LOCUS       NM_001025389            4189 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens adenosine monophosphate deaminase 3 (AMPD3),
            transcript variant 2, mRNA.
ACCESSION   NM_001025389
VERSION     NM_001025389.2
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 4189)
  AUTHORS   Chen,C., Xie,T., Zhang,Y., Wang,Y., Yu,F., Lin,L., Zhang,W.,
            Brown,B.C., Zhang,X., Kellems,R.E., D'Alessandro,A. and Xia,Y.
  TITLE     Erythrocyte ENT1-AMPD3 Axis is an Essential Purinergic Hypoxia
            Sensor and Energy Regulator Combating CKD in a Mouse Model
  JOURNAL   J Am Soc Nephrol 34 (10), 1647-1671 (2023)
   PUBMED   37725437
  REMARK    GeneRIF: Erythrocyte ENT1-AMPD3 Axis is an Essential Purinergic
            Hypoxia Sensor and Energy Regulator Combating CKD in a Mouse Model.
REFERENCE   2  (bases 1 to 4189)
  AUTHORS   Osanami,A., Sato,T., Toda,Y., Shimizu,M., Kuno,A., Kouzu,H.,
            Yano,T., Ohwada,W., Ogawa,T., Miura,T. and Tanno,M.
  TITLE     Adenosine monophosphate deaminase in the endoplasmic
            reticulum-mitochondria interface promotes mitochondrial Ca2+
            overload in type 2 diabetes rat hearts
  JOURNAL   J Diabetes Investig 14 (4), 560-569 (2023)
   PUBMED   36815317
  REMARK    GeneRIF: Adenosine monophosphate deaminase in the endoplasmic
            reticulum-mitochondria interface promotes mitochondrial Ca[2+]
            overload in type 2 diabetes rat hearts.
REFERENCE   3  (bases 1 to 4189)
  AUTHORS   Hsu,C.M., Chang,S.F., Tsai,Y.T., Tsai,M.S., Chang,G.H., Chen,H.C.,
            Huang,P.C., Ko,C.A., Wu,C.Y., Lin,S.F. and Yang,M.Y.
  TITLE     Down-regulation of AMPD3 Is Associated With Poor Survival in Head
            and Neck Squamous Cell Carcinoma
  JOURNAL   In Vivo 36 (2), 704-712 (2022)
   PUBMED   35241525
  REMARK    GeneRIF: Down-regulation of AMPD3 Is Associated With Poor Survival
            in Head and Neck Squamous Cell Carcinoma.
REFERENCE   4  (bases 1 to 4189)
  AUTHORS   Mahnke-Zizelman,D.K., Eddy,R., Shows,T.B. and Sabina,R.L.
  TITLE     Characterization of the human AMPD3 gene reveals that 5' exon
            useage is subject to transcriptional control by three tandem
            promoters and alternative splicing
  JOURNAL   Biochim Biophys Acta 1306 (1), 75-92 (1996)
   PUBMED   8611627
REFERENCE   5  (bases 1 to 4189)
  AUTHORS   Yamada,Y., Goto,H. and Ogasawara,N.
  TITLE     A point mutation responsible for human erythrocyte AMP deaminase
            deficiency
  JOURNAL   Hum Mol Genet 3 (2), 331-334 (1994)
   PUBMED   8004104
REFERENCE   6  (bases 1 to 4189)
  AUTHORS   Zydowo,M.M.
  TITLE     Regulatory effects of the lipid-cytosolic enzyme interaction: AMP
            deaminase
  JOURNAL   Acta Biochim Pol 40 (4), 429-432 (1993)
   PUBMED   8140814
  REMARK    Review article
REFERENCE   7  (bases 1 to 4189)
  AUTHORS   Yamada,Y., Goto,H. and Ogasawara,N.
  TITLE     Cloning and nucleotide sequence of the cDNA encoding human
            erythrocyte-specific AMP deaminase
  JOURNAL   Biochim Biophys Acta 1171 (1), 125-128 (1992)
   PUBMED   1420359
REFERENCE   8  (bases 1 to 4189)
  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   9  (bases 1 to 4189)
  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   10 (bases 1 to 4189)
  AUTHORS   Ashby,B. and Holmsen,H.
  TITLE     Platelet AMP deaminase. Purification and kinetic studies
  JOURNAL   J Biol Chem 256 (20), 10519-10523 (1981)
   PUBMED   7287721
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC021914.7 and D12775.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001025389.1.
