LOCUS       NM_000918               2437 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens prolyl 4-hydroxylase subunit beta (P4HB), mRNA.
ACCESSION   NM_000918
VERSION     NM_000918.4
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 2437)
  AUTHORS   Wang,H., Li,Y., Wu,N., Lv,C. and Wang,Y.
  TITLE     P4HB regulates the TGFbeta/SMAD3 signaling pathway through PRMT1 to
            participate in high glucose-induced epithelial-mesenchymal
            transition and fibrosis of renal tubular epithelial cells
  JOURNAL   BMC Nephrol 25 (1), 297 (2024)
   PUBMED   39251943
  REMARK    GeneRIF: P4HB regulates the TGFbeta/SMAD3 signaling pathway through
            PRMT1 to participate in high glucose-induced epithelial-mesenchymal
            transition and fibrosis of renal tubular epithelial cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2437)
  AUTHORS   Moretti,A.I.S., Baksheeva,V.E., Roman,A.Y., De Bessa,T.C.,
            Devred,F., Kovacic,H. and Tsvetkov,P.O.
  TITLE     Exploring the Influence of Zinc Ions on the Conformational
            Stability and Activity of Protein Disulfide Isomerase
  JOURNAL   Int J Mol Sci 25 (4), 2095 (2024)
   PUBMED   38396772
  REMARK    GeneRIF: Exploring the Influence of Zinc Ions on the Conformational
            Stability and Activity of Protein Disulfide Isomerase.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2437)
  AUTHORS   Huang,R., Wu,D., Zhang,K., Hu,G., Liu,Y., Jiang,Y., Wang,C. and
            Zheng,Y.
  TITLE     ARID1A loss induces P4HB to activate fibroblasts to support lung
            cancer cell growth, invasion, and chemoresistance
  JOURNAL   Cancer Sci 115 (2), 439-451 (2024)
   PUBMED   38100120
  REMARK    GeneRIF: ARID1A loss induces P4HB to activate fibroblasts to
            support lung cancer cell growth, invasion, and chemoresistance.
REFERENCE   4  (bases 1 to 2437)
  AUTHORS   Li,H., Guo,H., Huang,Q., Wang,S., Li,X. and Qiu,M.
  TITLE     Circular RNA P4HB promotes glycolysis and tumor progression by
            binding with PKM2 in lung adenocarcinoma
  JOURNAL   Respir Res 24 (1), 252 (2023)
   PUBMED   37880717
  REMARK    GeneRIF: Circular RNA P4HB promotes glycolysis and tumor
            progression by binding with PKM2 in lung adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2437)
  AUTHORS   Zou,Z., Li,Z., Sun,W., Gao,W., Liu,B., Liu,J. and Guo,Y.
  TITLE     Establishment of prognostic model of bladder cancer based on
            apoptosis-related genes, in which P4HB promotes BLCA progression
  JOURNAL   BMC Urol 23 (1), 167 (2023)
   PUBMED   37845668
  REMARK    GeneRIF: Establishment of prognostic model of bladder cancer based
            on apoptosis-related genes, in which P4HB promotes BLCA
            progression.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2437)
  AUTHORS   Hochstrasser,D.F., Frutiger,S., Paquet,N., Bairoch,A., Ravier,F.,
            Pasquali,C., Sanchez,J.C., Tissot,J.D., Bjellqvist,B., Vargas,R. et
            al.
  TITLE     Human liver protein map: a reference database established by
            microsequencing and gel comparison
  JOURNAL   Electrophoresis 13 (12), 992-1001 (1992)
   PUBMED   1286669
REFERENCE   7  (bases 1 to 2437)
  AUTHORS   Tasanen,K., Oikarinen,J., Kivirikko,K.I. and Pihlajaniemi,T.
  TITLE     Promoter of the gene for the multifunctional protein disulfide
            isomerase polypeptide. Functional significance of the six CCAAT
            boxes and other promoter elements
  JOURNAL   J Biol Chem 267 (16), 11513-11519 (1992)
   PUBMED   1597478
REFERENCE   8  (bases 1 to 2437)
  AUTHORS   Vuori,K., Myllyla,R., Pihlajaniemi,T. and Kivirikko,K.I.
  TITLE     Expression and site-directed mutagenesis of human protein disulfide
            isomerase in Escherichia coli. This multifunctional polypeptide has
            two independently acting catalytic sites for the isomerase activity
  JOURNAL   J Biol Chem 267 (11), 7211-7214 (1992)
   PUBMED   1559965
REFERENCE   9  (bases 1 to 2437)
  AUTHORS   Chessler,S.D. and Byers,P.H.
