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2020-10-24 07:33:25, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_000918               2596 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.
ACCESSION   NM_000918
VERSION     NM_000918.3  GI:121256637
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 2596)
  AUTHORS   Kosuri,P., Alegre-Cebollada,J., Feng,J., Kaplan,A.,
            Ingles-Prieto,A., Badilla,C.L., Stockwell,B.R., Sanchez-Ruiz,J.M.,
            Holmgren,A. and Fernandez,J.M.
  TITLE     Protein folding drives disulfide formation
  JOURNAL   Cell 151 (4), 794-806 (2012)
   PUBMED   23141538
  REMARK    GeneRIF: A mixed disulfide complex was formed with the catalytic
            domain A1 from human PDI consistent with a model for
            cotranslational oxidative protein folding wherein PDI acts as a
            placeholder that is relieved by the pairing of cysteines caused by
            substrate folding.
REFERENCE   2  (bases 1 to 2596)
  AUTHORS   Cho,K., Cho,S., Lee,S.O., Oh,C., Kang,K., Ryoo,J., Lee,S., Kang,S.
            and Ahn,K.
  TITLE     Redox-regulated peptide transfer from the transporter associated
            with antigen processing to major histocompatibility complex class I
            molecules by protein disulfide isomerase
  JOURNAL   Antioxid. Redox Signal. 15 (3), 621-633 (2011)
   PUBMED   21299467
  REMARK    GeneRIF: these data revealed a redox-regulated chaperone function
            of PDI in delivering antigenic peptides from TAP to MHC-I.
REFERENCE   3  (bases 1 to 2596)
  AUTHORS   Paule,S., Li,Y. and Nie,G.
  TITLE     Cytoskeletal remodelling proteins identified in fetal-maternal
            interface in pregnant women and rhesus monkeys
  JOURNAL   J. Mol. Histol. 42 (2), 161-166 (2011)
   PUBMED   21373848
  REMARK    GeneRIF: TPM4, PDIA and SRC8 were also localized to the trophoblast
            cells, further highlighting the importance of these cytoskeletal
            remodelling proteins in early pregnancy
REFERENCE   4  (bases 1 to 2596)
  AUTHORS   Jasuja,R., Furie,B. and Furie,B.C.
  TITLE     Endothelium-derived but not platelet-derived protein disulfide
            isomerase is required for thrombus formation in vivo
  JOURNAL   Blood 116 (22), 4665-4674 (2010)
   PUBMED   20668226
  REMARK    GeneRIF: Functional PDI is rapidly secreted from human umbilical
            vein endothelial cells in culture upon activation with thrombin or
            after laser-induced stimulation.
REFERENCE   5  (bases 1 to 2596)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   6  (bases 1 to 2596)
  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 2596)
  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 2596)
  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 2596)
  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 2596)
  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 AU131354.1, DB466371.1,
            BC010859.1 and CA412209.1.
            On Jan 5, 2007 this sequence version replaced gi:20070124.
            
            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 :: BC029617.1, J02783.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025081, ERS025082 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-72                AU131354.1         1-72
            73-153              DB466371.1         4-84
            154-2575            BC010859.1         1-2422
            2576-2596           CA412209.1         1-21                c
FEATURES             Location/Qualifiers
     source          1..2596
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25"
     gene            1..2596
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /note="prolyl 4-hydroxylase, beta polypeptide"
                     /db_xref="GeneID:5034"
                     /db_xref="HGNC:8548"
                     /db_xref="HPRD:07181"
                     /db_xref="MIM:176790"
     exon            1..342
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    132
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /note="alternative transcription initiation site"
     misc_feature    183..185
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /note="upstream in-frame stop codon"
     variation       185
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1130664"
     variation       189
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11558888"
     CDS             198..1724
                     /gene="P4HB"
                     /gene_synonym="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; procollagen-proline,
                     2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta
                     polypeptide; protein disulfide isomerase family A, member
