aaagaacaaa agtggggagg tatcagggaa caagaaaaca
     1621 agaaagggta tgatcaatca ttttcttctg ctccaaacag ctggagtaaa attcatggga
     1681 aatggccctt catttaaaaa aagatgtacc tcactaccca ctacaaattt ggaactttgt
     1741 tcttttcaat aattagtttt ctattgtaaa ttacctacta aacagtggta gccatgacat
     1801 ggaaagtcaa ctgattctac aattggacat tcatttgtgt gccctggaat ttccaactag
     1861 taataaacaa ctactgttga tgtagtttta aaccacttga agggactcat gaagcatcct
     1921 gcaacataaa tttgcatttt tacatcagat ttcttttttt tcctgaaaaa caactaacct
     1981 tctaacaact atctttcaaa agtaaatgta ataaaaatgc acaacataaa atgtttatga
     2041 tcccagcaat acacttttta aaaaatgtga aagtcaaaga attaagttct agttctgact
     2101 catcacaaga ggtcaaaagt atttgctact gtaacattca attcacattt gagaatcatg
     2161 gtaaaaataa cttgcatttg ccttaccatc atgatcctac tgttgagtta ggaaaatatg
     2221 gttagacaga ctcacattac tttttttcag aggtaaactc tagattactg tgtcaaccca
     2281 atactatttg gccatagatg taaaaactac caaataaaag tggattttgt ggtctacaa
//
