LOCUS       NM_001242882            2515 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens NAD(P)HX dehydratase (NAXD), transcript variant 3,
            mRNA.
ACCESSION   NM_001242882
VERSION     NM_001242882.2
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 2515)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 2515)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2515)
  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   4  (bases 1 to 2515)
  AUTHORS   Van Bergen,N.J., Guo,Y., Rankin,J., Paczia,N., Becker-Kettern,J.,
            Kremer,L.S., Pyle,A., Conrotte,J.F., Ellaway,C., Procopis,P.,
            Prelog,K., Homfray,T., Baptista,J., Baple,E., Wakeling,M.,
            Massey,S., Kay,D.P., Shukla,A., Girisha,K.M., Lewis,L.E.S.,
            Santra,S., Power,R., Daubeney,P., Montoya,J., Ruiz-Pesini,E.,
            Kovacs-Nagy,R., Pritsch,M., Ahting,U., Thorburn,D.R., Prokisch,H.,
            Taylor,R.W., Christodoulou,J., Linster,C.L., Ellard,S. and
            Hakonarson,H.
  TITLE     NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative
            disorder exacerbated by febrile illnesses
  JOURNAL   Brain 142 (1), 50-58 (2019)
   PUBMED   30576410
  REMARK    GeneRIF: results show that NAXD deficiency can be classified as a
            metabolite repair disorder in which accumulation of damaged
            metabolites likely triggers devastating effects in tissues such as
            the brain and the heart, eventually leading to early childhood
            death.
REFERENCE   5  (bases 1 to 2515)
  AUTHORS   Marbaix,A.Y., Tyteca,D., Niehaus,T.D., Hanson,A.D., Linster,C.L.
            and Van Schaftingen,E.
  TITLE     Occurrence and subcellular distribution of the NADPHX repair system
            in mammals
  JOURNAL   Biochem J 460 (1), 49-58 (2014)
   PUBMED   24611804
  REMARK    GeneRIF: Wide tissue distribution of dehydratase and epimerase is
            consistent with mRNA data for Carkd and Aibp, and their presence in
            both mitochondria and cytosol is explained by the existence of
            differently targeted forms of CARKD and AIBP.
REFERENCE   6  (bases 1 to 2515)
  AUTHORS   Marbaix,A.Y., Noel,G., Detroux,A.M., Vertommen,D., Van
            Schaftingen,E. and Linster,C.L.
  TITLE     Extremely conserved ATP- or ADP-dependent enzymatic system for
            nicotinamide nucleotide repair
  JOURNAL   J Biol Chem 286 (48), 41246-41252 (2011)
   PUBMED   21994945
REFERENCE   7  (bases 1 to 2515)
  AUTHORS   Yu,H., Tardivo,L., Tam,S., Weiner,E., Gebreab,F., Fan,C.,
            Svrzikapa,N., Hirozane-Kishikawa,T., Rietman,E., Yang,X.,
            Sahalie,J., Salehi-Ashtiani,K., Hao,T., Cusick,M.E., Hill,D.E.,
            Roth,F.P., Braun,P. and Vidal,M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   8  (bases 1 to 2515)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL139385.12.
            
            On Jun 2, 2020 this sequence version replaced NM_001242882.1.