  TITLE     Defective folding and stable association with protein disulfide
            isomerase/prolyl hydroxylase of type I procollagen with a deletion
            in the pro alpha 2(I) chain that preserves the Gly-X-Y repeat
            pattern
  JOURNAL   J Biol Chem 267 (11), 7751-7757 (1992)
   PUBMED   1339453
REFERENCE   10 (bases 1 to 2437)
  AUTHORS   Pihlajaniemi,T., Myllyla,R. and Kivirikko,K.I.
  TITLE     Prolyl 4-hydroxylase and its role in collagen synthesis
  JOURNAL   J Hepatol 13 Suppl 3, S2-S7 (1991)
   PUBMED   1667665
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB466371.1 and BC010859.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000918.3.
            
            Summary: This gene encodes the beta subunit of prolyl
            4-hydroxylase, a highly abundant multifunctional enzyme that
            belongs to the protein disulfide isomerase family. When present as
            a tetramer consisting of two alpha and two beta subunits, this
            enzyme is involved in hydroxylation of prolyl residues in
            preprocollagen. This enzyme is also a disulfide isomerase
            containing two thioredoxin domains that catalyze the formation,
            breakage and rearrangement of disulfide bonds. Other known
            functions include its ability to act as a chaperone that inhibits
            aggregation of misfolded proteins in a concentration-dependent
            manner, its ability to bind thyroid hormone, its role in both the
            influx and efflux of S-nitrosothiol-bound nitric oxide, and its
            function as a subunit of the microsomal triglyceride transfer
            protein complex. [provided by RefSeq, Jul 2008].
            
            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 :: SRR1803611.5600.1, HM005572.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331483.9/ ENSP00000327801.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                DB466371.1         65-84
            21-2437             BC010859.1         1-2417
FEATURES             Location/Qualifiers
     source          1..2437
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..2437
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /note="prolyl 4-hydroxylase subunit beta"
                     /db_xref="GeneID:5034"
                     /db_xref="HGNC:HGNC:8548"
                     /db_xref="MIM:176790"
     exon            1..209
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:2.1.0"
     CDS             65..1591
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /EC_number="5.3.4.1"
                     /note="protein disulfide isomerase-associated 1; collagen
                     prolyl 4-hydroxylase beta; protein disulfide isomerase
                     family A, member 1; protein disulfide
                     isomerase/oxidoreductase; procollagen-proline,
                     2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta
                     polypeptide; thyroid hormone-binding protein p55;
                     glutathione-insulin transhydrogenase; protocollagen
                     hydroxylase; testicular secretory protein Li 32; prolyl
                     4-hydroxylase, beta polypeptide; protein
                     disulfide-isomerase; cellular thyroid hormone-binding
                     protein"
                     /codon_start=1
                     /product="protein disulfide-isomerase precursor"
                     /protein_id="NP_000909.2"
                     /db_xref="CCDS:CCDS11787.1"
                     /db_xref="GeneID:5034"
                     /db_xref="HGNC:HGNC:8548"
                     /db_xref="MIM:176790"
                     /translation="MLRRALLCLAVAALVRADAPEEEDHVLVLRKSNFAEALAAHKYL
                     LVEFYAPWCGHCKALAPEYAKAAGKLKAEGSEIRLAKVDATEESDLAQQYGVRGYPTI
                     KFFRNGDTASPKEYTAGREADDIVNWLKKRTGPAATTLPDGAAAESLVESSEVAVIGF
                     FKDVESDSAKQFLQAAEAIDDIPFGITSNSDVFSKYQLDKDGVVLFKKFDEGRNNFEG
                     EVTKENLLDFIKHNQLPLVIEFTEQTAPKIFGGEIKTHILLFLPKSVSDYDGKLSNFK
                     TAAESFKGKILFIFIDSDHTDNQRILEFFGLKKEECPAVRLITLEEEMTKYKPESEEL
                     TAERITEFCHRFLEGKIKPHLMSQELPEDWDKQPVKVLVGKNFEDVAFDEKKNVFVEF
                     YAPWCGHCKQLAPIWDKLGETYKDHENIVIAKMDSTANEVEAVKVHSFPTLKFFPASA
