LOCUS       NM_019022               4737 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens thioredoxin related transmembrane protein 3 (TMX3),
            transcript variant 1, mRNA.
ACCESSION   NM_019022
VERSION     NM_019022.5
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 4737)
  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 4737)
  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 4737)
  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 4737)
  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 4737)
  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 4737)
  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 4737)
  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 4737)
  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 4737)
  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, AL832341.1 and
            BX647846.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_019022.4.
            
            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 :: BX647846.1, SRR1660809.3619.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000299608.7/ ENSP00000299608.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1884              AK310389.1         191-2074
            1885-4159           AL832341.1         1841-4115
            4160-4737           BX647846.1         4177-4754
FEATURES             Location/Qualifiers
     source          1..4737
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q22.1"
     gene            1..4737
                     /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"
     CDS             128..1492
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /EC_number="5.3.4.1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; 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 1
                     precursor"
                     /protein_id="NP_061895.3"
                     /db_xref="CCDS:CCDS32840.1"
                     /db_xref="GeneID:54495"
                     /db_xref="HGNC:HGNC:24718"
                     /db_xref="MIM:616102"
                     /translation="MAAWKSWTALRLCATVVVLDMVVCKGFVEDLDESFKENRNDDIW
                     LVDFYAPWCGHCKKLEPIWNEVGLEMKSIGSPVKVGKMDATSYSSIASEFGVRGYPTI
                     KLLKGDLAYNYRGPRTKDDIIEFAHRVSGALIRPLPSQQMFEHMQKRHRVFFVYVGGE
                     SPLKEKYIDAASELIVYTYFFSASEEVVPEYVTLKEMPAVLVFKDETYFVYDEYEDGD
                     LSSWINRERFQNYLAMDGFLLYELGDTGKLVALAVIDEKNTSVEHTRLKSIIQEVARD
                     YRDLFHRDFQFGHMDGNDYINTLLMDELTVPTVVVLNTSNQQYFLLDRQIKNVEDMVQ
                     FINNILDGTVEAQGGDSILQRLKRIVFDAKSTIVSIFKSSPLMGCFLFGLPLGVISIM
                     CYGIYTADTDGGYIEERYEVSKSENENQEQIEESKEQQEPSSGGSVVPTVQEPKDVLE
                     KKKD"
     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..438
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            439..519
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            520..619
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            620..697
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            698..764
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            765..863
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            864..921
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            922..975
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            976..1032
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            1033..1162
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            1163..1231
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     exon            1232..4737
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3670..3675
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /note="hexamer: ATTAAA"
     polyA_site      3693
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /note="major polyA site"
     regulatory      4714..4719
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /note="hexamer: AATAAA"
     polyA_site      4737
                     /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 tagcattgct tcagagtttg gagttcgagg
      421 ttatccaaca attaagctat taaaagggga cttggcatat aattatagag gaccacgaac
      481 aaaagatgat attattgagt ttgctcacag agtatctggg gctctaattc ggccacttcc
      541 aagtcaacaa atgtttgaac atatgcagaa gagacaccgt gtatttttcg tttatgtagg
      601 tggagaatca cctttgaaag agaaatacat agatgctgct tcagaattga ttgtatatac
      661 atacttcttt tctgcctcag aagaagtggt tcctgagtat gtgacactaa aagagatgcc
      721 agctgtgctt gttttcaaag atgaaactta ctttgtttat gatgagtatg aagatggtga
      781 tctgtcatca tggatcaaca gggaaaggtt tcagaattac cttgctatgg atggcttcct
      841 cttgtatgaa cttggagaca caggaaagct tgtggctctt gcagttattg atgagaaaaa
      901 tacatcagtt gaacatacca gattgaagtc aattattcag gaagttgcaa gagattacag
