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

Gene ID: 5034, updated on 3-May-2020

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
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

Genomic context

See P4HB in Genome Data Viewer
Location:
17q25.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (81843159..81860535, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79801034..79818566, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene MAPK regulated corepressor interacting protein 1 Neighboring gene protein phosphatase 1 regulatory subunit 27 Neighboring gene Rho GDP dissociation inhibitor alpha Neighboring gene Aly/REF export factor Neighboring gene anaphase promoting complex subunit 11

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
actin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enzyme binding IEA
Inferred from Electronic Annotation
more info
 
integrin binding IPI
Inferred from Physical Interaction
more info
PubMed 
peptide disulfide oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to procollagen-proline 4-dioxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein disulfide isomerase activity EXP
Inferred from Experiment
more info
PubMed 
protein disulfide isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein disulfide isomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell redox homeostasis IEA
Inferred from Electronic Annotation
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
cellular response to hypoxia IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to interleukin-7 IEA
Inferred from Electronic Annotation
more info
 
chylomicron assembly TAS
Traceable Author Statement
more info
 
interleukin-12-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-23-mediated signaling pathway TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of substrate adhesion-dependent cell spreading IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of viral entry into host cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein folding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of oxidative stress-induced intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to endoplasmic reticulum stress IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to endoplasmic reticulum stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
very-low-density lipoprotein particle assembly TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum chaperone complex IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
endoplasmic reticulum-Golgi intermediate compartment IDA
Inferred from Direct Assay
more info
PubMed 
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
focal adhesion HDA PubMed 
lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
melanosome IEA
Inferred from Electronic Annotation
more info
 
procollagen-proline 4-dioxygenase complex IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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
XP_024306545.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_042033.1 RefSeqGene

    Range
    5134..22503
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000918.4NP_000909.2  protein disulfide-isomerase precursor

    See identical proteins and their annotated locations for NP_000909.2

    Status: REVIEWED

    Source sequence(s)
    BC010859, DB466371
    Consensus CDS
    CCDS11787.1
    UniProtKB/Swiss-Prot
    P07237
    UniProtKB/TrEMBL
    A0A024R8S5
    Related
    ENSP00000327801.4, ENST00000331483.9
    Conserved Domains (1) summary
    TIGR01130
    Location:24474
    ER_PDI_fam; protein disulfide isomerase, eukaryotic

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    81843159..81860535 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450777.1XP_024306545.1  protein disulfide-isomerase isoform X1

    Conserved Domains (1) summary
    cl27119
    Location:24394
    YbbN; Negative regulator of GroEL, contains thioredoxin-like and TPR-like domains [Posttranslational modification, protein turnover, chaperones]

RNA

  1. XR_002958014.1 RNA Sequence

    Related
    ENST00000575069.5
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