LOCUS       NM_170706               5448 bp    mRNA    linear   PRI 10-JUN-2024
DEFINITION  Homo sapiens nicotinamide nucleotide adenylyltransferase 2
            (NMNAT2), transcript variant 2, mRNA.
ACCESSION   NM_170706
VERSION     NM_170706.4
KEYWORDS    RefSeq.
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 5448)
  AUTHORS   Chen,H., Zhang,X., Liao,N., Ji,Y., Mi,L., Gan,Y., Su,Y. and Wen,F.
  TITLE     Downregulation of SIRT6 and NMNAT2 is associated with proliferative
            diabetic retinopathy
  JOURNAL   Mol Vis 29, 160-168 (2023)
   PUBMED   38222451
  REMARK    GeneRIF: Downregulation of SIRT6 and NMNAT2 is associated with
            proliferative diabetic retinopathy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5448)
  AUTHORS   Challa,S., Khulpateea,B.R., Nandu,T., Camacho,C.V., Ryu,K.W.,
            Chen,H., Peng,Y., Lea,J.S. and Kraus,W.L.
  TITLE     Ribosome ADP-ribosylation inhibits translation and maintains
            proteostasis in cancers
  JOURNAL   Cell 184 (17), 4531-4546 (2021)
   PUBMED   34314702
REFERENCE   3  (bases 1 to 5448)
  AUTHORS   Lukacs,M., Gilley,J., Zhu,Y., Orsomando,G., Angeletti,C., Liu,J.,
            Yang,X., Park,J., Hopkin,R.J., Coleman,M.P., Zhai,R.G. and
            Stottmann,R.W.
  TITLE     Severe biallelic loss-of-function mutations in nicotinamide
            mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with
            fetal akinesia deformation sequence
  JOURNAL   Exp Neurol 320, 112961 (2019)
   PUBMED   31136762
  REMARK    GeneRIF: we present the first human variants in NMNAT2 identified
            in two fetuses with severe skeletal muscle hypoplasia and fetal
            akinesia. Functional studies in vitro showed that the mutations
            impair both NMNAT2 NAD(+) synthase and chaperone functions. This
            work identifies the critical role of NMNAT2 in human development.
REFERENCE   4  (bases 1 to 5448)
  AUTHORS   Huppke,P., Wegener,E., Gilley,J., Angeletti,C., Kurth,I.,
            Drenth,J.P.H., Stadelmann,C., Barrantes-Freer,A., Bruck,W.,
            Thiele,H., Nurnberg,P., Gartner,J., Orsomando,G. and Coleman,M.P.
  TITLE     Homozygous NMNAT2 mutation in sisters with polyneuropathy and
            erythromelalgia
  JOURNAL   Exp Neurol 320, 112958 (2019)
   PUBMED   31132363
  REMARK    GeneRIF: We identified a homozygous missense mutation in the gene
            encoding NAD synthesizing enzyme NMNAT2 in two siblings with
            childhood onset polyneuropathy with erythromelalgia
REFERENCE   5  (bases 1 to 5448)
  AUTHORS   Gilley,J., Mayer,P.R., Yu,G. and Coleman,M.P.
  TITLE     Low levels of NMNAT2 compromise axon development and survival
  JOURNAL   Hum Mol Genet 28 (3), 448-458 (2019)
   PUBMED   30304512
REFERENCE   6  (bases 1 to 5448)
  AUTHORS   Yalowitz,J.A., Xiao,S., Biju,M.P., Antony,A.C., Cummings,O.W.,
            Deeg,M.A. and Jayaram,H.N.
  TITLE     Characterization of human brain nicotinamide 5'-mononucleotide
            adenylyltransferase-2 and expression in human pancreas
  JOURNAL   Biochem J 377 (Pt 2), 317-326 (2004)
   PUBMED   14516279
  REMARK    GeneRIF: Nicotinamide 5'-mononucleotide adenylyltransferase-2 is
            markedly expressed in the islets of Langerhans.
REFERENCE   7  (bases 1 to 5448)
  AUTHORS   Magni,G., Amici,A., Emanuelli,M., Orsomando,G., Raffaelli,N. and
            Ruggieri,S.