            
            Transcript Variant: This variant (3) differs in the 5' UTR and 5'
            coding region, uses an alternate start codon, and uses an alternate
            splice site that causes a frameshift in the 3' coding region,
            compared to variant 1. The encoded isoform (c) has distinct N- and
            C-termini and is shorter than isoform a.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853562.9163.1,
                                           SRR11853563.9352.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000680254.1/ ENSP00000505619.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-103               AL139385.12        129076-129178
            104-254             AL139385.12        135747-135897
            255-300             AL139385.12        137765-137810
            301-389             AL139385.12        138721-138809
            390-498             AL139385.12        140970-141078
            499-549             AL139385.12        148076-148126
            550-654             AL139385.12        148203-148307
            655-775             AL139385.12        148999-149119
            776-896             AL139385.12        150660-150780
            897-2515            AL139385.12        151909-153527
FEATURES             Location/Qualifiers
     source          1..2515
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q34"
     gene            1..2515
                     /gene="NAXD"
                     /gene_synonym="CARKD; LP3298; PEBEL2"
                     /note="NAD(P)HX dehydratase"
                     /db_xref="GeneID:55739"
                     /db_xref="HGNC:HGNC:25576"
                     /db_xref="MIM:615910"
     exon            1..103
                     /gene="NAXD"
                     /gene_synonym="CARKD; LP3298; PEBEL2"
                     /inference="alignment:Splign:2.1.0"
     CDS             58..1047
                     /gene="NAXD"
                     /gene_synonym="CARKD; LP3298; PEBEL2"
                     /EC_number="4.2.1.93"
                     /note="isoform c is encoded by transcript variant 3;
                     carbohydrate kinase domain-containing protein;
                     ATP-dependent NAD(P)HX dehydratase; ATP-dependent
                     (S)-NAD(P)H-hydrate dehydratase; ATP-dependent
                     NAD(P)H-hydrate dehydratase; carbohydrate kinase domain
                     containing"
                     /codon_start=1
                     /product="ATP-dependent (S)-NAD(P)H-hydrate dehydratase
                     isoform c"
                     /protein_id="NP_001229811.1"
                     /db_xref="CCDS:CCDS91835.1"
                     /db_xref="GeneID:55739"
                     /db_xref="HGNC:HGNC:25576"
                     /db_xref="MIM:615910"
                     /translation="MALGPRCGAIRACRRVLERAFSLRKAHSIKDMENTLQLVRNIIP
                     PLSSTKHKGQDGRIGVVGGCQEYTGAPYFAAISALKVGADLSHVFCASAAAPVIKAYS
                     PELIVHPVLDSPNAVHEVEKWLPRLHALVVGPGLGRDDALLRNVQGILEVSKARDIPV
                     VIDADGLWLVAQQPALIHGYRKAVLTPNHVEFSRLYDAVLRGPMDSDDSHGSVLRLSQ
                     ALGNVTVVQKGERDILSNGQQVLVCSQEGSSRRCGGQGDLLSGSLGVLVHWALLAGPQ
                     KTNGSSPLLVAAFGACSLTRQCNHQAFQKHGRSTTTSDMIAEVGAAFSKLFET"
     exon            104..254
                     /gene="NAXD"
                     /gene_synonym="CARKD; LP3298; PEBEL2"
                     /inference="alignment:Splign:2.1.0"
     exon            255..300
                     /gene="NAXD"
                     /gene_synonym="CARKD; LP3298; PEBEL2"
                     /inference="alignment:Splign:2.1.0"
     exon            301..389
                     /gene="NAXD"
                     /gene_synonym="CARKD; LP3298; PEBEL2"
                     /inference="alignment:Splign:2.1.0"
     exon            390..498
                     /gene="NAXD"
                     /gene_synonym="CARKD; LP3298; PEBEL2"
                     /inference="alignment:Splign:2.1.0"
     exon            499..549
                     /gene="NAXD"
                     /gene_synonym="CARKD; LP3298; PEBEL2"
                     /inference="alignment:Splign:2.1.0"
     exon            550..654
