P4HB - prolyl 4-hydroxylase subunit beta Gene

Also Known as DSI; GIT; PDI; PHDB; PDIA1; PO4DB; PO4HB; PROHB; CLCRP1; ERBA2L; P4Hbeta

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5034

About P4HB

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:81,843,166-81,860,535 (from NCBI)

This gene has 72 transcripts (splice variants), 215 orthologues, 13 paralogues and is associated with 4 phenotypes. Ubiquitous expression in duodenum (RPKM 328.5), liver (RPKM 325.1) and 25 other tissues.

Summary

This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex. [provided by RefSeq, Jul 2008]

P4HB Products (1)

mRNA	Protein	Name
NM_000918.4	NP_000909.2	protein disulfide-isomerase precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables actin binding	IPI IPI: Inferred from physical interaction	24415753	GOA
enables integrin binding	IPI IPI: Inferred from physical interaction	21670307	GOA
contributes to procollagen-proline 4-dioxygenase activity	IDA IDA: Inferred from direct assay	7753822	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12095988	GOA
enables protein disulfide isomerase activity	EXP EXP: Inferred from Experiment	15720785	GOA
enables protein disulfide isomerase activity	IDA IDA: Inferred from direct assay	15225124	GOA
enables protein heterodimerization activity	IDA IDA: Inferred from direct assay	23475612	GOA
enables protein-disulfide reductase activity	EXP EXP: Inferred from Experiment	21308844	GOA
enables protein-disulfide reductase activity	IDA IDA: Inferred from direct assay	16677074	GOA
enables thiol oxidase activity	IDA IDA: Inferred from direct assay	21091435	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in cellular response to hypoxia	IMP IMP: Inferred from mutant phenotype	12095988	GOA
acts upstream of or within peptidyl-proline hydroxylation to 4-hydroxy-L-proline	IDA IDA: Inferred from direct assay	7753822	GOA
involved in positive regulation of cell adhesion	IMP IMP: Inferred from mutant phenotype	24415753	GOA
involved in positive regulation of substrate adhesion-dependent cell spreading	IMP IMP: Inferred from mutant phenotype	24415753	GOA
involved in positive regulation of viral entry into host cell	IMP IMP: Inferred from mutant phenotype	21670307	GOA
involved in protein folding in endoplasmic reticulum	IDA IDA: Inferred from direct assay	21091435	GOA
involved in regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IMP IMP: Inferred from mutant phenotype	12095988	GOA
involved in response to endoplasmic reticulum stress	IMP IMP: Inferred from mutant phenotype	12095988	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in cytoskeleton	IDA IDA: Inferred from direct assay	24415753	GOA
located in cytosol	IDA IDA: Inferred from direct assay	24415753	GOA
is active in endoplasmic reticulum	IDA IDA: Inferred from direct assay	32149426	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	12095988	GOA
located in external side of plasma membrane	IDA IDA: Inferred from direct assay	21670307	GOA
located in lamellipodium	IDA IDA: Inferred from direct assay	24415753	GOA
part of procollagen-proline 4-dioxygenase complex	IDA IDA: Inferred from direct assay	7753822	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	24415753	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

P4HB Protein Structure

Thioredoxin

Thioredoxin_6

Thioredoxin

0
100
200
300
400
508 a.a.

Protein Preferred Names	Protein Names
protein disulfide-isomerase	cellular thyroid hormone-binding protein

