Free for academic non-profit institutions. Other users need a Commercial license

Aliases for P4HB Gene

Aliases for P4HB Gene

  • Prolyl 4-Hydroxylase, Beta Polypeptide 2 3
  • Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Beta Polypeptide 2 3
  • Protein Disulfide Isomerase-Associated 1 2 3
  • Cellular Thyroid Hormone-Binding Protein 3 4
  • Thyroid Hormone-Binding Protein P55 3 6
  • Collagen Prolyl 4-Hydroxylase Beta 2 3
  • Prolyl 4-Hydroxylase Subunit Beta 3 4
  • EC 5.3.4.1 4 63
  • ERBA2L 3 4
  • PO4DB 3 4
  • PDIA1 3 4
  • P55 3 4
  • PDI 3 4
  • Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Beta Polypeptide (Protein Disulfide Isomerase; Thyroid Hormone Binding Protein P55) 2
  • Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Beta Polypeptide (Protein Disulfide Isomerase-Associated 1) 2
  • Protein Disulfide Isomerase Family A, Member 1 3
  • Protein Disulfide Isomerase/Oxidoreductase 3
  • Protein Disulfide Isomerase Family A 2
  • Glutathione-Insulin Transhydrogenase 3
  • Protein Disulfide-Isomerase 3
  • Protocollagen Hydroxylase 3
  • Member 1 2
  • P4Hbeta 3
  • CLCRP1 3
  • PO4HB 3
  • PROHB 3
  • PHDB 3
  • DSI 3
  • GIT 3

External Ids for P4HB Gene

Previous HGNC Symbols for P4HB Gene

  • PO4DB
  • ERBA2L

Previous GeneCards Identifiers for P4HB Gene

  • GC17M079210
  • GC17M9I0021
  • GC17M080336
  • GC17M077394
  • GC17M079801
  • GC17M075202

Summaries for P4HB Gene

Entrez Gene Summary for P4HB Gene

  • 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]

GeneCards Summary for P4HB Gene

P4HB (Prolyl 4-Hydroxylase, Beta Polypeptide) is a Protein Coding gene. Diseases associated with P4HB include pseudoachondroplasia and malaria. Among its related pathways are Degradation of the extracellular matrix and Metabolism. GO annotations related to this gene include protein heterodimerization activity and protein disulfide oxidoreductase activity. An important paralog of this gene is PDIA3.

UniProtKB/Swiss-Prot for P4HB Gene

  • This multifunctional protein catalyzes the formation, breakage and rearrangement of disulfide bonds. At the cell surface, seems to act as a reductase that cleaves disulfide bonds of proteins attached to the cell. May therefore cause structural modifications of exofacial proteins. Inside the cell, seems to form/rearrange disulfide bonds of nascent proteins. At high concentrations, functions as a chaperone that inhibits aggregation of misfolded proteins. At low concentrations, facilitates aggregation (anti-chaperone activity). May be involved with other chaperones in the structural modification of the TG precursor in hormone biogenesis. Also acts a structural subunit of various enzymes such as prolyl 4-hydroxylase and microsomal triacylglycerol transfer protein MTTP.

Gene Wiki entry for P4HB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for P4HB Gene

Genomics for P4HB Gene

Regulatory Elements for P4HB Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for P4HB Gene

Start:
81,843,158 bp from pter
End:
81,860,694 bp from pter
Size:
17,537 bases
Orientation:
Minus strand

Genomic View for P4HB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for P4HB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for P4HB Gene

Proteins for P4HB Gene

  • Protein details for P4HB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07237-PDIA1_HUMAN
    Recommended name:
    Protein disulfide-isomerase
    Protein Accession:
    P07237
    Secondary Accessions:
    • B2RDQ2
    • P30037
    • P32079
    • Q15205
    • Q6LDE5

    Protein attributes for P4HB Gene

    Size:
    508 amino acids
    Molecular mass:
    57116 Da
    Quaternary structure:
    • Homodimer. Monomers and homotetramers may also occur. Also constitutes the structural subunit of prolyl 4-hydroxylase and of the microsomal triacylglycerol transfer protein MTTP in mammalian cells. Stabilizes both enzymes and retain them in the ER without contributing to the catalytic activity (By similarity). Binds UBQLN1. Binds to CD4, and upon HIV-1 binding to the cell membrane, is part of a P4HB/PDI-CD4-CXCR4-gp120 complex.
    Miscellaneous:
    • Reduces and may activate fusogenic properties of HIV-1 gp120 surface protein, thereby enabling HIV-1 entry into the cell

