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Aliases for P4HB Gene

Aliases for P4HB Gene

  • Prolyl 4-Hydroxylase Subunit Beta 2 3 4 5
  • Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Beta Polypeptide 2 3
  • Protein Disulfide Isomerase Family A, Member 1 2 3
  • Protein Disulfide Isomerase-Associated 1 2 3
  • Cellular Thyroid Hormone-Binding Protein 3 4
  • Prolyl 4-Hydroxylase, Beta Polypeptide 2 3
  • Collagen Prolyl 4-Hydroxylase Beta 2 3
  • EC 5.3.4.1 4 58
  • 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/Oxidoreductase 3
  • Glutathione-Insulin Transhydrogenase 3
  • Thyroid Hormone-Binding Protein P55 3
  • Testicular Secretory Protein Li 32 3
  • Protein Disulfide-Isomerase 3
  • Protocollagen Hydroxylase 3
  • 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 Subunit Beta) is a Protein Coding gene. Diseases associated with P4HB include Cole-Carpenter Syndrome 1 and Cole-Carpenter Syndrome. Among its related pathways are Protein processing in endoplasmic reticulum and Metabolism. GO annotations related to this gene include poly(A) RNA binding and protein heterodimerization activity. An important paralog of this gene is PDIA2.

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. Receptor for LGALS9; the interaction retains P4HB at the cell surface of Th2 T helper cells, increasing disulfide reductase activity at the plasma membrane, altering the plasma membrane redox state and enhancing cell migration (PubMed:21670307).

Gene Wiki entry for P4HB Gene

Additional gene information for P4HB Gene

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

Genomics for P4HB Gene

Regulatory Elements for P4HB Gene

Enhancers for P4HB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H081857 1.7 Ensembl ENCODE dbSUPER 11.9 +0.1 76 6 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 CEP131 HGS ALYREF TBCD FOXK2 LOC105371942 ACTG1 P4HB TEPSIN ENSG00000262877
GH17H081831 1.6 Ensembl ENCODE dbSUPER 11.5 +27.3 27258 4 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 TBCD OGFOD3 ENSG00000263321 P4HB NPLOC4 RFNG FAAP100 HEXDC GCGR C17orf62
GH17H081864 1.4 ENCODE dbSUPER 11.4 -8.3 -8250 8 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC PPARGC1A SSRP1 TBCD FAAP100 HGS ENSG00000265678 ENSG00000260563 NARF-IT1 TEPSIN CEP131 ENSG00000262652 CSNK1D
GH17H081839 1.3 Ensembl ENCODE dbSUPER 11.5 +18.7 18716 4 TBP KLF1 FOXA2 SAP130 MAX CCNT2 ZNF121 ZFHX2 MTA3 POLR2A P4HB GCGR C17orf62 ENSG00000262831 PPP1R27
GH17H081884 1.1 ENCODE dbSUPER 12.7 -25.3 -25314 3 TBP PKNOX1 SIN3A RFX5 ZNF121 SCRT2 FOS ATF7 USF2 CEBPB P4HB SIRT7 MAFG PYCR1 ENSG00000235296 MYADML2 GC17P081887 GC17P081881
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around P4HB on UCSC Golden Path with GeneCards custom track

Genomic Location for P4HB Gene

Chromosome:
17
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

Genes around P4HB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
P4HB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • Heterodimer; heterodimerizes with the protein microsomal triglyceride transfer MTTP (PubMed:23475612, PubMed:26224785). 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 (PubMed:12095988). Interacts with ERO1B (PubMed:11707400). 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

Selected DME Specific Peptides for P4HB Gene

P07237:
  • DDIPFGITSNS
  • LVEFYAPWCGHCK
  • VIGFFKD
  • FKGKILFIFIDSDH
  • LAKVDATE
  • LVGKNFE
  • LEDLEEAEEPD
  • FLEGKIKPHLMSQ
  • GVRGYPTIKFF
  • EEDDDQKAV
  • KSNFAEALAAH
  • APWCGHCKALAP
  • DDDLEDLE
  • NQLPLVIEFTEQTAPKIFGGEIKTHILLFLPKSVSDY
  • GFKKFLESGGQDGA
  • VVLFKKFDEGR
  • KNVFVEFYAPWCGHCKQLAPIWDKLGETY

Post-translational modifications for P4HB Gene

  • Ubiquitination at posLast=8181, Lys103, Lys200, posLast=222222, posLast=271271, Lys375, and Lys444
  • Glycosylation at posLast=442442
  • Modification sites at PhosphoSitePlus

Antibody Products

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

Protein Products

Domains & Families for P4HB Gene

Gene Families for P4HB Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P07237

UniProtKB/Swiss-Prot:

PDIA1_HUMAN :
  • Belongs to the protein disulfide isomerase family.
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. Receptor for LGALS9; the interaction retains P4HB at the cell surface of Th2 T helper cells, increasing disulfide reductase activity at the plasma membrane, altering the plasma membrane redox state and enhancing cell migration (PubMed:21670307).

