LOCUS       NM_144772               1111 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens NAD(P)HX epimerase (NAXE), mRNA.
ACCESSION   NM_144772
VERSION     NM_144772.3
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 1111)
  AUTHORS   Jiang,Y., Li,X., Liu,Q., Lei,G., Wu,C., Chen,L., Zhao,Y., Hu,Y.,
            Xian,H. and Mao,R.
  TITLE     Apolipoprotein A-I Binding Protein Inhibits the Formation of
            Infantile Hemangioma through Cholesterol-Regulated
            Hypoxia-Inducible Factor 1alpha Activation
  JOURNAL   J Invest Dermatol 144 (3), 645-658 (2024)
   PUBMED   37832842
  REMARK    GeneRIF: Apolipoprotein A-I Binding Protein Inhibits the Formation
            of Infantile Hemangioma through Cholesterol-Regulated
            Hypoxia-Inducible Factor 1alpha Activation.
REFERENCE   2  (bases 1 to 1111)
  AUTHORS   Rao,S.S., Bhavani,G.S., Jalan,A.B. and Shenoy,R.D.
  TITLE     Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two
            Unrelated Indian Children
  JOURNAL   Indian J Pediatr 91 (2), 184-187 (2024)
   PUBMED   36773198
  REMARK    GeneRIF: Nuclear Mitochondrial Disorder Due to a Variant in NAXE in
            Two Unrelated Indian Children.
REFERENCE   3  (bases 1 to 1111)
  AUTHORS   Maalej,M., Sfaihi,L., Ammar,M., Frikha,F., Kharrat,M.,
            Alila-Fersi,O., Mkaouar-Rebai,E., Tlili,A., Kammoun,T. and
            Fakhfakh,F.
  TITLE     Identification of a novel homozygous mutation in NAXE gene
            associated with early-onset progressive encephalopathy by
            whole-exome sequencing: in silico protein structure
            characterization, molecular docking, and dynamic simulation
  JOURNAL   Neurogenetics 23 (4), 257-270 (2022)
   PUBMED   35819538
  REMARK    GeneRIF: Identification of a novel homozygous mutation in NAXE gene
            associated with early-onset progressive encephalopathy by
            whole-exome sequencing: in silico protein structure
            characterization, molecular docking, and dynamic simulation.
REFERENCE   4  (bases 1 to 1111)
  AUTHORS   Mohammadi,P., Heidari,M., Ashrafi,M.R., Mahdieh,N. and Garshasbi,M.
  TITLE     A novel homozygous missense variant in the NAXE gene in an Iranian
            family with progressive encephalopathy with brain edema and
            leukoencephalopathy
  JOURNAL   Acta Neurol Belg 122 (5), 1201-1210 (2022)
   PUBMED   34120322
  REMARK    GeneRIF: A novel homozygous missense variant in the NAXE gene in an
            Iranian family with progressive encephalopathy with brain edema and
            leukoencephalopathy.
REFERENCE   5  (bases 1 to 1111)
  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   6  (bases 1 to 1111)
  AUTHORS   Peloso,G.M., Demissie,S., Collins,D., Mirel,D.B., Gabriel,S.B.,
            Cupples,L.A., Robins,S.J., Schaefer,E.J. and Brousseau,M.E.
  TITLE     Common genetic variation in multiple metabolic pathways influences
            susceptibility to low HDL-cholesterol and coronary heart disease
  JOURNAL   J Lipid Res 51 (12), 3524-3532 (2010)
   PUBMED   20855565
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 1111)
  AUTHORS   Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J.,
            Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S.,
            Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C.
  TITLE     Maternal genes and facial clefts in offspring: a comprehensive
            search for genetic associations in two population-based cleft
            studies from Scandinavia
  JOURNAL   PLoS One 5 (7), e11493 (2010)
   PUBMED   20634891
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1111)
  AUTHORS   Matsuura,F., Oku,H., Koseki,M., Sandoval,J.C., Yuasa-Kawase,M.,
            Tsubakio-Yamamoto,K., Masuda,D., Maeda,N., Tsujii,K., Ishigami,M.,
            Nishida,M., Hirano,K., Kihara,S., Hori,M., Shimomura,I. and
            Yamashita,S.
