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

    Gene ID: 5034, updated on 17-Jun-2024

    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
    NEW
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    Genomic context

    See P4HB in Genome Data Viewer
    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_000017.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr17:79781934-79782157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79783828-79784461 Neighboring gene MAPK regulated corepressor interacting protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79789117-79789630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79789631-79790144 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79791171-79791684 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79792198-79792710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79792711-79793223 Neighboring gene protein phosphatase 1 regulatory subunit 27 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79813353-79813852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9154 Neighboring gene uncharacterized LOC124904086 Neighboring gene Sharpr-MPRA regulatory region 9355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12979 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79823980-79824608 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79825239-79825867 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79825868-79826497 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79826498-79827126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12983 Neighboring gene Rho GDP dissociation inhibitor alpha Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:79846281-79847480 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

    Gene Ontology Provided by GOA

    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 

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      B2RDQ2, P07237, P30037, P32079, Q15205, Q6LDE5
      UniProtKB/TrEMBL
      A0A024R8S5, B4DNL5
      Related
      ENSP00000327801.4, ENST00000331483.9
      Conserved Domains (1) summary
      TIGR01130
      Location:24474
      ER_PDI_fam; protein disulfide isomerase, eukaryotic

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      81843166..81860535 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      82710331..82727700 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)