                     DRTVIDYNGERTLDGFKKFLESGGQDGAGDDDDLEDLEEAEEPDMEEDDDQKAVKDEL
                     "
     exon            210..416
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:2.1.0"
     exon            417..550
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:2.1.0"
     exon            551..688
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:2.1.0"
     exon            689..793
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:2.1.0"
     exon            794..919
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:2.1.0"
     exon            920..1120
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:2.1.0"
     exon            1121..1241
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:2.1.0"
     exon            1242..1423
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:2.1.0"
     exon            1424..1510
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:2.1.0"
     exon            1511..2437
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2420..2425
                     /regulatory_class="polyA_signal_sequence"
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /note="hexamer: AATAAA"
     polyA_site      2437
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /note="major polyA site"
ORIGIN      
        1 gctctcgtcg cccccgctgt cccggcggcg ccaaccgaag cgccccgcct gatccgtgtc
       61 cgacatgctg cgccgcgctc tgctgtgcct ggccgtggcc gccctggtgc gcgccgacgc
      121 ccccgaggag gaggaccacg tcctggtgct gcggaaaagc aacttcgcgg aggcgctggc
      181 ggcccacaag tacctgctgg tggagttcta tgccccttgg tgtggccact gcaaggctct
      241 ggcccctgag tatgccaaag ccgctgggaa gctgaaggca gaaggttccg agatcaggtt
      301 ggccaaggtg gacgccacgg aggagtctga cctggcccag cagtacggcg tgcgcggcta
      361 tcccaccatc aagttcttca ggaatggaga cacggcttcc cccaaggaat atacagctgg
      421 cagagaggct gatgacatcg tgaactggct gaagaagcgc acgggcccgg ctgccaccac
      481 cctgcctgac ggcgcagctg cagagtcctt ggtggagtcc agcgaggtgg ctgtcatcgg
      541 cttcttcaag gacgtggagt cggactctgc caagcagttt ttgcaggcag cagaggccat
      601 cgatgacata ccatttggga tcacttccaa cagtgacgtg ttctccaaat accagctcga
      661 caaagatggg gttgtcctct ttaagaagtt tgatgaaggc cggaacaact ttgaagggga
      721 ggtcaccaag gagaacctgc tggactttat caaacacaac cagctgcccc ttgtcatcga
      781 gttcaccgag cagacagccc cgaagatttt tggaggtgaa atcaagactc acatcctgct
      841 gttcttgccc aagagtgtgt ctgactatga cggcaaactg agcaacttca aaacagcagc
      901 cgagagcttc aagggcaaga tcctgttcat cttcatcgac agcgaccaca ccgacaacca
      961 gcgcatcctc gagttctttg gcctgaagaa ggaagagtgc ccggccgtgc gcctcatcac
     1021 cctggaggag gagatgacca agtacaagcc cgaatcggag gagctgacgg cagagaggat
     1081 cacagagttc tgccaccgct tcctggaggg caaaatcaag ccccacctga tgagccagga
     1141 gctgccggag gactgggaca agcagcctgt caaggtgctt gttgggaaga actttgaaga
     1201 cgtggctttt gatgagaaaa aaaacgtctt tgtggagttc tatgccccat ggtgtggtca
     1261 ctgcaaacag ttggctccca tttgggataa actgggagag acgtacaagg accatgagaa
     1321 catcgtcatc gccaagatgg actcgactgc caacgaggtg gaggccgtca aagtgcacag
     1381 cttccccaca ctcaagttct ttcctgccag tgccgacagg acggtcattg attacaacgg
     1441 ggaacgcacg ctggatggtt ttaagaaatt cctggagagc ggtggccagg atggggcagg
     1501 ggatgatgac gatctcgagg acctggaaga agcagaggag ccagacatgg aggaagacga
     1561 tgatcagaaa gctgtgaaag atgaactgta atacgcaaag ccagacccgg gcgctgccga
     1621 gacccctcgg gggctgcaca cccagcagca gcgcacgcct ccgaagcctg cggcctcgct
     1681 tgaaggaggg cgtcgccgga aacccaggga acctctctga agtgacacct cacccctaca
     1741 caccgtccgt tcacccccgt ctcttccttc tgcttttcgg tttttggaaa gggatccatc
     1801 tccaggcagc ccaccctggt ggggcttgtt tcctgaaacc atgatgtact ttttcataca
     1861 tgagtctgtc cagagtgctt gctaccgtgt tcggagtctc gctgcctccc tcccgcggga
     1921 ggtttctcct ctttttgaaa attccgtctg tgggattttt agacattttt cgacatcagg
     1981 gtatttgttc caccttggcc aggcctcctc ggagaagctt gtcccccgtg tgggagggac
     2041 ggagccggac tggacatggt cactcagtac cgcctgcagt gtcgccatga ctgatcatgg
     2101 ctcttgcatt tttgggtaaa tggagacttc cggatcctgt cagggtgtcc cccatgcctg
     2161 gaagaggagc tggtggctgc cagccctggg gcccggcaca ggcctgggcc ttccccttcc
     2221 ctcaagccag ggctcctcct cctgtcgtgg gctcattgtg accactggcc tctctacagc
     2281 acggcctgtg gcctgttcaa ggcagaacca cgacccttga ctcccgggtg gggaggtggc
     2341 caaggatgct ggagctgaat cagacgctga cagttcttca ggcatttcta tttcacaatc
     2401 gaattgaaca cattggccaa ataaagttga aatttta
//
