LOCUS       NM_024715               3090 bp    mRNA    linear   PRI 23-FEB-2025
DEFINITION  Homo sapiens thioredoxin domain containing 15 (TXNDC15), transcript
            variant 1, mRNA.
ACCESSION   NM_024715
VERSION     NM_024715.4
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 3090)
  AUTHORS   Guerra,C. and Molinari,M.
  TITLE     Thioredoxin-Related Transmembrane Proteins: TMX1 and Little
            Brothers TMX2, TMX3, TMX4 and TMX5
  JOURNAL   Cells 9 (9), 2000 (2020)
   PUBMED   32878123
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3090)
  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   3  (bases 1 to 3090)
  AUTHORS   Ridnoi,K., Sois,M., Vaidla,E., Pajusalu,S., Kelder,L., Reimand,T.
            and Ounap,K.
  TITLE     A prenatally diagnosed case of Meckel-Gruber syndrome with novel
            compound heterozygous pathogenic variants in the TXNDC15 gene
  JOURNAL   Mol Genet Genomic Med 7 (5), e614 (2019)
   PUBMED   30851085
  REMARK    GeneRIF: TXNDC15 was identified as a novel causative gene of
            prenatally diagnosed Meckel-Gruber syndrome.
REFERENCE   4  (bases 1 to 3090)
  AUTHORS   Shaheen,R., Szymanska,K., Basu,B., Patel,N., Ewida,N., Faqeih,E.,
            Al Hashem,A., Derar,N., Alsharif,H., Aldahmesh,M.A., Alazami,A.M.,
            Hashem,M., Ibrahim,N., Abdulwahab,F.M., Sonbul,R., Alkuraya,H.,
            Alnemer,M., Al Tala,S., Al-Husain,M., Morsy,H., Seidahmed,M.Z.,
            Meriki,N., Al-Owain,M., AlShahwan,S., Tabarki,B., Salih,M.A.,
            Faquih,T., El-Kalioby,M., Ueffing,M., Boldt,K., Logan,C.V.,
            Parry,D.A., Al Tassan,N., Monies,D., Megarbane,A., Abouelhoda,M.,
            Halees,A., Johnson,C.A. and Alkuraya,F.S.
  CONSRTM   Ciliopathy WorkingGroup
  TITLE     Characterizing the morbid genome of ciliopathies
  JOURNAL   Genome Biol 17 (1), 242 (2016)
   PUBMED   27894351
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3090)
  AUTHORS   Xiao,F. and Gordge,M.P.
  TITLE     Cell surface thiol isomerases may explain the platelet-selective
            action of S-nitrosoglutathione
  JOURNAL   Nitric Oxide 25 (3), 303-308 (2011)
   PUBMED   21642008
  REMARK    GeneRIF: Increased surface thiol isomerase activity on platelets,
            compared with cells of the vascular wall, may explain the
            platelet-selective actions of S-nitrosoglutathione and help define
            its antithrombotic potential
REFERENCE   6  (bases 1 to 3090)
  AUTHORS   Gudbjartsson,D.F., Walters,G.B., Thorleifsson,G., Stefansson,H.,
            Halldorsson,B.V., Zusmanovich,P., Sulem,P., Thorlacius,S.,
            Gylfason,A., Steinberg,S., Helgadottir,A., Ingason,A.,
            Steinthorsdottir,V., Olafsdottir,E.J., Olafsdottir,G.H.,
            Jonsson,T., Borch-Johnsen,K., Hansen,T., Andersen,G., Jorgensen,T.,
            Pedersen,O., Aben,K.K., Witjes,J.A., Swinkels,D.W., den Heijer,M.,
            Franke,B., Verbeek,A.L., Becker,D.M., Yanek,L.R., Becker,L.C.,
            Tryggvadottir,L., Rafnar,T., Gulcher,J., Kiemeney,L.A., Kong,A.,
            Thorsteinsdottir,U. and Stefansson,K.
  TITLE     Many sequence variants affecting diversity of adult human height
  JOURNAL   Nat Genet 40 (5), 609-615 (2008)
   PUBMED   18391951
REFERENCE   7  (bases 1 to 3090)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   8  (bases 1 to 3090)
  AUTHORS   Zhang,H., Li,X.J., Martin,D.B. and Aebersold,R.
  TITLE     Identification and quantification of N-linked glycoproteins using
            hydrazide chemistry, stable isotope labeling and mass spectrometry
  JOURNAL   Nat Biotechnol 21 (6), 660-666 (2003)
   PUBMED   12754519
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC032568.1, BX538131.1 and
            AC006077.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_024715.3.
            
            Summary: This gene encodes a member of the thioredoxin superfamily.