P4HB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	P4HB	P07237	ODF1	Homo sapiens	Q14990	Validated Y2H	32296183
Intra	P4HB	P07237	LCE1B	Homo sapiens	Q5T7P3	Validated Y2H	32296183
Intra	P4HB	P07237	LCE4A	Homo sapiens	Q5TA78	Validated Y2H	32296183
Intra	P4HB	P07237	LCE2D	Homo sapiens	Q5TA82	Validated Y2H	32296183
Intra	P4HB	P07237	CAPN2	Homo sapiens	P17655	Validated Y2H	32814053
Intra	P4HB	P07237	CAPN2	Homo sapiens	P17655	Y2H Array	32814053
Intra	P4HB	P07237	CAPN2	Homo sapiens	P17655	Y2H Pooling	32814053
Intra	P4HB	P07237	KRTAP4-11	Homo sapiens	Q9BYQ6	Validated Y2H	32296183
Intra	P4HB	P07237	KLHL36	Homo sapiens	Q8N4N3-2	Validated Y2H	32814053
Intra	P4HB	P07237	KLHL36	Homo sapiens	Q8N4N3-2	Y2H Array	32814053
Intra	P4HB	P07237	KLHL36	Homo sapiens	Q8N4N3-2	Y2H Pooling	32814053
Intra	P4HB	P07237	SLC22A17	Homo sapiens	Q8WUG5	Y2H Pooling	32814053
Intra	P4HB	P07237	SLC22A17	Homo sapiens	Q8WUG5	Validated Y2H	32814053
Intra	P4HB	P07237	SLC22A17	Homo sapiens	Q8WUG5	Y2H Array	32814053
Intra	P4HB	P07237	LCN2	Homo sapiens	P80188	Y2H Prey Pooling	32296183
Intra	P4HB	P07237	LCN2	Homo sapiens	P80188	Validated Y2H	32296183
Intra	P4HB	P07237	LCN2	Homo sapiens	P80188	Y2H Array	32296183
Intra	P4HB	P07237	CFAP100	Homo sapiens	Q494V2-2	Validated Y2H	32814053
Intra	P4HB	P07237	CFAP100	Homo sapiens	Q494V2-2	Y2H Array	32814053
Intra	P4HB	P07237	CFAP100	Homo sapiens	Q494V2-2	Y2H Pooling	32814053
Intra	P4HB	P07237	KRTAP12-3	Homo sapiens	P60328	Validated Y2H	32296183
Intra	P4HB	P07237	KRTAP13-2	Homo sapiens	Q52LG2	Validated Y2H	32296183
Intra	P4HB	P07237	KRTAP9-8	Homo sapiens	Q9BYQ0	Validated Y2H	32296183
Intra	P4HB	P07237	NTM	Homo sapiens	Q9P121-3	Validated Y2H	32296183
Intra	P4HB	P07237	PLCXD3	Homo sapiens	Q63HM9	Validated Y2H	32296183
Intra	P4HB	P07237	ZNF69	Homo sapiens	Q9UC07-2	Y2H Array	32296183
Intra	P4HB	P07237	ZNF69	Homo sapiens	Q9UC07-2	Y2H Prey Pooling	32296183
Intra	P4HB	P07237	ZNF69	Homo sapiens	Q9UC07-2	Validated Y2H	32296183
Intra	P4HB	P07237	CHCHD2	Homo sapiens	Q9Y6H1	Validated Y2H	32296183
Intra	P4HB	P07237	ERO1A	Homo sapiens	Q96HE7	CoIP	10970843
Intra	P4HB	P07237	ERO1A	Homo sapiens	Q96HE7	Anti Bait CoIP	20802462
Intra	P4HB	P07237	HM13	Homo sapiens	Q8TCT9	Anti Bait CoIP	19942855
Intra	P4HB	P07237	P4HA2	Homo sapiens	O15460	Anti Tag CoIP	33961781
Intra	P4HB	P07237	GNB1	Homo sapiens	P62873	Validated Y2H	32814053
Intra	P4HB	P07237	GNB1	Homo sapiens	P62873	Y2H Array	32814053
Intra	P4HB	P07237	GNB1	Homo sapiens	P62873	Y2H Pooling	32814053
Intra	P4HB	P07237	KRTAP5-9	Homo sapiens	P26371	Validated Y2H	32296183
Intra	P4HB	P07237	RBBP4	Homo sapiens	Q09028	Validated Y2H	32814053
Intra	P4HB	P07237	RBBP4	Homo sapiens	Q09028	Y2H Array	32814053
Intra	P4HB	P07237	RBBP4	Homo sapiens	Q09028	Y2H Pooling	32814053
Intra	P4HB	P07237	NECTIN2	Homo sapiens	Q92692-2	Validated Y2H	32296183
Intra	P4HB	P07237	KRT6A	Homo sapiens	P02538	Validated Y2H	32814053
Intra	P4HB	P07237	KRT6A	Homo sapiens	P02538	Y2H Pooling	32814053
Intra	P4HB	P07237	KRT6A	Homo sapiens	P02538	Y2H Array	32814053
Intra	P4HB	P07237	KLHL42	Homo sapiens	Q9P2K6	Validated Y2H	32296183
Intra	P4HB	P07237	CNNM3	Homo sapiens	Q8NE01	Validated Y2H	32296183
Intra	P4HB	P07237	DDIT4L	Homo sapiens	Q96D03	Validated Y2H	32814053
Intra	P4HB	P07237	DDIT4L	Homo sapiens	Q96D03	Y2H Pooling	32814053
Intra	P4HB	P07237	DDIT4L	Homo sapiens	Q96D03	Y2H Array	32814053
Intra	P4HB	P07237	TAP1	Homo sapiens	Q03518	Anti Bait CoIP	17055437
Intra	P4HB	P07237	GRN	Homo sapiens	P28799	Validated Y2H	32296183
Intra	P4HB	P07237	GARIN6	Homo sapiens	Q8NEG0	Validated Y2H	32296183
Intra	P4HB	P07237	LRFN4	Homo sapiens	Q6PJG9	Validated Y2H	32296183
Intra	P4HB	P07237	FZD10	Homo sapiens	Q9ULW2	Validated Y2H	32296183
Intra	P4HB	P07237	CST2	Homo sapiens	P09228	Validated Y2H	32296183
Cross	P4HB	P07237	q2gl86_anapz	Anaplasma phagocytophilum	Q2GL86	Y2H	31992623

