LOCUS       NM_000036               2335 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens adenosine monophosphate deaminase 1 (AMPD1),
            transcript variant 1, mRNA.
ACCESSION   NM_000036
VERSION     NM_000036.3
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 2335)
  AUTHORS   Leonska-Duniec,A., Maculewicz,E., Huminska-Lisowska,K.,
            Maciejewska-Skrendo,A., Leznicka,K., Cieszczyk,P., Sawczuk,M.,
            Trybek,G., Wilk,M., Lepionka,W. and Ficek,K.
  TITLE     AMPD1 C34T Polymorphism (rs17602729) Is Not Associated with
            Post-Exercise Changes of Body Weight, Body Composition, and
            Biochemical Parameters in Caucasian Females
  JOURNAL   Genes (Basel) 11 (5), 558 (2020)
   PUBMED   32429460
  REMARK    GeneRIF: AMPD1 C34T Polymorphism (rs17602729) Is Not Associated
            with Post-Exercise Changes of Body Weight, Body Composition, and
            Biochemical Parameters in Caucasian Females.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2335)
  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   3  (bases 1 to 2335)
  AUTHORS   Mattii,L., Bianchi,F., Falleni,A., Frascarelli,S., Masini,M.,
            Ali,G., Chiellini,G. and Sabbatini,A.R.M.
  TITLE     Ultrastructural Localization of Histidine-rich Glycoprotein in
            Skeletal Muscle Fibers: Colocalization With AMP Deaminase
  JOURNAL   J Histochem Cytochem 68 (2), 139-148 (2020)
   PUBMED   31880188
  REMARK    GeneRIF: Ultrastructural Localization of Histidine-rich
            Glycoprotein in Skeletal Muscle Fibers: Colocalization With AMP
            Deaminase.
REFERENCE   4  (bases 1 to 2335)
  AUTHORS   Rannou,F., Scotet,V., Marcorelles,P., Monnoyer,R. and Le
            Marechal,C.
  TITLE     Effects of AMPD1 common mutation on the metabolic-chronotropic
            relationship: Insights from patients with myoadenylate deaminase
            deficiency
  JOURNAL   PLoS One 12 (11), e0187266 (2017)
   PUBMED   29095874
  REMARK    GeneRIF: The metabolic-chronotropic response is decreased in
            skeletal muscle MAD deficiency, suggesting a biological mechanism
            by which AMPD1 gene exerts cardiac effect
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2335)
  AUTHORS   Bausch-Jurken,M.T., Mahnke-Zizelman,D.K., Morisaki,T. and
            Sabina,R.L.
  TITLE     Molecular cloning of AMP deaminase isoform L. Sequence and
            bacterial expression of human AMPD2 cDNA
  JOURNAL   J Biol Chem 267 (31), 22407-22413 (1992)
   PUBMED   1429593
REFERENCE   6  (bases 1 to 2335)
  AUTHORS   Mahnke-Zizelman,D.K. and Sabina,R.L.
  TITLE     Cloning of human AMP deaminase isoform E cDNAs. Evidence for a
            third AMPD gene exhibiting alternatively spliced 5'-exons
  JOURNAL   J Biol Chem 267 (29), 20866-20877 (1992)
   PUBMED   1400401
REFERENCE   7  (bases 1 to 2335)
  AUTHORS   Morisaki,T., Gross,M., Morisaki,H., Pongratz,D., Zollner,N. and
            Holmes,E.W.
  TITLE     Molecular basis of AMP deaminase deficiency in skeletal muscle
  JOURNAL   Proc Natl Acad Sci U S A 89 (14), 6457-6461 (1992)
   PUBMED   1631143
REFERENCE   8  (bases 1 to 2335)
  AUTHORS   Sabina,R.L., Fishbein,W.N., Pezeshkpour,G., Clarke,P.R. and
            Holmes,E.W.
  TITLE     Molecular analysis of the myoadenylate deaminase deficiencies
  JOURNAL   Neurology 42 (1), 170-179 (1992)
   PUBMED   1370861
REFERENCE   9  (bases 1 to 2335)
  AUTHORS   Sabina,R.L., Morisaki,T., Clarke,P., Eddy,R., Shows,T.B.,
            Morton,C.C. and Holmes,E.W.
  TITLE     Characterization of the human and rat myoadenylate deaminase genes
  JOURNAL   J Biol Chem 265 (16), 9423-9433 (1990)
   PUBMED   2345176
REFERENCE   10 (bases 1 to 2335)
  AUTHORS   Fishbein,W.N., Armbrustmacher,V.W. and Griffin,J.L.
  TITLE     Myoadenylate deaminase deficiency: a new disease of muscle
  JOURNAL   Science 200 (4341), 545-548 (1978)
   PUBMED   644316
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL096773.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 21, 2020 this sequence version replaced NM_000036.2.
