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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

P4HB Gene

protein-coding GIFtS: 69
GCID: GC17M079801

prolyl 4-hydroxylase, beta polypeptide

(Previous names: procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline...)
(Previous symbols: PO4DB, ERBA2L)

Explore 48 diseases affiliated with
P4HB via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Prolyl 4-Hydroxylase, Beta Polypeptide¹ ²		P55¹
ERBA2L¹ ² ³		EC 5.3.4.1³ ⁸
PDI¹ ² ³		Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Beta Polypeptide (Protein Disulfide Isomerase-Associated 1)¹
PDIA1¹ ² ³		Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Beta Polypeptide (Protein Disulfide Isomerase; Thyroid Hormone Binding Protein P55)¹
PO4DB¹ ² ³		PHDB²
PROHB¹ ² ⁵		Collagen Prolyl 4-Hydroxylase Beta²
DSI¹ ²		Glutathione-Insulin Transhydrogenase²
GIT¹ ²		Protein Disulfide Isomerase Family A, Member 1²
P4Hbeta¹ ²		Protein Disulfide Isomerase-Associated 1²
PO4HB¹ ²		Protein Disulfide Isomerase/Oxidoreductase²
Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Beta Polypeptide¹ ²		Protein Disulfide-Isomerase²
Cellular Thyroid Hormone-Binding Protein² ³		Protocollagen Hydroxylase²
Prolyl 4-Hydroxylase Subunit Beta² ³		Thyroid Hormone-Binding Protein P55²

External Ids:	HGNC: 8548¹	Entrez Gene: 5034²	Ensembl: ENSG00000185624⁷	OMIM: 176790⁵	UniProtKB: P07237³

Export aliases for P4HB gene to outside databases

Previous GC identifers: GC17M079210 GC17M9I0021 GC17M080336 GC17M077394 GC17M075202

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for P4HB:

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)

UniProtKB/Swiss-Prot: PDIA1_HUMAN, P07237

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

Gene Wiki entry for P4HB

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010663.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the P4HB gene promoter:
HEN1 AP-1 CUTL1 C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: P4HB promoter sequence

Search SABiosciences Chromatin IP Primers for P4HB

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat P4HB

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25 Ensembl cytogenetic band: 17q25.3 HGNC cytogenetic band: 17q25

P4HB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
P4HB gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M079801: view genomic region (about GC identifiers)

Start:	79,801,034 bp from pter	End:	79,818,570 bp from pter
Size:	17,537 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PDIA1_HUMAN, P07237 (See protein sequence)

Recommended Name: Protein disulfide-isomerase precursor

Size: 508 amino acids; 57116 Da

Subunit: 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

Subcellular location: Endoplasmic reticulum lumen. Melanosome. Cell membrane; Peripheral membrane protein (Potential).

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

Miscellaneous: Reduces and may activate fusogenic properties of HIV-1 gp120 surface protein, thereby enabling HIV-1

entry into the cell

6/7 PDB 3D structures from and Proteopedia for P4HB (see all 7):

1BJX (3D)

1MEK (3D)

1X5C (3D)

2BJX (3D)

2K18 (3D)

3BJ5 (3D)

Secondary accessions: B2RDQ2 P30037 P32079 Q15205 Q6LDE5

Explore the universe of human proteins at neXtProt for P4HB: NX_P07237

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P07237

4/17 DME Specific Peptides for P4HB (P07237) (see all 17)

VIGFFKD

LVGKNFE

LAKVDATE

DDDLEDLE

P4HB Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000909.2

ENSEMBL proteins:

ENSP00000327801 ENSP00000459211 ENSP00000388117 ENSP00000461718 ENSP00000459832

ENSP00000388374 ENSP00000458300 ENSP00000460285 ENSP00000461362 ENSP00000460088

ENSP00000461791 ENSP00000460741 ENSP00000460612 ENSP00000442012

Reactome Protein details: P07237
Human Recombinant Protein Products:

