LOCUS       NM_000754               2272 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens catechol-O-methyltransferase (COMT), transcript
            variant 1, mRNA.
ACCESSION   NM_000754
VERSION     NM_000754.4
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 2272)
  AUTHORS   Clelland,J.D., Hesson,H., Ramiah,K., Anderson,J., Thengampallil,A.,
            Girgis,R.R. and Clelland,C.L.
  TITLE     The relationship between COMT, proline, and negative symptoms in
            clinical high risk and recent psychosis onset
  JOURNAL   Transl Psychiatry 14 (1), 409 (2024)
   PUBMED   39358340
  REMARK    GeneRIF: The relationship between COMT, proline, and negative
            symptoms in clinical high risk and recent psychosis onset.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2272)
  AUTHORS   Happer,J.P., Beaton,L.E., Wagner,L.C., Hodgkinson,C.A., Goldman,D.
            and Marinkovic,K.
  TITLE     Neural indices of heritable impulsivity: Impact of the COMT
            Val158Met polymorphism on frontal beta power during early motor
            preparation
  JOURNAL   Biol Psychol 191, 108826 (2024)
   PUBMED   38862067
  REMARK    GeneRIF: Neural indices of heritable impulsivity: Impact of the
            COMT Val158Met polymorphism on frontal beta power during early
            motor preparation.
REFERENCE   3  (bases 1 to 2272)
  AUTHORS   Yousuf,F., Fatima,T., Rehman,R., Azam,I., Khan,S., Anis,M.,
            Mansha,R. and Khan,S.
  TITLE     Association of catechol-o-methyltransferase gene polymorphism with
            preeclampsia and biomarkers of oxidative stress: Study protocol for
            a prospective case-control study in Pakistan
  JOURNAL   PLoS One 19 (6), e0304314 (2024)
   PUBMED   38861573
  REMARK    GeneRIF: Association of catechol-o-methyltransferase gene
            polymorphism with preeclampsia and biomarkers of oxidative stress:
            Study protocol for a prospective case-control study in Pakistan.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2272)
  AUTHORS   Fernandez-de-Las-Penas,C., Ambite-Quesada,S.,
            Fernandez-Mendez,L.M., Jimenez-Antona,C., Gomez-Calero,C.,
            Pocinho,R., Valera-Calero,J.A., Cigaran-Mendez,M. and
            Arendt-Nielsen,L.
  TITLE     Association of OPRM1 rs1799971, HTR1B rs6296 and COMT rs4680
            polymorphisms with clinical phenotype among women with fibromyalgia
  JOURNAL   Sci Rep 14 (1), 11273 (2024)
   PUBMED   38760456
  REMARK    GeneRIF: Association of OPRM1 rs1799971, HTR1B rs6296 and COMT
            rs4680 polymorphisms with clinical phenotype among women with
            fibromyalgia.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2272)
  AUTHORS   Marjani,A., Poursharifi,N., Sajedi,A. and Tatari,M.
  TITLE     Age and Sex-related Chromogranin A Gene Polymorphisms and its
            Association with Metabolic Syndrome Components
  JOURNAL   J ASEAN Fed Endocr Soc 39 (1), 45-52 (2024)
   PUBMED   38863909
  REMARK    GeneRIF: Age and Sex-related Chromogranin A Gene Polymorphisms and
            its Association with Metabolic Syndrome Components.
REFERENCE   6  (bases 1 to 2272)
  AUTHORS   Grossman,M.H., Emanuel,B.S. and Budarf,M.L.
  TITLE     Chromosomal mapping of the human catechol-O-methyltransferase gene
            to 22q11.1----q11.2
  JOURNAL   Genomics 12 (4), 822-825 (1992)
   PUBMED   1572656
REFERENCE   7  (bases 1 to 2272)
  AUTHORS   Ulmanen,I. and Lundstrom,K.
  TITLE     Cell-free synthesis of rat and human catechol O-methyltransferase.
            Insertion of the membrane-bound form into microsomal membranes in
            vitro
  JOURNAL   Eur J Biochem 202 (3), 1013-1020 (1991)
   PUBMED   1765063
REFERENCE   8  (bases 1 to 2272)
  AUTHORS   Lundstrom,K., Salminen,M., Jalanko,A., Savolainen,R. and Ulmanen,I.
