LOCUS       NM_005742               2279 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens protein disulfide isomerase family A member 6 (PDIA6),
            transcript variant 4, mRNA.
ACCESSION   NM_005742
VERSION     NM_005742.4
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 2279)
  AUTHORS   Kim,J.B., Hyung,H., Bae,J.E., Jang,S., Park,N.Y., Jo,D.S.,
            Kim,Y.H., Choi,D.K., Ryu,H.Y., Lee,H.S., Ryoo,Z.Y. and Cho,D.H.
  TITLE     Increased ER stress by depletion of PDIA6 impairs primary
            ciliogenesis and enhances sensitivity to ferroptosis in kidney
            cells
  JOURNAL   BMB Rep 57 (10), 453-458 (2024)
   PUBMED   39044457
  REMARK    GeneRIF: Increased ER stress by depletion of PDIA6 impairs primary
            ciliogenesis and enhances sensitivity to ferroptosis in kidney
            cells.
REFERENCE   2  (bases 1 to 2279)
  AUTHORS   Wan,X., Ma,D., Song,G., Tang,L., Jiang,X., Tian,Y., Yi,Z.,
            Jiang,C., Jin,Y., Hu,A. and Bai,Y.
  TITLE     The SOX2/PDIA6 axis mediates aerobic glycolysis to promote stemness
            in non-small cell lung cancer cells
  JOURNAL   J Bioenerg Biomembr 56 (3), 323-332 (2024)
   PUBMED   38441855
  REMARK    GeneRIF: The SOX2/PDIA6 axis mediates aerobic glycolysis to promote
            stemness in non-small cell lung cancer cells.
REFERENCE   3  (bases 1 to 2279)
  AUTHORS   Wang,P., Zhang,T., Jiang,N., Wang,K., Feng,L., Liu,T. and Yang,X.
  TITLE     PDIA6, which is regulated by TRPM2-AS/miR-424-5p axis, promotes
            endometrial cancer progression via TGF-beta pathway
  JOURNAL   Cell Death Dis 14 (12), 829 (2023)
   PUBMED   38097564
  REMARK    GeneRIF: PDIA6, which is regulated by TRPM2-AS/miR-424-5p axis,
            promotes endometrial cancer progression via TGF-beta pathway.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2279)
  AUTHORS   Huang,Y., Yan,H., Yang,Y., Zhou,J., Xu,Q. and Meng,H.
  TITLE     Downregulated miR-181a alleviates H2O2-induced oxidative stress and
            cellular senescence by targeting PDIA6 in human foreskin
            fibroblasts
  JOURNAL   An Bras Dermatol 98 (1), 17-25 (2023)
   PUBMED   36244946
  REMARK    GeneRIF: Downregulated miR-181a alleviates H2O2-induced oxidative
            stress and cellular senescence by targeting PDIA6 in human foreskin
            fibroblasts.
REFERENCE   5  (bases 1 to 2279)
  AUTHORS   Mestre-Farras,N., Guerrero,S., Bley,N., Rivero,E., Coll,O.,
            Borras,E., Sabido,E., Indacochea,A., Casillas-Serra,C.,
            Jarvelin,A.I., Oliva,B., Castello,A., Huttelmaier,S. and Gebauer,F.
  TITLE     Melanoma RBPome identification reveals PDIA6 as an unconventional
            RNA-binding protein involved in metastasis
  JOURNAL   Nucleic Acids Res 50 (14), 8207-8225 (2022)
   PUBMED   35848924
  REMARK    GeneRIF: Melanoma RBPome identification reveals PDIA6 as an
            unconventional RNA-binding protein involved in metastasis.
REFERENCE   6  (bases 1 to 2279)
  AUTHORS   Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E.,
            Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   7  (bases 1 to 2279)
  AUTHORS   Basrur,V., Yang,F., Kushimoto,T., Higashimoto,Y., Yasumoto,K.,
            Valencia,J., Muller,J., Vieira,W.D., Watabe,H., Shabanowitz,J.,
            Hearing,V.J., Hunt,D.F. and Appella,E.
