LOCUS       NM_001350515            4691 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens thioredoxin related transmembrane protein 3 (TMX3),
            transcript variant 5, mRNA.
ACCESSION   NM_001350515 XM_005266714
VERSION     NM_001350515.2
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 4691)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 4691)
  AUTHORS   Zhang,X., Gibhardt,C.S., Will,T., Stanisz,H., Korbel,C.,
            Mitkovski,M., Stejerean,I., Cappello,S., Pacheu-Grau,D., Dudek,J.,
            Tahbaz,N., Mina,L., Simmen,T., Laschke,M.W., Menger,M.D.,
            Schon,M.P., Helms,V., Niemeyer,B.A., Rehling,P., Vultur,A. and
            Bogeski,I.
  TITLE     Redox signals at the ER-mitochondria interface control melanoma
            progression
  JOURNAL   EMBO J 38 (15), e100871 (2019)
   PUBMED   31304984
  REMARK    GeneRIF: Data show that TMX3 expression is upregulated in melanoma
            cell lines and patient samples. TMX knockdown altered mitochondrial
            organization, enhanced bioenergetics, and elevated mitochondrial-
            and NOX4-derived ROS. The TMX-knockdown-induced oxidative stress
            suppressed melanoma proliferation, migration, and xenograft tumor
            growth by inhibiting NFAT1. TMX1 is associated with poor disease
            outcome.
REFERENCE   3  (bases 1 to 4691)
  AUTHORS   Yang,L., Neale,B.M., Liu,L., Lee,S.H., Wray,N.R., Ji,N., Li,H.,
            Qian,Q., Wang,D., Li,J., Faraone,S.V. and Wang,Y.
  CONSRTM   Psychiatric GWAS Consortium: ADHD Subgroup
  TITLE     Polygenic transmission and complex neuro developmental network for
            attention deficit hyperactivity disorder: genome-wide association
            study of both common and rare variants
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 162B (5), 419-430 (2013)
   PUBMED   23728934
REFERENCE   4  (bases 1 to 4691)
  AUTHORS   Galligan,J.J. and Petersen,D.R.
  TITLE     The human protein disulfide isomerase gene family
  JOURNAL   Hum Genomics 6 (1), 6 (2012)
   PUBMED   23245351
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4691)
  AUTHORS   Chao,R., Nevin,L., Agarwal,P., Riemer,J., Bai,X., Delaney,A.,
            Akana,M., JimenezLopez,N., Bardakjian,T., Schneider,A.,
            Chassaing,N., Schorderet,D.F., FitzPatrick,D., Kwok,P.Y.,
            Ellgaard,L., Gould,D.B., Zhang,Y., Malicki,J., Baier,H. and
            Slavotinek,A.
  TITLE     A male with unilateral microphthalmia reveals a role for TMX3 in
            eye development
  JOURNAL   PLoS One 5 (5), e10565 (2010)
   PUBMED   20485507
  REMARK    GeneRIF: Haploinsufficiency for TMX3 results in a small eye
            phenotype and represents a novel genetic cause of microphthalmia
            and coloboma.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4691)
  AUTHORS   Holbrook,L.M., Watkins,N.A., Simmonds,A.D., Jones,C.I.,
            Ouwehand,W.H. and Gibbins,J.M.
  TITLE     Platelets release novel thiol isomerase enzymes which are recruited
            to the cell surface following activation
  JOURNAL   Br J Haematol 148 (4), 627-637 (2010)
   PUBMED   19995400
REFERENCE   7  (bases 1 to 4691)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 4691)
  AUTHORS   Haugstetter,J., Maurer,M.A., Blicher,T., Pagac,M., Wider,G. and
            Ellgaard,L.
  TITLE     Structure-function analysis of the endoplasmic reticulum
            oxidoreductase TMX3 reveals interdomain stabilization of the
            N-terminal redox-active domain
  JOURNAL   J Biol Chem 282 (46), 33859-33867 (2007)
   PUBMED   17881353
  REMARK    GeneRIF: analysis of TMX3 interdomain stabilization of the
            N-terminal redox-active domain
REFERENCE   9  (bases 1 to 4691)
  AUTHORS   Haugstetter,J., Blicher,T. and Ellgaard,L.
