LOCUS       NM_002686                958 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens phenylethanolamine N-methyltransferase (PNMT),
            transcript variant 1, mRNA.
ACCESSION   NM_002686
VERSION     NM_002686.4
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 958)
  AUTHORS   Sasaki,Y., Kanzawa,M., Yamamoto,M., Kanie,K., Bando,H., Yoshino,K.,
            Hirota,Y., Shigemura,K., Fujisawa,M., Ogawa,W. and Fukuoka,H.
  TITLE     Composite paraganglioma-ganglioneuroma with atypical catecholamine
            profile and phenylethanolamine N-methyltransferase expression: a
            case report and literature review
  JOURNAL   Endocr J 71 (1), 65-74 (2024)
   PUBMED   37952980
  REMARK    GeneRIF: Composite paraganglioma-ganglioneuroma with atypical
            catecholamine profile and phenylethanolamine N-methyltransferase
            expression: a case report and literature review.
            Review article
REFERENCE   2  (bases 1 to 958)
  AUTHORS   Manso,J., Bertazza,L., Barollo,S., Mondin,A., Censi,S.,
            Carducci,S., Ferrara,A.M., Boschin,I.M., Zovato,S., Schiavi,F.,
            Gregianin,M., Pennelli,G., Iacobone,M. and Mian,C.
  TITLE     Overexpression of miR-375 and L-type Amino Acid Transporter 1 in
            Pheochromocytoma and Their Molecular and Functional Implications
  JOURNAL   Int J Mol Sci 23 (5), 2413 (2022)
   PUBMED   35269556
  REMARK    GeneRIF: Overexpression of miR-375 and L-type Amino Acid
            Transporter 1 in Pheochromocytoma and Their Molecular and
            Functional Implications.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 958)
  AUTHORS   Chen,W., Liu,C., Yang,Y. and Tian,L.
  TITLE     The effect of transcutaneous electrical nerve stimulation (TENS) on
            pain control and phenylethanolamine-N-methyltransferase (PNMT) gene
            expression after cesarean section
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 67 (3), 153-157 (2021)
   PUBMED   34933717
  REMARK    GeneRIF: The effect of transcutaneous electrical nerve stimulation
            (TENS) on pain control and phenylethanolamine-N-methyltransferase
            (PNMT) gene expression after cesarean section.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 958)
  AUTHORS   Isobe,K., Nakai,T., Yukimasa,N., Nanmoku,T., Takekoshi,K. and
            Nomura,F.
  TITLE     Expression of mRNA coding for four catecholamine-synthesizing
            enzymes in human adrenal pheochromocytomas
  JOURNAL   Eur J Endocrinol 138 (4), 383-387 (1998)
   PUBMED   9578504
REFERENCE   5  (bases 1 to 958)
  AUTHORS   Caine,J.M., Macreadie,I.G., Grunewald,G.L. and McLeish,M.J.
  TITLE     Recombinant human phenylethanolamine N-methyltransferase:
            overproduction in Escherichia coli, purification, and
            characterization
  JOURNAL   Protein Expr Purif 8 (2), 160-166 (1996)
   PUBMED   8812853
REFERENCE   6  (bases 1 to 958)
  AUTHORS   Hoehe,M.R., Plaetke,R., Otterud,B., Stauffer,D., Holik,J.,
            Byerley,W.F., Baetge,E.E., Gershon,E.S., Lalouel,J.M. and
            Leppert,M.
  TITLE     Genetic linkage of the human gene for phenylethanolamine
            N-methyltransferase (PNMT), the adrenaline-synthesizing enzyme, to
            DNA markers on chromosome 17q21-q22
  JOURNAL   Hum Mol Genet 1 (3), 175-178 (1992)
   PUBMED   1303174
REFERENCE   7  (bases 1 to 958)
  AUTHORS   Sasaoka,T., Kaneda,N., Kurosawa,Y., Fujita,K. and Nagatsu,T.
  TITLE     Structure of human phenylethanolamine n-methyltransferase gene:
            existence of two types of mRNA with different transcription
            initiation sites
  JOURNAL   Neurochem Int 15 (4), 555-565 (1989)
   PUBMED   20504532
REFERENCE   8  (bases 1 to 958)
  AUTHORS   Kaneda,N., Ichinose,H., Kobayashi,K., Oka,K., Kishi,F.,
            Nakazawa,A., Kurosawa,Y., Fujita,K. and Nagatsu,T.
  TITLE     Molecular cloning of cDNA and chromosomal assignment of the gene
            for human phenylethanolamine N-methyltransferase, the enzyme for
            epinephrine biosynthesis
  JOURNAL   J Biol Chem 263 (16), 7672-7677 (1988)
   PUBMED   3372503
REFERENCE   9  (bases 1 to 958)
  AUTHORS   Baetge,E.E., Behringer,R.R., Messing,A., Brinster,R.L. and
            Palmiter,R.D.
  TITLE     Transgenic mice express the human phenylethanolamine
            N-methyltransferase gene in adrenal medulla and retina
  JOURNAL   Proc Natl Acad Sci U S A 85 (10), 3648-3652 (1988)
   PUBMED   2835776
REFERENCE   10 (bases 1 to 958)
  AUTHORS   Burke,W.J., Hanson,D.M. and Chung,H.D.
  TITLE     A highly sensitive assay for phenylethanolamine N-methyltransferase
            in human brain
  JOURNAL   Proc Soc Exp Biol Med 181 (1), 66-70 (1986)
   PUBMED   3945626
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC037246.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 27, 2012 this sequence version replaced NM_002686.3.
            