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	R&D Systems Recombinant & Natural Proteins for P4HB (Protein Disulfide Isomerase/P4HB)
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	Novus Biologicals P4HB Proteins Novus Biologicals P4HB Lysates
	Sino Biological Recombinant Protein for P4HB
	ProSpec Recombinant Protein for P4HB
	Uscn Proteins for P4HB

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

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:0005792	microsome	--	--
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IDA	15308636

P4HB for ontologies About GeneDecksing

P4HB Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of P4HB
	R&D Systems Antibodies for P4HB (Protein Disulfide Isomerase/P4HB)
	Cell Signaling Technology (CST) Antibodies for P4HB (PDIA1)
	OriGene Antibodies: P4HB OriGene Custom Antibody Services for P4HB
	GenScript Superior Antibodies for P4HB
	Novus Biologicals P4HB Antibodies
	Abcam antibodies for P4HB
	Uscn Antibodies for P4HB
	ThermoFisher Antibody for P4HB

Assay Products for P4HB:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for P4HB
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for P4HB

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

P4HB for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR005746 Thioredoxin

IPR012336 Thioredoxin-like_fold

IPR005788 Disulphide_isomerase

IPR013766 Thioredoxin_domain

IPR017937 Thioredoxin_CS

Graphical View of Domain Structure for InterPro Entry P07237

ProtoNet protein and cluster: P07237

1 Blocks protein family: IPB006662 Thioredoxin type domain

UniProtKB/Swiss-Prot: PDIA1_HUMAN, P07237

Similarity: Belongs to the protein disulfide isomerase family

Similarity: Contains 2 thioredoxin domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: PDIA1_HUMAN, P07237

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

Catalytic activity: Catalyzes the rearrangement of -S-S- bonds in proteins

Genatlas biochemistry entry for P4HB:

prolyl-4-hydroxylase,beta polypeptide,same as PDI,THBP,heterodimerizing with P4HA,P4HA2

Enzyme Number (IUBMB): EC 5.3.4.1¹ ²

miRNA Products:		miRTarBase miRNAs that target P4HB: hsa-mir-210 (MIRT003155)

		OriGene 3'-UTR Clone: P4HB Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat P4HB
		8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate P4HB (see all 15):
		hsa-miR-124* hsa-miR-588 hsa-miR-188-5p hsa-miR-513a-3p hsa-miR-548k hsa-miR-499-3p hsa-miR-548s hsa-miR-4282

		SwitchGear 3'UTR luciferase reporter plasmid: P4HB 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for P4HB (see all 7) OriGene shRNA RFP: P4HB OriGene siRNA: P4HB
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat P4HB

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for P4HB

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for P4HB (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for P4HB (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: P4HB (NM_000918)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for P4HB
		Search LifeMap BioReagents cell lines for P4HB

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for P4HB

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003756	protein disulfide isomerase activity	IEA	--
GO:0004656	procollagen-proline 4-dioxygenase activity	IDA	7753822
GO:0005515	protein binding	IPI	17055437
GO:0009055	electron carrier activity	IEA	--
GO:0015035	protein disulfide oxidoreductase activity	IEA	--

P4HB for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for P4HB:

G0/1 arrest

Increased G1 DNA content

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Lipoprotein metabolism

	Lipoprotein metabolism	1.00			Lipid digestion, mobilization, and transport	0.56
	Chylomicron-mediated lipid transport	0.57

Collagen formation

	Collagen formation	1.00			Extracellular matrix organization	0.54
	Collagen biosynthesis and modifying enzymes	0.74

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

Protein processing in endoplasmic reticulum

Protein processing in endoplasmic reticulum

1.00

Translational Control

Translational Control

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Cell Signaling Technology (CST) Pathway for P4HB

Translational Control

5/8 Reactome Pathways for P4HB (see all 8)

	Extracellular matrix organization
	Collagen biosynthesis and modifying enzymes
	Lipid digestion, mobilization, and transport
	Metabolism
	Lipoprotein metabolism