  TITLE     Identification and characterization of a novel thioredoxin-related
            transmembrane protein of the endoplasmic reticulum
  JOURNAL   J Biol Chem 280 (9), 8371-8380 (2005)
   PUBMED   15623505
  REMARK    GeneRIF: TMX3 is a thioredoxin-related transmembrane protein of the
            endoplasmic reticulum
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK310389.1, BC143400.1,
            AL832341.1 and BX647846.1.
            
            On May 31, 2019 this sequence version replaced NM_001350515.1.
            
            Summary: This gene encodes a member of the disulfide isomerase
            (PDI) family of endoplasmic reticulum (ER) proteins that catalyze
            protein folding and thiol-disulfide interchange reactions. The
            canonical protein encoded by this gene has an N-terminal ER-signal
            sequence, a catalytically active thioredoxin domain, one
            transmembrane domain and a C-terminal ER-retention sequence. This
            gene is expressed in many tissues but has its highest expression in
            heart and skeletal muscle. It is expressed in the retinal
            neuroepithelium and lens epithelium in the developing murine eye
            and haploinsufficiency of this gene in humans and zebrafish is
            associated with microphthalmia. Alternative splicing results in
            multiple transcript variants encoding distinct isoforms. [provided
            by RefSeq, Apr 2017].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.251809.1,
                                           SRR1660803.155546.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-31                AK310389.1         191-221
            32-1540             BC143400.1         1-1509
            1541-4113           AL832341.1         1543-4115
            4114-4691           BX647846.1         4177-4754
FEATURES             Location/Qualifiers
     source          1..4691
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q22.1"
     gene            1..4691
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /note="thioredoxin related transmembrane protein 3"
                     /db_xref="GeneID:54495"
                     /db_xref="HGNC:HGNC:24718"
                     /db_xref="MIM:616102"
     exon            1..173
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            174..228
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            229..268
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            269..392
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            393..473
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            474..573
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     CDS             505..1446
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /EC_number="5.3.4.1"
                     /note="isoform 5 is encoded by transcript variant 5;
                     protein disulfide isomerase family A, member 13;
                     thioredoxin domain containing 10; protein
                     disulfide-isomerase TMX3; thioredoxin domain-containing
                     protein 10"
                     /codon_start=1
                     /product="protein disulfide-isomerase TMX3 isoform 5"
                     /protein_id="NP_001337444.1"
                     /db_xref="GeneID:54495"
                     /db_xref="HGNC:HGNC:24718"
                     /db_xref="MIM:616102"
                     /translation="MFEHMQKRHRVFFVYVGGESPLKEKYIDAASELIVYTYFFSASE
                     EVVPEYVTLKEMPAVLVFKDETYFVYDEYEDGDLSSWINRERFQNYLAMDGFLLYELG