            Members of this family are characterized by a conserved active
            motif called the thioredoxin fold that catalyzes disulfide bond
            formation and isomerization. [provided by RefSeq, Apr 2017].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY358649.1, BC001615.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358387.9/ ENSP00000351157.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-368               BC032568.1         3-370
            369-1121            BX538131.1         297-1049
            1122-3088           AC006077.1         66829-68795
            3089-3090           AC006077.1         68796-68797
FEATURES             Location/Qualifiers
     source          1..3090
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..3090
                     /gene="TXNDC15"
                     /gene_synonym="BUG; C5orf14; MKS14; TMX5; UNQ335"
                     /note="thioredoxin domain containing 15"
                     /db_xref="GeneID:79770"
                     /db_xref="HGNC:HGNC:20652"
                     /db_xref="MIM:617778"
     exon            1..160
                     /gene="TXNDC15"
                     /gene_synonym="BUG; C5orf14; MKS14; TMX5; UNQ335"
                     /inference="alignment:Splign:2.1.0"
     CDS             58..1140
                     /gene="TXNDC15"
                     /gene_synonym="BUG; C5orf14; MKS14; TMX5; UNQ335"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; 2310047H23Rik; thioredoxin domain-containing
                     protein 15; disulfide isomerase"
                     /codon_start=1
                     /product="thioredoxin domain-containing protein 15 isoform
                     1 precursor"
                     /protein_id="NP_078991.3"
                     /db_xref="CCDS:CCDS4180.1"
                     /db_xref="GeneID:79770"
                     /db_xref="HGNC:HGNC:20652"
                     /db_xref="MIM:617778"
                     /translation="MVPAAGRRPPRVMRLLGWWQVLLWVLGLPVRGVEVAEESGRLWS
                     EEQPAHPLQVGAVYLGEEELLHDPMGQDRAAEEANAVLGLDTQGDHMVMLSVIPGEAE
                     DKVSSEPSGVTCGAGGAEDSRCNVRESLFSLDGAGAHFPDREEEYYTEPEVAESDAAP
                     TEDSNNTESLKSPKVNCEERNITGLENFTLKILNMSQDLMDFLNPNGSDCTLVLFYTP
                     WCRFSASLAPHFNSLPRAFPALHFLALDASQHSSLSTRFGTVAVPNILLFQGAKPMAR
                     FNHTDRTLETLKIFIFNQTGIEAKKNVVVTQADQIGPLPSTLIKSVDWLLVFSLFFLI
                     SFIMYATIRTESIRWLIPGQEQEHVE"
     exon            161..648
                     /gene="TXNDC15"
                     /gene_synonym="BUG; C5orf14; MKS14; TMX5; UNQ335"
                     /inference="alignment:Splign:2.1.0"
     exon            649..812
                     /gene="TXNDC15"
                     /gene_synonym="BUG; C5orf14; MKS14; TMX5; UNQ335"
                     /inference="alignment:Splign:2.1.0"
     exon            813..943
                     /gene="TXNDC15"
                     /gene_synonym="BUG; C5orf14; MKS14; TMX5; UNQ335"
                     /inference="alignment:Splign:2.1.0"
     exon            944..3090
                     /gene="TXNDC15"
                     /gene_synonym="BUG; C5orf14; MKS14; TMX5; UNQ335"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1252..1257
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TXNDC15"
                     /gene_synonym="BUG; C5orf14; MKS14; TMX5; UNQ335"
                     /note="hexamer: ATTAAA"
     polyA_site      1276
                     /gene="TXNDC15"
                     /gene_synonym="BUG; C5orf14; MKS14; TMX5; UNQ335"
     regulatory      2948..2953
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TXNDC15"
                     /gene_synonym="BUG; C5orf14; MKS14; TMX5; UNQ335"
                     /note="hexamer: AATACA"
     polyA_site      2966
                     /gene="TXNDC15"
                     /gene_synonym="BUG; C5orf14; MKS14; TMX5; UNQ335"
                     /note="major polyA site"
     regulatory      3069..3074
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TXNDC15"
                     /gene_synonym="BUG; C5orf14; MKS14; TMX5; UNQ335"
