Aliases for P3H1 Gene
Aliases for P3H1 Gene
External Ids for P3H1 Gene
- HGNC: 19316
- Entrez Gene: 64175
- Ensembl: ENSG00000117385
- OMIM: 610339
- UniProtKB: Q32P28
Previous HGNC Symbols for P3H1 Gene
- LEPRE1
Summaries 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. 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 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.
Additional gene information for P3H1 Gene
- Monarch Initiative
- Search for P3H1 at DataMed
- Search for P3H1 at HumanCyc
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
GeneHancer (GH) Regulatory Elements for P3H1 Gene
Promoters and enhancers for P3H1 Gene
- 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 UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 1p34.2 by Entrez Gene
- 1p34.2 by HGNC
- 1p34.2 by Ensembl
P3H1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB15256.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for P3H1 Gene
Post-translational modifications for P3H1 Gene
- O-glycosylated; chondroitin sulfate.
- Glycosylation at Asn540, isoforms=3, 4467, and Asn316
- Ubiquitination at Lys512
- Modification sites at PhosphoSitePlus
Other Protein References for P3H1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for P3H1
-
Abcam antibodies for P3H1
- Invitrogen Antibodies for P3H1
- Search GeneTex for Antibodies for P3H1
-
Santa Cruz Biotechnology (SCBT) Antibodies for P3H1
Protein Products
-
OriGene Purified Proteins for P3H1
- Search Origene for MassSpec and Protein Over-expression Lysates for P3H1
- Origene Custom Protein Services for P3H1
- antibodies-online: Search results for 6 available LEPRE1 Proteins ranked by validation data
- Compare Top LEPRE1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for P3H1
-
Abcam proteins for P3H1
Assay Products
- antibodies-online: Search results for 4 available LEPRE1 Elisa Kits ranked by validation data
- Compare Top LEPRE1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for P3H1 Gene
Domains & Families for P3H1 Gene
Gene Families for P3H1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted secreted proteins
Protein Domains for P3H1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for P3H1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q32P28- Family:
-
- Belongs to the leprecan family.
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:
- L-proline-[procollagen] + 2-oxoglutarate + O(2) = trans-3-hydroxy-L-proline-[procollagen] + succinate + CO(2).
Enzyme Numbers (IUBMB) for P3H1 Gene
Phenotypes From GWAS Catalog 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 | IEA | -- |
| GO:0005518 | contributes_to collagen binding | ISS | 15044469 |
| GO:0016491 | oxidoreductase activity | IEA | -- |
Phenotypes for P3H1 Gene
- MGI mutant phenotypes for P3H1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for P3H1:
Animal Model Products
-
Taconic Biosciences Mouse Models for P3H1
- Cyagen custom Knockout/knockin (KOKI) mouse models for P3H1
-
CRISPR Products
-
OriGene CRISPR knockouts for P3H1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for P3H1
- genomics-online: gRNA clones - Search results for 111 available LEPRE1 gene related products
- Overview of 111 available LEPRE1 gene related products
- Applied Biological Materials CRISPR for P3H1
-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for P3H1
miRNA for P3H1 Gene
- miRTarBase miRNAs that target P3H1
-
- hsa-mir-125a-3p (MIRT038641)
- hsa-mir-432-5p (MIRT440333)
- hsa-mir-6826-3p (MIRT474193)
- hsa-mir-7974 (MIRT474194)
- hsa-mir-5682 (MIRT474195)
- hsa-mir-767-5p (MIRT474196)
- hsa-mir-4468 (MIRT474197)
- hsa-mir-4677-3p (MIRT474198)
- hsa-mir-6795-3p (MIRT474199)
- hsa-mir-6887-3p (MIRT474200)
- hsa-mir-335-5p (MIRT474201)
- hsa-mir-3668 (MIRT474202)
- hsa-mir-6871-3p (MIRT474203)
- hsa-mir-6510-5p (MIRT474204)
- hsa-mir-2278 (MIRT474205)
- hsa-mir-3154 (MIRT474206)
- hsa-mir-29a-3p (MIRT474207)
- hsa-mir-29c-3p (MIRT474208)
- hsa-mir-29b-3p (MIRT474209)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for P3H1
- Browse OriGene Inhibitory RNA Products For P3H1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for P3H1
- genomics-online: shRNA clones - Search results for 111 available LEPRE1 gene related products
- Overview of 111 available LEPRE1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for P3H1
- VectorBuilder custom plasmid, inducible vectors for P3H1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for P3H1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for P3H1
- Applied Biological Materials Clones for P3H1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for P3H1
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}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| nucleus | 2 |
| peroxisome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoli (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA,IDA | 19846465 |
| GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
| GO:0016020 | membrane | HDA | 19946888 |
| GO:0032991 | protein-containing complex | ISS | 15044469 |
Pathways & Interactions for P3H1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Collagen chain trimerization | ||
| 2 | Degradation of the extracellular matrix | ||
Pathways by source for P3H1 Gene
3 Reactome pathways for P3H1 Gene
Interacting Proteins for P3H1 Gene
GPS-Prot Interaction Network for P3H1