  TITLE     Cloning and characterization of human placental
            catechol-O-methyltransferase cDNA
  JOURNAL   DNA Cell Biol 10 (3), 181-189 (1991)
   PUBMED   1707278
REFERENCE   9  (bases 1 to 2272)
  AUTHORS   Bertocci,B., Miggiano,V., Da Prada,M., Dembic,Z., Lahm,H.W. and
            Malherbe,P.
  TITLE     Human catechol-O-methyltransferase: cloning and expression of the
            membrane-associated form
  JOURNAL   Proc Natl Acad Sci U S A 88 (4), 1416-1420 (1991)
   PUBMED   1847521
REFERENCE   10 (bases 1 to 2272)
  AUTHORS   Schultz,E.
  TITLE     Catechol-O-methyltransferase and aromatic L-amino acid
            decarboxylase activities in human gastrointestinal tissues
  JOURNAL   Life Sci 49 (10), 721-725 (1991)
   PUBMED   1875781
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX461394.2, AK290440.1 and
            AC005663.2.
            
            On Aug 31, 2019 this sequence version replaced NM_000754.3.
            
            Summary: Catechol-O-methyltransferase catalyzes the transfer of a
            methyl group from S-adenosylmethionine to catecholamines, including
            the neurotransmitters dopamine, epinephrine, and norepinephrine.
            This O-methylation results in one of the major degradative pathways
            of the catecholamine transmitters. In addition to its role in the
            metabolism of endogenous substances, COMT is important in the
            metabolism of catechol drugs used in the treatment of hypertension,
            asthma, and Parkinson disease. COMT is found in two forms in
            tissues, a soluble form (S-COMT) and a membrane-bound form
            (MB-COMT). The differences between S-COMT and MB-COMT reside within
            the N-termini. Several transcript variants are formed through the
            use of alternative translation initiation sites and promoters.
            [provided by RefSeq, Sep 2008].
            
            Transcript Variant: This variant (1, also known as MB-COMT)
            represents the predominant transcript and encodes the longer
            isoform (MB-COMT). Variants 1, 2, 3, and 5 all encode isoform
            MB-COMT and may also make the shorter isoform S-COMT at a low
            level. MB-COMT is a membrane-bound protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: SRR14038197.817540.1,
                                           SRR14038192.1640489.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361682.11/ ENSP00000354511.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-226               BX461394.2         41-266
            227-1043            AK290440.1         197-1013
            1044-2272           AC005663.2         22566-23794
FEATURES             Location/Qualifiers
     source          1..2272
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..2272
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
                     /note="catechol-O-methyltransferase"
                     /db_xref="GeneID:1312"
                     /db_xref="HGNC:HGNC:2228"
                     /db_xref="MIM:116790"
     exon            1..126
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
                     /inference="alignment:Splign:2.1.0"
     exon            127..217
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
                     /inference="alignment:Splign:2.1.0"
     CDS             218..1033
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
                     /EC_number="2.1.1.6"
                     /note="isoform MB-COMT is encoded by transcript variant 1;
                     epididymis secretory sperm binding protein Li 98n;
                     testicular tissue protein Li 42"
                     /codon_start=1
                     /product="catechol O-methyltransferase isoform MB-COMT"
                     /protein_id="NP_000745.1"
                     /db_xref="CCDS:CCDS13770.1"
                     /db_xref="GeneID:1312"
                     /db_xref="HGNC:HGNC:2228"
                     /db_xref="MIM:116790"
                     /translation="MPEAPPLLLAAVLLGLVLLVVLLLLLRHWGWGLCLIGWNEFILQ