            
            Summary: This gene encodes a member of the AMP deaminase gene
            family. The encoded protein is a highly regulated enzyme that
            catalyzes the hydrolytic deamination of adenosine monophosphate to
            inosine monophosphate, a branch point in the adenylate catabolic
            pathway. This gene encodes the erythrocyte (E) isoforms, whereas
            other family members encode isoforms that predominate in muscle (M)
            and liver (L) cells. Mutations in this gene lead to the clinically
            asymptomatic, autosomal recessive condition erythrocyte AMP
            deaminase deficiency. Alternatively spliced transcript variants
            encoding different isoforms of this gene have been described.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) contains an alternate exon for
            its 5' UTR, lacks a portion of the 5' coding region, and initiates
            translation at a downstream start codon, compared to variant 1. It
            encodes isoform 1B, which has a shorter N-terminus, compared to
            isoform 1A.
            
            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 :: D12775.1, SRR1803615.53725.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396553.7/ ENSP00000379801.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-88                AC021914.7         98131-98218         c
            89-2853             D12775.1           90-2854
            2854-4189           AC021914.7         45903-47238         c
FEATURES             Location/Qualifiers
     source          1..4189
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..4189
                     /gene="AMPD3"
                     /note="adenosine monophosphate deaminase 3"
                     /db_xref="GeneID:272"
                     /db_xref="HGNC:HGNC:470"
                     /db_xref="MIM:102772"
     exon            1..185
                     /gene="AMPD3"
                     /inference="alignment:Splign:2.1.0"
     exon            186..411
                     /gene="AMPD3"
                     /inference="alignment:Splign:2.1.0"
     CDS             191..2494
                     /gene="AMPD3"
                     /EC_number="3.5.4.6"
                     /note="isoform 1B is encoded by transcript variant 2;
                     adenosine monophosphate deaminase (isoform E); AMP
                     deaminase 3; erythrocyte-specific AMP deaminase;
                     erythrocyte type AMP deaminase; AMP aminohydrolase;
                     myoadenylate deaminase; erythrocyte AMP deaminase"
                     /codon_start=1
                     /product="AMP deaminase 3 isoform 1B"
                     /protein_id="NP_001020560.1"
                     /db_xref="CCDS:CCDS41617.1"
                     /db_xref="GeneID:272"
                     /db_xref="HGNC:HGNC:470"
                     /db_xref="MIM:102772"
                     /translation="MPRQFPKLNISEVDEQVRLLAEKVFAKVLREEDSKDALSLFTVP
                     EDCPIGQKEAKERELQKELAEQKSVETAKRKKSFKMIRSQSLSLQMPPQQDWKGPPAA
                     SPAMSPTTPVVTGATSLPTPAPYAMPEFQRVTISGDYCAGITLEDYEQAAKSLAKALM
                     IREKYARLAYHRFPRITSQYLGHPRADTAPPEEGLPDFHPPPLPQEDPYCLDDAPPNL
                     DYLVHMQGGILFVYDNKKMLEHQEPHSLPYPDLETYTVDMSHILALITDGPTKTYCHR
                     RLNFLESKFSLHEMLNEMSEFKELKSNPHRDFYNVRKVDTHIHAAACMNQKHLLRFIK
                     HTYQTEPDRTVAEKRGRKITLRQVFDGLHMDPYDLTVDSLDVHAGRQTFHRFDKFNSK
                     YNPVGASELRDLYLKTENYLGGEYFARMVKEVARELEESKYQYSEPRLSIYGRSPEEW
                     PNLAYWFIQHKVYSPNMRWIIQVPRIYDIFRSKKLLPNFGKMLENIFLPLFKATINPQ
                     DHRELHLFLKYVTGFDSVDDESKHSDHMFSDKSPNPDVWTSEQNPPYSYYLYYMYANI
