P3H1 - prolyl 3-hydroxylase 1 Gene

Also Known as OI8; GROS1; LEPRE1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64175

About P3H1

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:42,746,374-42,767,028 (from NCBI)

This gene has 14 transcripts (splice variants), 207 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in placenta (RPKM 18.9), testis (RPKM 10.8) and 24 other tissues.

Summary

This gene encodes an enzyme that is a member of the Collagen prolyl hydroxylase family. These Enzymes are localized to the endoplasmic reticulum and their activity is required for proper Collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]

P3H1 Products (3)

mRNA Protein Name
NM_001146289.2 NP_001139761.1 prolyl 3-hydroxylase 1 isoform 2 precursor
NM_001243246.2 NP_001230175.1 prolyl 3-hydroxylase 1 isoform 3 precursor
NM_022356.4 NP_071751.3 prolyl 3-hydroxylase 1 isoform 1 precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
30021884 GOA
Biological Process GO Annotation Evidence Références Source
involved in bone development IMP
IMP: Inferred from mutant phenotype
17277775 GOA
involved in negative regulation of post-translational protein modification IMP
IMP: Inferred from mutant phenotype
17277775 GOA
involved in protein folding IMP
IMP: Inferred from mutant phenotype
17277775 GOA
involved in protein hydroxylation IMP
IMP: Inferred from mutant phenotype
17277775 GOA
involved in protein stabilization IMP
IMP: Inferred from mutant phenotype
19846465 GOA
involved in regulation of protein secretion IMP
IMP: Inferred from mutant phenotype
17277775 GOA
Cellular Component GO Annotation Evidence Références Source
located in cytoplasm IDA
IDA: Inferred from direct assay
1095156 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
19846465 GOA
located in nucleus IDA
IDA: Inferred from direct assay
1095156 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

P3H1 Protein Structure

2OG-FeII_Oxy_3

2OG-FeII_Oxy_3: 2OG-Fe(II) oxygenase superfamily (576 - 677)

  • 0
  • 200
  • 400
  • 600
  • 736 a.a.
Protein Preferred Names Protein Names

prolyl 3-hydroxylase 1

  • growth suppressor 1

P3H1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
P3H1 Q32P28 CRTAP Homo sapiens O75718
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Osteogenesis Imperfecta, Type Viii

  • Osteogenesis Imperfecta Type 8

  • OI8

  • Osteogenesis Imperfecta Type Viii

  • Oi Type Viii

  • Oi, Type Viii

  • Osteogenesis Imperfecta 8

  • Oi-Viii
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 Iii

  • Osteogenesis Imperfecta Type Iii

  • OI3

  • Oi, Type Iii

  • Osteogenesis Imperfecta Type 3

  • Oi Type Iii

  • Oi Type 3

  • Progressive Deforming Osteogenesis Imperfecta

  • Severe Osteogenesis Imperfecta

  • Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae

  • Progressively Deforming Osteogenesis Imperfecta With Normal Sclera

  • Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae

  • Progressively Deforming Oi

  • Osteogenesis Imperfecta 3

  • Oi-Iii

  • Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae
Osteogenesis Imperfecta, Type Ii

  • Vrolik Type Of Osteogenesis Imperfecta

  • Osteogenesis Imperfecta Type 2

  • OI2

  • Oi, Type Ii

  • Osteogenesis Imperfecta Congenita

  • Oic

  • Osteogenesis Imperfecta Type Ii

  • Lethal Osteogenesis Imperfecta

  • Oi Type 2

  • Osteogenesis Imperfecta Congenita Perinatal Lethal Form

  • Osteogenesis Imperfecta Congenita, Perinatal Lethal Form

  • Perinatal Lethal Osteogenesis Imperfecta Congenita

  • Perinatally Lethal Oi

  • Osteogenesis Imperfecta 2

  • Oi-Ii

  • Oi-Iia

  • Oi Type Iia

  • Osteogenesis Imperfecta Type Iia

  • Osteogenesis Imperfecta Type Ii Autosomal Dominant

  • Oi Type Ii

  • Osteogenesis Imperfecta, Dominant Perinatal Lethal
Dentinogenesis Imperfecta

  • Hereditary Opalescent Dentin

  • Dentinogenesis Imperfecta Without Osteogenesis Imperfecta

  • Dgi

  • Capdepont Teeth

  • Dgi Without Oi

  • Di

  • Non-Syndromic Dgi

  • Non-Syndromic Dentinogenesis Imperfecta

  • Opalescent Teeth Without Oi

  • Opalescent Teeth Without Osteogenesis Imperfecta

  • Opalescent Dentin
Osteogenesis Imperfecta, Type Vii

  • Osteogenesis Imperfecta Type 7

  • Osteogenesis Imperfecta Type Vii

  • OI7

  • Oi Type Vii

  • Oi, Type Vii

  • Osteogenesis Imperfecta, Type Iib, Formerly

  • Oi2b, Formerly

  • Oi Type 7

  • Osteogenesis Imperfecta 7

  • Oi2b

  • Oi-Iib

  • Oi Type Iib

  • Oi-Vii

  • Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive

  • Osteogenesis Imperfecta Type Ii Autosomal Recessive

  • Osteogenesis Imperfecta Type Iib
Bruck Syndrome

  • Osteogenesis Imperfecta With Congenital Joint Contractures

  • Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome
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
Fibrogenesis Imperfecta Ossium