                     DTGKLVALAVIDEKNTSVEHTRLKSIIQEVARDYRDLFHRDFQFGHMDGNDYINTLLM
                     DELTVPTVVVLNTSNQQYFLLDRQIKNVEDMVQFINNILDGTVEAQGGDSILQRLKRI
                     VFDAKSTIVSIFKSSPLMGCFLFGLPLGVISIMCYGIYTADTDGGYIEERYEVSKSEN
                     ENQEQIEESKEQQEPSSGGSVVPTVQEPKDVLEKKKD"
     exon            574..651
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            652..718
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            719..817
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            818..875
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            876..929
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            930..986
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1116
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            1117..1185
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            1186..4691
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3624..3629
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /note="hexamer: ATTAAA"
     polyA_site      3647
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /note="major polyA site"
     regulatory      4668..4673
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /note="hexamer: AATAAA"
     polyA_site      4691
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /note="major polyA site"
ORIGIN      
        1 agttagcgcg gtgcttctct tccgctccgg gtcggctccg tttccctttc cgggcgggca
       61 ggcggcggac cccagtgtct ttatccctct tttgcacagt cagcttctgc agctctcccg
      121 ggctagcatg gcagcgtgga agagttggac ggccctgcgg ctctgcgcca cagttgttgt
      181 acttgatatg gtcgtctgta aaggatttgt agaagattta gatgaatcgt ttaaagaaaa
      241 tcgaaatgat gacatttggc ttgtagattt ttatgcgcca tggtgtggcc attgtaaaaa
      301 gctggaacca atttggaatg aagttggtct tgagatgaaa agcattggtt ctccagttaa
      361 ggttggaaag atggatgcta cttcctattc taattaaaag gggacttggc atataattat
      421 agaggaccac gaacaaaaga tgatattatt gagtttgctc acagagtatc tggggctcta
      481 attcggccac ttccaagtca acaaatgttt gaacatatgc agaagagaca ccgtgtattt
      541 ttcgtttatg taggtggaga atcacctttg aaagagaaat acatagatgc tgcttcagaa
      601 ttgattgtat atacatactt cttttctgcc tcagaagaag tggttcctga gtatgtgaca
      661 ctaaaagaga tgccagctgt gcttgttttc aaagatgaaa cttactttgt ttatgatgag
      721 tatgaagatg gtgatctgtc atcatggatc aacagggaaa ggtttcagaa ttaccttgct
      781 atggatggct tcctcttgta tgaacttgga gacacaggaa agcttgtggc tcttgcagtt
      841 attgatgaga aaaatacatc agttgaacat accagattga agtcaattat tcaggaagtt
      901 gcaagagatt acagagacct cttccatagg gattttcagt ttggccacat ggatggaaat
      961 gactacataa ataccttgct gatggatgaa ttgacagtcc caactgtagt tgtactgaat
     1021 acttcaaacc agcaatattt cttgctagat agacagatta agaatgttga agacatggtc
     1081 cagtttatta ataacatttt ggatggcaca gtagaagccc aaggaggtga tagcattttg
     1141 cagagattga aaagaatagt atttgatgcc aaatctacta ttgtgtctat attcaagagc
     1201 tcaccactga tgggctgctt tctctttggc ctgccactgg gtgtcatcag tatcatgtgc
     1261 tatggaatct acacagccga cacagatgga ggttatatag aagaacgata tgaagtgtct
     1321 aaaagtgaaa atgaaaacca agaacagata gaagagagca aagaacagca ggagcccagc
     1381 agtggaggat ctgtagtgcc tacagtgcag gagcccaagg atgtattaga aaagaagaaa
     1441 gattgagact tgatgactat aaaatatttg ttaggacttc aaattattaa agagtctatt
     1501 tattgaattt agacatttaa tcatgatctt tacagaaaag aacatgttat tcgtattttg
     1561 ctaatatcaa ctgcatggat taaagtagtc cctccataca tggggaagtg tttggagcaa
     1621 agagatgaac agtttgtctg aaacaaacac agagcactcc atcaaaattt acctgatctt
     1681 tgtgattaga acagaacaat tctatttgca tgtttctcta tctgaatatt ctgtgacaaa
     1741 aagttaagat tcttgggcag aatatttaaa ttggtcagtc aggtagaaga tacatgtgtg