            
            Summary: Adenosine monophosphate deaminase 1 catalyzes the
            deamination of AMP to IMP in skeletal muscle and plays an important
            role in the purine nucleotide cycle. Two other genes have been
            identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific
            isoforms, respectively. Deficiency of the muscle-specific enzyme is
            apparently a common cause of exercise-induced myopathy and probably
            the most common cause of metabolic myopathy in the human.
            Alternatively spliced transcript variants encoding different
            isoforms have been identified in this gene.[provided by RefSeq, Feb
            2010].
            
            Transcript Variant: This variant (1) encodes the longer 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.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000520113.7/ ENSP00000430075.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-97                AL096773.6         109563-109659
            98-109              AL096773.6         111662-111673
            110-290             AL096773.6         116368-116548
            291-456             AL096773.6         118199-118364
            457-622             AL096773.6         120745-120910
            623-842             AL096773.6         124631-124850
            843-972             AL096773.6         125401-125530
            973-1167            AL096773.6         126582-126776
            1168-1299           AL096773.6         127068-127199
            1300-1463           AL096773.6         127595-127758
            1464-1590           AL096773.6         129106-129232
            1591-1754           AL096773.6         129416-129579
            1755-1875           AL096773.6         130237-130357
            1876-2049           AL096773.6         131027-131200
            2050-2160           AL096773.6         131360-131470
            2161-2335           AL096773.6         131837-132011
FEATURES             Location/Qualifiers
     source          1..2335
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.2"
     gene            1..2335
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /note="adenosine monophosphate deaminase 1"
                     /db_xref="GeneID:270"
                     /db_xref="HGNC:HGNC:468"
                     /db_xref="MIM:102770"
     exon            1..97
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /inference="alignment:Splign:2.1.0"
     CDS             76..2319
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /EC_number="3.5.4.6"
                     /note="isoform 1 is encoded by transcript variant 1; AMPD;
                     skeletal muscle AMPD; adenosine monophosphate deaminase 1
                     (isoform M); AMP deaminase 1; adenosine monophosphate
                     deaminase-1 (muscle); myoadenylate deaminase"
                     /codon_start=1
                     /product="AMP deaminase 1 isoform 1"
                     /protein_id="NP_000027.3"
                     /db_xref="CCDS:CCDS876.3"
                     /db_xref="GeneID:270"
                     /db_xref="HGNC:HGNC:468"
                     /db_xref="MIM:102770"
                     /translation="MPLFKLPAEEKQIDDAMRNFAEKVFASEVKDEGGRQEISPFDVD
                     EICPISHHEMQAHIFHLETLSTSTEARRKKRFQGRKTVNLSIPLSETSSTKLSHIDEY
                     ISSSPTYQTVPDFQRVQITGDYASGVTVEDFEIVCKGLYRALCIREKYMQKSFQRFPK
                     TPSKYLRNIDGEAWVANESFYPVFTPPVKKGEDPFRTDNLPENLGYHLKMKDGVVYVY
                     PNEAAVSKDEPKPLPYPNLDTFLDDMNFLLALIAQGPVKTYTHRRLKFLSSKFQVHQM
                     LNEMDELKELKNNPHRDFYNCRKVDTHIHAAACMNQKHLLRFIKKSYQIDADRVVYST
                     KEKNLTLKELFAKLKMHPYDLTVDSLDVHAGRQTFQRFDKFNDKYNPVGASELRDLYL
                     KTDNYINGEYFATIIKEVGADLVEAKYQHAEPRLSIYGRSPDEWSKLSSWFVCNRIHC
                     PNMTWMIQVPRIYDVFRSKNFLPHFGKMLENIFMPVFEATINPQADPELSVFLKHITG
                     FDSVDDESKHSGHMFSSKSPKPQEWTLEKNPSYTYYAYYMYANIMVLNSLRKERGMNT
                     FLFRPHCGEAGALTHLMTAFMIADDISHGLNLKKSPVLQYLFFLAQIPIAMSPLSNNS
                     LFLEYAKNPFLDFLQKGLMISLSTDDPMQFHFTKEPLMEEYAIAAQVFKLSTCDMCEV
                     ARNSVLQCGISHEEKVKFLGDNYLEEGPAGNDIRRTNVAQIRMAYRYETWCYELNLIA
                     EGLKSTE"
     exon            98..109
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /inference="alignment:Splign:2.1.0"