      961 agacctcttc catagggatt ttcagtttgg ccacatggat ggaaatgact acataaatac
     1021 cttgctgatg gatgaattga cagtcccaac tgtagttgta ctgaatactt caaaccagca
     1081 atatttcttg ctagatagac agattaagaa tgttgaagac atggtccagt ttattaataa
     1141 cattttggat ggcacagtag aagcccaagg aggtgatagc attttgcaga gattgaaaag
     1201 aatagtattt gatgccaaat ctactattgt gtctatattc aagagctcac cactgatggg
     1261 ctgctttctc tttggcctgc cactgggtgt catcagtatc atgtgctatg gaatctacac
     1321 agccgacaca gatggaggtt atatagaaga acgatatgaa gtgtctaaaa gtgaaaatga
     1381 aaaccaagaa cagatagaag agagcaaaga acagcaggag cccagcagtg gaggatctgt
     1441 agtgcctaca gtgcaggagc ccaaggatgt attagaaaag aagaaagatt gagacttgat
     1501 gactataaaa tatttgttag gacttcaaat tattaaagag tctatttatt gaatttagac
     1561 atttaatcat gatctttaca gaaaagaaca tgttattcgt attttgctaa tatcaactgc
     1621 atggattaaa gtagtccctc catacatggg gaagtgtttg gagcaaagag atgaacagtt
     1681 tgtctgaaac aaacacagag cactccatca aaatttacct gatctttgtg attagaacag
     1741 aacaattcta tttgcatgtt tctctatctg aatattctgt gacaaaaagt taagattctt
     1801 gggcagaata tttaaattgg tcagtcaggt agaagataca tgtgtgatat agaaaaataa
     1861 tgcctctcct gctgccatcc gtttccctca tatattttgg acaagattta tatggacaaa
     1921 attaagtctt taaaatttag gcactttaag gagaactaat aactttttcc atgtatcaag
     1981 attatgaggt taaaaataat gtggttttat atagcatagt ggttttattt tgttagttat
     2041 ttttaaagga gaagaaatgt tactttttaa ctttatactc agttgcatta tcataaaatt
     2101 ttcatatatg cctagataat ggggaaaaaa agtcttgtga ttgactttcg caaaataaac
     2161 aggatttact gagtagaggt ttcagcccat tccttggaat actaacaggt atttcatcag
     2221 tcattgtagg ttgggaaggg tctctgttaa tcctactctg ctttagccag aatagcctag
     2281 tattttattt ctattttata tattgagatt tcttctaaca tttcctttga taaaaatctt
     2341 ctgctttttg aaaagtggta tgtatcatat ttttatgttt ctggtgtgtg aactttatgg
     2401 taacttctac tctagaatac gtacgtatgc acccacagac acacacagtt tattgacaca
     2461 tctattatgt aatgctgtag acctgtccgt gtctgcttca taaggagtaa cgactgacat
     2521 tagcatgtcc agtgacaagt cacatccggt gtaaaaaaaa gagatcagcc agttaccttc
     2581 tccattgtct tagttctgtc acccatttcg tcaagtgacc tctcatcttc tataaactaa
     2641 tacaggaatt ctttccaaag caatgtctaa aaactctttt ttttaaagta acagtttggt
     2701 atgtttattg tagataaatt atttttgagg ccttcatttt agctaagttt agaatttata
     2761 ttaggcaact atgatttgag tggttattca ttgagtaatt ttccactata aagaatttta
     2821 ttgaacattt attaaaaaat aatgtaatgc atggtcaaaa aatatgtaat tcatggtctg
     2881 gacactgacg ttgtttaggg atttagtcat caaggacagc cctctgttgt ttctaatgcc
     2941 gtactaatca agactgtatg gacacttgca tcttaagtac taaggaatta ctagtgattg
     3001 ttttatttta tccatgtact cttttagtat ttaataatta aatacctatt cttagtgttt
     3061 gacactccat atttcttttt tttggaaatg aaacaaatat gcagtccaaa attcaggaac
     3121 tactagagtg aaatgatatt aagtggaaac cagagataaa tgctgttaat ttaacaagta
     3181 gattcttctc caaagaatga tgagtgattc ttgggaagat aaatgttaat gttcccaata
     3241 gtcaagcttg ttttgcagta gtgaaaagct tagatgagta cggatacctc atttgaaact
     3301 cagcctagta aggaagtgaa aacttagcag tcagtgacat ggggaaatag ttatagaaaa
     3361 tgtcactgaa ttttttcata tttataatta gtcatttaca tatttttgtc ttgttgatca
     3421 ttacctgtaa atgaaagacc ttaataggaa aaaaagagta aagctcagtg tgaatgcaaa
     3481 catccacaaa atatgatctt cgtttatatt ctgtgatgtt gtttataaat gaatgcctca
     3541 gttctctgct acccttttca cagctttgta ctgtttgcct tatattctat ttgtgctttt
     3601 aaagtgtgtc tgttgggaaa acaaaatgtg taggtggttt gtaagtgaat aatttttatt
     3661 tcttcttgta ttaaaatttt gtttttttct ctactttggg agatgtttat ttacattgtc
     3721 agactattca caaaacagat tctaaaattt gtttgctcgt atgctgttcc cttcaatgtg
     3781 atatcagaga ttactatgaa tgttagtttc attccgtgaa acattacttc catataaaga
     3841 cagatctctt aataagtgaa tctagtggaa gaacataggt atcattctaa ttccatggta
     3901 aattttgtca tgattctata tgaataatgg ggtccttcag gaagttggaa tttttgcctt
     3961 ctcttttaat tgcagtgaag ttctctttat aacttctaaa attcggaatt ctagatcctt
     4021 gcttttgcag aatttggtgc tcagacaata tttaaggaca tttcagcgag acaaagtgca
     4081 tgtttttatc gagtaccctg tgcaccacat tatatctggc aattcttttt gtttcattat
     4141 gtgcatcaat atttttctca gctactatta cctgaaactt gtttaacatg tattagacct
     4201 agaattttca ttttctttct cacatagttg cttcctggta tctgatttag aaataacatt
     4261 taaatgccaa gtatctgggg gattgaagga agggtctata tgagcaggtg aattagcagt
     4321 actgtttttg tttagtggat attgttagtg actttttgtg tgtgttttgc tttgggacct
     4381 ttttattttg gtgttgcaaa aagtaacata ttttcatcat tgcttcatac gacatggagt
     4441 taggacaggg aaaaatcatt caacactcct tatgcattaa atgatcaaat aaaccagtgt
     4501 aggatattaa gactatcaat tggtgggatt aggcttgaca ttttattttt ataaatatat
     4561 attttttctg aatgtgtctg agtccaagag tgggcaaaaa ataattttct actttggact
     4621 aatctataga ggtttttgaa agtctgcatt actaacttgt tgaattcatg atattctgcc
     4681 tatggcacaa attgtaaacc tttgtttttc taaaataaag taattgaaaa cctgcaa
//