1 Kegg Pathway (Kegg details for P4HB):

Protein processing in endoplasmic reticulum

P4HB for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for P4HB

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/114 Interacting proteins for P4HB (P07237^{1, 2, 3} ENSP00000327801⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 114)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ERO1L	Q96HE7²^,³, ENSP00000379042⁴	MINT-8075157 MINT-15901 MINT-8075141 I2D: score=3 STRING: ENSP00000379042
HM13	Q8TCT9²^,³, ENSP00000381237⁴	MINT-7718461 MINT-7718402 MINT-7718413 I2D: score=1 STRING: ENSP00000381237
PDIA3	P30101²^,³, ENSP00000300289⁴	MINT-7718424 MINT-4053260 I2D: score=1 STRING: ENSP00000300289
PRDX4	Q13162²^,³, ENSP00000368646⁴	MINT-8091005 MINT-8091054 I2D: score=1 STRING: ENSP00000368646
FEZ1	Q99689²^,³, ENSP00000278919⁴	MINT-63422 I2D: score=5 STRING: ENSP00000278919

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006457	protein folding	TAS	2846539
GO:0006629	lipid metabolic process	TAS	--
GO:0006662	glycerol ether metabolic process	IEA	--
GO:0018401	peptidyl-proline hydroxylation to 4-hydroxy-L-proline	IDA	7753822
GO:0030198	extracellular matrix organization	TAS	--

P4HB for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

P4HB for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for P4HB

10/290 HMDB Compounds for P4HB (see all 290) About this table

Compound	Synonyms	CAS #	PubMed Ids
Ascorbic acid	(+)-ascorbate (see all 140)	50-81-7	--
TG(10:0/10:0/10:0)[iso]	Tri-n-caprin (see all 17)	621-71-6	--
TG(12:0/12:0/12:0)	Triacylglycerol (see all 11)	--	--
TG(15:0/16:0/20:2(11Z,14Z))[iso6]	Tracylglycerol(15:0/16:0/20:2) (see all 15)	--	--
TG(15:0/16:0/20:3(8Z,11Z,14Z))[iso6]	TAG(15:0/16:0/20:3n6) (see all 16)	--	--
TG(15:0/16:0/20:4(5Z,8Z,11Z,14Z))[iso6]	TAG(15:0/16:0/20:4n6) (see all 15)	--	--
TG(15:0/18:0/18:2(9Z,12Z))[iso6]	TG(15:0/18:0/18:2w6) (see all 15)	--	--
TG(15:0/18:0/18:3(9Z,12Z,15Z))[iso6]	TAG(51:3) (see all 16)	--	--
TG(15:0/18:1(9Z)/16:0)[iso6]	Tracylglycerol(15:0/18:1w9/16:0) (see all 15)	--	--
TG(15:0/18:1(9Z)/16:1(9Z))[iso6]	TG(15:0/18:1/16:1) (see all 15)	--	--

1 DrugBank Compound for P4HB About this table

Compound	Synonyms	CAS #	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 (see all 8)	25546-65-0	target	--	11741285

10/82 Novoseek chemical compound relationships for P4HB gene (see all 82) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dithiol	73.7	11	2025221 (2), 16142915 (1), 12892495 (1), 7913469 (1) (see all 7)
dtnb	63.4	5	9834122 (1), 19366212 (1), 19091013 (1), 16507315 (1)
gssg	62.9	12	2025221 (2), 12485997 (2), 9034346 (1), 1988050 (1) (see all 7)
cysteine	61.2	36	17074504 (3), 20026073 (3), 10893409 (2), 8914835 (2) (see all 22)
glyceraldehyde 3-phosphate	54	19	11233170 (2), 11488911 (2), 9016829 (1), 11503214 (1) (see all 14)
gsno	50.6	9	15171728 (2), 19402212 (1), 15611098 (1), 17176252 (1) (see all 5)
tunicamycin	49.1	2	8645293 (1)
dehydroascorbic acid	48.3	14	19686035 (3), 7844111 (2), 8503862 (1), 7750794 (1) (see all 6)
dithiothreitol	48.1	6	11796709 (1), 10622730 (1), 2025221 (1), 8645293 (1) (see all 6)
cystamine	47	3	7530195 (1), 16914140 (1), 18618447 (1)