  TITLE     Enzymology of NAD+ homeostasis in man
  JOURNAL   Cell Mol Life Sci 61 (1), 19-34 (2004)
   PUBMED   14704851
  REMARK    Review article
REFERENCE   8  (bases 1 to 5448)
  AUTHORS   Raffaelli,N., Sorci,L., Amici,A., Emanuelli,M., Mazzola,F. and
            Magni,G.
  TITLE     Identification of a novel human nicotinamide mononucleotide
            adenylyltransferase
  JOURNAL   Biochem Biophys Res Commun 297 (4), 835-840 (2002)
   PUBMED   12359228
  REMARK    GeneRIF: cloning, isolation and kinetics
REFERENCE   9  (bases 1 to 5448)
  AUTHORS   Sood,R., Bonner,T.I., Makalowska,I., Stephan,D.A., Robbins,C.M.,
            Connors,T.D., Morgenbesser,S.D., Su,K., Faruque,M.U., Pinkett,H.,
            Graham,C., Baxevanis,A.D., Klinger,K.W., Landes,G.M., Trent,J.M.
            and Carpten,J.D.
  TITLE     Cloning and characterization of 13 novel transcripts and the human
            RGS8 gene from the 1q25 region encompassing the hereditary prostate
            cancer (HPC1) locus
  JOURNAL   Genomics 73 (2), 211-222 (2001)
   PUBMED   11318611
REFERENCE   10 (bases 1 to 5448)
  AUTHORS   Robertson,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R.
            and Morton,C.C.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC020998.2, AL354953.16 and
            BI493003.1.
            
            On Aug 13, 2020 this sequence version replaced NM_170706.3.
            
            Summary: This gene product belongs to the nicotinamide
            mononucleotide adenylyltransferase (NMNAT) enzyme family, members
            of which catalyze an essential step in NAD (NADP) biosynthetic
            pathway. Unlike the other human family member, which is localized
            to the nucleus, and is ubiquitously expressed; this enzyme is
            cytoplasmic, and is predominantly expressed in the brain. Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (2)
            has a shorter and distinct N-terminus compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on 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 :: BC020998.2 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2174              BC020998.2         1-2174
            2175-5414           AL354953.16        154293-157532       c
            5415-5448           BI493003.1         20-53               c
FEATURES             Location/Qualifiers
     source          1..5448
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.3"
     gene            1..5448
                     /gene="NMNAT2"
                     /gene_synonym="C1orf15; PNAT2"
                     /note="nicotinamide nucleotide adenylyltransferase 2"
                     /db_xref="GeneID:23057"
                     /db_xref="HGNC:HGNC:16789"
                     /db_xref="MIM:608701"
     exon            1..205
                     /gene="NMNAT2"
                     /gene_synonym="C1orf15; PNAT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             136..1044
                     /gene="NMNAT2"
                     /gene_synonym="C1orf15; PNAT2"
                     /EC_number="2.7.7.1"
                     /EC_number="2.7.7.18"
                     /note="isoform 2 is encoded by transcript variant 2;
                     pyridine nucleotide adenylyltransferase 2; NaMN
                     adenylyltransferase 2; NMN adenylyltransferase 2;
                     nicotinamide mononucleotide adenylyltransferase 2;
                     nicotinate-nucleotide adenylyltransferase 2; NMN/NaMN
