LOCUS       NM_001171038            1330 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript
            variant 1, mRNA.
ACCESSION   NM_001171038
VERSION     NM_001171038.2
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 1330)
  AUTHORS   Tran,Q.H., Than,V.T., Luu,P.L., Clarke,D., Lam,H.N., Nguyen,T.T.,
            Nguyen,D.T., Duy,P.Q., Phung,D. and Nguyen,M.N.
  TITLE     A novel signature predicts recurrence risk and therapeutic response
            in breast cancer patients
  JOURNAL   Int J Cancer 148 (11), 2848-2856 (2021)
   PUBMED   33586202
  REMARK    GeneRIF: A novel signature predicts recurrence risk and therapeutic
            response in breast cancer patients.
REFERENCE   2  (bases 1 to 1330)
  AUTHORS   Moskaleva,P.V., Shnayder,N.A. and Nasyrova,R.F.
  TITLE     [Association of polymorphic variants of DDC (AADC), AANAT and ASMT
            genes encoding enzymes for melatonin synthesis with the higher risk
            of neuropsychiatric disorders]
  JOURNAL   Zh Nevrol Psikhiatr Im S S Korsakova 121 (5), 151-157 (2021)
   PUBMED   34184492
  REMARK    GeneRIF: [Association of polymorphic variants of DDC (AADC), AANAT
            and ASMT genes encoding enzymes for melatonin synthesis with the
            higher risk of neuropsychiatric disorders].', trans 'Assotsiatsiya
            polimorfizmov genov DDC (AADC), AANAT i ASMT, kodiruyushchikh
            fermenty sinteza melatonina, s riskom razvitiya
            psikhonevrologicheskikh rasstroistv.
            Review article
REFERENCE   3  (bases 1 to 1330)
  AUTHORS   Chen,H.L., Yuan,C.Y., Cheng,H.H., Chang,T.C., Huang,S.K., Kuo,C.C.
            and Wu,K.K.
  TITLE     Restoration of hydroxyindole O-methyltransferase levels in human
            cancer cells induces a tryptophan-metabolic switch and attenuates
            cancer progression
  JOURNAL   J Biol Chem 293 (28), 11131-11142 (2018)
   PUBMED   29794137
  REMARK    GeneRIF: Low HIOMT expression is associated with lung cancer.
REFERENCE   4  (bases 1 to 1330)
  AUTHORS   Kinker,G.S., Oba-Shinjo,S.M., Carvalho-Sousa,C.E., Muxel,S.M.,
            Marie,S.K., Markus,R.P. and Fernandes,P.A.
  TITLE     Melatonergic system-based two-gene index is prognostic in human
            gliomas
  JOURNAL   J Pineal Res 60 (1), 84-94 (2016)
   PUBMED   26510398
  REMARK    GeneRIF: Even when considering only high-grade glioma patients, a
            low ASMT:CYP1B1 value, which suggests decreased melatonin and
            enhanced aggressiveness, was strongly associated with poor
            survival. Overall, our data reveal the prognostic value of the
            melatonergic system of gliomas and provide insights into the
            therapeutic role of melatonin.
REFERENCE   5  (bases 1 to 1330)
  AUTHORS   Rengaraj,D., Kwon,W.S. and Pang,M.G.
  TITLE     Bioinformatics Annotation of Human Y Chromosome-Encoded Protein
            Pathways and Interactions
  JOURNAL   J Proteome Res 14 (9), 3503-3518 (2015)
   PUBMED   26279084
  REMARK    GeneRIF: The pseudoautosomal region of human X and Y chromosome
            encoded ASMT protein was predicted to interact with many small
            molecules than that of interacting proteins.
REFERENCE   6  (bases 1 to 1330)
  AUTHORS   Stefulj,J., Hortner,M., Ghosh,M., Schauenstein,K., Rinner,I.,
            Wolfler,A., Semmler,J. and Liebmann,P.M.
  TITLE     Gene expression of the key enzymes of melatonin synthesis in
            extrapineal tissues of the rat
  JOURNAL   J Pineal Res 30 (4), 243-247 (2001)
   PUBMED   11339514
REFERENCE   7  (bases 1 to 1330)
  AUTHORS   Rodriguez,I.R., Mazuruk,K., Schoen,T.J. and Chader,G.J.
