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Aliases for P3H1 Gene

Aliases for P3H1 Gene

  • Prolyl 3-Hydroxylase 1 2 3 5
  • Growth Suppressor 1 2 3 4
  • Leucine Proline-Enriched Proteoglycan (Leprecan) 1 2 3
  • Leucine- And Proline-Enriched Proteoglycan 1 3 4
  • Procollagen-Proline 3-Dioxygenase 2 3
  • EC 4 61
  • LEPRE1 3 4
  • GROS1 3 4
  • Leprecan-1 4
  • Leprecan 3
  • OI8 3

External Ids for P3H1 Gene

Previous HGNC Symbols for P3H1 Gene

  • LEPRE1

Summaries for P3H1 Gene

Entrez Gene Summary for P3H1 Gene

  • 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]

GeneCards Summary for P3H1 Gene

P3H1 (Prolyl 3-Hydroxylase 1) is a Protein Coding gene. Diseases associated with P3H1 include Osteogenesis Imperfecta, Type Viii and Osteogenesis Imperfecta, Type Ii. Among its related pathways are Collagen chain trimerization and Degradation of the extracellular matrix. GO annotations related to this gene include oxidoreductase activity and iron ion binding. An important paralog of this gene is P3H2.

UniProtKB/Swiss-Prot for P3H1 Gene

  • Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for P3H1 Gene

Genomics for P3H1 Gene

Regulatory Elements for P3H1 Gene

Enhancers for P3H1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G042824 1.3 ENCODE dbSUPER 10.1 -58.3 -58260 2.0 HDGF PKNOX1 ATF1 CREB3L1 ARNT SIN3A E2F7 TCF12 ZNF766 ELK1 ENSG00000228192 ZNF691 P3H1 C1orf50 SVBP SZT2
GH01G042339 0.9 ENCODE 10.3 +426.7 426678 2.1 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 FOS TSHZ1 ZNF579 MBD2 MIER3 ZMYND12 P3H1 RNU6-536P ENSG00000236180 PPCS GUCA2B PPIH YBX1 CCDC30 ENSG00000227527
GH01G042720 0.5 ENCODE 18.5 +46.0 45995 0.7 SOX13 TFAP4 HNF1A P3H1 PPIH YBX1 GC01P042719 CLDN19
GH01G042815 1.1 ENCODE 7.7 -50.0 -49975 2.5 HDGF PKNOX1 FOXA2 MLX SIN3A ARID4B DMAP1 ZNF2 YY1 ZNF143 SVBP PPIH ENSG00000228192 ZNF691 P3H1 SLC2A1-AS1 ERMAP GC01M042733
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around P3H1 on UCSC Golden Path with GeneCards custom track

Promoters for P3H1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for P3H1 Gene

42,746,335 bp from pter
42,767,084 bp from pter
20,750 bases
Minus strand

Genomic View for P3H1 Gene

Genes around P3H1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
P3H1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for P3H1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for P3H1 Gene

Proteins for P3H1 Gene

  • Protein details for P3H1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Prolyl 3-hydroxylase 1
    Protein Accession:
    Secondary Accessions:
    • Q7KZR4
    • Q96BR8
    • Q96SK8
    • Q96SL5
    • Q96SN3
    • Q9H6K3
    • Q9HC86
    • Q9HC87

    Protein attributes for P3H1 Gene

    736 amino acids
    Molecular mass:
    83394 Da
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Name=L-ascorbate; Xref=ChEBI:CHEBI:38290;
    Quaternary structure:
    No Data Available
    • Sequence=AAH15309.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB15256.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for P3H1 Gene


neXtProt entry for P3H1 Gene

Selected DME Specific Peptides for P3H1 Gene


Post-translational modifications for P3H1 Gene

  • O-glycosylated; chondroitin sulfate.
  • Ubiquitination at posLast=512512
  • Glycosylation at Asn316, posLast=467467, and posLast=540540
  • Modification sites at PhosphoSitePlus

Domains & Families for P3H1 Gene

Protein Domains for P3H1 Gene

Suggested Antigen Peptide Sequences for P3H1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the leprecan family.
  • Belongs to the leprecan family.
genes like me logo Genes that share domains with P3H1: view

No data available for Gene Families for P3H1 Gene

Function for P3H1 Gene

Molecular function for P3H1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
L-proline-[procollagen] + 2-oxoglutarate + O(2) = trans-3-hydroxy-L-proline-[procollagen] + succinate + CO(2).
UniProtKB/Swiss-Prot Function:
Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts.