    Three dimensional structures from OCA and Proteopedia for P4HB Gene

neXtProt entry for P4HB Gene

Proteomics data for P4HB Gene at MOPED

Post-translational modifications for P4HB Gene

  • Ubiquitination at Lys81, Lys103, Lys200, Lys222, Lys271, Lys375, and Lys444
  • Glycosylation at Thr442
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for P4HB (Protein Disulfide Isomerase/P4HB)
  • Cell Signaling Technology (CST) Antibodies for P4HB (PDIA1)

Domains for P4HB Gene

Gene Families for P4HB Gene

HGNC:
  • PDI :Protein disulfide isomerases

Graphical View of Domain Structure for InterPro Entry

P07237

UniProtKB/Swiss-Prot:

PDIA1_HUMAN :
  • P07237
Domain:
  • Contains 2 thioredoxin domains.
Family:
  • Belongs to the protein disulfide isomerase family.
genes like me logo Genes that share domains with P4HB: view

Function for P4HB Gene

Molecular function for P4HB Gene

GENATLAS Biochemistry: prolyl-4-hydroxylase,beta polypeptide,same as PDI,THBP,heterodimerizing with P4HA,P4HA2
UniProtKB/Swiss-Prot CatalyticActivity: Catalyzes the rearrangement of -S-S- bonds in proteins
UniProtKB/Swiss-Prot Function: This multifunctional protein catalyzes the formation, breakage and rearrangement of disulfide bonds. At the cell surface, seems to act as a reductase that cleaves disulfide bonds of proteins attached to the cell. May therefore cause structural modifications of exofacial proteins. Inside the cell, seems to form/rearrange disulfide bonds of nascent proteins. At high concentrations, functions as a chaperone that inhibits aggregation of misfolded proteins. At low concentrations, facilitates aggregation (anti-chaperone activity). May be involved with other chaperones in the structural modification of the TG precursor in hormone biogenesis. Also acts a structural subunit of various enzymes such as prolyl 4-hydroxylase and microsomal triacylglycerol transfer protein MTTP.

Enzyme Numbers (IUBMB) for P4HB Gene

Gene Ontology (GO) - Molecular Function for P4HB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003756 protein disulfide isomerase activity IDA 15225124
GO:0004175 endopeptidase activity TAS --
GO:0004656 contributes_to procollagen-proline 4-dioxygenase activity IDA 7753822
GO:0005509 calcium ion binding --
GO:0005515 protein binding IPI 12095988
genes like me logo Genes that share ontologies with P4HB: view

Phenotypes for P4HB Gene

MGI mutant phenotypes for P4HB:
inferred from 2 alleles
GenomeRNAi human phenotypes for P4HB:
genes like me logo Genes that share phenotypes with P4HB: view

Animal Models for P4HB Gene

MGI Knock Outs for P4HB:

Animal Model Products

CRISPR Products

No data available for Transcription Factor Targeting and HOMER Transcription for P4HB Gene

Localization for P4HB Gene

Subcellular locations from UniProtKB/Swiss-Prot for P4HB Gene

Endoplasmic reticulum lumen. Melanosome. Cell membrane; Peripheral membrane protein. Note=Highly abundant. In some cell types, seems to be also secreted or associated with the plasma membrane, where it undergoes constant shedding and replacement from intracellular sources (Probable). Localizes near CD4-enriched regions on lymphoid cell surfaces. Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for P4HB Gene COMPARTMENTS Subcellular localization image for P4HB gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
plasma membrane 5
cytoskeleton 2
cytosol 2
golgi apparatus 2
chloroplast 1
lysosome 1
mitochondrion 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for P4HB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 14718574
GO:0005783 endoplasmic reticulum IDA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA 15308636
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with P4HB: view

Pathways for P4HB Gene

genes like me logo Genes that share pathways with P4HB: view

Pathways by source for P4HB Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for P4HB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000302 response to reactive oxygen species TAS --
GO:0006457 protein folding IBA --
GO:0006508 proteolysis TAS --
GO:0008152 metabolic process --
GO:0018401 peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA 7753822
genes like me logo Genes that share ontologies with P4HB: view