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant P4HB Proteins

Cat. No.	Nom du produit	Accession	Pureté
HY-P71087	P4HB Protein, Human (HEK293, His)	P07237 (D18-K505)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P71917	P4HB Protein, Human (His)	P07237 (A19-L508)	≥ 95%, as determined by reducing SDS-PAGE.

P4HB Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P81758	P4HB Antibody (YA1503)	WB, IHC-F, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P81758A	P4HB Antibody (YA1503)(PBS only)	WB, IHC-F, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P83984	P4HB Antibody (YA3681)	WB, IHC-P, FC, ELISA	Human
HY-P83984A	P4HB Antibody (YA3681)(PBS only)	WB, IHC-P, FC, ELISA	Human
HY-P83985	P4HB Antibody (YA3682)	WB, IHC-P, ICC/IF, FC, ELISA	Human
HY-P83985A	P4HB Antibody (YA3682)(PBS only)	WB, IHC-P, ICC/IF, FC, ELISA	Human
HY-P86343	P4HB Antibody (YA6035)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Cole-Carpenter Syndrome 1	CLCRP1 Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features Cole-Carpenter Syndrome, Type 1
Cole-Carpenter Syndrome	Cole Carpenter Syndrome Bone Fragility Craniosynostosis Proptosis Hydrocephalus Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome
Osteogenesis Imperfecta, Type I	Osteogenesis Imperfecta Type I OI1 Oi, Type I Osteogenesis Imperfecta Tarda Osteogenesis Imperfecta With Blue Sclerae Osteogenesis Imperfecta Type 1 Adair-Dighton Syndrome Mild Osteogenesis Imperfecta Non-Deforming Osteogenesis Imperfecta Oi Type 1 Van Der Hoeve Syndrome Classic Non-Deforming Oi With Blue Sclerae Osteogenesis Imperfecta 1 Oi-I Osteopenic Non-Fracture Syndrome Osteogenesis Imperfecta, Mild Osteogenesis Imperfecta Lobstein'S Disease
Abetalipoproteinemia	Acanthocytosis ABL Bassen-Kornzweig Syndrome Mtp Deficiency Familial Hypobetalipoproteinemia Abetalipoproteinaemia Microsomal Triglyceride Transfer Protein Deficiency Microsomal Triglyceride Transfer Protein Deficiency Disease Abetalipoproteinemia Neuropathy Apolipoprotein B Deficiency Bassen-Kornzweig Disease Betalipoprotein Deficiency Disease Congenital Betalipoprotein Deficiency Syndrome Homozygous Familial Hypobetalipoproteinemia Fhbl Bassen Kornzweig Syndrome Hypobetalipoproteinemia, Familial Hypobetalipoproteinemia Hypobetalipoproteinemias Hypobetalipoproteinemia, Familial, Apolipoprotein B
Halothane Hepatitis	Hepatitis Halothane
Pseudoachondroplasia	PSACH Pseudoachondroplastic Dysplasia Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome Spondyloepiphyseal Dysplasia, Pseudoachondroplastic Pseudoachondroplastic Spondyloepiphyseal Dysplasia Spondyloepiphyseal Dysplasia Pseudoachondroplastic