  TITLE     Structural analysis of the human hydroxyindole-O-methyltransferase
            gene. Presence of two distinct promoters
  JOURNAL   J Biol Chem 269 (50), 31969-31977 (1994)
   PUBMED   7989373
REFERENCE   8  (bases 1 to 1330)
  AUTHORS   Donohue,S.J., Roseboom,P.H., Illnerova,H., Weller,J.L. and
            Klein,D.C.
  TITLE     Human hydroxyindole-O-methyltransferase: presence of LINE-1
            fragment in a cDNA clone and pineal mRNA
  JOURNAL   DNA Cell Biol 12 (8), 715-727 (1993)
   PUBMED   8397829
REFERENCE   9  (bases 1 to 1330)
  AUTHORS   Yi,H., Donohue,S.J., Klein,D.C. and McBride,O.W.
  TITLE     Localization of the hydroxyindole-O-methyltransferase gene to the
            pseudoautosomal region: implications for mapping of psychiatric
            disorders
  JOURNAL   Hum Mol Genet 2 (2), 127-131 (1993)
   PUBMED   8098975
REFERENCE   10 (bases 1 to 1330)
  AUTHORS   Sato,T., Deguchi,T., Ichikawa,T., Fujieda,H. and Wake,K.
  TITLE     Localization of hydroxyindole O-methyltransferase-synthesizing
            cells in bovine epithalamus: immunocytochemistry and in-situ
            hybridization
  JOURNAL   Cell Tissue Res 263 (3), 413-418 (1991)
   PUBMED   1878930
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK314922.1, U11091.1,
            AL683807.22, U11090.1 and BC001620.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001171038.1.
            
            Summary: This gene belongs to the methyltransferase superfamily,
            and is located in the pseudoautosomal region (PAR) at the end of
            the short arms of the X and Y chromosomes. The encoded enzyme
            catalyzes the final reaction in the synthesis of melatonin, and is
            abundant in the pineal gland. Alternatively spliced transcript
            variants have been noted for this gene. [provided by RefSeq, Jan
            2010].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript. Variants 1 and 2 encode the same isoform (1).
            
            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 :: SRR18074967.2695074.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381241.9/ ENSP00000370639.3
            RefSeq Select criteria :: based on longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-42                AK314922.1         13-54
            43-708              U11091.1           5-670
            709-709             AL683807.22        50169-50169
            710-1329            U11090.1           714-1333
            1330-1330           BC001620.1         989-989
FEATURES             Location/Qualifiers
     source          1..1330
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /chromosome="Y"
                     /map="X"
                     /map="Y"
     gene            1..1330
                     /gene="ASMT"
                     /gene_synonym="ASMTY; HIOMT; HIOMTY"
                     /note="acetylserotonin O-methyltransferase"
                     /db_xref="GeneID:438"
                     /db_xref="HGNC:HGNC:750"
                     /db_xref="MIM:300015"
                     /db_xref="MIM:402500"
     exon            1..210
                     /gene="ASMT"
                     /gene_synonym="ASMTY; HIOMT; HIOMTY"
                     /inference="alignment:Splign:2.1.0"
     CDS             142..1263
                     /gene="ASMT"
                     /gene_synonym="ASMTY; HIOMT; HIOMTY"
                     /EC_number="2.1.1.4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     acetylserotonin N-methyltransferase; acetylserotonin
                     methyltransferase (Y chromosome); hydroxyindole
                     O-methyltransferase"
                     /codon_start=1
                     /product="acetylserotonin O-methyltransferase isoform 1"
                     /protein_id="NP_001164509.1"
                     /db_xref="CCDS:CCDS14117.1"
                     /db_xref="GeneID:438"
                     /db_xref="HGNC:HGNC:750"
                     /db_xref="MIM:300015"