                     adenylyltransferase 2; nicotinamide/nicotinic acid
                     mononucleotide adenylyltransferase 2"
                     /codon_start=1
                     /product="nicotinamide/nicotinic acid mononucleotide
                     adenylyltransferase 2 isoform 2"
                     /protein_id="NP_733820.1"
                     /db_xref="CCDS:CCDS1354.1"
                     /db_xref="GeneID:23057"
                     /db_xref="HGNC:HGNC:16789"
                     /db_xref="MIM:608701"
                     /translation="MEIQELEEIQACQGLWEVFVTLSERARDYLHKTGRFIVIGGIVS
                     PVHDSYGKQGLVSSRHRLIMCQLAVQNSDWIRVDPWECYQDTWQTTCSVLEHHRDLMK
                     RVTGCILSNVNTPSMTPVIGQPQNETPQPIYQNSNVATKPTAAKILGKVGESLSRICC
                     VRPPVERFTFVDENANLGTVMRYEEIELRILLLCGSDLLESFCIPGLWNEADMEVIVG
                     DFGIVVVPRDAADTDRIMNHSSILRKYKNNIMVVKDDINHPMSVVSSTKSRLALQHGD
                     GHVVDYLSQPVIDYILKSQLYINASG"
     exon            206..294
                     /gene="NMNAT2"
                     /gene_synonym="C1orf15; PNAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            295..362
                     /gene="NMNAT2"
                     /gene_synonym="C1orf15; PNAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            363..441
                     /gene="NMNAT2"
                     /gene_synonym="C1orf15; PNAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            442..568
                     /gene="NMNAT2"
                     /gene_synonym="C1orf15; PNAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            569..649
                     /gene="NMNAT2"
                     /gene_synonym="C1orf15; PNAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            650..694
                     /gene="NMNAT2"
                     /gene_synonym="C1orf15; PNAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            695..771
                     /gene="NMNAT2"
                     /gene_synonym="C1orf15; PNAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            772..873
                     /gene="NMNAT2"
                     /gene_synonym="C1orf15; PNAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            874..941
                     /gene="NMNAT2"
                     /gene_synonym="C1orf15; PNAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            942..5448
                     /gene="NMNAT2"
                     /gene_synonym="C1orf15; PNAT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5310..5315
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NMNAT2"
                     /gene_synonym="C1orf15; PNAT2"
                     /note="hexamer: AATAAA"
     polyA_site      5335
                     /gene="NMNAT2"
                     /gene_synonym="C1orf15; PNAT2"
                     /note="major polyA site"
     regulatory      5425..5430
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NMNAT2"
                     /gene_synonym="C1orf15; PNAT2"
                     /note="hexamer: AATAAA"
     regulatory      5429..5434
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NMNAT2"
                     /gene_synonym="C1orf15; PNAT2"
                     /note="hexamer: AATAAG"
     polyA_site      5443
                     /gene="NMNAT2"
                     /gene_synonym="C1orf15; PNAT2"
     polyA_site      5448
                     /gene="NMNAT2"
                     /gene_synonym="C1orf15; PNAT2"