Search CenterWatch for drugs/clinical trials and news about P4HB / PDIA1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for P4HB gene:

NM_000918.3

Unigene Cluster for P4HB:

Prolyl 4-hydroxylase, beta polypeptide

Hs.464336 [show with all ESTs]

Unigene Representative Sequence: NM_000918

18/27 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):

ENST00000331483(uc002kbl.1 uc002kbm.1 uc002kbn.1) ENST00000575069

ENST00000415593 ENST00000576390 ENST00000575652 ENST00000473021 ENST00000571507

ENST00000476482 ENST00000439918 ENST00000571617 ENST00000474712 ENST00000478034

ENST00000576380 ENST00000477607 ENST00000472244 ENST00000570907 ENST00000573778

ENST00000484286

miRNA Products:		OriGene 3'-UTR Clone: P4HB Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat P4HB
		8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate P4HB (see all 15):
		hsa-miR-124* hsa-miR-588 hsa-miR-188-5p hsa-miR-513a-3p hsa-miR-548k hsa-miR-499-3p hsa-miR-548s hsa-miR-4282

		SwitchGear 3'UTR luciferase reporter plasmid: P4HB 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat P4HB

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for P4HB (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for P4HB (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: P4HB (NM_000918)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for P4HB
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat P4HB

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for P4HB Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat P4HB
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat P4HB

Additional cDNA sequence:

AB062434.1 AK075503.1 AK095938.1 AK128783.1 AK296206.1 AK297081.1 AK297967.1 AK298005.1

AK300561.1 AK308600.1 AK315631.1 AL357203.1 BC010859.1 BC014504.1 BC018801.1 BC029617.1

BC071892.1 J02783.1 X05130.1 X07077.1

24/77 DOTS entries (see all 77):

DT.101987380 DT.100889234 DT.92467925 DT.92021274 DT.86838770 DT.97863821 DT.100032508 DT.100889259

DT.92040529 DT.100889248 DT.120894726 DT.100889265 DT.95156962 DT.100889239 DT.120894734 DT.100889251

DT.120894629 DT.100889274 DT.100889246 DT.100889236 DT.97864700 DT.95157068 DT.100045570 DT.120894631

24/1967 AceView cDNA sequences (see all 1967):

AW675123 BQ956185 BQ952821 BE271561 BP357698 CD513875 CF139145 BP358353

BM704748 BU168605 BU164299 BE883357 BP354019 H45742 CB152522 BQ941498

CR602877 BP336247 CB216390 CF141669 BG697835 CA946820 BU177631 BU543804

GeneLoc Exon Structure

5/25 Alternative Splicing Database (ASD) splice patterns (SP) for P4HB (see all 25) About this scheme

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:													-		-		-		-		-		-										-		-		-		-		-		-

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:

ECgene alternative splicing isoforms for P4HB

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

P4HB expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCTGGAAGAG

About this image
See P4HB Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for P4HB

SOURCE GeneReport for Unigene cluster: Hs.464336

SABiosciences Expression via Pathway-Focused PCR Array including P4HB:

Hypoxia Signaling Pathway in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for P4HB gene from 9/37 species (see all 37) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	P4HB¹	prolyl 4-hydroxylase, beta polypeptide	78.86(n) 85.49(a)		374091 NM_001198710.1 NP_001185639.1
lizard (Anolis carolinensis)	Reptilia	P4HB⁶	--	80(a)	1 ↔ 1	2(118615559-118635304)
African clawed frog (Xenopus laevis)	Amphibia	BC046736.1²	--	77.66(n)		BC046736.1
zebrafish (Danio rerio)	Actinopterygii	Dr.29113²	Transcribed sequence with weak similarity to protein more	78.03(n)		BI890770.1
fruit fly (Drosophila melanogaster)	Insecta	Pdi^{1 , 3}	protein folding protein disulfide isomerase³ Protein disulfide isomerase¹	57(a)³ 63.48(n)¹ 55.51(a)¹		3 71B5³ 39651¹ NM_079355.2¹ NP_524079.1¹
worm (Caenorhabditis elegans)	Secernentea	pdi-2^{1 , 3}	Expression: hypodermal³ Protein PDI-2¹	58(a)³ 64.25(n)¹ 58.76(a)¹		X(4559522-4561487)³ 180724¹ NM_076377.2¹ NP_508778.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	PDI1¹	Pdi1p	46.71(n) 33.95(a)		850314 NP_009887.1
thale cress (Arabidopsis thaliana)	eudicotyledons	PDIL1-4¹	protein disulfide-isomerase A1	51.15(n) 41.09(a)		836185 NM_180903.3 NP_851234.1
rice (Oryza sativa)	Liliopsida	Os02g0100100¹	hypothetical protein	51.61(n) 40.22(a)		4327971 NM_001052114.1 NP_001045579.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for P4HB gene