Enzyme Numbers (IUBMB) for P4HB Gene

Gene Ontology (GO) - Molecular Function for P4HB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0003756 protein disulfide isomerase activity IDA,TAS 15225124
GO:0004656 contributes_to procollagen-proline 4-dioxygenase activity IDA 7753822
GO:0005178 integrin binding IPI 21670307
GO:0005515 protein binding IPI 10970843
genes like me logo Genes that share ontologies with P4HB: view
genes like me logo Genes that share phenotypes with P4HB: view

Human Phenotype Ontology for P4HB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for P4HB Gene

MGI Knock Outs for P4HB:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for P4HB
  • Applied Biological Materials Clones for P4HB
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for P4HB Gene

Localization for P4HB Gene

Subcellular locations from UniProtKB/Swiss-Prot for P4HB Gene

Endoplasmic reticulum. 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 (PubMed:11181151). Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:10636893). Colocalizes with MTTP in the endoplasmic reticulum (PubMed:23475612). {ECO:0000269 PubMed:10636893, ECO:0000269 PubMed:11181151, ECO:0000269 PubMed:23475612, ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for P4HB gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
golgi apparatus 2
lysosome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for P4HB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 14718574
GO:0005623 cell IEA --
GO:0005783 endoplasmic reticulum IDA 12095988
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA 15308636
genes like me logo Genes that share ontologies with P4HB: view

Pathways & Interactions for P4HB Gene

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

Pathways by source for P4HB Gene

Gene Ontology (GO) - Biological Process for P4HB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding IBA --
GO:0018401 peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA 7753822
GO:0034378 chylomicron assembly TAS --
GO:0034379 very-low-density lipoprotein particle assembly TAS --
GO:0034599 cellular response to oxidative stress TAS --
genes like me logo Genes that share ontologies with P4HB: view

No data available for SIGNOR curated interactions for P4HB Gene

Drugs & Compounds for P4HB Gene

(46) Drugs for P4HB Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma Target 188
Vitamin C Approved Nutra 560,560
Ribostamycin Approved Pharma Target 0
Zinc Approved Pharma Target 2359
Glyceryl Trioleate Investigational Pharma 0

(44) Additional Compounds for P4HB Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Triglycerides Group A
  • 1-Palmitoyl-2-palmitoyl-3-stearoyl-glycerol
  • TAG(16:0/16:0/18:0)
  • TAG(50:0)
  • TG(16:0/16:0/18:0)
  • TG(50:0)
Triglycerides Group B
  • 1-Myristoyl-2-myristoyl-3-arachidonyl-glycerol
  • 1-Tetradecanoyl-2-tetradecanoyl-3-eicosanoyl-glycerol
  • TAG(14:0/14:0/20:0)
  • TAG(48:0)
  • TG(48:0)
555-45-3, 30719-27-8, 2190-24-1, 18641-57-1, 56933-26-7
Triglycerides Group C
  • 1,2, 3-Propanetriyl-Decanoate
  • 1,2, 3-Propanetriyl-Decanoic acid
  • 2,3-Bis(decanoyloxy)propyl decanoate
  • 2,3-Bis(decanoyloxy)propyl decanoate (ACD/Name 4.0)
  • 2,3-Bis(decanoyloxy)propyl decanoic acid
621-71-6, 555-44-2, 30773-83-2
Triglycerides Group D
  • 1-Stearoyl-2-stearoyl-3-stearoyl-glycerol
  • TAG(18:0/18:0/18:0)
  • TAG(54:0)
  • TG(18:0/18:0/18:0)
  • TG(54:0)

(1) ApexBio Compounds for P4HB Gene

Compound Action Cas Number
DMOG Competitive HIF-PH inhibitor, cell-permeable 89464-63-1
genes like me logo Genes that share compounds with P4HB: view

Drug Products

Transcripts for P4HB Gene

Unigene Clusters for P4HB Gene

Prolyl 4-hydroxylase, beta polypeptide:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for P4HB
  • Applied Biological Materials Clones for P4HB
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x6.8) and Liver (x5.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for P4HB Gene



Protein tissue co-expression partners for P4HB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of P4HB Gene:

P4HB

SOURCE GeneReport for Unigene cluster for P4HB Gene:

Hs.464336

Evidence on tissue expression from TISSUES for P4HB Gene

  • Intestine(5)
  • Liver(5)
  • Lung(5)
  • Skin(5)
  • Nervous system(5)
  • Kidney(4.9)
  • Blood(4.8)
  • Pancreas(4.7)
  • Spleen(4.6)
  • Stomach(4.6)
  • Eye(4.1)
  • Thyroid gland(4)
  • Heart(3.9)
  • Muscle(3.6)
  • Bone(2.9)
  • Bone marrow(2.9)
  • Adrenal gland(2.5)
  • Lymph node(2.3)
  • Gall bladder(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for P4HB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with P4HB: view