                     MVLNNLRRERGLSTFLFRPHCGEAGSITHLVSAFLTADNISHGLLLKKSPVLQYLYYL
                     AQIPIAMSPLSNNSLFLEYSKNPLREFLHKGLHVSLSTDDPMQFHYTKEALMEEYAIA
                     AQVWKLSTCDLCEIARNSVLQSGLSHQEKQKFLGQNYYKEGPEGNDIRKTNVAQIRMA
                     FRYETLCNELSFLSDAMKSEEITALTN"
     exon            412..616
                     /gene="AMPD3"
                     /inference="alignment:Splign:2.1.0"
     exon            617..779
                     /gene="AMPD3"
                     /inference="alignment:Splign:2.1.0"
     exon            780..999
                     /gene="AMPD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..1129
                     /gene="AMPD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1130..1324
                     /gene="AMPD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1325..1456
                     /gene="AMPD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1457..1620
                     /gene="AMPD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1621..1747
                     /gene="AMPD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1748..1911
                     /gene="AMPD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1912..2032
                     /gene="AMPD3"
                     /inference="alignment:Splign:2.1.0"
     exon            2033..2206
                     /gene="AMPD3"
                     /inference="alignment:Splign:2.1.0"
     exon            2207..2317
                     /gene="AMPD3"
                     /inference="alignment:Splign:2.1.0"
     exon            2318..4189
                     /gene="AMPD3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3713..3718
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMPD3"
                     /note="hexamer: AATAAA"
     polyA_site      3736
                     /gene="AMPD3"
                     /note="major polyA site"
     regulatory      4168..4173
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMPD3"
                     /note="hexamer: AATAAA"
     polyA_site      4189
                     /gene="AMPD3"
ORIGIN      
        1 actctcctaa agggcagatg aagatcagag ctttgcaccc tgtgatgcca ttttaatcaa
       61 ccctgcttgg ttttagagga ttgctcctgt gggtcacttg aggcaggctc caccttcccc
      121 aggaggagtg gcagagtcca gccagcgctc ggagctggag gcccacgtgg gagcagtgag
      181 cggctctgag atgccgcggc agtttcccaa gctgaacatc tctgaagtgg atgagcaagt
      241 ccggctcctg gcggagaagg tgtttgctaa agtgctccga gaagaggaca gcaaagatgc
      301 cctgtccctg ttcactgtcc cagaggactg ccccatcggg caaaaggaag ccaaggagag
      361 ggagctgcag aaggagctgg cagagcagaa gtctgtggag accgcaaaaa gaaagaaaag
      421 tttcaagatg attcggtccc agtccctgtc tctgcaaatg ccgccacagc aagattggaa
      481 gggccccccg gcagccagtc cggccatgtc tcccacaacc cctgtggtca ctggagccac
      541 ttccctgccc acgccagcac cctatgccat gcctgagttc cagcgggtca ccatcagcgg
      601 agattactgt gccgggatca ctttggagga ctatgagcag gcagccaaga gtctggccaa
      661 ggccctaatg atccgggaga agtatgcgcg gctcgcctac caccgcttcc cgcggatcac
      721 atcccagtac ctgggtcatc cgcgggcgga tactgcacct ccggaagagg gccttccaga
      781 cttccaccct cctccactgc cccaggaaga cccctactgc ctggatgatg caccccccaa
      841 cctggattac ttggtccaca tgcagggggg catcctcttt gtgtatgata acaagaagat
      901 gctggagcac caggagccgc acagcctacc ctaccccgac ctggagacct acacggtgga
      961 catgagccac atcctggctc tcatcaccga tggccccacg aaaacctatt gtcaccggcg
     1021 actgaacttt ctggaatcca agttcagcct tcatgagatg ttaaacgaaa tgtccgagtt
     1081 caaagagttg aagagtaacc cccaccggga cttctataac gtgagaaagg tggacacaca
     1141 catccatgcg gccgcctgca tgaaccaaaa gcatctgctg cgcttcatca agcacacata
     1201 ccagacggag cctgacagga ctgtggcaga gaagcggggc cggaagatca ccctgcggca