  TITLE     Proteomic analysis of early melanosomes: identification of novel
            melanosomal proteins
  JOURNAL   J Proteome Res 2 (1), 69-79 (2003)
   PUBMED   12643545
REFERENCE   8  (bases 1 to 2279)
  AUTHORS   Kikuchi,M., Doi,E., Tsujimoto,I., Horibe,T. and Tsujimoto,Y.
  TITLE     Functional analysis of human P5, a protein disulfide isomerase
            homologue
  JOURNAL   J Biochem 132 (3), 451-455 (2002)
   PUBMED   12204115
  REMARK    GeneRIF: observed to have peptide-binding ability, and chaperone
            activity was confirmed with rhodanese and citrate synthase as
            substrates, but not with D-glyceraldehyde-3-phosphate
            dehydrogenase, showing substrate specificity with respect to
            chaperone activity
REFERENCE   9  (bases 1 to 2279)
  AUTHORS   Hayano,T. and Kikuchi,M.
  TITLE     Cloning and sequencing of the cDNA encoding human P5
  JOURNAL   Gene 164 (2), 377-378 (1995)
   PUBMED   7590364
REFERENCE   10 (bases 1 to 2279)
  AUTHORS   Dawson,S.J. and White,L.A.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC001312.1, AK127433.1 and BM511594.1.
            
            On Jun 2, 2019 this sequence version replaced NM_005742.3.
            
            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
            encoded protein has an N-terminal ER-signal sequence, two
            catalytically active thioredoxin (TRX) domains, a TRX-like domain,
            and a C-terminal ER-retention sequence. This protein inhibits the
            aggregation of misfolded proteins and exhibits both isomerase and
            chaperone activity. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Dec 2016].
            
            Transcript Variant: This variant (4) contains alternate 5' exon
            structure and it thus differs in the 5' UTR and 5' coding region,
            compared to variant 1. The encoded isoform (d) has a distinct
            N-terminus and is shorter than isoform a.
            
            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 :: SRR3476690.642123.1,
                                           SRR3476690.1175049.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000272227.8/ ENSP00000272227.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1809              BC001312.1         11-1819
            1810-2277           AK127433.1         2215-2682
            2278-2279           BM511594.1         17-18               c
FEATURES             Location/Qualifiers
     source          1..2279
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p25.1"
     gene            1..2279
                     /gene="PDIA6"
                     /gene_synonym="ERP5; P5; TXNDC7"
                     /note="protein disulfide isomerase family A member 6"
                     /db_xref="GeneID:10130"
                     /db_xref="HGNC:HGNC:30168"
                     /db_xref="MIM:611099"
     exon            1..108
                     /gene="PDIA6"
                     /gene_synonym="ERP5; P5; TXNDC7"
                     /inference="alignment:Splign:2.1.0"
     CDS             90..1412
                     /gene="PDIA6"
                     /gene_synonym="ERP5; P5; TXNDC7"
                     /EC_number="5.3.4.1"
                     /note="isoform d precursor is encoded by transcript
                     variant 4; protein disulfide isomerase-associated 6;
                     thioredoxin domain containing 7 (protein disulfide
