LOCUS       NM_016616               2308 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens NME/NM23 family member 8 (NME8), mRNA.
ACCESSION   NM_016616 XM_005249764
VERSION     NM_016616.5
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 2308)
  AUTHORS   Chan,M.C., Savela,J., Ollikainen,R.K., Teppo,H.R., Miinalainen,I.,
            Pirinen,R., Kari,E.J.M., Kuitunen,H., Turpeenniemi-Hujanen,T.,
            Kuittinen,O. and Kuusisto,M.E.L.
  TITLE     Testis-Specific Thioredoxins TXNDC2, TXNDC3, and TXNDC6 Are
            Expressed in Both Testicular and Systemic DLBCL and Correlate with
            Clinical Disease Presentation
  JOURNAL   Oxid Med Cell Longev 2021, 8026941 (2021)
   PUBMED   33603952
  REMARK    GeneRIF: Testis-Specific Thioredoxins TXNDC2, TXNDC3, and TXNDC6
            Are Expressed in Both Testicular and Systemic DLBCL and Correlate
            with Clinical Disease Presentation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2308)
  AUTHORS   Bressler,J., Mosley,T.H., Penman,A., Gottesman,R.F., Windham,B.G.,
            Knopman,D.S., Wruck,L.M. and Boerwinkle,E.
  TITLE     Genetic variants associated with risk of Alzheimer's disease
            contribute to cognitive change in midlife: The Atherosclerosis Risk
            in Communities Study
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 174 (3), 269-282 (2017)
   PUBMED   27781389
  REMARK    GeneRIF: Addition of the minor allele for rs670139 (MS4A4E),
            rs9331896 (CLU), and rs12155159 (NME8) was nominally associated
            with change on the DWRT, DSST, and WFT, respectively, in whites.
REFERENCE   3  (bases 1 to 2308)
  AUTHORS   Liu,S.L., Wang,X.C., Tan,M.S., Wang,H.F., Zhang,W., Wang,Z.X.,
            Yu,J.T. and Tan,L.
  TITLE     NME8 rs2718058 polymorphism with Alzheimer's disease risk: a
            replication and meta-analysis
  JOURNAL   Oncotarget 7 (24), 36014-36020 (2016)
   PUBMED   27144521
  REMARK    GeneRIF: Studies suggest that the rs2718058 near gene NME8 on
            chromosome 7p14.1 might not play a major role in the genetic
            predisposition to late-onset Alzheimer's disease (LOAD) in the
            North Han Chinese.
REFERENCE   4  (bases 1 to 2308)
  AUTHORS   Shimizu,S., Momozawa,Y., Takahashi,A., Nagasawa,T., Ashikawa,K.,
            Terada,Y., Izumi,Y., Kobayashi,H., Tsuji,M., Kubo,M. and
            Furuichi,Y.
  TITLE     A genome-wide association study of periodontitis in a Japanese
            population
  JOURNAL   J Dent Res 94 (4), 555-561 (2015)
   PUBMED   25672891
  REMARK    GeneRIF: GPR141-NME8 locus had strong genetic effect on the
            susceptibility to generalized periodontitis in Japanese individuals
            with history of smoking. identified 2 suggestive loci for
            periodontitis in a Japanese population.
REFERENCE   5  (bases 1 to 2308)
  AUTHORS   Duriez,B., Duquesnoy,P., Escudier,E., Bridoux,A.M., Escalier,D.,
            Rayet,I., Marcos,E., Vojtek,A.M., Bercher,J.F. and Amselem,S.
  TITLE     A common variant in combination with a nonsense mutation in a
            member of the thioredoxin family causes primary ciliary dyskinesia
  JOURNAL   Proc Natl Acad Sci U S A 104 (9), 3336-3341 (2007)
   PUBMED   17360648
  REMARK    GeneRIF: Primary ciliary dyskinesia is caused by an SNP-induced
            modification of the ratio of two physiological isoforms of TXNDC3
            generated by alternative splicing.
            Erratum:[Proc Natl Acad Sci U S A. 2007 Apr 10;104(15):6490]
REFERENCE   6  (bases 1 to 2308)
  AUTHORS   Yoon,J.H., Singh,P., Lee,D.H., Qiu,J., Cai,S., O'Connor,T.R.,
            Chen,Y., Shen,B. and Pfeifer,G.P.
  TITLE     Characterization of the 3' --> 5' exonuclease activity found in
            human nucleoside diphosphate kinase 1 (NDK1) and several of its
            homologues
  JOURNAL   Biochemistry 44 (48), 15774-15786 (2005)
   PUBMED   16313181
REFERENCE   7  (bases 1 to 2308)
  AUTHORS   Sadek,C.M., Damdimopoulos,A.E., Pelto-Huikko,M., Gustafsson,J.A.,
            Spyrou,G. and Miranda-Vizuete,A.