Enzyme Numbers (IUBMB) for P3H1 Gene

Gene Ontology (GO) - Molecular Function for P3H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005506 iron ion binding IEA --
GO:0005518 contributes_to collagen binding ISS 15044469
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
genes like me logo Genes that share ontologies with P3H1: view
genes like me logo Genes that share phenotypes with P3H1: view

Human Phenotype Ontology for P3H1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for P3H1 Gene

MGI Knock Outs for P3H1:

Animal Model Products

  • Taconic Biosciences Mouse Models for P3H1

CRISPR Products

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for P3H1 Gene

Localization for P3H1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for P3H1 Gene

Isoform 1: Endoplasmic reticulum.
Secreted, extracellular space, extracellular matrix. Note=Secreted into the extracellular matrix as a chondroitin sulfate proteoglycan (CSPG). {ECO:0000269 PubMed:19088120}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for P3H1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
nucleus 2
peroxisome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for P3H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005783 endoplasmic reticulum IDA,IEA 19846465
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with P3H1: view

Pathways & Interactions for P3H1 Gene

genes like me logo Genes that share pathways with P3H1: view

Pathways by source for P3H1 Gene

Gene Ontology (GO) - Biological Process for P3H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding IMP 17277775
GO:0008285 negative regulation of cell proliferation NAS 10951563
GO:0018126 protein hydroxylation IMP 17277775
GO:0019511 peptidyl-proline hydroxylation IEA --
GO:0032963 collagen metabolic process ISS 15044469
genes like me logo Genes that share ontologies with P3H1: view

No data available for SIGNOR curated interactions for P3H1 Gene

Drugs & Compounds for P3H1 Gene

(4) Drugs for P3H1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Proline Approved Nutra Target 0
Succinic acid Approved Nutra Full agonist, Agonist, Target 0
Vitamin C Approved Nutra Target 531,531
Oxygen Approved, Vet_approved Pharma 0

(3) Additional Compounds for P3H1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Procollagen trans-3-hydroxy-L-proline
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
genes like me logo Genes that share compounds with P3H1: view

Transcripts for P3H1 Gene

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for P3H1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - - - -
SP5: - -
SP6: - -
SP7: - -
SP8: - - - - -
SP9: -
SP10: -
SP12: - - -

ExUns: 14a · 14b · 14c ^ 15a · 15b ^ 16a · 16b · 16c ^ 17
SP1: - -
SP2: -
SP3: - -
SP4: -
SP5: -
SP6: -

Relevant External Links for P3H1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for P3H1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for P3H1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for P3H1 Gene

This gene is overexpressed in Bone marrow stromal cell (16.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for P3H1 Gene

Protein tissue co-expression partners for P3H1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of P3H1 Gene:


Evidence on tissue expression from TISSUES for P3H1 Gene

  • Intestine(4.2)
  • Liver(4.2)
  • Nervous system(3)
  • Skin(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for P3H1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • tooth
  • vocal cord
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • biliary tract
  • intestine
  • kidney
  • liver
  • stomach
  • pelvis
  • ureter
  • uterus
  • vagina
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with P3H1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for P3H1 Gene

Orthologs for P3H1 Gene

This gene was present in the common ancestor of animals.