Compounds for P4HB Gene

(290) HMDB Compounds for P4HB Gene

Compound Synonyms Cas Number PubMed IDs
Ascorbic acid
  • (+)-ascorbate
50-81-7
TG(10:0/10:0/10:0)[iso]
  • Tri-n-caprin
621-71-6
TG(12:0/12:0/12:0)
  • Triacylglycerol
Not Available
TG(15:0/16:0/20:2(11Z,14Z))[iso6]
  • Tracylglycerol(15:0/16:0/20:2)
Not Available
TG(15:0/16:0/20:3(8Z,11Z,14Z))[iso6]
  • TAG(15:0/16:0/20:3n6)
Not Available

(1) Drugbank Compounds for P4HB Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Ribostamycin
  • 5-Amino-2-Aminomethyl-6-[4,6-Diamino-2-(3,4-Dihydroxy-5-Hydroxymethyl-Tetrahydro-Furan-2-Yloxy)-3-Hydroxy-Cyclohexyloxy]-Tetrahydro-Pyran-3,4-Diol
25546-65-0 target

(82) Novoseek inferred chemical compound relationships for P4HB Gene

Compound -log(P) Hits PubMed IDs
dithiol 73.7 8
dtnb 63.4 4
gssg 62.9 9
cysteine 61.2 30
glyceraldehyde 3-phosphate 54 16
genes like me logo Genes that share compounds with P4HB: view

Transcripts for P4HB Gene

Unigene Clusters for P4HB Gene

Prolyl 4-hydroxylase, beta polypeptide:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for P4HB

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for P4HB Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d · 8e ^
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - - -
SP4:
SP5: - - - - - - - - - - - -
SP6: - - - - - - - - - -
SP7: - - - - - - - - - - -
SP8: - - - - - - - -
SP9: -
SP10: - - - - - - - -
SP11: - - - - - - - - - - - - - - - - -
SP12:
SP13: - - - - - - - - -
SP14: - - - - - - - - - - -
SP15: - - - - - - - - - - - - - - -
SP16: - - - - - - - -
SP17:
SP18: - - - - - - - - - - - -
SP19: - - - - - -
SP20: - - - - - - - - - - - - - - - - - -
SP21: - - -
SP22: - - - - - - - - - - - -
SP23:
SP24: -
SP25: -

ExUns: 9a · 9b · 9c · 9d · 9e ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c · 12d ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: - -
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20: - - - - - - - - - - - - - - - - - - - -
SP21:
SP22: - - - - - - - - - - - - - - - -
SP23:
SP24:
SP25:

Relevant External Links for P4HB Gene

GeneLoc Exon Structure for
P4HB
ECgene alternative splicing isoforms for
P4HB

Expression for P4HB Gene

mRNA expression in normal human tissues for P4HB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for P4HB Gene

This gene is overexpressed in Pancreas (6.8) and Liver (5.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for P4HB Gene

SOURCE GeneReport for Unigene cluster for P4HB Gene Hs.464336

genes like me logo Genes that share expressions with P4HB: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for P4HB Gene

Orthologs for P4HB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for P4HB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia P4HB 35
  • 99.28 (n)
  • 99.61 (a)
P4HB 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia P4HB 35
  • 89.84 (n)
  • 95.73 (a)
P4HB 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia P4HB 35
  • 88.62 (n)
  • 93.87 (a)
P4HB 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia P4hb 35
  • 87.07 (n)
  • 94.99 (a)
P4hb 16
P4hb 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia P4HB 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia P4HB 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia P4hb 35
  • 86.97 (n)
  • 94.76 (a)
chicken
(Gallus gallus)
Aves P4HB 35
  • 79.93 (n)
  • 87.03 (a)
P4HB 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia P4HB 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia p4hb 35
  • 71.75 (n)
  • 79.52 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.29113 35
p4hb 35
  • 70.67 (n)
  • 76.64 (a)
p4hb 36
  • 71 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012407 35
  • 61.05 (n)
  • 56.54 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pdi 35
  • 64.07 (n)
  • 57.02 (a)
Pdi 36
  • 54 (a)
OneToMany
Pdi 37
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea M04D5.1 36
  • 26 (a)
ManyToMany
pdi-1 36
  • 43 (a)
ManyToMany
pdi-2 35
  • 64.45 (n)
  • 59.42 (a)
pdi-2 36
  • 57 (a)
ManyToMany
pdi-2 37
  • 58 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR718W 35
  • 49.04 (n)
  • 34.87 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDI1 35
  • 48.27 (n)
  • 34.87 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C01111g 35
  • 46.64 (n)
  • 36.24 (a)
soybean
(Glycine max)
eudicotyledons Gma.2350 35
thale cress
(Arabidopsis thaliana)
eudicotyledons PDIL1-4 35
  • 52.62 (n)
  • 42.14 (a)
rice
(Oryza sativa)
Liliopsida Os02g0100100 35
  • 51.61 (n)
  • 40.22 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09223 35
  • 51.42 (n)
  • 36.49 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1F5.02 35
  • 47.99 (n)
  • 36.64 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11000 36
  • 51 (a)
OneToMany
Species with no ortholog for P4HB:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for P4HB Gene

