Property Summary

NCBI Gene PubMed Count 92
PubMed Score 952.85
PubTator Score 305.65

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
lung adenocarcinoma 2714 1.87368069542749E-13
non-small cell lung cancer 2798 4.14568478077107E-13
ovarian cancer 8492 1.50626587105677E-8
ependymoma 2514 7.59394278831352E-7
malignant mesothelioma 3163 1.20056327485796E-6
medulloblastoma, large-cell 6234 4.92355986303551E-6
atypical teratoid / rhabdoid tumor 4369 6.52057736605704E-6
osteosarcoma 7933 1.52649716814165E-5
acute quadriplegic myopathy 1157 4.30346805067502E-5
pediatric high grade glioma 2712 2.3441313253914E-4
Multiple myeloma 1328 2.95336801820778E-4
lung cancer 4473 4.10069508565855E-4
glioblastoma 5572 5.7102971256775E-4
psoriasis 6685 7.40255630388522E-4
astrocytoma 1493 8.90103779850418E-4
group 4 medulloblastoma 1875 0.0012354314017761
pilocytic astrocytoma 3086 0.00156085987661226
primitive neuroectodermal tumor 3031 0.00184734444059663
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00198585788046566
pancreatic cancer 2300 0.00391914777111044
invasive ductal carcinoma 2950 0.00504939808130102
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.00559805022384662
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00756161504722384
pancreatic ductal adenocarcinoma liver metastasis 1795 0.0108468817448573
oligodendroglioma 2849 0.0110058887931873
diabetes mellitus 1663 0.0138199487643877
COPD 116 0.0147968287435403
pituitary cancer 1972 0.0198691275705942
Breast cancer 3099 0.0258801917069983
Disease Target Count Z-score Confidence
Craniosynostosis 47 0.0 4.0
Osteogenesis imperfecta 34 0.0 4.0

Expression

Synonym

Accession P07237 B2RDQ2 P30037 P32079 Q15205 Q6LDE5 PDI
Symbols DSI
GIT
PDI
PHDB
PDIA1
PO4DB
PO4HB
PROHB
CLCRP1
ERBA2L
P4Hbeta

Gene

PDB

1BJX   1MEK   1X5C   2BJX   2K18   3BJ5   3UEM   4EKZ   4EL1   4JU5  

  Ortholog (11)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG
Cow OMA EggNOG Inparanoid
Platypus OMA EggNOG
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid
C. elegans OMA Inparanoid

Gene RIF (29)

PMID Text
26869642 Amyotrophic lateral sclerosis-linked PDIA1 mutations disrupt motor neuron connectivity.
26670633 direct binding of PDIA1 to VWF, is reported.
26607804 the effect of the endoplasmic reticulum chaperone protein disulfide isomerase (PDI) on beta-cell dysfunction, was examined.
25683117 Cole-Carpenter syndrome is caused by a specific de novo mutation in P4HB that impairs the disulfide isomerase activity of protein disulfide isomerase.
25575667 Selective sequestration of PDI1A in a calcium depletion-mediated complex with the abundant chaperone calreticulin attenuates the effective concentration of this major lumenal thiol oxidant.
25258311 PDI has a role as a competent regulator and a specific substrate of Ero1alpha govern efficient and faithful oxidative protein folding and maintain the ER redox homeostasis
24549644 The crystal structure of the dimeric form of noncatalytic bb' domains of human PDIA1 determined to 2.3 A resolution revealed that the formation of dimers occludes the substrate binding site.
23874603 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of prolyl 4-hydroxylase, beta polypeptide (P4HB, PDIA1) expression by HIV-1 Vpr in Vpr transduced macrophages
23444257 Elevated P4HB expression is associated with temozolomide resistance in malignant glioma.
23337974 ). The results suggest that P4HB is a modifier gene inamyotrophic lateral sclerosis susceptibility and may represent a potential therapeutic target for amyotrophic lateral sclerosis .
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AA Sequence

MLRRALLCLAVAALVRADAPEEEDHVLVLRKSNFAEALAAHKYLLVEFYAPWCGHCKALAPEYAKAAGKL      1 - 70
KAEGSEIRLAKVDATEESDLAQQYGVRGYPTIKFFRNGDTASPKEYTAGREADDIVNWLKKRTGPAATTL     71 - 140
PDGAAAESLVESSEVAVIGFFKDVESDSAKQFLQAAEAIDDIPFGITSNSDVFSKYQLDKDGVVLFKKFD    141 - 210
EGRNNFEGEVTKENLLDFIKHNQLPLVIEFTEQTAPKIFGGEIKTHILLFLPKSVSDYDGKLSNFKTAAE    211 - 280
SFKGKILFIFIDSDHTDNQRILEFFGLKKEECPAVRLITLEEEMTKYKPESEELTAERITEFCHRFLEGK    281 - 350
IKPHLMSQELPEDWDKQPVKVLVGKNFEDVAFDEKKNVFVEFYAPWCGHCKQLAPIWDKLGETYKDHENI    351 - 420
VIAKMDSTANEVEAVKVHSFPTLKFFPASADRTVIDYNGERTLDGFKKFLESGGQDGAGDDDDLEDLEEA    421 - 490
EEPDMEEDDDQKAVKDEL                                                        491 - 508
//

Text Mined References (96)

PMID Year Title
26869642 2016 ALS-linked protein disulfide isomerase variants cause motor dysfunction.
26670633 2016 von Willebrand factor is dimerized by protein disulfide isomerase.
26607804 2016 Protein disulfide isomerase ameliorates ?-cell dysfunction in pancreatic islets overexpressing human islet amyloid polypeptide.
26224785 2015 Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal ?-Barrel in Microsomal Triglyceride Transfer Protein Function.
26091039 2015 A Single Kinase Generates the Majority of the Secreted Phosphoproteome.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25683117 2015 Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB.
25575667 2015 Retarded PDI diffusion and a reductive shift in poise of the calcium depleted endoplasmic reticulum.
25258311 2014 Different interaction modes for protein-disulfide isomerase (PDI) as an efficient regulator and a specific substrate of endoplasmic reticulum oxidoreductin-1? (Ero1?).
25108285 2014 Novel missense MTTP gene mutations causing abetalipoproteinemia.
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