Carpenter Syndrome 1	Carpenter Syndrome Acrocephalopolysyndactyly Type Ii Acps Ii CRPT1 Acrocephalopolysyndactyly Type 2 Acrocephalosyndactyly, Type Ii Acrocephalopolysyndactyly 2 Acps2 Acps 2 Type Ii Acrocephalosyndactyly Carpenter Syndrome, Type 1 Apert-Crouzon Disease
Cholera	Vibrio Cholerae Infection Cholera - Vibrio Cholerae Cholera Due To Vibrio Cholerae Vibrio Cholerae Cholera Syndrome Asiatic Cholera Epidemic Cholera
Hypobetalipoproteinemia, Familial, 1	Hypobetalipoproteinemia Familial Hypobetalipoproteinemia 1 Familial Hypobetalipoproteinemia FHBL1 Hypobetalipoproteinemia, Familial Fhbl Acanthocytosis With Hypobetalipoproteinemia Hypobetalipoproteinemias Hypobetalipoproteinemia, Normotriglyceridemic Hypo-Beta-Lipoproteinemia Hypobetalipoprotéinemia, Familial Normotriglyceridemic Hypobetalipoproteinemia Hypobetalipoproteinemia, Familial, Type 1
Maxillary Sinus Inverted Papilloma	Inverted Papilloma Of The Maxillary Sinus
Maxillary Sinus Benign Neoplasm	Neoplasm Of Maxillary Sinus Tumor Of Maxillofacial Sinus Maxillary Sinus Neoplasms Maxillary Sinus Neoplasm
Microcephaly 7, Primary, Autosomal Recessive	MCPH7 Primary Autosomal Recessive Microcephaly 7 Microcephaly, Primary Autosomal Recessive, 7
Outlet Dysfunction Constipation
Congenital Hypothyroidism	Cretinism Neonatal Hypothyroidism Ch Cht Congenital Myxedema Myxedema, Congenital Endemic Cretinism Congenital Iodine-Deficiency Syndrome Fetal Iodine Deficiency Syndrome Congenital Iodine-Deficiency Hypothyroidism Nos
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
Cutis Laxa	Generalized Elastolysis Loose Skin Dermatolysis Dermatomegaly Cutis Laxa Syndrome
Cortical Deafness
Retinitis Pigmentosa 61	RP61 Retinitis Pigmentosa, Type 61
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like Scd-Eds EDSSPD3 Ehlers-Danlos Syndrome Spondylodysplastic Type 3 Ehlers-Danlos Syndrome, Spondylocheirodysplastic Type Slc39a13-Related Spondylodysplastic Ehlers-Danlos Syndrome Slc39a13-Related Speds Slc39a13-Related Spondylodysplastic Eds Spondylocheirodysplastic Ehlers-Danlos Syndrome Speds-Slc39a13 Ehlers-Danlos Syndrome-Like Spondylocheirodysplasia Ehlers-Danlos Syndrome, Spondylodysplastic, Type 3
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Osteogenesis Imperfecta, Type Xi	Osteogenesis Imperfecta Type 11 OI11 Osteogenesis Imperfecta Type Xi Oi, Type Xi Osteogenesis Imperfecta 11 Oi Type Xi Oi-Xi
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS09945	P4HB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18780	P4hb Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-176936	Tau-aggregation-IN-5	Inhibitor	/	Unkown
HY-RS25269	P4hb Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	P4HB	VGNC	VGNC:44225
Mus musculus	P4HB	MGD	MGI:97464
Bos taurus	P4HB	VGNC	VGNC:32538
Felis catus	P4HB	VGNC	VGNC:68678
Macaca mulatta	P4HB	VGNC	VGNC:75743
Rattus norvegicus	P4HB	RGD	RGD:3244
Others	P4HB	NCBI