                     /note="hexamer: AATAAA"
     polyA_site      3090
                     /gene="TXNDC15"
                     /gene_synonym="BUG; C5orf14; MKS14; TMX5; UNQ335"
ORIGIN      
        1 ctccggctgg cagcacgact cgcgtagccg tgcgccgatt gcctctcggc ctgggcaatg
       61 gtcccggctg ccggtcgacg accgccccgc gtcatgcggc tcctcggctg gtggcaagta
      121 ttgctgtggg tgctgggact tcccgtccgc ggcgtggagg ttgcagagga aagtggtcgc
      181 ttatggtcag aggagcagcc tgctcaccct ctccaggtgg gggctgtgta cctgggtgag
      241 gaggagctcc tgcatgaccc gatgggccag gacagggcag cagaagaggc caatgcggtg
      301 ctggggctgg acacccaagg cgatcacatg gtgatgctgt ctgtgattcc tggggaagct
      361 gaggacaaag tgagttcaga gcctagcggc gtcacctgtg gtgctggagg agcggaggac
      421 tcaaggtgca acgtccgaga gagccttttc tctctggatg gcgctggagc acacttccct
      481 gacagagaag aggagtatta cacagagcca gaagtggcgg aatctgacgc agccccgaca
      541 gaggactcca ataacactga aagtctgaaa tccccaaagg tgaactgtga ggagagaaac
      601 attacaggat tagaaaattt cactctgaaa attttaaata tgtcacagga ccttatggat
      661 tttctgaacc caaacggtag tgactgtact ctagtcctgt tttacacccc gtggtgccgc
      721 ttttctgcca gtttggcccc tcactttaac tctctgcccc gggcatttcc agctcttcac
      781 tttttggcac tggatgcatc tcagcacagc agcctttcta ccaggtttgg caccgtagct
      841 gttcctaata ttttattatt tcaaggagct aaaccaatgg ccagatttaa tcatacagat
      901 cgaacactgg aaacactgaa aatcttcatt tttaatcaga caggtataga agccaagaag
      961 aatgtggtgg taactcaagc cgaccaaata ggccctcttc ccagcacttt gataaaaagt
     1021 gtggactggt tgcttgtatt ttccttattc tttttaatta gttttattat gtatgctacc
     1081 attcgaactg agagtattcg gtggctaatt ccaggacaag agcaggaaca tgtggagtag
     1141 tgatggtctg aaagaagttg gaaagaggaa cttcaatcct tcgtttcaga aattagtgct
     1201 acagtttcat acattttctc cagtgacgtg ttgacttgaa acttcaggca gattaaaaga
     1261 atcatttgtt gaacaactga atgtataaaa aaattataaa ctggtgtttt aactagtatt
     1321 gcaataagca aatgcaaaaa tattcaatag atgcactatt cttgttttta ctgcatgaac
     1381 gtaatccagt atttggaaag taatccagtt tgaaatgtga agatgtattc cggcagaata
     1441 gtgagtagaa tgacatgctt actatacaga aggcaaaaat aggactctca ggtaatagtt
     1501 taaggaaacc cttgattcct tatatatgtt taagaaggtt agttttctgt ttctttgcag
     1561 tttttcttct agagtccata gcaggaaagt atgtaaccag aattggttag tgtgaccccc
     1621 tcaagtagca agtgatggaa aataagagtc aaataccttg atgtttgtga tctctaactc
     1681 aaaaaatttg aagtgtttta agttgtttct gggtaaggga gatgttagga gaaaggaaat
     1741 gctgtaacta aagctcaatt attatcagtt ctatgctaac gtatacattt taatcatagt
     1801 tacctaagca gcatgcatta attgaacctt aaaatgttcc cagcaggctg ggcgcagtgg
     1861 ctcatgcctg taatcccagc actttgggag gccaaggcgg gaggatcact tgaggttagg
     1921 acttttgaga ccagcctggc caacttggtg aaaccctctc tctactaaaa atacaaaaaa
     1981 ttagctgggc gtggtggcgg gcacctgtaa tcccagctac ttgggaaagc tgaggcatga
     2041 gaatcacttg aacccgggag gcagaggttg cagtgagctg agatcatgcc actgcactcc
     2101 agcctgtgca accagagcga aactccatct caaaaacaaa caaaaagaag tattgaagtg
     2161 taaaacactg ttcttgccca caagttgatt ctagtctagt tcaagacaca tgtttagtaa
     2221 agagacaaca tgtaatttaa acaaactttt tttttttttt tagacaaagt ctcactctgt
     2281 cacctaggct ggagtgcaat ggtgcaatct tggctcactg caacctctgc ttcccgggtt
     2341 caagcgattc tccagcctca gcctcctgag tagctgggac tatgggcctg tgccatcaca
     2401 cccagctaat ttttctattt ttagtagaga tggggttttg ccatgttggc caggctggtc
     2461 tcaaactgct gacttcaggt gatccacccg cctcagcctc ccaaagtgtt gggattacag
     2521 gtgtgagcca ctgcgcctgg cctaaacaaa ctttttgaaa agctgtttct aaaagattcc
     2581 ttaaattcag atatgacagc taattacctc atcataaatt acttttatac taattgtttc
     2641 cagggtttta gagtagttga atgtttattt cacaaggcac cctaaattct atagaaataa
     2701 aacctcagat gagtctcctt cttagagtgt tacaatgaat gggagtttac aacttttatg
     2761 tgtcatgttt ccaacagctg tgtttggggt ggtcactggc aggaggggac cgtatctcag
     2821 aatggcacat tatttctatt ttacacatga gcaaattgag gcatagagag ttagataact
     2881 tgcccaggtt acacagattg taagttgatg aagctgggat ttgaatcttc acatgtgtgt
     2941 acttataaat acaaatgtaa ggaaaactct agtgagtcca cctcttatat tgagttatta
     3001 ctgtgtgagt gccaagtact gttttagatg ctttacatat actattttgt ttaatatcct
     3061 ttttaaagaa taaactaggt tggtgcagta
//