| 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 | -- |
No data available for SIGNOR curated interactions for P3H1 Gene
Drugs & Compounds for P3H1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-Hydroxy-L-proline |
|
4298-08-2 |
|
|||
| Fe2+ |
|
15438-31-0 |
|
Drug Products
Transcripts for P3H1 Gene
mRNA/cDNA for P3H1 Gene
- (7) REFSEQ mRNAs :
- (312) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000460031 2726 bps (uc057fjw.1)
- ENST00000236040 2993 bps (uc001chx.5)
- ENST00000495874 2813 bps (uc057fjx.1)
- ENST00000296388 2585 bps (uc001chv.3)
- ENST00000462474 581 bps (uc057fjy.1)
CRISPR Products
-
OriGene CRISPR knockouts for P3H1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for P3H1
- genomics-online: gRNA clones - Search results for 111 available LEPRE1 gene related products
- Overview of 111 available LEPRE1 gene related products
- Applied Biological Materials CRISPR for P3H1
-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for P3H1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for P3H1
- Browse OriGene Inhibitory RNA Products For P3H1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for P3H1
- genomics-online: shRNA clones - Search results for 111 available LEPRE1 gene related products
- Overview of 111 available LEPRE1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for P3H1
- VectorBuilder custom plasmid, inducible vectors for P3H1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for P3H1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for P3H1
- Applied Biological Materials Clones for P3H1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for P3H1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Bone (Muscoskeletal System)
- Chondrocytes Zeugopod Epiphyseal End
- Stylopod Long Bone
- Endochondral Facial Bones
- Zeugopod Long Bone
- Rib
-
Cartilage (Muscoskeletal System)
- Chondrocytes Zeugopod Epiphyseal End
- Laryngeal Cartilage
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- Intestine (Gastrointestinal Tract)
- Ovary (Reproductive System)
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of P3H1 Gene:
P3H1Evidence 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
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
Primer Products
-
OriGene qPCR primer pairs for P3H1
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LEPRE1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | LEPRE1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | LEPRE1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Lepre1 34 33 |
|
OneToOne | |
| P3h1 16 |
|
||||
| rat (Rattus norvegicus) |
Mammalia | Lepre1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | LEPRE1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | LEPRE1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LEPRE1 34 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | lepre1 33 |
|
||
| Str.1368 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | lepre1 34 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | Y73F8A.26 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany |
- 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
- 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
Variants for P3H1 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs113593896 | benign, uncertain-significance, not specified, not provided, Osteogenesis imperfecta type 8 | 42,754,892(-) | T/A/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs114044880 | uncertain-significance, benign, not specified, Osteogenesis imperfecta type 8 | 42,752,532(-) | C/A/T | intron_variant | |
| rs118203996 | pathogenic, Osteogenesis imperfecta type 8, not provided | 42,755,616(-) | G/A | coding_sequence_variant, non_coding_transcript_variant, stop_gained | |
| rs137853890 | conflicting-interpretations-of-pathogenicity, Osteogenesis imperfecta type 8 | 42,747,254(-) | C/T | coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, synonymous_variant | |
| rs137853952 | pathogenic, Osteogenesis imperfecta type 8 | 42,752,644(-) | CT/G | coding_sequence_variant, frameshift, non_coding_transcript_variant |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for P3H1 Gene
Disorders for P3H1 Gene
(11) MalaCards diseases for P3H1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| osteogenesis imperfecta, type viii |
|
|
| osteogenesis imperfecta, type ii |
|
|
| osteogenesis imperfecta, type iii |
|
|
| brittle bone disorder |
|
|
| dentinogenesis imperfecta |
|
|
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}.
Additional Disease Information for P3H1
No data available for Genatlas for P3H1 Gene
Publications for P3H1 Gene
- 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 22 58
- 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 22 58
- 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 22 58
- 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 22 58
- Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. (PMID: 19862557) Marini JC … Barnes AM (Cell and tissue research 2010) 3 22 58
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- antibodies-online: Search results for 47 available LEPRE1 Antibodies ranked by validation data
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Sources for P3H1 Gene
- (1) GeneCards
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- (68) Cloud-Clone Corp.
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