ENSEMBL:
Gene Tree for P4HB (if available)
TreeFam:
Gene Tree for P4HB (if available)

Paralogs for P4HB Gene

Paralogs for P4HB Gene

genes like me logo Genes that share paralogs with P4HB: view

Variants for P4HB Gene

Sequence variations from dbSNP and Humsavar for P4HB Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs8324 -- 81,843,412(-) CTGGG(C/G/T)CCCGG utr-variant-3-prime
rs876016 -- 81,852,587(+) ACCTG(A/G)GCCAC intron-variant
rs876017 -- 81,852,766(+) CTCCC(A/G)GCCTT intron-variant
rs1010954 -- 81,859,129(+) AAGTC(A/G)GCAGG intron-variant
rs1049599 -- 81,859,263(-) GACCT(A/G)GCCCA synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for P4HB Gene

Variant ID Type Subtype PubMed ID
nsv909052 CNV Loss 21882294
nsv428351 CNV Gain 18775914
dgv3330n71 CNV Loss 21882294
dgv3332n71 CNV Loss 21882294
nsv470620 CNV Loss 18288195
dgv3333n71 CNV Loss 21882294
nsv909134 CNV Loss 21882294
esv21913 CNV Gain+Loss 19812545
nsv909128 CNV Gain+Loss 21882294
nsv833569 CNV Loss 17160897
dgv3337n71 CNV Loss 21882294
esv2666696 CNV Deletion 23128226
dgv3338n71 CNV Loss 21882294
dgv3339n71 CNV Loss 21882294

Relevant External Links for P4HB Gene

HapMap Linkage Disequilibrium report
P4HB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for P4HB Gene

Disorders for P4HB Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for P4HB Gene including...

Search for P4HB Gene in MalaCards »

(1) University of Copenhagen DISEASES for P4HB Gene

(25) Novoseek inferred disease relationships for P4HB Gene

Disease -log(P) Hits PubMed IDs
hepatitis halothane 64.6 3
abetalipoproteinemia 60.2 1
hypoxia ischemia brain 51.1 2
psach 39.9 2
shock 38.6 26

Relevant External Links for P4HB

Genetic Association Database (GAD)
P4HB
Human Genome Epidemiology (HuGE) Navigator
P4HB
genes like me logo Genes that share disorders with P4HB: view

No data available for UniProtKB/Swiss-Prot for P4HB Gene

Publications for P4HB Gene

  1. Nuclear magnetic resonance characterization of the N-terminal thioredoxin-like domain of protein disulfide isomerase. (PMID: 8580850) Kemmink J. … Creighton T.E. (Protein Sci. 1995) 3 4 23
  2. Protein-disulfide isomerase (PDI) in FRTL5 cells. pH-dependent thyroglobulin/PDI interactions determine a novel PDI function in the post-endoplasmic reticulum of thyrocytes. (PMID: 10636893) Mezghrani A. … Miquelis R. (J. Biol. Chem. 2000) 3 4 23
  3. The catalytic activity of protein disulfide isomerase is involved in human immunodeficiency virus envelope-mediated membrane fusion after CD4 cell binding. (PMID: 11181151) Fenouillet E. … Miquelis R. (J. Infect. Dis. 2001) 3 4 23
  4. Is protein disulfide isomerase a redox-dependent molecular chaperone? (PMID: 12485997) Lumb R.A. … Bulleid N.J. (EMBO J. 2002) 3 4 23
  5. Characterization of the S-denitrosation activity of protein disulfide isomerase. (PMID: 15611098) Sliskovic I. … Mutus B. (J. Biol. Chem. 2005) 3 23

Products for P4HB Gene

  • Addgene plasmids for P4HB

Sources for P4HB Gene

Back to Top

Content