                     /db_xref="MIM:402500"
                     /translation="MGSSEDQAYRLLNDYANGFMVSQVLFAACELGVFDLLAEAPGPL
                     DVAAVAAGVRASAHGTELLLDICVSLKLLKVETRGGKAFYRNTELSSDYLTTVSPTSQ
                     CSMLKYMGRTSYRCWGHLADAVREGRNQYLETFGVPAEELFTAIYRSEGERLQFMQAL
                     QEVWSVNGRSVLTAFDLSVFPLMCDLGGTWIKLETIILSKLSQGQKTKHRVFSLIGGA
                     GALAKECMSLYPGCKITVFDIPEVVWTAKQHFSFQEEEQIDFQEGDFFKDPLPEADLY
                     ILARVLHDWADGKCSHLLERIYHTCKPGGGILVIESLLDEDRRGPLLTQLYSLNMLVQ
                     TEGQERTPTHYHMLLSSAGFRDFQFKKTGAIYDAILARK"
     exon            211..385
                     /gene="ASMT"
                     /gene_synonym="ASMTY; HIOMT; HIOMTY"
                     /inference="alignment:Splign:2.1.0"
     exon            386..515
                     /gene="ASMT"
                     /gene_synonym="ASMTY; HIOMT; HIOMTY"
                     /inference="alignment:Splign:2.1.0"
     exon            516..584
                     /gene="ASMT"
                     /gene_synonym="ASMTY; HIOMT; HIOMTY"
                     /inference="alignment:Splign:2.1.0"
     exon            585..703
                     /gene="ASMT"
                     /gene_synonym="ASMTY; HIOMT; HIOMTY"
                     /inference="alignment:Splign:2.1.0"
     exon            704..787
                     /gene="ASMT"
                     /gene_synonym="ASMTY; HIOMT; HIOMTY"
                     /inference="alignment:Splign:2.1.0"
     exon            788..928
                     /gene="ASMT"
                     /gene_synonym="ASMTY; HIOMT; HIOMTY"
                     /inference="alignment:Splign:2.1.0"
     exon            929..1051
                     /gene="ASMT"
                     /gene_synonym="ASMTY; HIOMT; HIOMTY"
                     /inference="alignment:Splign:2.1.0"
     exon            1052..1330
                     /gene="ASMT"
                     /gene_synonym="ASMTY; HIOMT; HIOMTY"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1311..1316
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASMT"
                     /gene_synonym="ASMTY; HIOMT; HIOMTY"
                     /note="hexamer: AATAAA"
     polyA_site      1330
                     /gene="ASMT"
                     /gene_synonym="ASMTY; HIOMT; HIOMTY"
                     /note="major polyA site"
ORIGIN      
        1 gtttgagtac tgggcaggca gcagggagag tcaggcagca gctgtgagcg ggtggctctt
       61 ccccaccttg ccagcaggct ctgtgctcct tgaagcaagc gctccagagg ctccggaagc
      121 cacggctgga ttggagacaa gatgggatcc tcagaggacc aggcctatcg cctccttaat
      181 gactacgcca acggcttcat ggtgtcccag gttctcttcg ccgcctgcga gctgggcgtg
      241 tttgaccttc tcgccgaggc cccagggccc ctggacgtgg cggcagtggc tgcaggtgtg
      301 agggccagcg cccatgggac agagctcctg ctggacatct gtgtgtccct gaagctgctg
      361 aaagtggaga cgaggggagg aaaagctttc tatcgaaaca cagagctgtc cagcgactac
      421 ctgaccacgg tcagcccgac gtcacaatgc agcatgctga agtacatggg caggaccagc
      481 taccggtgct ggggccacct ggcagacgcc gtgagagaag gaaggaacca gtacctggag
      541 acgtttggcg ttcccgctga agagcttttt acggccatct acaggtccga gggcgagcgg
      601 ctacagttca tgcaagctct gcaggaggtc tggagcgtca acgggagaag cgtgctgacc
      661 gcctttgacc tgtcagtgtt cccacttatg tgtgaccttg gtgggacatg gataaagctg
      721 gaaaccatca ttctcagcaa actatcgcaa ggacagaaaa ccaaacaccg cgtgttctca
      781 ctcataggtg gggctggagc tctggctaag gaatgcatgt ctctgtaccc tggatgtaag
      841 atcaccgttt ttgacatccc agaagtggtg tggacggcaa agcagcactt ctcattccag
      901 gaggaagaac agattgactt ccaggaaggg gatttcttca aagaccctct tccggaagct
      961 gatctgtaca tcctggccag ggtcctccat gactgggcag acggaaagtg ctcacacctg
     1021 ctggagagga tctaccacac ttgcaagcca ggtggtggca ttctggtaat tgaaagcctc
     1081 ctggatgaag acaggcgagg tcctctgctc acgcagctct actctctgaa catgcttgtg
     1141 cagacggaag ggcaggagag gacccccacc cactaccaca tgctcctctc ttctgctggc
     1201 ttcagagact tccagtttaa gaaaacagga gccatttatg atgccatttt agccaggaaa
     1261 taactgtttc ttgtgacctg gaactaacgt caaagcacac aagacataat aataaagaca
     1321 tgtacctcca
//
