2. Gene
  3. P3H1 - prolyl 3-hydroxylase 1 Gene

P3H1 - prolyl 3-hydroxylase 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as OI8; GROS1; LEPRE1

Gene ID: 64175 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
30021884 GOA
Biological Process GO Annotation Evidence Reference 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 Reference 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

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS09938 P3H1 Human Pre-designed siRNA Set A Pre-designed Sets / 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