                     1; protein disulfide isomerase/oxidoreductase; thyroid
                     hormone-binding protein p55; glutathione-insulin
                     transhydrogenase; protocollagen hydroxylase; protein
                     disulfide-isomerase; prolyl 4-hydroxylase subunit beta;
                     cellular thyroid hormone-binding protein"
                     /codon_start=1
                     /product="protein disulfide-isomerase precursor"
                     /protein_id="NP_000909.2"
                     /db_xref="GI:20070125"
                     /db_xref="CCDS:CCDS11787.1"
                     /db_xref="GeneID:5034"
                     /db_xref="HGNC:8548"
                     /db_xref="HPRD:07181"
                     /db_xref="MIM:176790"
                     /translation="
MLRRALLCLAVAALVRADAPEEEDHVLVLRKSNFAEALAAHKYLLVEFYAPWCGHCKALAPEYAKAAGKLKAEGSEIRLAKVDATEESDLAQQYGVRGYPTIKFFRNGDTASPKEYTAGREADDIVNWLKKRTGPAATTLPDGAAAESLVESSEVAVIGFFKDVESDSAKQFLQAAEAIDDIPFGITSNSDVFSKYQLDKDGVVLFKKFDEGRNNFEGEVTKENLLDFIKHNQLPLVIEFTEQTAPKIFGGEIKTHILLFLPKSVSDYDGKLSNFKTAAESFKGKILFIFIDSDHTDNQRILEFFGLKKEECPAVRLITLEEEMTKYKPESEELTAERITEFCHRFLEGKIKPHLMSQELPEDWDKQPVKVLVGKNFEDVAFDEKKNVFVEFYAPWCGHCKQLAPIWDKLGETYKDHENIVIAKMDSTANEVEAVKVHSFPTLKFFPASADRTVIDYNGERTLDGFKKFLESGGQDGAGDDDDLEDLEEAEEPDMEEDDDQKAVKDEL
"
     sig_peptide     198..248
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     249..1721
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /product="protein disulfide-isomerase"
     misc_feature    267..1619
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /note="protein disulfide isomerases, eukaryotic; Region:
                     ER_PDI_fam; TIGR01130"
                     /db_xref="CDD:162215"
     misc_feature    276..584
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /note="Protein Disulfide Isomerase (PDIa) family, redox
                     active TRX domains; composed of eukaryotic proteins
                     involved in oxidative protein folding in the endoplasmic
                     reticulum (ER) by acting as catalysts and folding
                     assistants. Members of this family include PDI...; Region:
                     PDI_a_family; cd02961"
                     /db_xref="CDD:48510"
     misc_feature    order(354..356,363..365)
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /note="catalytic residues [active]"
                     /db_xref="CDD:48510"
     misc_feature    354..356
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="alkylation site; modified site"
     misc_feature    357..359
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Contributes to redox potential value; propagated
                     from UniProtKB/Swiss-Prot (P07237.3); other site"
     misc_feature    360..362
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Contributes to redox potential value; propagated
                     from UniProtKB/Swiss-Prot (P07237.3); other site"
     misc_feature    555..557
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Lowers pKa of C-terminal Cys of first active site;
                     propagated from UniProtKB/Swiss-Prot (P07237.3); other
                     site"
     misc_feature    606..893
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /note="Protein Disulfide Isomerase (PDIb) family, redox
                     inactive TRX-like domain b; composed of eukaryotic
                     proteins involved in oxidative protein folding in the
                     endoplasmic reticulum (ER) by acting as catalysts and
                     folding assistants. Members of this family...; Region:
                     PDI_b_family; cd02981"
                     /db_xref="CDD:48530"
     misc_feature    927..1238
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /note="Protein Disulfide Isomerase (PDIb') family, redox
                     inactive TRX-like domain b'; composed of eukaryotic
                     proteins involved in oxidative protein folding in the
                     endoplasmic reticulum (ER) by acting as catalysts and
                     folding assistants. Members of this family...; Region:
                     PDI_b'_family; cd02982"
                     /db_xref="CDD:48531"
     misc_feature    1299..1607
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /note="PDIa family, C-terminal TRX domain (a') subfamily;
                     composed of the C-terminal redox active a' domains of PDI,
                     ERp72, ERp57 (or ERp60) and EFP1. PDI, ERp72 and ERp57 are
                     endoplasmic reticulum (ER)-resident eukaryotic proteins
                     involved in oxidative protein...; Region: PDI_a_PDI_a'_C;
                     cd02995"
                     /db_xref="CDD:48544"