                     /note="major polyA site"
ORIGIN      
        1 ttcaaattct cccaagctgg aggtagtgga gcaaacaaga tcagcaacaa tgagggagca
       61 gctgcaccac tttgtgttac tctctgatgg ccagcacagg gctgcaagta gtggctgcaa
      121 aaaccagaca aatagatgga aatccaggaa ctagaggaaa ttcaggcctg ccaggggctc
      181 tgggaagtgt ttgttactct ctcagaaaga gccagggatt atctgcacaa aactggaagg
      241 tttattgtga ttggcgggat tgtctcccct gtccacgact cctatggaaa acagggcctc
      301 gtgtcaagcc ggcaccgtct catcatgtgt cagctggccg tccagaattc tgattggatc
      361 agggtggacc cttgggagtg ctaccaggac acctggcaga cgacctgcag cgtgttggaa
      421 caccaccggg acctcatgaa gagggtgact ggctgcatcc tctccaatgt caacacacct
      481 tccatgacac ctgtgatcgg acagccacaa aacgagaccc cccagcccat ttaccagaac
      541 agcaacgtgg ccaccaagcc cactgcagcc aagatcttgg ggaaggtggg agaaagcctc
      601 agccggatct gctgtgtccg cccgccggtg gagcgtttca cctttgtaga tgagaatgcc
      661 aatctgggca cggtgatgcg gtatgaagag attgagctac ggatcctgct gctgtgtggt
      721 agtgacctgc tggagtcctt ctgcatccca gggctctgga acgaggcaga tatggaggtg
      781 attgttggtg actttgggat tgtggtggtg ccccgggatg cagccgacac agaccgaatc
      841 atgaatcact cctcaatact ccgcaaatac aaaaacaaca tcatggtggt gaaggatgac
      901 atcaaccatc ccatgtctgt tgtcagctca accaagagca ggctggccct gcagcatggg
      961 gacggccatg ttgtggatta cctgtcccag ccggtcatcg actacatcct caaaagccag
     1021 ctgtacatca atgcctccgg ctagcagccc ctcgtcctcc ggcaacacaa tggcccctcc
     1081 atctttgtca gccccctgtt tctctcctgc ctctctgttt ctccatctcc tcgtcttgac
     1141 tgttttccct acttgctgac ttaacccccc atagtgtggg ggacctgcag agaaccatgg
     1201 cattccctat tccacagtca tctttggaca gactttcctc tagtctccgg gttgggggtg
     1261 ggtgagggaa tggggtggga gtcgggggaa gtgcagtcct tggagatgta ctggtgtccg
     1321 tctcccagca tgctctagag aggcggctct ggtgcccatc ctcccagcac gctctgggga
     1381 ggcggctctg gtgcccatcc tcccagcatg ctctagagag gcggctctgg tgcccctcct
     1441 cccagcatgc tctggggagg cggctctggc tcttgccttc ccagcatgcc ctttactaca
     1501 aagggctatt tttcttttct ttcttttgtt tatttatttt tctttgttca ctccctgtag
     1561 aacttggatg aaatcagtgt ccatggttct ttatgtttgt agtcttgatg tgctcctgtg
     1621 gtattacttc ccctctgata ggacattgta gccagcctca gcactcagtg agttcatcag
     1681 ggccacaccc agtagagaag gccaagcaac ctccacttct tcagcaccac acacacgcac
     1741 acacacacac acgcacacat gcgtgtgcac ccgcgcacgc acatacacac acacatatag
     1801 cagtagcagc agcagcagca gcagcagcaa cctttgatca ggagtgagat tttcgggttc
     1861 tgaaacctgg gacacgagtc tgtgaatagt cggttttctc agaataattt gaatctgttt
     1921 tcttagtttc aaatgaccat ttccctgatg ctctgagctt atgatcacac agagccagtc
     1981 catcctcatt tcctggtggc atctgttcat ttacctttgt ggactgtagc tgatggcaca
     2041 gtgcgggttc cctaccagcc aggggtttcc aagggacctt tggaggccat gcttagacac
     2101 attcctgtac ctgagaacaa ccacataggc aggaccagat ccacatcgtg cagtcgtgtc
     2161 ataaaaaaac aaaacaaaac aaaaaaacac taggagtcca ctcaaccctg gaggtctttg
     2221 ctaattggaa ttatgtattg tctgttgggc tgggaaatgt ctctttcata ttgtaagtcc
     2281 aggatgaact aggagaaagc aatttgttgc cctgatgata actgatgatt ttcaccctct
     2341 ctagctgagg taactcagac agtgcatgag gtcagtttct tcttgagaag cagtgccttg
     2401 gtcttgtttc tgtggttggt tctagcccct gcagagcctg ggagctgcag gaactgtctg
     2461 agaaaatctc cctaataggg gagtgggttc ccagaaggga gatctgggag gggtcaggag
     2521 ccactaagtt gcttcactcc ttttttctct aattttctac cttcctctct gttcctgcag
     2581 acagttttgc cagctttgct tctggttact agggtctcat gcgtgtcctg cttggagagc
     2641 cataaggaaa ttgctgtctt gtgctttgtg tctctcatcc agtctctggc tcttgggatt
