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2025-05-09 16:37:24, 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 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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