     misc_feature    order(1386..1388,1395..1397,1578..1580)
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /note="catalytic residues [active]"
                     /db_xref="CDD:48544"
     misc_feature    1386..1388
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="alkylation site; modified site"
     misc_feature    1389..1391
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="Contributes to redox potential value (By
                     similarity); propagated from UniProtKB/Swiss-Prot
                     (P07237.3); other site"
     misc_feature    1392..1394
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="Contributes to redox potential value (By
                     similarity); propagated from UniProtKB/Swiss-Prot
                     (P07237.3); other site"
     misc_feature    1578..1580
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="Lowers pKa of C-terminal Cys of second active site
                     (By similarity); propagated from UniProtKB/Swiss-Prot
                     (P07237.3); other site"
     misc_feature    1710..1721
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P07237.3);
                     Region: Prevents secretion from ER"
     variation       285
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:11558886"
     exon            343..549
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:1.39.8"
     variation       467
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1049599"
     exon            550..683
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:1.39.8"
     exon            684..821
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:1.39.8"
     exon            822..926
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:1.39.8"
     variation       911
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2070871"
     exon            927..1052
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:1.39.8"
     exon            1053..1253
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:1.39.8"
     STS             1154..1276
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /standard_name="P4HB"
                     /db_xref="UniSTS:266732"
     STS             1155..1312
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /standard_name="MARC_24372-24373:1030120998:1"
                     /db_xref="UniSTS:268903"
     variation       1155
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11558879"
     exon            1254..1374
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:1.39.8"
     variation       1281
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:11558882"
     variation       1349
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11558881"
     exon            1375..1556
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:1.39.8"
     variation       1522
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:3210169"
     exon            1557..1643
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:1.39.8"
     variation       1562
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1130674"
     exon            1644..2578
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /inference="alignment:Splign:1.39.8"
     STS             1716..2128
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /standard_name="GDB:180947"
                     /db_xref="UniSTS:155139"
     STS             1856..1977
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /standard_name="RH47036"
                     /db_xref="UniSTS:69887"
     STS             1991..2275
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /standard_name="GDB:178579"
                     /db_xref="UniSTS:155031"
     variation       2105
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11558887"
     variation       2120
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1804510"
     STS             2265..2536
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /standard_name="RH80067"
                     /db_xref="UniSTS:92446"
     variation       2324
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /replace="a"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:8324"
     variation       2330
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:3210096"
     variation       2341
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1063472"
     variation       2509
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1050597"
     variation       2521
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1063495"
     polyA_signal    2553..2558
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
     polyA_site      2578
                     /gene="P4HB"
                     /gene_synonym="DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1;
                     PHDB; PO4DB; PO4HB; PROHB"