     1261 ggtgtttgac ggcctgcaca tggaccccta cgacctcact gtggactcac tggatgtcca
     1321 cgcgggccgg cagacattcc accgctttga caagttcaac tccaaataca accctgtggg
     1381 ggccagtgag ctgcgtgacc tgtatttgaa aactgaaaac tatctgggag gagagtactt
     1441 tgctcggatg gtcaaggagg ttgcccggga gctggaggag agcaagtacc agtactcaga
     1501 gccacggctc tccatctacg gccgcagtcc tgaggagtgg cccaacctgg cctactggtt
     1561 catccagcac aaggtctact ctcccaacat gcgctggatc atccaggtgc cccggattta
     1621 tgacatattt aggtcaaaga agctgctgcc aaactttggg aagatgctgg agaacatctt
     1681 cctgcccctt ttcaaggcca ctatcaaccc ccaagatcat cgagagcttc acctcttcct
     1741 taaatatgtg acggggtttg acagcgtgga tgatgagtcc aagcacagcg accacatgtt
     1801 ttccgacaag agcccaaacc cggacgtctg gaccagtgag cagaacccac cctacagcta
     1861 ctacctgtac tacatgtatg ccaacatcat ggtgctcaac aacctccgca gggagcgcgg
     1921 cctgagcacg ttcctgttcc ggccgcactg tggggaagcc ggctccatca cccacctggt
     1981 gtctgccttc ctcactgctg acaacatttc ccacgggctg ctcctcaaga agagtccggt
     2041 attgcagtat ctctactacc ttgctcagat ccccattgcc atgtctcctc ttagcaacaa
     2101 cagtttgttc ctcgaatatt ccaagaaccc tctgagggaa ttcctacaca agggactgca
     2161 tgtttctctt tccaccgatg accccatgca gttccactac acgaaggaag cacttatgga
     2221 agaatatgcc attgcagctc aagtgtggaa gctgagcacc tgcgacctgt gtgagatcgc
     2281 caggaacagc gtgctgcaga gcggcctctc gcatcaggaa aagcaaaagt ttctgggaca
     2341 aaattattat aaagaaggac ctgaaggaaa tgatattcga aagacaaatg tggctcagat
     2401 ccggatggca ttccgatatg agaccttatg caatgagctc agcttcctgt ctgatgctat
     2461 gaaatcagaa gagatcaccg ccttgaccaa ctaggtccag catttgacat gcattttaac
     2521 tttttggttc aatttcaagt ctgctgtggc taatagtggt caagattccg aactaggact
     2581 ttcctctgtg aagaggatgc ctctgaagaa attttaaact ggtgattttg gttgcactgc
     2641 tcactttaag agttaacatg ctcacttgtt agtatttctg agtaacaaga tggtgacttc
     2701 tccttgggga tctgggagct gagcacttgt ctatacttgt tcctaatttt ccaagtattt
     2761 ctcttgaaac tgccagtgcc tgaactgttg gggccaggat tttccctggt cagatgccaa
     2821 gtaacatgtg gttttctgcc atacttttct ccattggccc aggtaggcta attggtagtt
     2881 gttcatttca gcctctggat ggctggctgc cttaaacaca atcaatttca aagctccatt
     2941 tcataaaggg gctactttga aggagttaag atggaagact tccttcttga caaattgtgt
     3001 ttttagtgaa tttcttaaac cgttttattt agccctcctt ccctctttct agttggaagc
     3061 caaatgtact catgaaaaca gccactccta ttctgagtct tggtttcttc acctagaaag
     3121 tgagggtttg gactagatga gtggctttca gggtgttctg tgaatctcct catgaatact
     3181 ttagggtagg ggagggaagg gagtgagtga tgctcagggg ctgtcaaagt gactgcgttc
     3241 atcagtttta cactggggct gctacataat attttcattt gaacgaagaa cttcaaaaag
     3301 cacaggacta gatgatctct gttccttttg gctctaatat gctacaactg taggccaatt
     3361 atcactttac caattaagag ttaggccaga taagtgaaat ttaacttaag ggcacacagc
     3421 taataagtaa taggcctaaa ctggatttcc ttattccaaa tcctgtcttt tccccactat
     3481 tccattagac cccacaaatg ttagttgtgt gtgtgtgtgt gtgtgttttt aatcactgta
     3541 accggatgca tttttttaag gcaaaatttc tcccttatct actatgatga cttcagaaga
     3601 tacaatggtc ccaggggcca agtagaaagc atttttaaag attaatctga attaagcttt
     3661 atcagtgtac tctttatctg tgttactagt gcctggtatg tagtaggtgc tcaataaatg
     3721 catattgaat aactaagtga atttcttttg gcaacttttt aaggacatgt gctcttagta
     3781 cttaagaggc tgctcaagga ccttcctatc tatttctgtg gtcaaattca gactacagga
     3841 ggtctttttg aatcattata gttagaagaa gaatccagtt tctgcctgtg aacttatttg
     3901 actttagatt gtctcatctt gtgactttat aatgcctgtc ccctccactg gtcaattcag
     3961 catatggaag tataaatgca gtctttttac taggcagata tatatgctat cttacagcta
     4021 attatgaaat tgaatgaaaa tccattgtta tcttagggat tagttttgaa aagcccccgt
     4081 ttatatacat ttgccctaac ataggaagta ttgtgtagtt tctcattgtc attttatctg
     4141 tatcaagtat ctttttttaa attgttaaat aaagtcagct aggactgtg
//