     1801 atatagaaaa ataatgcctc tcctgctgcc atccgtttcc ctcatatatt ttggacaaga
     1861 tttatatgga caaaattaag tctttaaaat ttaggcactt taaggagaac taataacttt
     1921 ttccatgtat caagattatg aggttaaaaa taatgtggtt ttatatagca tagtggtttt
     1981 attttgttag ttatttttaa aggagaagaa atgttacttt ttaactttat actcagttgc
     2041 attatcataa aattttcata tatgcctaga taatggggaa aaaaagtctt gtgattgact
     2101 ttcgcaaaat aaacaggatt tactgagtag aggtttcagc ccattccttg gaatactaac
     2161 aggtatttca tcagtcattg taggttggga agggtctctg ttaatcctac tctgctttag
     2221 ccagaatagc ctagtatttt atttctattt tatatattga gatttcttct aacatttcct
     2281 ttgataaaaa tcttctgctt tttgaaaagt ggtatgtatc atatttttat gtttctggtg
     2341 tgtgaacttt atggtaactt ctactctaga atacgtacgt atgcacccac agacacacac
     2401 agtttattga cacatctatt atgtaatgct gtagacctgt ccgtgtctgc ttcataagga
     2461 gtaacgactg acattagcat gtccagtgac aagtcacatc cggtgtaaaa aaaagagatc
     2521 agccagttac cttctccatt gtcttagttc tgtcacccat ttcgtcaagt gacctctcat
     2581 cttctataaa ctaatacagg aattctttcc aaagcaatgt ctaaaaactc ttttttttaa
     2641 agtaacagtt tggtatgttt attgtagata aattattttt gaggccttca ttttagctaa
     2701 gtttagaatt tatattaggc aactatgatt tgagtggtta ttcattgagt aattttccac
     2761 tataaagaat tttattgaac atttattaaa aaataatgta atgcatggtc aaaaaatatg
     2821 taattcatgg tctggacact gacgttgttt agggatttag tcatcaagga cagccctctg
     2881 ttgtttctaa tgccgtacta atcaagactg tatggacact tgcatcttaa gtactaagga
     2941 attactagtg attgttttat tttatccatg tactctttta gtatttaata attaaatacc
     3001 tattcttagt gtttgacact ccatatttct tttttttgga aatgaaacaa atatgcagtc
     3061 caaaattcag gaactactag agtgaaatga tattaagtgg aaaccagaga taaatgctgt
     3121 taatttaaca agtagattct tctccaaaga atgatgagtg attcttggga agataaatgt
     3181 taatgttccc aatagtcaag cttgttttgc agtagtgaaa agcttagatg agtacggata
     3241 cctcatttga aactcagcct agtaaggaag tgaaaactta gcagtcagtg acatggggaa
     3301 atagttatag aaaatgtcac tgaatttttt catatttata attagtcatt tacatatttt
     3361 tgtcttgttg atcattacct gtaaatgaaa gaccttaata ggaaaaaaag agtaaagctc
     3421 agtgtgaatg caaacatcca caaaatatga tcttcgttta tattctgtga tgttgtttat
     3481 aaatgaatgc ctcagttctc tgctaccctt ttcacagctt tgtactgttt gccttatatt
     3541 ctatttgtgc ttttaaagtg tgtctgttgg gaaaacaaaa tgtgtaggtg gtttgtaagt
     3601 gaataatttt tatttcttct tgtattaaaa ttttgttttt ttctctactt tgggagatgt
     3661 ttatttacat tgtcagacta ttcacaaaac agattctaaa atttgtttgc tcgtatgctg
     3721 ttcccttcaa tgtgatatca gagattacta tgaatgttag tttcattccg tgaaacatta
     3781 cttccatata aagacagatc tcttaataag tgaatctagt ggaagaacat aggtatcatt
     3841 ctaattccat ggtaaatttt gtcatgattc tatatgaata atggggtcct tcaggaagtt
     3901 ggaatttttg ccttctcttt taattgcagt gaagttctct ttataacttc taaaattcgg
     3961 aattctagat ccttgctttt gcagaatttg gtgctcagac aatatttaag gacatttcag
     4021 cgagacaaag tgcatgtttt tatcgagtac cctgtgcacc acattatatc tggcaattct
     4081 ttttgtttca ttatgtgcat caatattttt ctcagctact attacctgaa acttgtttaa
     4141 catgtattag acctagaatt ttcattttct ttctcacata gttgcttcct ggtatctgat
     4201 ttagaaataa catttaaatg ccaagtatct gggggattga aggaagggtc tatatgagca
     4261 ggtgaattag cagtactgtt tttgtttagt ggatattgtt agtgactttt tgtgtgtgtt
     4321 ttgctttggg acctttttat tttggtgttg caaaaagtaa catattttca tcattgcttc
     4381 atacgacatg gagttaggac agggaaaaat cattcaacac tccttatgca ttaaatgatc
     4441 aaataaacca gtgtaggata ttaagactat caattggtgg gattaggctt gacattttat
     4501 ttttataaat atatattttt tctgaatgtg tctgagtcca agagtgggca aaaaataatt
     4561 ttctactttg gactaatcta tagaggtttt tgaaagtctg cattactaac ttgttgaatt
     4621 catgatattc tgcctatggc acaaattgta aacctttgtt tttctaaaat aaagtaattg
     4681 aaaacctgca a
//
