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 b... See more...

Aliases for P3H1 Gene

Aliases for P3H1 Gene

  • Prolyl 3-Hydroxylase 1 2 3 4 5
  • Growth Suppressor 1 2 3 4
  • GROS1 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 1.14.11.7 4 51
  • LEPRE1 3 4
  • Leprecan-1 4
  • MGC117314 2
  • Leprecan 3
  • LEPRECAN 2
  • P3H1 5
  • 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 Brittle Bone Disorder. Among its related pathways are Degradation of the extracellular matrix and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and iron ion binding. An important paralog of this gene is P3H2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for P3H1 Gene

Genomics for P3H1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for P3H1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J042764 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 607.6 +0.6 583 4.2 CREB1 GATAD2A CTCF HNRNPL PRDM10 REST ZNF629 TFE3 IKZF1 NFKBIZ P3H1 C1orf50 ENSG00000283580 HSALNG0003030 PPIH SVBP SZT2 FOXJ3 KDM4A-AS1 MED8
GH01J043521 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 41.1 -756.4 -756417 7.8 RNF2 ARHGAP35 CREB1 GATAD2A ZBTB33 ATF7 ZNF629 ZNF512 LEF1 IKZF1 PTPRF SZT2 KDM4A-AS1 P3H1 PPIH MED8 DMAP1 KDM4A HYI CDC20
GH01J042678 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 25.2 +84.2 84197 7.8 SP1 HNRNPL PRDM10 REST LEF1 ZNF692 NFRKB POLR2A BACH1 FOS ENSG00000285728 YBX1 SZT2 PPIH P3H1 FOXJ3 SVBP CDC20 MED8 ZNF691
GH01J042657 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 25.1 +108.6 108596 2.6 RNF2 SP1 HNRNPL CREB1 GATAD2A TEAD4 PRDM10 ZNF629 SIX5 LEF1 PPIH SZT2 P3H1 SVBP MED8 ZNF691 KDM4A HYI CCDC30 piR-57133-020
GH01J042333 Promoter/Enhancer 1.8 EPDnew ENCODE CraniofacialAtlas 23.6 +431.6 431618 4.5 ZNF221 SP1 HNRNPL CREB1 GATAD2A ATF7 TEAD4 PRDM10 REST ZNF629 FOXJ3 lnc-RIMKLA-1 CCDC30 P3H1 PPIH CLDN19 GUCA2B RNU6-536P ENSG00000236180 ZNF691
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around P3H1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for P3H1

Genomic Locations for P3H1 Gene

Genomic Locations for P3H1 Gene
chr1:42,746,335-42,767,084
(GRCh38/hg38)
Size:
20,750 bases
Orientation:
Minus strand
chr1:43,212,006-43,232,755
(GRCh37/hg19)
Size:
20,750 bases
Orientation:
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:
    Q32P28-P3H1_HUMAN
    Recommended name:
    Prolyl 3-hydroxylase 1
    Protein Accession:
    Q32P28
    Secondary Accessions:
    • Q7KZR4
    • Q96BR8
    • Q96SK8
    • Q96SL5
    • Q96SN3
    • Q9H6K3
    • Q9HC86
    • Q9HC87

    Protein attributes for P3H1 Gene

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

    Alternative splice isoforms for P3H1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for P3H1 Gene

Selected DME Specific Peptides for P3H1 Gene

Q32P28:
  • DPDSWTPE
  • ENPHGVKAVTRGQRCA
  • FSYSHLVCRTAI
  • CRALCEGP
  • NYLQFAYYN
  • KEPPAYTFRDYSA
  • ALRSRAAL
  • ALWFTLDP
  • TAEVQPQCGRAVGFSSG
  • WTPEEVIPKRL
  • EIGNLMKEIETLVEEK
  • RVQADDLVKMLF
  • FYFTELDAKT

Post-translational modifications for P3H1 Gene

  • O-glycosylated; chondroitin sulfate.
  • Glycosylation at Asn316, Asn467, and Asn540
  • Ubiquitination at Lys512
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Domains & Families for P3H1 Gene

Gene Families for P3H1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for P3H1 Gene

Suggested Antigen Peptide Sequences for P3H1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53395, highly similar to Prolyl 3-hydroxylase 1 (EC 1.14.11.7) (B4DNM8_HUMAN)
  • Leucine- and proline-enriched proteoglycan 1 (P3H1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q32P28

UniProtKB/Swiss-Prot:

P3H1_HUMAN :
  • Belongs to the leprecan family.
Family:
  • Belongs to the leprecan family.
genes like me logo Genes that share domains with P3H1: view

Function for P3H1 Gene

Molecular function for P3H1 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-prolyl-[procollagen] + O2 = CO2 + succinate + trans-3-hydroxy-L-prolyl-[procollagen]; Xref=Rhea:RHEA:22872, Rhea:RHEA-COMP:11676, Rhea:RHEA-COMP:11678, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:50342, ChEBI:CHEBI:85428; EC=1.14.11.7;.

