LOCUS       NM_001984               1121 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens esterase D (ESD), mRNA.
ACCESSION   NM_001984 XM_166266
VERSION     NM_001984.2
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 1121)
  AUTHORS   Yao,W., Chen,X., Cui,X., Zhou,B., Zhao,B., Lin,Z. and Miao,J.
  TITLE     Esterase D interacts with metallothionein 2A and inhibits the
            migration of A549 lung cancer cells in vitro
  JOURNAL   J Cell Biochem 124 (3), 373-381 (2023)
   PUBMED   36649442
  REMARK    GeneRIF: Esterase D interacts with metallothionein 2A and inhibits
            the migration of A549 lung cancer cells in vitro.
REFERENCE   2  (bases 1 to 1121)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1121)
  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 1121)
  AUTHORS   Young,L.J., Lee,E.Y., To,H.A., Bookstein,R., Shew,J.Y.,
            Donoso,L.A., Sery,T., Giblin,M., Shields,J.A. and Lee,W.H.
  TITLE     Human esterase D gene: complete cDNA sequence, genomic structure,
            and application in the genetic diagnosis of human retinoblastoma
  JOURNAL   Hum Genet 79 (2), 137-141 (1988)
   PUBMED   3164702
REFERENCE   5  (bases 1 to 1121)
  AUTHORS   Lee,W.H., Wheatley,W., Benedict,W.F., Huang,C.M. and Lee,E.Y.
  TITLE     Purification, biochemical characterization, and biological function
            of human esterase D
  JOURNAL   Proc Natl Acad Sci U S A 83 (18), 6790-6794 (1986)
   PUBMED   3462728
REFERENCE   6  (bases 1 to 1121)
  AUTHORS   Squire,J., Dryja,T.P., Dunn,J., Goddard,A., Hofmann,T.,
            Musarella,M., Willard,H.F., Becker,A.J., Gallie,B.L. and
            Phillips,R.A.
  TITLE     Cloning of the esterase D gene: a polymorphic gene probe closely
            linked to the retinoblastoma locus on chromosome 13
  JOURNAL   Proc Natl Acad Sci U S A 83 (17), 6573-6577 (1986)
   PUBMED   3462714
REFERENCE   7  (bases 1 to 1121)
  AUTHORS   Lee,E.Y. and Lee,W.H.
  TITLE     Molecular cloning of the human esterase D gene, a genetic marker of
            retinoblastoma
  JOURNAL   Proc Natl Acad Sci U S A 83 (17), 6337-6341 (1986)
   PUBMED   3462698
REFERENCE   8  (bases 1 to 1121)
  AUTHORS   Varki,A., Muchmore,E. and Diaz,S.
  TITLE     A sialic acid-specific O-acetylesterase in human erythrocytes:
            possible identity with esterase D, the genetic marker of
            retinoblastomas and Wilson disease
  JOURNAL   Proc Natl Acad Sci U S A 83 (4), 882-886 (1986)
   PUBMED   3456572
REFERENCE   9  (bases 1 to 1121)
  AUTHORS   Bonne-Tamir,B., Farrer,L.A., Frydman,M. and Kanaaneh,H.
  TITLE     Evidence for linkage between Wilson disease and esterase D in three
            kindreds: detection of linkage for an autosomal recessive disorder
            by the family study method
  JOURNAL   Genet Epidemiol 3 (3), 201-209 (1986)
   PUBMED   3459695
REFERENCE   10 (bases 1 to 1121)
  AUTHORS   van Heyningen,V., Bobrow,M., Bodmer,W.F., Gardiner,S.E., Povey,S.
            and Hopkinson,D.A.
  TITLE     Chromosome assignment of some human enzyme loci: mitochondrial
            malate dehydrogenase to 7, mannosephosphate isomerase and pyruvate
            kinase to 15 and probably, esterase D to 13
  JOURNAL   Ann Hum Genet 38 (3), 295-303 (1975)
   PUBMED   1137344
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF112219.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001984.1.
            
            Summary: This gene encodes a serine hydrolase that belongs to the
            esterase D family. The encoded enzyme is active toward numerous
            substrates including O-acetylated sialic acids, and it may be
            involved in the recycling of sialic acids. This gene is used as a
            genetic marker for retinoblastoma and Wilson's disease. [provided
            by RefSeq, Feb 2009].