  TITLE     Adiponectin accelerates reverse cholesterol transport by increasing
            high density lipoprotein assembly in the liver
  JOURNAL   Biochem Biophys Res Commun 358 (4), 1091-1095 (2007)
   PUBMED   17521614
  REMARK    GeneRIF: Taken together, the current study demonstrates that APN
            might protect against atherosclerosis by increasing HDL assembly
            through enhancing ABCA1 pathway and apoA-1 synthesis in the liver.
REFERENCE   9  (bases 1 to 1111)
  AUTHORS   Rudolph,C., Sigruener,A., Hartmann,A., Orso,E., Bals-Pratsch,M.,
            Gronwald,W., Seifert,B., Kalbitzer,H.R., Verdorfer,I.,
            Luetjens,C.M., Ortmann,O., Bornstein,S.R. and Schmitz,G.
  TITLE     ApoA-I-binding protein (AI-BP) and its homologues hYjeF_N2 and
            hYjeF_N3 comprise the YjeF_N domain protein family in humans with a
            role in spermiogenesis and oogenesis
  JOURNAL   Horm Metab Res 39 (5), 322-335 (2007)
   PUBMED   17533573
REFERENCE   10 (bases 1 to 1111)
  AUTHORS   Ritter,M., Buechler,C., Boettcher,A., Barlage,S., Schmitz-Madry,A.,
            Orso,E., Bared,S.M., Schmiedeknecht,G., Baehr,C.H., Fricker,G. and
            Schmitz,G.
  TITLE     Cloning and characterization of a novel apolipoprotein A-I binding
            protein, AI-BP, secreted by cells of the kidney proximal tubules in
            response to HDL or ApoA-I
  JOURNAL   Genomics 79 (5), 693-702 (2002)
   PUBMED   11991719
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ430064.1, BC100933.1,
            BG723681.1 and AL365181.24.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_144772.2.
            
            Summary: The product of this gene interacts with apolipoprotein A-I
            (apoA-I), the major apolipoprotein of high-density lipoproteins
            (HDLs). It is secreted into some bodily fluids, and its synthesis
            and secretion are stimulated in vitro by incubating cells with
            apoA-I. The human genome contains related pseudogenes. [provided by
            RefSeq, Jul 2008].
            
            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 :: SRR1163658.179824.1,
                                           SRR1803615.231201.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368235.8/ ENSP00000357218.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 BQ430064.1         44-45
            3-83                BC100933.1         1-81
            84-84               BG723681.1         94-94
            85-745              BC100933.1         83-743
            746-1111            AL365181.24        105071-105436
FEATURES             Location/Qualifiers
     source          1..1111
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     gene            1..1111
                     /gene="NAXE"
                     /gene_synonym="AIBP; APOA1BP; PEBEL; YJEFN1"
                     /note="NAD(P)HX epimerase"
                     /db_xref="GeneID:128240"
                     /db_xref="HGNC:HGNC:18453"
                     /db_xref="MIM:608862"
     exon            1..211
                     /gene="NAXE"
                     /gene_synonym="AIBP; APOA1BP; PEBEL; YJEFN1"
                     /inference="alignment:Splign:2.1.0"
     CDS             30..896
                     /gene="NAXE"
                     /gene_synonym="AIBP; APOA1BP; PEBEL; YJEFN1"
                     /EC_number="5.1.99.6"
                     /note="apoA-I binding protein; apolipoprotein A-I-binding
                     protein; AI-BP; yjeF_N1; yjeF N-terminal domain-containing
                     protein 1; NAD(P)H-hydrate epimerase"
                     /codon_start=1
                     /product="NAD(P)H-hydrate epimerase precursor"