     exon            110..290
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /inference="alignment:Splign:2.1.0"
     exon            291..456
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /inference="alignment:Splign:2.1.0"
     exon            457..622
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /inference="alignment:Splign:2.1.0"
     exon            623..842
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /inference="alignment:Splign:2.1.0"
     exon            843..972
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1167
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1168..1299
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1300..1463
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1464..1590
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1591..1754
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1755..1875
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1876..2049
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /inference="alignment:Splign:2.1.0"
     exon            2050..2160
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /inference="alignment:Splign:2.1.0"
     exon            2161..2335
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2315..2320
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /note="hexamer: AATAAA"
     polyA_site      2335
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /note="major polyA site"
ORIGIN      
        1 gtcagtcagt caccccacag tctcctctct cttcttttct actgtgctat cctagaatca
       61 aggatttcag caacaatgcc tctgttcaaa ctcccagctg aagagaaaca aattgatgat
      121 gcaatgcgca actttgctga aaaagtgttt gcctctgaag tcaaagatga aggaggtcgt
      181 caggagattt ccccctttga tgtggatgag atctgtccga tttctcatca tgagatgcaa
      241 gcacacatat tccatctgga gactctgtcc acctccacag aagccaggag aaaaaagcgt
      301 ttccaaggac ggaagactgt taatttgtcc attccactaa gtgaaacatc ttccaccaaa
      361 ctgtcccaca ttgatgaata catttcctca tctccaacct accagaccgt gcctgatttt
      421 cagagagtgc agattactgg tgactatgcc tctggggtta cagttgaaga ttttgaaatt
      481 gtttgcaaag gtctgtatcg ggcactatgc atacgtgaga aatacatgca gaagtcgttt
      541 cagaggttcc ctaaaacccc ttccaaatac ttgcggaaca ttgatggtga ggcttgggta
      601 gcaaatgaga gcttctatcc agtctttact cctcctgtga agaagggaga ggaccccttc
      661 cgaacagaca accttcctga aaacctgggc tatcacctca aaatgaagga cggtgtagtt
      721 tacgtctatc ctaatgaagc agcagtcagc aaagatgagc ctaagccact tccttaccca
      781 aatctggaca ccttcttaga cgatatgaat tttttacttg ctttaattgc tcaaggacct
      841 gttaagacct atacccaccg gcgcctgaag ttcctctcct ccaagttcca ggtccatcag
      901 atgcttaacg agatggacga gttaaaggag ctgaaaaaca acccccaccg agatttttat
      961 aactgcagga aggtggacac ccatatccat gcagccgctt gcatgaacca gaaacatctg
     1021 ctgcgtttta ttaagaaatc ttaccaaatt gatgctgaca gagtggtcta tagcaccaaa
     1081 gagaagaatc tgaccctaaa ggaacttttt gctaaattaa aaatgcatcc ttatgacctg
     1141 actgttgatt ctctggatgt tcatgctgga cgccagacct tccagcgttt tgataagttc
     1201 aatgacaaat ataatcctgt aggagcaagt gagctacggg acctctactt gaagacagac
     1261 aattacatta atggggaata ttttgccact atcatcaagg aggtaggtgc ggacctggtg
     1321 gaggccaagt accagcatgc tgagccccgc ctgtccatct atggccgcag tcctgatgag
     1381 tggagcaaac tctcctcctg gttcgtctgc aatcgcatcc actgccccaa catgacatgg
     1441 atgatccagg ttcccaggat ctatgatgtg ttccgttcca agaatttcct tccacatttt
     1501 ggaaaaatgc tggagaatat tttcatgcca gtgtttgagg ccaccatcaa cccccaggct
     1561 gacccagaac tcagtgtctt cctcaagcat atcactggct ttgacagtgt ggatgatgag
     1621 tccaaacaca gtggccacat gttctcctcc aagagtccca agccccagga gtggacattg
     1681 gaaaagaatc catcttacac ttactatgcc tactacatgt atgcaaacat catggtgctc
     1741 aacagcctga gaaaggaacg aggcatgaat acgtttctgt tccgacctca ctgtggagaa
     1801 gctggagccc tcacccatct catgacagca ttcatgatag cagatgatat ctctcatggc
     1861 ctaaatttaa aaaagagtcc cgtgctacag tacttgtttt tcttagccca aattcccatc
     1921 gccatgtcac cactaagtaa caatagccta tttctagagt atgccaaaaa tccttttttg
     1981 gatttccttc agaaagggct aatgatctca ctgtctacag atgacccaat gcaattccac
     2041 tttaccaagg agcccctaat ggaagaatat gctattgctg cacaagtctt caagctgagc
     2101 acctgtgata tgtgcgaagt ggcaaggaac agtgtcttgc agtgtggaat ttctcatgag
     2161 gagaaagtaa agtttctggg cgacaattac cttgaggaag gccctgctgg aaatgatatc
     2221 cggaggacaa atgtagccca aatccgcatg gcctatcgct atgaaacctg gtgttatgaa
     2281 ctcaatttaa ttgctgaggg tcttaaatca acagaataaa aaaaagtaaa ccaaa
//