Primer Products

No data available for Protein differential expression in normal tissues and 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 33 34
  • 99.28 (n)
cow
(Bos Taurus)
Mammalia P4HB 33 34
  • 89.84 (n)
dog
(Canis familiaris)
Mammalia P4HB 33 34
  • 88.62 (n)
mouse
(Mus musculus)
Mammalia P4hb 33 16 34
  • 87.07 (n)
oppossum
(Monodelphis domestica)
Mammalia P4HB 34
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia P4hb 33
  • 86.97 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia P4HB 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves P4HB 33 34
  • 79.93 (n)
lizard
(Anolis carolinensis)
Reptilia P4HB 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia p4hb 33
  • 71.75 (n)
zebrafish
(Danio rerio)
Actinopterygii p4hb 33 34
  • 70.67 (n)
Dr.29113 33
fruit fly
(Drosophila melanogaster)
Insecta Pdi 33 34 35
  • 64.07 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012407 33
  • 61.05 (n)
worm
(Caenorhabditis elegans)
Secernentea pdi-2 34 33 35
  • 64.45 (n)
ManyToMany
pdi-1 34
  • 43 (a)
ManyToMany
M04D5.1 34
  • 26 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR718W 33
  • 49.04 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDI1 33
  • 48.27 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C01111g 33
  • 46.64 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons PDIL1-4 33
  • 52.62 (n)
soybean
(Glycine max)
eudicotyledons Gma.2350 33
rice
(Oryza sativa)
Liliopsida Os02g0100100 33
  • 51.61 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU09223 33
  • 51.42 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11000 34
  • 51 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1F5.02 33
  • 47.99 (n)
Species where no ortholog for P4HB was found in the sources mined by GeneCards:
  • 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

Variants for P4HB Gene

Sequence variations from dbSNP and Humsavar for P4HB Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs786204843 Pathogenic, Cole-Carpenter syndrome 1 (CLCRP1) [MIM:112240] 81,845,742(-) TTCAG(A/G)TGCCC reference, missense
rs1000183609 -- 81,854,814(+) TCCAG(C/T)ATGGG intron-variant
rs1000192969 -- 81,857,921(+) TGCAA(A/C)CCTGA intron-variant
rs1000234519 -- 81,855,136(+) GGGCC(A/G)CTCAC intron-variant
rs1000258567 -- 81,860,598(+) CCGCC(-/CGCGCGCGCTGGCCGCGG)CGCGC upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv21913 CNV gain+loss 19812545
esv2666696 CNV deletion 23128226
esv3641407 CNV gain 21293372
nsv428351 CNV gain 18775914
nsv470620 CNV loss 18288195
nsv833569 CNV loss 17160897
nsv952390 CNV deletion 24416366

Variation tolerance for P4HB Gene

Residual Variation Intolerance Score: 27.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.97; 20.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for P4HB Gene

Human Gene Mutation Database (HGMD)
P4HB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
P4HB

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

Disorders for P4HB Gene

MalaCards: The human disease database

(6) MalaCards diseases for P4HB Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cole-carpenter syndrome 1
  • bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features
cole-carpenter syndrome
  • cole carpenter syndrome
abetalipoproteinemia
  • familial hypobetalipoproteinemia
carpenter syndrome
  • acrocephalopolysyndactyly type ii
multiple sulfatase deficiency
  • mucosulfatidosis
- elite association - COSMIC cancer census association via MalaCards
Search P4HB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PDIA1_HUMAN
  • Cole-Carpenter syndrome 1 (CLCRP1) [MIM:112240]: A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP1 inheritance is autosomal dominant. {ECO:0000269 PubMed:25683117}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for P4HB

Genetic Association Database (GAD)
P4HB
Human Genome Epidemiology (HuGE) Navigator
P4HB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
P4HB
genes like me logo Genes that share disorders with P4HB: view

No data available for Genatlas for P4HB Gene

Publications for P4HB Gene

  1. Is protein disulfide isomerase a redox-dependent molecular chaperone? (PMID: 12485997) Lumb RA … Bulleid NJ (The EMBO journal 2002) 3 4 22 60
  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 (The Journal of biological chemistry 2000) 3 4 22 60
  3. Nuclear magnetic resonance characterization of the N-terminal thioredoxin-like domain of protein disulfide isomerase. (PMID: 8580850) Kemmink J … Creighton TE (Protein science : a publication of the Protein Society 1995) 3 4 22 60
  4. Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. (PMID: 25683117) Rauch F … Moffatt P (American journal of human genetics 2015) 3 4 60
  5. Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function. (PMID: 26224785) Walsh MT … Hussain MM (Circulation. Cardiovascular genetics 2015) 3 4 60

Products for P4HB Gene

  • Addgene plasmids for P4HB

Sources for P4HB Gene