  • Baker'S Disease
Bone Development Disease
Osteogenesis Imperfecta, Type Xiv

  • Osteogenesis Imperfecta Type 14

  • OI14

  • Osteogenesis Imperfecta Type Xiv

  • Oi, Type Xiv

  • Osteogenesis Imperfecta 14

  • Oi Type Xiv

  • Oi-Xiv
Osteogenesis Imperfecta, Type Xv

  • Osteogenesis Imperfecta Type 15

  • OI15

  • Osteogenesis Imperfecta Type Xv

  • Oi, Type Xv

  • Osteogenesis Imperfecta 15

  • Oi Type Xv

  • Oi-Xv
Osteogenesis Imperfecta, Type Ix

  • Osteogenesis Imperfecta Type 9

  • Osteogenesis Imperfecta Type Ix

  • OI9

  • Oi Type Ix

  • Osteogenesis Imperfecta Sillence Type Ii/Iii Without Abnormality Of Type I Collagen

  • Oi, Type Ix

  • Oi 9

  • Osteogenesis Imperfecta 9

  • Oi-Ix
Osteogenesis Imperfecta, Type Xix

  • OI19

  • Osteogenesis Imperfecta Type 19

  • Osteogenesis Imperfecta Type Xix

  • Osteogenesis Imperfecta, Type 19

  • Osteogenesis Imperfecta 19
Ehlers-Danlos Syndrome, Classic Type, 1

  • Ehlers-Danlos Syndrome, Type I

  • EDSCL1

  • Ehlers-Danlos Syndrome Classic Type 1

  • Ehlers-Danlos Syndrome Type 1

  • Ehlers-Danlos Syndrome, Type I, Formerly

  • Eds1, Formerly

  • Ehlers-Danlos Syndrome, Severe Classic Type, Formerly

  • Eds I, Formerly

  • Ehlers-Danlos Syndrome, Gravis Type, Formerly

  • Ehlers-Danlos Syndrome, Type 1

  • Type I Ehlers-Danlos Syndrome

  • Eds1

  • Eds I

  • Ehlers-Danlos Syndrome, Gravis Type

  • Ehlers-Danlos Syndrome, Severe Classic Type

  • Ehlers-Danlos Syndrome 1

  • Ehlers-Danlos, Classic Syndrome, Type 1

  • Ehlers-Danlos Syndrome Type 2
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
Osteochondrodysplasia

  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv
Caffey Disease

  • Infantile Cortical Hyperostosis

  • CAFYD

  • Cortical Congenital Hyperostosis

  • Caffey-Silverman Syndrome

  • De Toni-Caffey Disease

  • Hyperostosis Cortical Infantile

  • Hyperostosis, Cortical, Congenital
Osteoporosis, Juvenile

  • Idiopathic Juvenile Osteoporosis

  • Idiopathic Osteoporosis

  • Juvenile Osteoporosis

  • Ijo
Osteogenesis Imperfecta, Type Iv

  • Osteogenesis Imperfecta Type 4

  • Osteogenesis Imperfecta Type Iv

  • OI4

  • Oi, Type Iv

  • Osteogenesis Imperfecta With Normal Sclerae

  • Oi Type Iv

  • Oi Type 4

  • Osteogenesis Imperfecta With Normal Sclera

  • Common Variable Oi With Normal Sclerae

  • Osteogenesis Imperfecta 4

  • Oi-Iv
Keratosis Follicularis Spinulosa Decalvans

  • Kfsd

  • Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi

  • Keratosis Follicularis Spinulosa Decalvans, X-Linked

  • Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Osteoporosis

  • Postmenopausal Osteoporosis

  • Osteoporosis, Postmenopausal

  • Bone Mineral Density Quantitative Trait Locus

  • Bmnd

  • Osteoporosis, Involutional

  • Osteoporosis, Susceptibility To

  • Osteoporosis, Postmenopausal, Susceptibility

  • Bone Mineral Density Variation Qtl, Osteoporosis

  • OSTEOP

  • Involutional Osteoporosis

  • Senile Osteoporosis

  • Osteoporosis Postmenopausal

  • Bone Mineral Density, Quantitative Trait Locus

  • Osteoporosis, Senile

  • Idiopathic Osteoporosis

  • Bone Rarefaction Nos

  • Type 1 Osteoporosis
Ehlers-Danlos Syndrome

  • Eds

  • Cutis Hyperelastica

  • Elastic Skin

  • Ehlers-Danlos Syndromes

  • Ed Syndrome

  • Ehlers Danlos Syndrome

  • Ehlers Danlos Disease

  • Eds - [Ehlers-Danlos Syndrome]
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-RS16280 FAM-labeled P3H1 Human Pre-designed siRNA Set A / Unkown
HY-RS09938 P3H1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20791 P3h1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27305 P3h1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus P3H1 RGD RGD:628823
Canis familiaris P3H1 VGNC VGNC:44219
Bos taurus P3H1 VGNC VGNC:32532
Macaca mulatta P3H1 VGNC VGNC:75648
Felis catus P3H1 VGNC VGNC:64013
Mus musculus P3H1 MGD MGI:1888921
Others P3H1 NCBI