Enzyme Numbers (IUBMB) for P3H1 Gene

Phenotypes From GWAS Catalog 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:0005515 protein binding ISS 15044469
GO:0005518 contributes_to collagen binding ISS 15044469
GO:0016491 oxidoreductase activity 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:
  • P3h1 P3h1<tm1b(EUCOMM)Wtsi>
  • P3h1 P3h1<tm1Dgen>

Animal Model Products

  • Taconic Biosciences Mouse Models for P3H1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for P3H1

Clone 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

COMPARTMENTS
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
nucleus 5
endoplasmic reticulum 5
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for P3H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005783 endoplasmic reticulum IBA,IDA 19846465
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0016020 membrane HDA 19946888
GO:0032991 protein-containing complex ISS 15044469
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:0010976 positive regulation of neuron projection development ISS --
GO:0018126 protein hydroxylation IMP 17277775
GO:0019511 peptidyl-proline hydroxylation IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Succinic acid Approved Nutra Agonist, Full agonist, Enzyme, product of 0
Vitamin C Approved Nutra Target, cofactor 748,748
Iron Approved, Experimental Pharma 1560
Oxygen Approved, Vet_approved Pharma 0
Oxogluric acid Experimental, Investigational Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Hydroxy-L-proline
  • cis-3-Hydroxy-D-proline
  • Procollagen trans-3-hydroxy-L-proline
4298-08-2
genes like me logo Genes that share compounds with P3H1: view

Transcripts for P3H1 Gene

mRNA/cDNA for P3H1 Gene

3 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for P3H1

Clone 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: -
SP11:
SP12: - - -

ExUns: 14a · 14b · 14c ^ 15a · 15b ^ 16a · 16b · 16c ^ 17
SP1: - -
SP2: -
SP3: - -
SP4: -
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for P3H1 Gene

GeneLoc Exon Structure for
P3H1

Expression for P3H1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for P3H1 Gene



Protein tissue co-expression partners for P3H1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for P3H1

Evidence on tissue expression from TISSUES for P3H1 Gene

  • Intestine(4.5)
  • Liver(4.4)
  • Nervous system(3.5)
  • Skin(2.9)
  • Kidney(2.5)
  • Lung(2.4)
  • Heart(2.2)
  • Bone(2.1)
  • Blood(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
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
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • intestine
  • kidney
  • liver
  • stomach
Pelvis:
  • pelvis
  • ureter
  • uterus
  • vagina
Limb:
  • 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
General:
  • blood
  • blood vessel
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with P3H1: view

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
Chimpanzee
(Pan troglodytes)
Mammalia LEPRE1 30 31
  • 96.36 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LEPRE1 30 31
  • 88.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LEPRE1 30 31
  • 88.42 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Lepre1 30 31
  • 87.09 (n)
OneToOne
P3h1 17
Rat
(Rattus norvegicus)
Mammalia Lepre1 30
  • 86.2 (n)
Oppossum
(Monodelphis domestica)
Mammalia LEPRE1 31
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LEPRE1 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LEPRE1 30 31
  • 75.58 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lepre1 30
  • 68 (n)
Str.1368 30
Zebrafish
(Danio rerio)
Actinopterygii lepre1 30 31
  • 61.36 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y73F8A.26 31
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
ManyToMany
Species where no ortholog for P3H1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for P3H1 (if available)
TreeFam:
Gene Tree for P3H1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for P3H1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for P3H1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
635343 Pathogenic: Osteogenesis imperfecta 42,762,400(-) G/A NONSENSE
635408 Likely Pathogenic: Osteogenesis imperfecta type 8 42,766,740(-) G/A NONSENSE
639464 Uncertain Significance: Osteogenesis imperfecta type 8 42,762,475(-) T/C MISSENSE_VARIANT
643686 Uncertain Significance: Osteogenesis imperfecta type 8 42,747,355(-) G/T MISSENSE_VARIANT
646432 Uncertain Significance: Osteogenesis imperfecta type 8 42,762,430(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for P3H1 Gene

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)

Additional Variant Information for P3H1 Gene

Human Gene Mutation Database (HGMD)
P3H1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
P3H1

SNP Genotyping and Copy Number Assay Products

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

Disorders for P3H1 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search P3H1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

P3H1_HUMAN
  • 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}.
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 SC … Wadhwa R (Oncogene 2000) 2 3 4 23
  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 (Journal of medical genetics 2009) 3 4 23
  3. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. (PMID: 17277775) Cabral WA … Marini JC (Nature genetics 2007) 3 4 23
  4. Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. (PMID: 20089953) Barnes AM … Marini JC (The New England journal of medicine 2010) 3 23
  5. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. (PMID: 19862557) Marini JC … Barnes AM (Cell and tissue research 2010) 3 23

Products for P3H1 Gene

Sources for P3H1 Gene