  TITLE     Sptrx-2, a fusion protein composed of one thioredoxin and three
            tandemly repeated NDP-kinase domains is expressed in human testis
            germ cells
  JOURNAL   Genes Cells 6 (12), 1077-1090 (2001)
   PUBMED   11737268
REFERENCE   8  (bases 1 to 2308)
  AUTHORS   Padma,P., Hozumi,A., Ogawa,K. and Inaba,K.
  TITLE     Molecular cloning and characterization of a thioredoxin/nucleoside
            diphosphate kinase related dynein intermediate chain from the
            ascidian, Ciona intestinalis
  JOURNAL   Gene 275 (1), 177-183 (2001)
   PUBMED   11574167
REFERENCE   9  (bases 1 to 2308)
  AUTHORS   Lacombe,M.L., Milon,L., Munier,A., Mehus,J.G. and Lambeth,D.O.
  TITLE     The human Nm23/nucleoside diphosphate kinases
  JOURNAL   J Bioenerg Biomembr 32 (3), 247-258 (2000)
   PUBMED   11768308
  REMARK    Review article
REFERENCE   10 (bases 1 to 2308)
  AUTHORS   Zariwala,M.A., Knowles,M.R. and Leigh,M.W.
  TITLE     Primary Ciliary Dyskinesia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301301
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC036816.1 and AF202051.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_016616.4.
            
            Summary: This gene encodes a protein with an N-terminal thioredoxin
            domain and three C-terminal nucleoside diphosphate kinase (NDK)
            domains, but the NDK domains are thought to be catalytically
            inactive. The sea urchin ortholog of this gene encodes a component
            of sperm outer dynein arms, and the protein is implicated in
            ciliary function. Mutations in this gene are implicated in primary
            ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009].
            
            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 :: GQ472221.1, BC036816.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151119, SAMEA2161674
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000199447.9/ ENSP00000199447.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-271               BC036816.1         1-271
            272-2308            AF202051.2         1-2037
FEATURES             Location/Qualifiers
     source          1..2308
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.1"
     gene            1..2308
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /note="NME/NM23 family member 8"
                     /db_xref="GeneID:51314"
                     /db_xref="HGNC:HGNC:16473"
                     /db_xref="MIM:607421"
     exon            1..132
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /inference="alignment:Splign:2.1.0"
     exon            133..365
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /inference="alignment:Splign:2.1.0"
     exon            366..405
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /inference="alignment:Splign:2.1.0"
     CDS             373..2139
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /note="sperm-specific thioredoxin 2; thioredoxin domain
                     containing 3 (spermatozoa); spermatid-specific
                     thioredoxin-2; epididymis secretory protein Li 99; 3'-5'
                     exonuclease NME8"
                     /codon_start=1
                     /product="thioredoxin domain-containing protein 3"
                     /protein_id="NP_057700.3"
                     /db_xref="CCDS:CCDS5452.1"
                     /db_xref="GeneID:51314"
                     /db_xref="HGNC:HGNC:16473"
                     /db_xref="MIM:607421"
                     /translation="MASKKREVQLQTVINNQSLWDEMLQNKGLTVIDVYQAWCGPCRA
                     MQPLFRKLKNELNEDEILHFAVAEADNIVTLQPFRDKCEPVFLFSVNGKIIEKIQGAN
                     APLVNKKVINLIDEERKIAAGEMARPQYPEIPLVDSDSEVSEESPCESVQELYSIAII
                     KPDAVISKKVLEIKRKITKAGFIIEAEHKTVLTEEQVVNFYSRIADQCDFEEFVSFMT
                     SGLSYILVVSQGSKHNPPSEETEPQTDTEPNERSEDQPEVEAQVTPGMMKNKQDSLQE
                     YLERQHLAQLCDIEEDAANVAKFMDAFFPDFKKMKSMKLEKTLALLRPNLFHERKDDV
                     LRIIKDEDFKILEQRQVVLSEKEAQALCKEYENEDYFNKLIENMTSGPSLALVLLRDN
                     GLQYWKQLLGPRTVEEAIEYFPESLCAQFAMDSLPVNQLYGSDSLETAEREIQHFFPL
                     QSTLGLIKPHATSEQREQILKIVKEAGFDLTQVKKMFLTPEQIEKIYPKVTGKDFYKD
                     LLEMLSVGPSMVMILTKWNAVAEWRRLMGPTDPEEAKLLSPDSIRAQFGISKLKNIVH
                     GASNAYEAKEVVNRLFEDPEEN"
     exon            406..463
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /inference="alignment:Splign:2.1.0"
     exon            464..570
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /inference="alignment:Splign:2.1.0"
     exon            571..642
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /inference="alignment:Splign:2.1.0"
