Human Gene P4HB (ENST00000439918.6) Description and Page Index
  Description: Belongs to the protein disulfide isomerase family. (from UniProt H7BZ94)
RefSeq Summary (NM_000918): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.5600.1, HM005572.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000331483.9/ ENSP00000327801.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000439918.6
Gencode Gene: ENSG00000185624.15
Transcript (Including UTRs)
   Position: hg38 chr17:81,843,994-81,860,560 Size: 16,567 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr17:81,844,012-81,860,471 Size: 16,460 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr17:81,843,994-81,860,560)mRNA (may differ from genome)Protein (464 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
MGIPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: SubName: Full=Protein disulfide-isomerase;
SIMILARITY: Belongs to the protein disulfide isomerase family.
SIMILARITY: Contains 2 thioredoxin domains.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  MalaCards Disease Associations
  MalaCards Gene Search: P4HB
Diseases sorted by gene-association score: cole-carpenter syndrome 1* (1329), cole-carpenter syndrome* (395), abetalipoproteinemia (19), carpenter syndrome (19), multiple sulfatase deficiency (6), autosomal dominant nonsyndromic deafness 20 (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 764.07 RPKM in Pancreas
Total median expression: 8160.53 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -42.1089-0.473 Picture PostScript Text
3' UTR 0.00180.000 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005788 - Disulphide_isomerase
IPR005746 - Thioredoxin
IPR012336 - Thioredoxin-like_fold
IPR017937 - Thioredoxin_CS
IPR013766 - Thioredoxin_domain

Pfam Domains:
PF00085 - Thioredoxin

ModBase Predicted Comparative 3D Structure on H7BZ94
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016853 isomerase activity