Orthologs for P3H1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LEPRE1 35 34
  • 96.36 (n)
(Bos Taurus)
Mammalia LEPRE1 35 34
  • 88.63 (n)
(Canis familiaris)
Mammalia LEPRE1 35 34
  • 88.42 (n)
(Mus musculus)
Mammalia Lepre1 35 34
  • 87.09 (n)
P3h1 16
(Rattus norvegicus)
Mammalia Lepre1 34
  • 86.2 (n)
(Monodelphis domestica)
Mammalia LEPRE1 35
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia LEPRE1 35
  • 71 (a)
(Gallus gallus)
Aves LEPRE1 35 34
  • 75.58 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia lepre1 34
  • 68 (n)
Str.1368 34
(Danio rerio)
Actinopterygii lepre1 35 34
  • 61.36 (n)
(Caenorhabditis elegans)
Secernentea Y73F8A.26 35
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
Species where no ortholog for P3H1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for P3H1 Gene

Gene Tree for P3H1 (if available)
Gene Tree for P3H1 (if available)

Paralogs for P3H1 Gene

Paralogs for P3H1 Gene

genes like me logo Genes that share paralogs with P3H1: view

Variants for P3H1 Gene

Sequence variations from dbSNP and Humsavar for P3H1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs118203996 Pathogenic 42,755,616(-) GACAG(C/T)GAAGC nc-transcript-variant, reference, stop-gained
rs137853890 Pathogenic 42,747,254(-) CGAGC(A/G)GGTGA intron-variant, downstream-variant-500B, reference, synonymous-codon
rs137853952 Pathogenic 42,752,644(-) TATGA(AG/C)GCATC nc-transcript-variant, reference, frameshift-variant
rs140468248 Pathogenic 42,755,598(+) CAGTT(A/C/G)TTTTT nc-transcript-variant, reference, missense
rs369651701 Pathogenic 42,752,273(+) TCTTA(C/T)CTTGA splice-donor-variant

Structural Variations from Database of Genomic Variants (DGV) for P3H1 Gene

Variant ID Type Subtype PubMed ID
esv3577249 CNV gain 25503493
nsv829682 CNV loss 17160897
nsv950700 CNV deletion 24416366

Variation tolerance for P3H1 Gene

Residual Variation Intolerance Score: 55.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.79; 83.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for P3H1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for P3H1 Gene

Disorders for P3H1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for P3H1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
osteogenesis imperfecta, type viii
  • osteogenesis imperfecta type 8
osteogenesis imperfecta, type ii
  • osteogenesis imperfecta type 2
osteogenesis imperfecta, type iii
  • osteogenesis imperfecta type 3
p3h1-related osteogenesis imperfecta
osteogenesis imperfecta
  • brittle bone disease
- elite association - COSMIC cancer census association via MalaCards
Search P3H1 in MalaCards View complete list of genes associated with diseases


  • Osteogenesis imperfecta 8 (OI8) [MIM:610915]: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI8 is characterized by disproportionate short stature, severe osteoporosis, shortening of the long bones, white sclerae, a round face and a short barrel-shaped chest. {ECO:0000269 PubMed:17277775, ECO:0000269 PubMed:19088120}. Note=The disease is caused by mutations affecting the gene represented in this entry. A splice site mutation leading to the absence of isoform 1 has been reported in 2 OI8 patients. Isoform 1 is the only form predicted to be located in the endoplasmic reticulum, which the appropriate location for the catalysis of collagen hydroxylation. These patients show indeed severely reduced COL1A1 hydroxylation (PubMed:19088120). {ECO:0000269 PubMed:19088120}.

Relevant External Links for P3H1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with P3H1: view

No data available for Genatlas for P3H1 Gene

Publications for P3H1 Gene

  1. Gros1, a potential growth suppressor on chromosome 1: its identity to basement membrane-associated proteoglycan, leprecan. (PMID: 10951563) Kaul S.C. … Wadhwa R. (Oncogene 2000) 2 3 4 22 64
  2. Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. (PMID: 19088120) Willaert A. … De Paepe A. (J. Med. Genet. 2009) 3 4 22 64
  3. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. (PMID: 17277775) Cabral W.A. … Marini J.C. (Nat. Genet. 2007) 3 4 22 64
  4. Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. (PMID: 19846465) Chang W. … Marini J.C. (Hum. Mol. Genet. 2010) 3 22 64
  5. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. (PMID: 19862557) Marini J.C. … Barnes A.M. (Cell Tissue Res. 2010) 3 22 64

Products for P3H1 Gene

Sources for P3H1 Gene

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