PDIA4² ERP27² TMX3² DNAJC10² PDIA6² TXNDC5² PDIA2² PDIA3²

PDILT² PDIA5²

9 SIMAP similar genes for P4HB using alignment to 16 protein entries: PDIA1_HUMAN (see all proteins):

TMX3 PDIA2 PDIA5 TXN PDIA3 PDIA4

ERP27 PDILT TMX1

P4HB for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs144452510^1,2		--	79800621(+)	`TTATCA/GTGTGA`	1	--	ds500¹		0	--	--	--	--
rs145341317^1,2		--	79800647(+)	`CAGGGC/TCCCCT`	1	--	ds500¹		0	--	--	--	--
rs191767413^1,2		--	79800694(+)	`GATTTC/TTCGTC`	1	--	ds500¹		0	--	--	--	--
rs184605430^1,2		--	79800707(+)	`TCCACA/GGCGGG`	1	--	ds500¹		0	--	--	--	--
rs189777445^1,2		--	79800913(+)	`TGCACC/GTCGTC`	1	--	ds500¹		0	--	--	--	--
rs180973795^1,2		--	79800959(+)	`TAAGGC/TCTGGC`	1	--	ds500¹		0	--	--	--	--
rs184451575^1,2	C,	--	79801009(+)	`GCTTGG/TTGAGA`	1	--	ds500¹		0	--	--	--	--
rs1050597^1,2	F	--	79801103(-)	`CAGTTC/TTTCAG`	1	--	ut3¹ ese³		1		MN	184
rs149227300^1,2	C,	--	79801222(+)	`GTCACA/GATGAG`	1	--	ut3¹		0	--	--	--	--
rs190537631^1,2	C,	--	79801248(+)	`GGAGCA/CCTGGC`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for P4HB (79801034 - 79818570 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for P4HB
3 CNVs: 30036 73078 5041

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

P4HB for disorders           About GeneDecksing

OMIM gene information: 176790    OMIM disorders: --

20/48 diseases for P4HB (see all 48):    About MalaCards

thyroiditis retinol binding protein abetalipoproteinemia amyotrophic lateral sclerosis

oral squamous cell carcinoma lateral sclerosis squamous cell carcinoma diphtheria

pseudoachondroplasia congenital hypothyroidism chronic lymphocytic leukemia neurodegenerative disease

male breast cancer lymphocytic leukemia antiphospholipid syndrome insulin resistance

hypothyroidism brain ischemia ischemia fibrosarcoma

10/25 Novoseek disease relationships for P4HB gene (see all 25) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hepatitis halothane	64.6	3	8406360 (2), 8415876 (1)
abetalipoproteinemia	60.2	1	7782284 (1)
hypoxia ischemia brain	51.1	2	10744727 (1), 15147878 (1)
psach	39.9	2	11691584 (1), 16286662 (1)
shock	38.6	32	10079081 (1), 12748950 (1), 17067859 (1), 17996735 (1) (see all 26)
neurodegenerative diseases	32.9	1	17163772 (1)
erythroleukemia	18.1	3	9927500 (1)
cholera	12.6	1	19289469 (1)
fibrosarcoma	6.19	4	11206065 (1), 9891011 (1), 11493694 (1)
thrombosis	3.81	1	18759277 (1), 19294693 (1)