Biological Process:
GO:0045454 cell redox homeostasis

Cellular Component:
GO:0005783 endoplasmic reticulum

-  Descriptions from all associated GenBank mRNAs
  HM005572 - Homo sapiens clone HTL-S-32 testicular secretory protein Li 32 mRNA, complete cds.
LF384827 - JP 2014500723-A/192330: Polycomb-Associated Non-Coding RNAs.
MA620404 - JP 2018138019-A/192330: Polycomb-Associated Non-Coding RNAs.
BC018801 - Homo sapiens prolyl 4-hydroxylase, beta polypeptide, mRNA (cDNA clone IMAGE:3607959).
AK128783 - Homo sapiens cDNA FLJ45462 fis, clone BRSTN2011961, highly similar to Protein disulfide-isomerase precursor (EC
E02164 - Human protein disulfideisomerase gene.
E03087 - cDNA encoding human protein disulfide isomerase(PDI).
BC010859 - Homo sapiens prolyl 4-hydroxylase, beta polypeptide, mRNA (cDNA clone MGC:9192 IMAGE:3879411), complete cds.
BC029617 - Homo sapiens prolyl 4-hydroxylase, beta polypeptide, mRNA (cDNA clone MGC:9695 IMAGE:3848651), complete cds.
J02783 - Human thyroid hormone binding protein (p55) mRNA, complete cds.
AK095938 - Homo sapiens cDNA FLJ38619 fis, clone HEART2007696, highly similar to Protein disulfide-isomerase precursor (EC
E06719 - cDNA encoding human protein disulfide isomerase.
BC014504 - Homo sapiens prolyl 4-hydroxylase, beta polypeptide, mRNA (cDNA clone IMAGE:4861217), partial cds.
BC071892 - Homo sapiens prolyl 4-hydroxylase, beta polypeptide, mRNA (cDNA clone MGC:88571 IMAGE:5443660), complete cds.
AB062434 - Homo sapiens mRNA for OK/SW-CL.24, complete cds.
AK075503 - Homo sapiens cDNA PSEC0201 fis, clone HEMBA1002107, highly similar to PROTEIN DISULFIDE ISOMERASE PRECURSOR (PDI) (EC
X07077 - Human mRNA for glutathione-insulin transhydrogenase (EC /
AK297081 - Homo sapiens cDNA FLJ59033 complete cds, highly similar to Protein disulfide-isomerase precursor (EC
AK297967 - Homo sapiens cDNA FLJ59361 complete cds, highly similar to Protein disulfide-isomerase precursor (EC
X05130 - Human mRNA for prolyl 4-hydoxylase beta subunit (EC (procollagen-L-proline, 2-oxoglutarate:oxygen oxidoreductase, 4-hydroxylating).
AK300561 - Homo sapiens cDNA FLJ59430 complete cds, highly similar to Protein disulfide-isomerase precursor (EC
AK315631 - Homo sapiens cDNA, FLJ96716, Homo sapiens procollagen-proline, 2-oxoglutarate 4-dioxygenase(proline 4-hydroxylase), beta polypeptide (protein disulfideisomerase; thyroid hormone binding protein p55) (P4HB), mRNA.
CU677027 - Synthetic construct Homo sapiens gateway clone IMAGE:100017989 5' read P4HB mRNA.
JF432204 - Synthetic construct Homo sapiens clone IMAGE:100073368 prolyl 4-hydroxylase, beta polypeptide (P4HB) gene, encodes complete protein.
KJ891744 - Synthetic construct Homo sapiens clone ccsbBroadEn_01138 P4HB gene, encodes complete protein.
KJ905847 - Synthetic construct Homo sapiens clone ccsbBroadEn_15517 P4HB gene, encodes complete protein.
E06720 - cDNA encoding hybrid protein which contains prepro fragment of human serum albumin and protein disulfide isomerase.
AB527806 - Synthetic construct DNA, clone: pF1KB5939, Homo sapiens P4HB gene for prolyl 4-hydroxylase, beta polypeptide, without stop codon, in Flexi system.
LF328594 - JP 2014500723-A/136097: Polycomb-Associated Non-Coding RNAs.
MA564171 - JP 2018138019-A/136097: Polycomb-Associated Non-Coding RNAs.
LP895361 - Sequence 225 from Patent EP3253886.
LF328595 - JP 2014500723-A/136098: Polycomb-Associated Non-Coding RNAs.
MA564172 - JP 2018138019-A/136098: Polycomb-Associated Non-Coding RNAs.
LF328596 - JP 2014500723-A/136099: Polycomb-Associated Non-Coding RNAs.
MA564173 - JP 2018138019-A/136099: Polycomb-Associated Non-Coding RNAs.
LF328597 - JP 2014500723-A/136100: Polycomb-Associated Non-Coding RNAs.
MA564174 - JP 2018138019-A/136100: Polycomb-Associated Non-Coding RNAs.
LF328598 - JP 2014500723-A/136101: Polycomb-Associated Non-Coding RNAs.
MA564175 - JP 2018138019-A/136101: Polycomb-Associated Non-Coding RNAs.
AK298005 - Homo sapiens cDNA FLJ59939 complete cds, highly similar to Protein disulfide-isomerase precursor (EC
AK308600 - Homo sapiens cDNA, FLJ98641.
LF328599 - JP 2014500723-A/136102: Polycomb-Associated Non-Coding RNAs.
MA564176 - JP 2018138019-A/136102: Polycomb-Associated Non-Coding RNAs.
CU688720 - Synthetic construct Homo sapiens gateway clone IMAGE:100019722 5' read P4HB mRNA.
LF328600 - JP 2014500723-A/136103: Polycomb-Associated Non-Coding RNAs.
MA564177 - JP 2018138019-A/136103: Polycomb-Associated Non-Coding RNAs.
LF328601 - JP 2014500723-A/136104: Polycomb-Associated Non-Coding RNAs.
MA564178 - JP 2018138019-A/136104: Polycomb-Associated Non-Coding RNAs.
AK296206 - Homo sapiens cDNA FLJ56766 complete cds, highly similar to Protein disulfide-isomerase precursor (EC5.3.4.1).
LF328602 - JP 2014500723-A/136105: Polycomb-Associated Non-Coding RNAs.
MA564179 - JP 2018138019-A/136105: Polycomb-Associated Non-Coding RNAs.
LF328603 - JP 2014500723-A/136106: Polycomb-Associated Non-Coding RNAs.
MA564180 - JP 2018138019-A/136106: Polycomb-Associated Non-Coding RNAs.
LF328604 - JP 2014500723-A/136107: Polycomb-Associated Non-Coding RNAs.
MA564181 - JP 2018138019-A/136107: Polycomb-Associated Non-Coding RNAs.
LF328606 - JP 2014500723-A/136109: Polycomb-Associated Non-Coding RNAs.
MA564183 - JP 2018138019-A/136109: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_hifPathway - Hypoxia-Inducible Factor in the Cardiovascular System
h_vitCBPathway - Vitamin C in the Brain

-  Other Names for This Gene
  Alternate Gene Symbols: H7BZ94, H7BZ94_HUMAN, HM005572, uc060loc.1
UCSC ID: uc060loc.1
RefSeq Accession: NM_000918
Protein: H7BZ94

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.