                     /protein_id="NP_658985.2"
                     /db_xref="CCDS:CCDS1145.1"
                     /db_xref="GeneID:128240"
                     /db_xref="HGNC:HGNC:18453"
                     /db_xref="MIM:608862"
                     /translation="MSRLRALLGLGLLVAGSRVPRIKSQTIACRSGPTWWGPQRLNSG
                     GRWDSEVMASTVVKYLSQEEAQAVDQELFNEYQFSVDQLMELAGLSCATAIAKAYPPT
                     SMSRSPPTVLVICGPGNNGGDGLVCARHLKLFGYEPTIYYPKRPNKPLFTALVTQCQK
                     MDIPFLGEMPAEPMTIDELYELVVDAIFGFSFKGDVREPFHSILSVLKGLTVPIASID
                     IPSGWDVEKGNAGGIQPDLLISLTAPKKSATQFTGRYHYLGGRFVPPALEKKYQLNLP
                     PYPDTECVYRLQ"
     exon            212..320
                     /gene="NAXE"
                     /gene_synonym="AIBP; APOA1BP; PEBEL; YJEFN1"
                     /inference="alignment:Splign:2.1.0"
     exon            321..431
                     /gene="NAXE"
                     /gene_synonym="AIBP; APOA1BP; PEBEL; YJEFN1"
                     /inference="alignment:Splign:2.1.0"
     exon            432..545
                     /gene="NAXE"
                     /gene_synonym="AIBP; APOA1BP; PEBEL; YJEFN1"
                     /inference="alignment:Splign:2.1.0"
     exon            546..693
                     /gene="NAXE"
                     /gene_synonym="AIBP; APOA1BP; PEBEL; YJEFN1"
                     /inference="alignment:Splign:2.1.0"
     exon            694..1111
                     /gene="NAXE"
                     /gene_synonym="AIBP; APOA1BP; PEBEL; YJEFN1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      922..927
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAXE"
                     /gene_synonym="AIBP; APOA1BP; PEBEL; YJEFN1"
                     /note="hexamer: AATAAA"
     polyA_site      949
                     /gene="NAXE"
                     /gene_synonym="AIBP; APOA1BP; PEBEL; YJEFN1"
                     /note="major polyA site"
     regulatory      1086..1091
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAXE"
                     /gene_synonym="AIBP; APOA1BP; PEBEL; YJEFN1"
                     /note="hexamer: AATGAA"
     polyA_site      1111
                     /gene="NAXE"
                     /gene_synonym="AIBP; APOA1BP; PEBEL; YJEFN1"
                     /note="major polyA site"
ORIGIN      
        1 gggccggggg cgcgcgctct gcgagctgga tgtccaggct gcgggcgctg ctgggcctcg
       61 ggctgctggt tgcgggctcg cgcgtgccgc ggatcaaaag ccagaccatc gcctgtcgct
      121 cgggacccac ctggtgggga ccgcagcggc tgaactcggg tggccgctgg gactcagagg
      181 tcatggcgag cacggtggtg aagtacctga gccaggagga ggcccaggcc gtggaccagg
      241 agctatttaa cgaataccag ttcagcgtgg accaacttat ggaactggcc gggctgagct
      301 gtgctacagc catcgccaag gcatatcccc ccacgtccat gtccaggagc ccccctactg
      361 tcctggtcat ctgtggcccg gggaataatg gaggagatgg tctggtctgt gctcgacacc
      421 tcaaactctt tggctacgag ccaaccatct attaccccaa aaggcctaac aagcccctct
      481 tcactgcatt ggtgacccag tgtcagaaaa tggacatccc tttccttggg gaaatgcccg
      541 cagagcccat gacgattgat gaactgtatg agctggtggt ggatgccatc tttggcttca
      601 gcttcaaggg cgatgttcgg gaaccgttcc acagcatcct gagtgtcctg aagggactca
      661 ctgtgcccat tgccagcatc gacattccct caggatggga cgtggagaag ggaaatgctg
      721 gagggatcca gccagacttg ctcatatccc tcacagcccc caaaaaatct gcaacccagt
      781 ttaccggtcg ctaccattac ctggggggtc gttttgtgcc acctgctctg gagaagaagt
      841 accagctgaa cctgccaccc taccctgaca ccgagtgtgt ctatcgtctg cagtgaggga
      901 aggtgggtgg gtattcttcc caataaagac ttagagcccc tctcttccag aactgtggat
      961 tcctgggagc tcctctggca ataaaagtca gtgaatggtg gaagtcagag accaaccctg
     1021 gggattgggt gccatctctc taggggtaac acaaagggca agaggttgct atggtatttg
     1081 gaaacaatga aaatggactg ttagatgcca a
//