                     /gene="NAXD"
                     /gene_synonym="CARKD; LP3298; PEBEL2"
                     /inference="alignment:Splign:2.1.0"
     exon            655..775
                     /gene="NAXD"
                     /gene_synonym="CARKD; LP3298; PEBEL2"
                     /inference="alignment:Splign:2.1.0"
     exon            776..896
                     /gene="NAXD"
                     /gene_synonym="CARKD; LP3298; PEBEL2"
                     /inference="alignment:Splign:2.1.0"
     exon            897..2515
                     /gene="NAXD"
                     /gene_synonym="CARKD; LP3298; PEBEL2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2488..2493
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAXD"
                     /gene_synonym="CARKD; LP3298; PEBEL2"
                     /note="hexamer: ATTAAA"
     polyA_site      2515
                     /gene="NAXD"
                     /gene_synonym="CARKD; LP3298; PEBEL2"
                     /note="major polyA site"
ORIGIN      
        1 aatggctgtg tttccggcga cggcgcgggg gcagctggga atccggaatg ctgcccgatg
       61 gccctgggtc ctcgctgtgg ggcaatccgg gcttgcagac gagttttaga aagagcgttt
      121 tcgctacgta aagcacattc gataaaggat atggaaaata ctttgcagct ggtgagaaat
      181 atcatacctc ctctgtcttc cacaaagcac aaagggcaag atggaagaat aggcgtagtt
      241 ggaggctgtc aggagtacac tggagcccca tattttgcag caatctcagc tctcaaagtg
      301 ggcgcagact tgtcccacgt gttctgtgcc agtgcggccg cacctgtgat taaggcctac
      361 agcccggagc tgatcgtcca cccagttctt gacagcccca atgctgttca tgaggtggag
      421 aagtggctgc cccggctgca tgctcttgtc gtaggacctg gcttgggtag agatgatgcg
      481 cttctcagaa atgtccaggg cattttggaa gtgtcaaagg ccagggacat ccctgttgtc
      541 atcgacgcgg atggcctgtg gctggtcgct cagcagccgg ccctcatcca tggctaccgg
      601 aaggctgtgc tcactcccaa ccacgtggag ttcagcagac tgtatgacgc tgtgctcaga
      661 ggccctatgg acagcgatga cagccatgga tctgtgctaa gactcagcca agccctgggc
      721 aacgtgacgg tggtccagaa aggagagcgc gacatcctct ccaacggcca gcaggtgctt
      781 gtgtgcagcc aggaaggcag cagccgcagg tgtggagggc aaggggacct cctgtcgggc
      841 tccctgggcg tcctggtaca ctgggcgctc cttgctggac cacagaaaac aaatgggtcc
      901 agccctctcc tggtggccgc gtttggcgcc tgctctctca ccaggcagtg caaccaccaa
      961 gccttccaga agcacggtcg ctccaccacc acctccgaca tgatcgccga ggtgggggcc
     1021 gccttcagca agctctttga aacctgagcc cgcgcagacc agaagtaaac aggcaccttg
     1081 gacgggggag agcgtgtgtg tgatgggaaa atccggaccc acgcgtgtgc tgaaggcgta
     1141 cggtgcttgc cagattttca acttgagcat aaattggttg ccattgagaa tttaagaatc
     1201 tggaatattg cagcttttgg ttaaacttaa tgcatggttg gagatgttat ggcgacacta
     1261 aacaaagtat tcctgaactt tccttagctc cttggtagta actgggaaga cagaaatgaa
     1321 gaaaatcaca tgagaatgaa gaattcttta gcagctcaac agagtttctc ggcctgctcc
     1381 cagatcggcg aagtttctac ttgttactct ctctgccggc gcccttcgtt cctcctctgc
     1441 ttcccttccc tagtctttcc tccggcaggg agctgggcag gggtccccgg gtgtctccct
     1501 gagtcccgac tgcactgact gggtccatca gagggctgct tcgttctcca gctcatcttc
     1561 ttttaaagtg gtgactagct tggtggtatc tggctgctgg tgtttggctt attgacatac
     1621 tccagggtaa tcaatgatga ctttgtttgg aaaccctttt ggaggcacca tgggaacaga
     1681 aggaaacatg agtgacgctg acccttgagt gtgtgggtgg ggagctctga gacgcctcct
     1741 gtcccacgct ctccggtgtc cgtgtctaca caggggtccc catgataccc accggcccca
     1801 gcagggcaga ccggaccggg gacgggcacg gtgaagggct gcagcctggg gtctgacgtg
     1861 gcccctagtg ctgtctcagg agaaggctct ggaggacttg aggcatgctg ggcctggtgc
     1921 agtgatggcg ctaaggagac ccggggaaag acagtatcgt ggtcacgtat gcttaggaag
     1981 cagcacagcc gtgtccttag ggatgttcgc gtccagtaaa gacactggta actgcggttt
     2041 cagccaacac tcttcatggc agtgtcgacc tcgggttagc ttctgttgtc tttgtggatg
     2101 gttttcctgg agcggcctga cgttgacgtg ttctctggtc ccatgtctta gcggggcatg
     2161 gtacggtttc gtgcctgacg cgtgcattag ggtgttctct tatactttca gtagcatctt
     2221 tccacagcaa gggccaaacc ctcctggttc ccttcagagt ctttttggcc tgatgatgac
     2281 tcttgagtga taccctgtga tgcagacatg ccccagatgg attctacttt ctttaaaact
     2341 agggactttc aagattaaaa aaaagattgt cactactaat ttgacgccta acttcagaag
     2401 cttcactgtc tacatgtgaa cttttccaga aaaactgtgc catggacatt tttcctctgg
     2461 ggaattaaca tctaaattct ggtaactatt aaaagacaga tctggttaat ttaaa
//