                     isomerase); protein disulfide isomerase-related protein;
                     endoplasmic reticulum protein 5; protein
                     disulfide-isomerase A6; protein disulfide isomerase P5;
                     thioredoxin domain-containing protein 7; epididymis
                     secretory sperm binding protein; ER protein 5"
                     /codon_start=1
                     /product="protein disulfide-isomerase A6 isoform d
                     precursor"
                     /protein_id="NP_005733.1"
                     /db_xref="CCDS:CCDS1675.1"
                     /db_xref="GeneID:10130"
                     /db_xref="HGNC:HGNC:30168"
                     /db_xref="MIM:611099"
                     /translation="MALLVLGLVSCTFFLAVNGLYSSSDDVIELTPSNFNREVIQSDS
                     LWLVEFYAPWCGHCQRLTPEWKKAATALKDVVKVGAVDADKHHSLGGQYGVQGFPTIK
                     IFGSNKNRPEDYQGGRTGEAIVDAALSALRQLVKDRLGGRSGGYSSGKQGRSDSSSKK
                     DVIELTDDSFDKNVLDSEDVWMVEFYAPWCGHCKNLEPEWAAAASEVKEQTKGKVKLA
                     AVDATVNQVLASRYGIRGFPTIKIFQKGESPVDYDGGRTRSDIVSRALDLFSDNAPPP
                     ELLEIINEDIAKRTCEEHQLCVVAVLPHILDTGAAGRNSYLEVLLKLADKYKKKMWGW
                     LWTEAGAQSELETALGIGGFGYPAMAAINARKMKFALLKGSFSEQGINEFLRELSFGR
                     GSTAPVGGGAFPTIVEREPWDGRDGELPVEDDIDLSDVELDDLGKDEL"
     exon            109..250
                     /gene="PDIA6"
                     /gene_synonym="ERP5; P5; TXNDC7"
                     /inference="alignment:Splign:2.1.0"
     exon            251..308
                     /gene="PDIA6"
                     /gene_synonym="ERP5; P5; TXNDC7"
                     /inference="alignment:Splign:2.1.0"
     exon            309..435
                     /gene="PDIA6"
                     /gene_synonym="ERP5; P5; TXNDC7"
                     /inference="alignment:Splign:2.1.0"
     exon            436..542
                     /gene="PDIA6"
                     /gene_synonym="ERP5; P5; TXNDC7"
                     /inference="alignment:Splign:2.1.0"
     exon            543..673
                     /gene="PDIA6"
                     /gene_synonym="ERP5; P5; TXNDC7"
                     /inference="alignment:Splign:2.1.0"
     exon            674..788
                     /gene="PDIA6"
                     /gene_synonym="ERP5; P5; TXNDC7"
                     /inference="alignment:Splign:2.1.0"
     exon            789..929
                     /gene="PDIA6"
                     /gene_synonym="ERP5; P5; TXNDC7"
                     /inference="alignment:Splign:2.1.0"
     exon            930..1014
                     /gene="PDIA6"
                     /gene_synonym="ERP5; P5; TXNDC7"
                     /inference="alignment:Splign:2.1.0"
     exon            1015..1087
                     /gene="PDIA6"
                     /gene_synonym="ERP5; P5; TXNDC7"
                     /inference="alignment:Splign:2.1.0"
     exon            1088..1246
                     /gene="PDIA6"
                     /gene_synonym="ERP5; P5; TXNDC7"
                     /inference="alignment:Splign:2.1.0"
     exon            1247..1343
                     /gene="PDIA6"
                     /gene_synonym="ERP5; P5; TXNDC7"
                     /inference="alignment:Splign:2.1.0"
     exon            1344..2279
                     /gene="PDIA6"
                     /gene_synonym="ERP5; P5; TXNDC7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1787..1792
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDIA6"