ORIGIN      
gagcctcgaagtccgccggccaatcgaaggcgggccccagcggcgcgtgcgcgccgcggccagcgcgcgcgggcgggggggcaggcgcgccccggacccaggatttataaaggcgaggccgggaccggcgcgcgctctcgtcgcccccgctgtcccggcggcgccaaccgaagcgccccgcctgatccgtgtccgacatgctgcgccgcgctctgctgtgcctggccgtggccgccctggtgcgcgccgacgcccccgaggaggaggaccacgtcctggtgctgcggaaaagcaacttcgcggaggcgctggcggcccacaagtacctgctggtggagttctatgccccttggtgtggccactgcaaggctctggcccctgagtatgccaaagccgctgggaagctgaaggcagaaggttccgagatcaggttggccaaggtggacgccacggaggagtctgacctggcccagcagtacggcgtgcgcggctatcccaccatcaagttcttcaggaatggagacacggcttcccccaaggaatatacagctggcagagaggctgatgacatcgtgaactggctgaagaagcgcacgggcccggctgccaccaccctgcctgacggcgcagctgcagagtccttggtggagtccagcgaggtggctgtcatcggcttcttcaaggacgtggagtcggactctgccaagcagtttttgcaggcagcagaggccatcgatgacataccatttgggatcacttccaacagtgacgtgttctccaaataccagctcgacaaagatggggttgtcctctttaagaagtttgatgaaggccggaacaactttgaaggggaggtcaccaaggagaacctgctggactttatcaaacacaaccagctgccccttgtcatcgagttcaccgagcagacagccccgaagatttttggaggtgaaatcaagactcacatcctgctgttcttgcccaagagtgtgtctgactatgacggcaaactgagcaacttcaaaacagcagccgagagcttcaagggcaagatcctgttcatcttcatcgacagcgaccacaccgacaaccagcgcatcctcgagttctttggcctgaagaaggaagagtgcccggccgtgcgcctcatcaccctggaggaggagatgaccaagtacaagcccgaatcggaggagctgacggcagagaggatcacagagttctgccaccgcttcctggagggcaaaatcaagccccacctgatgagccaggagctgccggaggactgggacaagcagcctgtcaaggtgcttgttgggaagaactttgaagacgtggcttttgatgagaaaaaaaacgtctttgtggagttctatgccccatggtgtggtcactgcaaacagttggctcccatttgggataaactgggagagacgtacaaggaccatgagaacatcgtcatcgccaagatggactcgactgccaacgaggtggaggccgtcaaagtgcacagcttccccacactcaagttctttcctgccagtgccgacaggacggtcattgattacaacggggaacgcacgctggatggttttaagaaattcctggagagcggtggccaggatggggcaggggatgatgacgatctcgaggacctggaagaagcagaggagccagacatggaggaagacgatgatcagaaagctgtgaaagatgaactgtaatacgcaaagccagacccgggcgctgccgagacccctcgggggctgcacacccagcagcagcgcacgcctccgaagcctgcggcctcgcttgaaggagggcgtcgccggaaacccagggaacctctctgaagtgacacctcacccctacacaccgtccgttcacccccgtctcttccttctgcttttcggtttttggaaagggatccatctccaggcagcccaccctggtggggcttgtttcctgaaaccatgatgtactttttcatacatgagtctgtccagagtgcttgctaccgtgttcggagtctcgctgcctccctcccgcgggaggtttctcctctttttgaaaattccgtctgtgggatttttagacatttttcgacatcagggtatttgttccaccttggccaggcctcctcggagaagcttgtcccccgtgtgggagggacggagccggactggacatggtcactcagtaccgcctgcagtgtcgccatgactgatcatggctcttgcatttttgggtaaatggagacttccggatcctgtcagggtgtcccccatgcctggaagaggagctggtggctgccagccctggggcccggcacaggcctgggccttccccttccctcaagccagggctcctcctcctgtcgtgggctcattgtgaccactggcctctctacagcacggcctgtggcctgttcaaggcagaaccacgacccttgactcccgggtggggaggtggccaaggatgctggagctgaatcagacgctgacagttcttcaggcatttctatttcacaatcgaattgaacacattggccaaataaagttgaaattttaccacctgtaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:5034 -> Molecular function: GO:0003756 [protein disulfide isomerase activity] evidence: IEA
            GeneID:5034 -> Molecular function: GO:0004656 [procollagen-proline 4-dioxygenase activity] evidence: IDA
            GeneID:5034 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:5034 -> Molecular function: GO:0009055 [electron carrier activity] evidence: IEA
            GeneID:5034 -> Molecular function: GO:0015035 [protein disulfide oxidoreductase activity] evidence: IEA
            GeneID:5034 -> Molecular function: GO:0046982 [protein heterodimerization activity] evidence: IEA
            GeneID:5034 -> Biological process: GO:0006457 [protein folding] evidence: TAS
            GeneID:5034 -> Biological process: GO:0006662 [glycerol ether metabolic process] evidence: IEA
            GeneID:5034 -> Biological process: GO:0018401 [peptidyl-proline hydroxylation to 4-hydroxy-L-proline] evidence: IDA
            GeneID:5034 -> Biological process: GO:0030198 [extracellular matrix organization] evidence: TAS
            GeneID:5034 -> Biological process: GO:0042157 [lipoprotein metabolic process] evidence: TAS
            GeneID:5034 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
            GeneID:5034 -> Biological process: GO:0045454 [cell redox homeostasis] evidence: IEA
            GeneID:5034 -> Cellular component: GO:0005576 [extracellular region] evidence: NAS
            GeneID:5034 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: IDA
            GeneID:5034 -> Cellular component: GO:0005788 [endoplasmic reticulum lumen] evidence: TAS
            GeneID:5034 -> Cellular component: GO:0005793 [endoplasmic reticulum-Golgi intermediate compartment] evidence: IDA
            GeneID:5034 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
            GeneID:5034 -> Cellular component: GO:0009986 [cell surface] evidence: IDA
            GeneID:5034 -> Cellular component: GO:0042470 [melanosome] evidence: IEA
ANNOTATIONS from NCBI Entrez Gene (20130726):
            NP_000909 -> EC 5.3.4.1

by @meso_cacase at DBCLS
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