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Aliases for P3H1 Gene

Aliases for P3H1 Gene

  • Prolyl 3-Hydroxylase 1 2 3
  • Growth Suppressor 1 2 3 4
  • LEPRE1 3 4 6
  • GROS1 3 4 6
  • Leucine Proline-Enriched Proteoglycan (Leprecan) 1 2 3
  • Leucine- And Proline-Enriched Proteoglycan 1 3 4
  • Procollagen-Proline 3-Dioxygenase 2 3
  • EC 4 63
  • OI8 3 6
  • Leprecan-1 4
  • Leprecan 3

External Ids for P3H1 Gene

Previous 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. Among its related pathways are Degradation of the extracellular matrix and Collagen biosynthesis and modifying enzymes. An important paralog of this gene is CRTAP.

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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for P3H1 Gene

Genomics for P3H1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for P3H1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for P3H1 Gene

No data available for Regulatory Elements 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

Proteomics data for P3H1 Gene at MOPED

Post-translational modifications for P3H1 Gene

Other Protein References for P3H1 Gene

Domains for P3H1 Gene

Protein Domains for P3H1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 Fe2OG dioxygenase domain.:
    • Q32P28
  • Belongs to the leprecan family.:
    • Q32P28
  • Contains 4 TPR repeats.:
    • Q32P28
genes like me logo Genes that share domains with P3H1: view

No data available for Gene Families and Suggested Antigen Peptide Sequences 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 --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen --
genes like me logo Genes that share ontologies with P3H1: view
genes like me logo Genes that share phenotypes with P3H1: view

miRNA for P3H1 Gene

miRTarBase miRNAs that target P3H1

No data available for Animal Models , Transcription Factor Targeting 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}.

Gene Ontology (GO) - Cellular Components for P3H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm --
GO:0005783 endoplasmic reticulum IDA 19846465
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with P3H1: view

No data available for Subcellular locations from COMPARTMENTS for P3H1 Gene

Pathways 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:0016049 cell growth IEA --
GO:0018126 protein hydroxylation IMP 17277775
GO:0019511 peptidyl-proline hydroxylation ISS 15044469
genes like me logo Genes that share ontologies with P3H1: view

Transcripts for P3H1 Gene

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 for P3H1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for P3H1 Gene

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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
  • 96.36 (n)
  • 95.37 (a)
  • 99 (a)
(Bos Taurus)
Mammalia LEPRE1 35
  • 88.63 (n)
  • 91.17 (a)
  • 88 (a)
(Canis familiaris)
Mammalia LEPRE1 35
  • 88.42 (n)
  • 90.52 (a)
  • 86 (a)
(Mus musculus)
Mammalia Lepre1 35
  • 87.09 (n)
  • 88.04 (a)
Lepre1 16
Lepre1 36
  • 83 (a)
(Monodelphis domestica)
Mammalia LEPRE1 36
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia LEPRE1 36
  • 71 (a)
(Rattus norvegicus)
Mammalia Lepre1 35
  • 86.2 (n)
  • 88.64 (a)
(Gallus gallus)
Aves LEPRE1 35
  • 75.58 (n)
  • 79.09 (a)
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia lepre1 35
  • 68 (n)
  • 72.38 (a)
Str.1368 35
(Danio rerio)
Actinopterygii lepre1 35
  • 61.36 (n)
  • 57.44 (a)
lepre1 36
  • 47 (a)
(Caenorhabditis elegans)
Secernentea Y73F8A.26 36
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
Species with no ortholog for P3H1:
  • 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 MAF
rs6882 -- 42,746,440(-) TGCAT(A/G)ACAGC utr-variant-3-prime
rs10535 -- 42,746,409(+) GTTGT(A/C)TACAC utr-variant-3-prime
rs13871 -- 42,746,620(+) GCCCC(A/G)AGGGG utr-variant-3-prime
rs1006518 -- 42,749,012(-) GGGAG(A/G)AGGGA intron-variant
rs1018572 -- 42,749,900(-) GCTGG(C/T)GCTAA intron-variant

Relevant External Links for P3H1 Gene

HapMap Linkage Disequilibrium report
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for P3H1 Gene

Disorders for P3H1 Gene

(1) OMIM Diseases for P3H1 Gene (610339)


  • 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}.

(1) Novoseek inferred disease relationships for P3H1 Gene

Disease -log(P) Hits PubMed IDs
osteogenesis imperfecta 91 9
genes like me logo Genes that share disorders with P3H1: view

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 23
  2. 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 23
  3. 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 23
  4. Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes. (PMID: 15044469) Vranka J.A. … BAochinger H.P. (J. Biol. Chem. 2004) 3 23
  5. 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 23

Products for P3H1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate P3H1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for P3H1
    • Block miRNA regulation of P3H1 using miScript Target Protectors

    Sources for P3H1 Gene

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