     exon            643..759
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /inference="alignment:Splign:2.1.0"
     exon            760..826
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /inference="alignment:Splign:2.1.0"
     exon            827..900
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /inference="alignment:Splign:2.1.0"
     exon            901..993
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /inference="alignment:Splign:2.1.0"
     exon            994..1190
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /inference="alignment:Splign:2.1.0"
     exon            1191..1366
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /inference="alignment:Splign:2.1.0"
     exon            1367..1511
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /inference="alignment:Splign:2.1.0"
     exon            1512..1619
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /inference="alignment:Splign:2.1.0"
     exon            1620..1771
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /inference="alignment:Splign:2.1.0"
     exon            1772..1916
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /inference="alignment:Splign:2.1.0"
     exon            1917..2154
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /inference="alignment:Splign:2.1.0"
     exon            2155..2308
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2288..2293
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /note="hexamer: AATAAA"
     polyA_site      2308
                     /gene="NME8"
                     /gene_synonym="CILD6; DNAI8; HEL-S-99; NM23-H8; sptrx-2;
                     SPTRX2; TXNDC3"
                     /note="major polyA site"
ORIGIN      
        1 ggagtttggg gatgaggcag ctgaagaaca gagtcttgtg atggtggaac caggacttcg
       61 ttgttccttc attgtgtggg cagaagaggt ggaggatttt aggcgccacc tggtcttgtc
      121 cccactgccc agacaggcag ggaatccctc ttcttccttt tgctgaatca gctggagaag
      181 aaagcccagc aggaggcctg ctagcctcag cctcgggccc taccagggtc ctaggtactg
      241 gaatggaact tcgccgaggt caccgctcaa acggccacaa cgagggagcc gatttagatc
      301 ctctgggcct gttccttcct tttctttaaa cgtcccagtc tagcttagag gaggacctgt
      361 tttgttagat aaatggcaag caaaaaacga gaagtccagt tacagacagt catcaataat
      421 caaagcctgt gggatgagat gttgcagaac aaaggcttaa cagtgattga tgtttaccaa
      481 gcctggtgtg gaccttgcag agcaatgcaa cctttattca gaaaattgaa aaatgaactg
      541 aacgaagacg aaattctgca ttttgctgtc gcagaagctg acaacattgt gactttgcag
      601 ccatttagag ataaatgtga acctgttttt ctctttagtg ttaatggcaa aattatcgaa
      661 aagattcagg gtgcaaatgc accgcttgtt aataaaaaag ttattaattt gatcgatgag
      721 gagagaaaaa ttgcagcagg tgaaatggct cgacctcagt atcctgaaat tccattagta
      781 gactcagatt cagaagttag tgaagaatca ccatgtgaaa gtgttcagga attatacagt
      841 attgctatta tcaaaccgga tgctgtgatt agtaaaaaag ttctagaaat taaaagaaaa
      901 attaccaaag ctggatttat tatagaagca gagcataaga cagtgctcac tgaagaacaa
      961 gttgtcaact tctatagtcg aatagcagac cagtgtgact tcgaagagtt tgtctctttt
     1021 atgacaagtg gcttaagcta tattctagtt gtatctcaag gaagtaaaca caatcctccc
     1081 tctgaagaaa ccgaaccaca gactgacacc gaacctaacg aacgatctga ggatcaacct
     1141 gaggtcgaag cccaggttac acctggaatg atgaagaaca aacaagacag tttacaagaa
     1201 tatctggaaa gacaacattt agctcagctc tgtgacattg aagaggatgc agctaatgtt
     1261 gctaagttca tggatgcttt cttccccgat tttaaaaaaa tgaaaagcat gaaattagaa
     1321 aagacattgg cattacttcg accaaatctc tttcatgaaa ggaaagatga tgttttgcgt
     1381 attattaaag atgaagactt caaaatactg gagcaaagac aagtagtatt atcggaaaaa
     1441 gaagcacaag cactgtgcaa ggaatatgaa aatgaagact attttaataa acttatagaa
     1501 aacatgacca gtggtccatc tctagccctt gttttattga gagacaatgg cttgcaatac
     1561 tggaaacaat tactgggacc aagaactgtt gaagaagcca ttgaatattt tccagagagt
     1621 ttatgtgcac agtttgcgat ggacagtttg ccggtcaacc agttgtatgg cagcgattca
     1681 ttagaaaccg ctgaaaggga aatacagcat ttctttcctc ttcaaagcac tttaggcttg
     1741 attaaacctc atgcaacaag tgaacaaaga gagcagatcc tgaagatagt taaggaggct
     1801 ggatttgatc tgacacaggt gaagaaaatg ttcctaactc ctgagcaaat agagaaaatt
     1861 tatccaaaag taacaggaaa agacttttat aaagatttat tggaaatgtt atctgtgggt
     1921 ccatctatgg tcatgattct gaccaagtgg aatgctgttg cagaatggag acgattgatg
     1981 ggcccaacag acccagaaga agcaaaatta ctttcccctg actccatccg agcccagttt
     2041 ggaataagta aattgaaaaa cattgtccat ggagcatcta acgcctatga agcaaaagag
     2101 gttgttaata gactctttga ggatcctgag gaaaactaaa gtatatactg tgaaaacttt
     2161 gagaagataa tacatatgtt cacgtcaata tacaaccatt tggcacagct tcctgggagg
     2221 aataataaga aaaacatgct ttggaggaaa actcaagata caaaaatgaa tggctatgca
     2281 taataacaat aaaaatgtat tccccaaa
//