                     PIHNLLMGDTKEQRILNHVLQHAEPGNAQSVLEAIDTYCEQKEWAMNVGDKKGKIVDA
                     VIQEHQPSVLLELGAYCGYSAVRMARLLSPGARLITIEINPDCAAITQRMVDFAGVKD
                     KVTLVVGASQDIIPQLKKKYDVDTLDMVFLDHWKDRYLPDTLLLEECGLLRKGTVLLA
                     DNVICPGAPDFLAHVRGSSCFECTHYQSFLEYREVVDGLEKAIYKGPGSEAGP"
     exon            218..506
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
                     /inference="alignment:Splign:2.1.0"
     exon            507..700
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
                     /inference="alignment:Splign:2.1.0"
     exon            701..832
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
                     /inference="alignment:Splign:2.1.0"
     exon            833..2272
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1293..1298
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
                     /note="hexamer: AATAGA"
     polyA_site      1313
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
                     /note="major polyA site"
     polyA_site      2231
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
     polyA_site      2249
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
     polyA_site      2272
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
ORIGIN      
        1 aatccccgca gcgccaccgc cattgccgcc atcgtcgtgg ggcttctggg gcagctaggg
       61 ctgcccgccg cgctgcctgc gccggaccgg ggcgggtcca gtcccgggcg ggccgtcgcg
      121 ggagagaaat aacatctgct ttgctgccga gctcagagga gaccccagac ccctcccgca
      181 gccagagggc tggagcctgc tcagaggtgc tttgaagatg ccggaggccc cgcctctgct
      241 gttggcagct gtgttgctgg gcctggtgct gctggtggtg ctgctgctgc ttctgaggca
      301 ctggggctgg ggcctgtgcc ttatcggctg gaacgagttc atcctgcagc ccatccacaa
      361 cctgctcatg ggtgacacca aggagcagcg catcctgaac cacgtgctgc agcatgcgga
      421 gcccgggaac gcacagagcg tgctggaggc cattgacacc tactgcgagc agaaggagtg
      481 ggccatgaac gtgggcgaca agaaaggcaa gatcgtggac gccgtgattc aggagcacca
      541 gccctccgtg ctgctggagc tgggggccta ctgtggctac tcagctgtgc gcatggcccg
      601 cctgctgtca ccaggggcga ggctcatcac catcgagatc aaccccgact gtgccgccat
      661 cacccagcgg atggtggatt tcgctggcgt gaaggacaag gtcacccttg tggttggagc
      721 gtcccaggac atcatccccc agctgaagaa gaagtatgat gtggacacac tggacatggt
      781 cttcctcgac cactggaagg accggtacct gccggacacg cttctcttgg aggaatgtgg
      841 cctgctgcgg aaggggacag tgctactggc tgacaacgtg atctgcccag gtgcgccaga
      901 cttcctagca cacgtgcgcg ggagcagctg ctttgagtgc acacactacc aatcgttcct
      961 ggaatacagg gaggtggtgg acggcctgga gaaggccatc tacaagggcc caggcagcga
     1021 agcagggccc tgactgcccc cccggccccc ctctcgggct ctctcaccca gcctggtact
     1081 gaaggtgcca gacgtgctcc tgctgacctt ctgcggctcc gggctgtgtc ctaaatgcaa
     1141 agcacacctc ggccgaggcc tgcgccctga catgctaacc tctctgaact gcaacactgg
     1201 attgttcttt tttaagactc aatcatgact tctttactaa cactggctag ctatattatc
     1261 ttatatacta atatcatgtt ttaaaaatat aaaatagaaa ttaagaatct aaatatttag
     1321 atataactcg acttagtaca tccttctcaa ctgccattcc cctgctgccc ttgacttggg
     1381 caccaaacat tcaaagctcc ccttgacgga cgctaacgct aagggcgggg cccctagctg
     1441 gctgggttct gggtggcacg cctggcccac tggcctccca gccacagtgg tgcagaggtc
     1501 agccctcctg cagctaggcc aggggcacct gttagcccca tggggacgac tgccggcctg
     1561 ggaaacgaag aggagtcagc cagcattcac acctttctga ccaagcaggc gctggggaca
     1621 ggtggacccc gcagcagcac cagcccctct gggccccatg tggcacagag tggaagcatc
     1681 tccttcccta ctccccactg ggccttgctt acagaagagg caatggctca gaccagctcc
     1741 cgcatccctg tagttgcctc cctggcccat gagtgaggat gcagtgctgg tttctgccca
     1801 cctacaccta gagctgtccc catctcctcc aaggggtcag actgctagcc acctcagagg
     1861 ctccaagggc ccagttccca ggcccaggac aggaatcaac cctgtgctag ctgagttcac
     1921 ctgcaccgag accagcccct agccaagatt ctactcctgg gctcaaggcc tggctagccc
     1981 ccagccagcc cactcctatg gatagacaga ccagtgagcc caagtggaca agtttggggc
     2041 cacccaggga ccagaaacag agcctctgca ggacacagca gatgggcacc tgggaccacc
     2101 tccacccagg gccctgcccc agacgcgcag aggcccgaca caagggagaa gccagccact
     2161 tgtgccagac ctgagtggca gaaagcaaaa agttcctttg ctgctttaat ttttaaattt
     2221 tcttacaaaa atttaggtgt ttaccaatag tcttattttg gcttattttt aa
//