            
            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 :: AF112219.1, HM005379.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378720.8/ ENSP00000367992.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1121              AF112219.1         72-1192
FEATURES             Location/Qualifiers
     source          1..1121
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.2"
     gene            1..1121
                     /gene="ESD"
                     /gene_synonym="FGH"
                     /note="esterase D"
                     /db_xref="GeneID:2098"
                     /db_xref="HGNC:HGNC:3465"
                     /db_xref="MIM:133280"
     exon            1..57
                     /gene="ESD"
                     /gene_synonym="FGH"
                     /inference="alignment:Splign:2.1.0"
     exon            58..105
                     /gene="ESD"
                     /gene_synonym="FGH"
                     /inference="alignment:Splign:2.1.0"
     exon            106..180
                     /gene="ESD"
                     /gene_synonym="FGH"
                     /inference="alignment:Splign:2.1.0"
     CDS             113..961
                     /gene="ESD"
                     /gene_synonym="FGH"
                     /EC_number="3.1.2.12"
                     /EC_number="3.1.1.56"
                     /note="esterase D/formylglutathione hydrolase; esterase
                     10; methylumbelliferyl-acetate deacetylase; testicular
                     tissue protein Li 66"
                     /codon_start=1
                     /product="S-formylglutathione hydrolase"
                     /protein_id="NP_001975.1"
                     /db_xref="CCDS:CCDS9404.1"
                     /db_xref="GeneID:2098"
                     /db_xref="HGNC:HGNC:3465"
                     /db_xref="MIM:133280"
                     /translation="MALKQISSNKCFGGLQKVFEHDSVELNCKMKFAVYLPPKAETGK
                     CPALYWLSGLTCTEQNFISKSGYHQSASEHGLVVIAPDTSPRGCNIKGEDESWDFGTG
                     AGFYVDATEDPWKTNYRMYSYVTEELPQLINANFPVDPQRMSIFGHSMGGHGALICAL
                     KNPGKYKSVSAFAPICNPVLCPWGKKAFSGYLGTDQSKWKAYDATHLVKSYPGSQLDI
                     LIDQGKDDQFLLDGQLLPDNFIAACTEKKIPVVFRLQEGYDHSYYFIATFITDHIRHH
                     AKYLNA"
     exon            181..269
                     /gene="ESD"
                     /gene_synonym="FGH"
                     /inference="alignment:Splign:2.1.0"
     exon            270..368
                     /gene="ESD"
                     /gene_synonym="FGH"
                     /inference="alignment:Splign:2.1.0"
     exon            369..493
                     /gene="ESD"
                     /gene_synonym="FGH"
                     /inference="alignment:Splign:2.1.0"
     exon            494..613
                     /gene="ESD"
                     /gene_synonym="FGH"
                     /inference="alignment:Splign:2.1.0"
     exon            614..712
                     /gene="ESD"
                     /gene_synonym="FGH"
                     /inference="alignment:Splign:2.1.0"
     exon            713..880
                     /gene="ESD"
                     /gene_synonym="FGH"
                     /inference="alignment:Splign:2.1.0"
     exon            881..1121
                     /gene="ESD"
                     /gene_synonym="FGH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1103..1108
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ESD"
                     /gene_synonym="FGH"
                     /note="hexamer: AATAAA"
     polyA_site      1121
                     /gene="ESD"
                     /gene_synonym="FGH"
                     /note="major polyA site"
ORIGIN      
        1 atcttgagcc ccgcctttta cttcggcccg cttcttctgg tcactccgcc accgtagaat
       61 cgcctaccat ttggtgcaag caaaaagcaa tcagcaattg gacaggaaaa gaatggcatt
      121 gaagcagatt tccagcaaca agtgctttgg gggattgcag aaagtttttg aacatgacag
      181 tgttgaacta aactgcaaaa tgaaatttgc tgtctactta ccaccaaagg cagaaacagg
      241 aaagtgccct gcactgtatt ggctctcagg tttaacttgc acagagcaaa attttatatc
      301 aaaatctggt tatcatcagt ctgcttcaga acatggtctt gttgtcattg ctccagatac
      361 cagccctcgt ggctgcaata ttaaaggtga agatgagagc tgggactttg gcactggtgc
      421 tggattttat gttgatgcca ctgaagatcc ttggaaaacc aactacagaa tgtactctta
      481 tgtcacagag gagcttcccc aactcataaa tgccaatttt ccagtggatc cccaaaggat
      541 gtctattttt ggccactcca tgggaggtca tggagctctg atctgtgctt tgaaaaatcc
      601 tggaaaatac aaatctgtgt cagcatttgc tccaatttgc aaccctgtac tctgtccctg
      661 gggcaaaaaa gcctttagtg gatatttggg aacagatcaa agtaaatgga aggcttatga
      721 tgctacccac cttgtgaaat cctatccagg atctcagctg gacatactaa ttgatcaagg
      781 gaaagatgac cagtttcttt tagatggaca gttactccct gataacttca tagctgcctg
      841 tacagaaaag aaaatccccg ttgtttttcg attgcaagag ggttatgatc atagctacta
      901 cttcattgca acctttatta ctgaccacat cagacatcat gctaaatacc tgaatgcatg
      961 aaaaaactcc aaataagaga atctcttcag gattataaaa gttgtaaaat gcaactgtat
     1021 tgctgagcaa aaaaaaaaaa aattcaaaac attggatttt atagtgctaa aagggcttta
     1081 ttctatagtt gaatcacctc tgaataaaga tataaaacct a
//