Human Genome Epidemiology (HuGE) Navigator: P4HB (3 documents)

Export disorders for P4HB gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for P4HB gene, integrated from 9 sources (see all 559):
(articles sorted by number of sources associating them with P4HB)

Utopia: connect your pdf to the dynamic
world of online information

Protein-disulfide isomerase (PDI) in FRTL5 cells. pH-dependent thyroglobulin/PDI interactions determine a novel PDI function in the post-endoplasmic reticulum of thyrocytes. (PubMed id 10636893)^{1, 2, 9} Mezghrani A....Miquelis R. (2000)
Is protein disulfide isomerase a redox-dependent molecular chaperone? (PubMed id 12485997)^{1, 2, 9} Lumb R.A. and Bulleid N.J. (2002)
Nuclear magnetic resonance characterization of the N-terminal thioredoxin-like domain of protein disulfide isomerase. (PubMed id 8580850)^{1, 2, 9} Kemmink J.... Creighton T.E. (1995)
The catalytic activity of protein disulfide isomerase is involved in human immunodeficiency virus envelope-mediated membrane fusion after CD4 cell binding. (PubMed id 11181151)^{1, 2, 9} Fenouillet E.... Miquelis R. (2001)
The structure in solution of the B domain of protein disulfide isomerase. (PubMed id 10383197)^{1, 2, 9} Kemmink J....Darby N.J. (1999)
Structure determination of the N-terminal thioredoxin-like domain of protein disulfide isomerase using multidimensional heteronuclear 13C/15N NMR spectroscopy. (PubMed id 8672469)^{1, 2, 9} Kemmink J.... Creighton T.E. (1996)
Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)^{1, 2} Chi A....Hunt D.F. (2006)
Glycosaminoglycans and protein disulfide isomerase-mediated reduction of HIV Env. (PubMed id 15644496)^{1, 2} Barbouche R.... Fenouillet E. (2005)
Protein disulfide isomerase. (PubMed id 15158710)^{1, 2} Wilkinson B. and Gilbert H.F. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5034	HGNC: 8548	AceView: P4HB	Ensembl:ENSG00000185624	euGenes: HUgn5034
ECgene: P4HB	Kegg: 5034	H-InvDB: P4HB

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for P4HB	Pharmacogenomics, SNPs, Pathways

Intellectual Property for P4HB gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for P4HB gene:
Search GeneIP for patents involving P4HB

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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P4HB Gene

prolyl 4-hydroxylase, beta polypeptide

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P4HB (Gene Symbol)
Prolyl 4-Hydroxylase, Beta Polypeptide
ERBA2L
PDI
PDIA1
PO4DB
PROHB
DSI
GIT
P4Hbeta
PO4HB
Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Beta Polypeptide
Cellular Thyroid Hormone-Binding Protein
Prolyl 4-Hydroxylase Subunit Beta
P55
EC 5.3.4.1
Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Beta Polypeptide (Protein Disulfide Isomerase-Associated 1)
Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Beta Polypeptide (Protein Disulfide Isomerase; Thyroid Hormone Binding Protein P55)
PHDB
Collagen Prolyl 4-Hydroxylase Beta
Glutathione-Insulin Transhydrogenase
Protein Disulfide Isomerase Family A, Member 1
Protein Disulfide Isomerase-Associated 1
Protein Disulfide Isomerase/Oxidoreductase
Protein Disulfide-Isomerase
Protocollagen Hydroxylase
Thyroid Hormone-Binding Protein P55

Neurodegenerative Diseases
Melanoma
Shock
Diphtheria
Malaria
HEPATITIS HALOTHANE
Abetalipoproteinemia
Erythroleukemia
Inflammation
Volvulus
PSACH
immunodeficiency
Alzheimers Disease
Ischemia
Breast Cancer
neurodegeneration
Tumors
Thrombosis
AIDS
Hypoxia Ischemia Brain
Necrosis
Cholera
Fibrosarcoma
cell damage
Cancer

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P4HB Gene

prolyl 4-hydroxylase, beta polypeptide

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