     2701 ctggtctttg agaaatagtc cctgagtatt aggatacttt tatcaaaatc tagtaccagc
     2761 tacggccaga aagggccagg tgggacctga aagcaaagac aatgttcttt accacacgtt
     2821 tcacatctgc aacatccttc aattgcggga aaaggaactt gatttaacag aagaacatgg
     2881 tagagcagca tccagaaagt ctgttattcc tcttggattt tttgaaataa tcttcagagg
     2941 aaggaaggaa aatcctattt tggggtatca gtgtttgact agggatcatg aaataataaa
     3001 ctgaaaaaaa ctttagagtt cagttgatcc aacactttcc tttaaaagtt gagggagcag
     3061 aggcccatgg gattaaatgg ctggtccagg tcagccagca ggtgtagggc ctgacaagaa
     3121 catattgttt ccctgacccc taggccgtca caccacaccc tccatttcct catgttgctg
     3181 accaggtgcc catatgattt ctacacttcc caagccttac cctggcatct ttcttttaaa
     3241 ttatatctgt cccaggtgct ctccacacat aggatggtaa tgccagtccc aggggagggt
     3301 gtgatagtaa ggaaggccac tgttaggttt cctttagaaa taaagagatc tcagcagctt
     3361 ggaagaaatc ccagaagcgg actccatcaa tccaagaaag agttgctttg tggaaggtga
     3421 aggaagaccc acagagtgct caggatgatg ctattgctgg agagcgaaag atggaacagc
     3481 cttgtccagg cagaacagtc ataagccagg aaatgaaaca aaggaaaaca ggtgcctgaa
     3541 tttcctgggg aaacatggct tgtttaagga cttggagtta tggatggaat ttatgggacc
     3601 cacgtgagca gacctgagga aggctcgatt tcttttgttt cttggtccac tctgtcactc
     3661 tgctctggtc aagccccatt tggtctacag cccatgagaa ggaatgaggc tggttctgca
     3721 ctctcagcat gcagtccgaa agcatgtggg agtggggagg gaaagtgaga tgaattaaga
     3781 caaagaacag gtgccataga agtagatttc taggaatgaa gtggggcaga tcttatcttt
     3841 gtggattaca ggcactgtac taaaaacagg tttcctattt aatataaaaa gaaagtgaat
     3901 cttcttttgg atagaatcat ccattcccat cgccgcaccc cctacccccc aaacacacac
     3961 acacacacac acacacacac acacacacac acacacacac acgccctact cttcatttgc
     4021 taggggaagg tcacagcaca actaaatcca ggacaggaca ttgtgaccat gacccagcca
     4081 cagtcaatac cagaaagatg attcagagtc tgaagtggtg ccccaggtgc caacaggata
     4141 acctctaccc cccgactttg tctctggggt cctgttcctt cctgcaaagc ccaatccaag
     4201 actggcatgg ctcagaggtt gtgagaaagg catggactgg aacaatcatg tccagagggg
     4261 tctggagctt tgtttcctgt tcaccagcaa aaaatgtctc tcccattttt ctgaaagtgg
     4321 ctgatgtaag aacaggcaga aggaaaaccc tttttgtcaa taactctgtc cttaaggaat
     4381 ggtcctctgg gagggctgtg ctgctagtgg gtacctcagt cacacacccc caaccccagg
     4441 cagcctctag agccttcttg ctttcatttt ccttgaatgt acataggaac aagggggaaa
     4501 gtctcttact gaagtgcctg aaacccaaag ctagagcttc tagagacgcc gttcttcctg
     4561 tctcagcttg gccagccttt caacaatgtt ctctagtttc aagctccagc ttctcagaaa
     4621 gaattaaaga acttgctgtt caaattaagt agaaagtgag actcaataat aactgaacta
     4681 cagcaaaagg cagagaatta cagggagaaa aaacttgtac ttaccagccc aattctactc
     4741 tcctcaaact gacacacaca cacacacaca cacacacaca cacacacaca cactctttta
     4801 ggggactaag agagagaagc atgttattac attttactca tccaaacagt aatgcaaaaa
     4861 taaaacggta gaatatgaaa agctcaggat ctctcccaag gctacctact gcaggagggc
     4921 caacaggtga gatgggaaga atggaaacag ggaccgattt tgtagctcat acaattagga
     4981 caccttagga atagcattgt agtaatggtg atgaatatgc tctgccaaat tcatccagtc
     5041 tgcaccatct tatagctgcc cagcacactc gactgttcat gtggtctctt tgtagtgtga
     5101 gtttggagtg tcctattagc ctgttctggt taggaatgag ttaacggctc tttccctcaa
     5161 ccttagtcta gtcccagggc tgaggattca gctggatcca catggtcttg agggttggca
     5221 tgaggagggg gaagcttttt tgaatcgctt tttgatcaca taatctgcca ttttaagagt
     5281 aagatttgct ttatggaaat caattcatta ataaaaaatg atattcaagt tgcaatacca
     5341 tttcacagtg aaatattttg agtacaattt tgttgctaga atagtcatgg gcaagagttt
     5401 tatgcaaaat gtttcaatta tgttaataaa taagacaatg ctacaaga
//