            Summary: The product of this gene catalyzes the last step of the
            catecholamine biosynthesis pathway, which methylates norepinephrine
            to form epinephrine (adrenaline). The enzyme also has
            beta-carboline 2N-methyltransferase activity. This gene is thought
            to play a key step in regulating epinephrine production.
            Alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Nov 2012].
            
            Transcript Variant: This variant (1) encodes a functional protein.
            
            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 :: BC037246.1, J03727.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000269582.3/ ENSP00000269582.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-958               BC037246.1         200-1157
FEATURES             Location/Qualifiers
     source          1..958
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..958
                     /gene="PNMT"
                     /gene_synonym="PENT; PNMTase"
                     /note="phenylethanolamine N-methyltransferase"
                     /db_xref="GeneID:5409"
                     /db_xref="HGNC:HGNC:9160"
                     /db_xref="MIM:171190"
     exon            1..225
                     /gene="PNMT"
                     /gene_synonym="PENT; PNMTase"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..872
                     /gene="PNMT"
                     /gene_synonym="PENT; PNMTase"
                     /EC_number="2.1.1.28"
                     /note="phenylethanolamine N-methylase; noradrenaline
                     N-methyltransferase"
                     /codon_start=1
                     /product="phenylethanolamine N-methyltransferase"
                     /protein_id="NP_002677.1"
                     /db_xref="CCDS:CCDS11343.1"
                     /db_xref="GeneID:5409"
                     /db_xref="HGNC:HGNC:9160"
                     /db_xref="MIM:171190"
                     /translation="MSGADRSPNAGAAPDSAPGQAAVASAYQRFEPRAYLRNNYAPPR
                     GDLCNPNGVGPWKLRCLAQTFATGEVSGRTLIDIGSGPTVYQLLSACSHFEDITMTDF
                     LEVNRQELGRWLQEEPGAFNWSMYSQHACLIEGKGECWQDKERQLRARVKRVLPIDVH
                     QPQPLGAGSPAPLPADALVSAFCLEAVSPDLASFQRALDHITTLLRPGGHLLLIGALE
                     ESWYLAGEARLTVVPVSEEEVREALVRSGYKVRDLRTYIMPAHLQTGVDDVKGVFFAW
                     AQKVGL"
     exon            226..433
                     /gene="PNMT"
                     /gene_synonym="PENT; PNMTase"
                     /inference="alignment:Splign:2.1.0"
     exon            434..958
                     /gene="PNMT"
                     /gene_synonym="PENT; PNMTase"
                     /inference="alignment:Splign:2.1.0"
     regulatory      937..942
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PNMT"
                     /gene_synonym="PENT; PNMTase"
                     /note="hexamer: AATAAA"
     polyA_site      958
                     /gene="PNMT"
                     /gene_synonym="PENT; PNMTase"
                     /note="major polyA site"
ORIGIN      
        1 actgggcgga ccgcggcggc agcatgagcg gcgcagaccg tagccccaat gcgggcgcag
       61 cccctgactc ggccccgggc caggcggcgg tggcttcggc ctaccagcgc ttcgagccgc
      121 gcgcctacct ccgcaacaac tacgcgcccc ctcgcgggga cctgtgcaac ccgaacggcg
      181 tcgggccgtg gaagctgcgc tgcttggcgc agaccttcgc caccggtgaa gtgtccggac
      241 gcaccctcat cgacattggt tcaggcccca ccgtgtacca gctgctcagt gcctgcagcc
      301 actttgagga catcaccatg acagatttcc tggaggtcaa ccgccaggag ctggggcgct
      361 ggctgcagga ggagccgggg gccttcaact ggagcatgta cagccaacat gcctgcctca
      421 ttgagggcaa gggggaatgc tggcaggata aggagcgcca gctgcgagcc agggtgaaac
      481 gggtcctgcc catcgacgtg caccagcccc agcccctggg tgctgggagc ccagctcccc
      541 tgcctgctga cgccctggtc tctgccttct gcttggaggc tgtgagccca gatcttgcca
      601 gctttcagcg ggccctggac cacatcacca cgctgctgag gcctgggggg cacctcctcc
      661 tcatcggggc cctggaggag tcgtggtacc tggctgggga ggccaggctg acggtggtgc
      721 cagtgtctga ggaggaggtg agggaggccc tggtgcgtag tggctacaag gtccgggacc
      781 tccgcaccta tatcatgcct gcccaccttc agacaggcgt agatgatgtc aagggcgtct
      841 tcttcgcctg ggctcagaag gttgggctgt gagggctgta cctggtgccc tgtggccccc
      901 acccacctgg attccctgtt ctttgaagtg gcacctaata aagaaataat accctgcc
//