                     /gene_synonym="ERP5; P5; TXNDC7"
                     /note="hexamer: AATAAA"
     polyA_site      1811
                     /gene="PDIA6"
                     /gene_synonym="ERP5; P5; TXNDC7"
     regulatory      2263..2268
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDIA6"
                     /gene_synonym="ERP5; P5; TXNDC7"
                     /note="hexamer: AATACA"
     polyA_site      2279
                     /gene="PDIA6"
                     /gene_synonym="ERP5; P5; TXNDC7"
                     /note="major polyA site"
ORIGIN      
        1 gggacgtggg cgcgggggcg cggcgtgcgg cacgctgcag ggctgaagcg gcggcggcgg
       61 tggggactgc acgtagcccg gcgctcggca tggctctcct ggtgctcggt ctggtgagct
      121 gtaccttctt tctggcagtg aatggtctgt attcctctag tgatgatgtg atcgaattaa
      181 ctccatcgaa tttcaaccga gaagttattc agagtgatag tttgtggctt gtagaattct
      241 atgctccatg gtgtggtcac tgtcaaagat taacaccaga atggaagaaa gcagcaactg
      301 cattaaaaga tgttgtcaaa gttggtgcag ttgatgcaga taagcatcat tccctaggag
      361 gtcagtatgg tgttcaggga tttcctacca ttaagatttt tggatccaac aaaaacagac
      421 cagaagatta ccaaggtggc agaactggtg aagccattgt agatgctgcg ctgagtgctc
      481 tgcgccagct cgtgaaggat cgcctcgggg gacggagcgg aggatacagt tctggaaaac
      541 aaggcagaag tgatagttca agtaagaagg atgtgattga gctgacagac gacagctttg
      601 ataagaatgt tctggacagt gaagatgttt ggatggttga gttctatgct ccttggtgtg
      661 gacactgcaa aaacctagag ccagagtggg ctgccgcagc ttcagaagta aaagagcaga
      721 cgaaaggaaa agtgaaactg gcagctgtgg atgctacagt caatcaggtt ctggcctccc
      781 gatacgggat tagaggattt cctacaatca agatatttca gaaaggcgag tctcctgtgg
      841 attatgacgg tgggcggaca agatccgaca tcgtgtcccg ggcccttgat ttgttttctg
      901 ataacgcccc acctcctgag ctgcttgaga ttatcaacga ggacattgcc aagaggacgt
      961 gtgaggagca ccagctctgt gttgtggctg tgctgcccca tatccttgat actggagctg
     1021 caggcagaaa ttcttatctg gaagttcttc tgaagttggc agacaaatac aaaaagaaaa
     1081 tgtgggggtg gctgtggaca gaagctggag cccagtctga acttgagacc gcgttgggga
     1141 ttggagggtt tgggtacccc gccatggccg ccatcaatgc acgcaagatg aaatttgctc
     1201 tgctaaaagg ctccttcagt gagcaaggca tcaacgagtt tctcagggag ctctcttttg
     1261 ggcgtggctc cacggcacct gtaggaggcg gggctttccc taccatcgtt gagagagagc
     1321 cttgggacgg cagggatggc gagcttcccg tggaggatga cattgacctc agtgatgtgg
     1381 agcttgatga cttagggaaa gatgagttgt gagagccaca acagaggctt cagaccattt
     1441 tcttttcttg ggagccagtg gatttttcca gcagtgaagg gacattctct acactcagat
     1501 gactctacca gtggcctttt aaccaagaag tagtacttga ttggtcattt gaaaacactg
     1561 caacagtgaa cttttgcatc tcaagaaaac attgaaaaat tctatgaatt gttgtagccg
     1621 gtgaattgag tcgtattctg tcacataata ttttgaagaa aacttggctg tcgaaacatt
     1681 tttctctctg actgctgctt gaatgttctt ggaggctgtt tcttatgtat gggttttttt
     1741 taatgtgatc ccttcatttg aatattaatg gctttttcca ttaaagaata aaatattttg
     1801 gacaatgccg ataaatgtat gaagttagta tccacatcat aaattcagag tgatgtttag
     1861 cagtaaatca atattttgaa gtgatacaca gatgtctttc ctccccacaa acttttttaa
     1921 acaaaaaaca agacctcttt tctttagatg gtgccaccta tgcccaccac aacagagatt
     1981 ttacatggaa accgggctca gtgagaactg atttcctgcc caatatttgt ctttgggctg
     2041 tctctagtga ctaattatta aggaatctag ctggttatac agttcaaggc tttctatgtt
     2101 gttaatgaac ctcaaaatag ccgttaagac atgaaataca gcagcaggtt accaatgcga
     2161 acaggtagtt cgcatttatg taaaacattc agaaaatgaa gttttgaatt tgttggaaca
     2221 ttcaaaggac ttgagagcat tttattgtaa cttaaaaaaa taaatacaac tgtcactaa
//
