P4HB prolyl 4-hydroxylase subunit beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: P4HBprovided by HGNC
Official Full Name: prolyl 4-hydroxylase subunit betaprovided by HGNC
Primary source: HGNC:HGNC:8548
See related: Ensembl:ENSG00000185624 MIM:176790; AllianceGenome:HGNC:8548
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DSI; GIT; PDI; PHDB; PDIA1; PO4DB; PO4HB; PROHB; CLCRP1; ERBA2L; P4Hbeta
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]
Expression: Ubiquitous expression in duodenum (RPKM 328.5), liver (RPKM 325.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (81843166..81860535, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (82710331..82727700, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (79801042..79818411, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exploring the Influence of Zinc Ions on the Conformational Stability and Activity of Protein Disulfide Isomerase.
Title: Exploring the Influence of Zinc Ions on the Conformational Stability and Activity of Protein Disulfide Isomerase.
ARID1A loss induces P4HB to activate fibroblasts to support lung cancer cell growth, invasion, and chemoresistance.
Title: ARID1A loss induces P4HB to activate fibroblasts to support lung cancer cell growth, invasion, and chemoresistance.
Circular RNA P4HB promotes glycolysis and tumor progression by binding with PKM2 in lung adenocarcinoma.
Title: Circular RNA P4HB promotes glycolysis and tumor progression by binding with PKM2 in lung adenocarcinoma.
MiR-204-5p regulates HUVEC cell inflammation and apoptosis by targeting P4HB.
Title: MiR-204-5p regulates HUVEC cell inflammation and apoptosis by targeting P4HB.
Establishment of prognostic model of bladder cancer based on apoptosis-related genes, in which P4HB promotes BLCA progression.
Title: Establishment of prognostic model of bladder cancer based on apoptosis-related genes, in which P4HB promotes BLCA progression.
A meta-analysis and bioinformatics analysis of P4HB expression levels in the prognosis of cancer patients.
Title: A meta-analysis and bioinformatics analysis of P4HB expression levels in the prognosis of cancer patients.
Protein disulfide isomerase A1 as a novel redox sensor in VEGFR2 signaling and angiogenesis.
Title: Protein disulfide isomerase A1 as a novel redox sensor in VEGFR2 signaling and angiogenesis.
A discovery-based proteomics approach identifies protein disulphide isomerase (PDIA1) as a biomarker of beta cell stress in type 1 diabetes.
Title: A discovery-based proteomics approach identifies protein disulphide isomerase (PDIA1) as a biomarker of β cell stress in type 1 diabetes.
ERO1-PDI Redox Signaling in Health and Disease.
Title: ERO1-PDI Redox Signaling in Health and Disease.
Extracellular vesicles derived from oesophageal cancer containing P4HB promote muscle wasting via regulating PHGDH/Bcl-2/caspase-3 pathway.
Title: Extracellular vesicles derived from oesophageal cancer containing P4HB promote muscle wasting via regulating PHGDH/Bcl-2/caspase-3 pathway.

Submit: New GeneRIF Correction See all GeneRIFs (59)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cole-Carpenter syndrome 1 MedGen: C4317154 OMIM: 112240 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	The disulfide cross-linking interaction between gp120 and PDI is enhanced by CD4 protein	PubMed
	env	PDI is predominantly involved in HIV-1 entry and infection of the T cell line PM-1 and PHA-stimulated primary T lymphocytes, suggesting the preferential use of PDI relevant to the HIV-1 entry and establishment of virus reservoirs in resting CD4+ cells	PubMed
	env	Protein-disulfide isomerase (PDI) cleaves disulfide bonds in recombinant HIV-1 envelope glycoprotein gp120, and gp120 bound to the surface receptor CD4 undergoes a disulfide reduction that is prevented by PDI inhibitors	PubMed
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 is identified to have a physical interaction with prolyl 4-hydroxylase, beta polypeptide (P4HB) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
	env	Treatment of trimeric HIV-1 rgp140 with protein disulfide isomerase yields monomers by disruption of the intermolecular disulfide bonds	PubMed
Rev	rev	HIV-1 Rev interacting protein, prolyl 4-hydroxylase, beta polypeptide (P4HB), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with P4HB is increased by RRE	PubMed
Vpr	vpr	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	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:180947 (e-PCR)
- UniSTS:155139

RH80067 (e-PCR)
- UniSTS:92446

MARC_24372-24373:1030120998:1 (e-PCR)
- UniSTS:268903

GDB:178579 (e-PCR)
- UniSTS:155031

GDB:271296 (e-PCR)
- UniSTS:156356

P4HB (e-PCR)
- UniSTS:266732

RH47036 (e-PCR)
- UniSTS:69887

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables actin binding	IPI Inferred from Physical Interaction more info	PubMed
enables enzyme binding	IEA Inferred from Electronic Annotation more info
enables integrin binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to procollagen-proline 4-dioxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein disulfide isomerase activity	EXP Inferred from Experiment more info	PubMed
enables protein disulfide isomerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein disulfide isomerase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein-disulfide reductase activity	EXP Inferred from Experiment more info	PubMed
enables protein-disulfide reductase activity	IDA Inferred from Direct Assay more info	PubMed
enables thiol oxidase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to interleukin-7	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IEA Inferred from Electronic Annotation more info
involved_in insulin processing	TAS Traceable Author Statement more info
involved_in interleukin-12-mediated signaling pathway	TAS Traceable Author Statement more info
involved_in interleukin-23-mediated signaling pathway	TAS Traceable Author Statement more info
acts_upstream_of_or_within peptidyl-proline hydroxylation to 4-hydroxy-L-proline	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of substrate adhesion-dependent cell spreading	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of viral entry into host cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein folding in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to endoplasmic reticulum stress	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
part_of endoplasmic reticulum chaperone complex	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in endoplasmic reticulum-Golgi intermediate compartment	IDA Inferred from Direct Assay more info
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in melanosome	IEA Inferred from Electronic Annotation more info
part_of procollagen-proline 4-dioxygenase complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein disulfide-isomerase

Names: cellular thyroid hormone-binding protein; collagen prolyl 4-hydroxylase beta; glutathione-insulin transhydrogenase; p55; procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide; prolyl 4-hydroxylase, beta polypeptide; protein disulfide isomerase family A, member 1; protein disulfide isomerase-associated 1; protein disulfide isomerase/oxidoreductase; protocollagen hydroxylase; testicular secretory protein Li 32; thyroid hormone-binding protein p55

NP_000909.2

EC 5.3.4.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.