Human Gene P3H1 (uc001chy.4)
  Description: Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (P3H1), transcript variant 1, mRNA.
RefSeq Summary (NM_022356): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:43,225,671-43,232,755 Size: 7,085 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr1:43,227,952-43,232,642 Size: 4,691 Coding Exon Count: 2 

Page IndexSequence and LinksPrimersMalaCardsGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:43,225,671-43,232,755)mRNA (may differ from genome)Protein (219 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGeneCardsGeneNetworkH-INV
LynxMalacardsMGIPubMedReactomeUniProtKB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: P3H1
Diseases sorted by gene-association score: osteogenesis imperfecta, type viii* (1027), osteogenesis imperfecta, type ii* (215), p3h1-related osteogenesis imperfecta* (200), osteogenesis imperfecta, type iii* (132), osteogenesis imperfecta (35), dentinogenesis imperfecta (9), cervical incompetence (8), bruck syndrome (6), bone development disease (5), connective tissue disease (2)
* = Manually curated disease association

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 33.05 RPKM in Cells - Cultured fibroblasts
Total median expression: 531.16 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -59.60113-0.527 Picture PostScript Text
3' UTR -974.212281-0.427 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on Q32P28-2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  LF206593 - JP 2014500723-A/14096: Polycomb-Associated Non-Coding RNAs.
BC091513 - Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1, mRNA (cDNA clone IMAGE:6187572), with apparent retained intron.
BC004160 - Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1, mRNA (cDNA clone IMAGE:2824480), containing frame-shift errors.
BC011666 - Homo sapiens cDNA clone IMAGE:4122527, **** WARNING: chimeric clone ****.
AF097431 - Homo sapiens GROS1-S protein mRNA, complete cds.
AF097432 - Homo sapiens GROS1-L protein mRNA, complete cds.
BC108311 - Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1, mRNA (cDNA clone MGC:117314 IMAGE:4521167), complete cds.
AK297980 - Homo sapiens cDNA FLJ53395 complete cds, highly similar to Prolyl 3-hydroxylase 1 precursor (EC 1.14.11.7).
AK075418 - Homo sapiens cDNA PSEC0109 fis, clone NT2RP2005671, highly similar to Leucine proline-enriched proteoglycan (leprecan) 1.
AK027648 - Homo sapiens cDNA FLJ14742 fis, clone NT2RP3002650, highly similar to Mus musculus growth suppressor 1L (Gros1) mRNA.
AK027697 - Homo sapiens cDNA FLJ14791 fis, clone NT2RP4001064, weakly similar to SYNAPTONEMAL COMPLEX PROTEIN SC65.
AK027680 - Homo sapiens cDNA FLJ14774 fis, clone NT2RP4000051, weakly similar to SYNAPTONEMAL COMPLEX PROTEIN SC65.
KJ894540 - Synthetic construct Homo sapiens clone ccsbBroadEn_03934 LEPRE1 gene, encodes complete protein.
BC143962 - Homo sapiens cDNA clone IMAGE:9052480, with apparent retained intron.
BC143961 - Homo sapiens cDNA clone IMAGE:9052479.
AK300210 - Homo sapiens cDNA FLJ54152 complete cds, highly similar to Prolyl 3-hydroxylase 1 precursor (EC 1.14.11.7).
BC068461 - Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1, mRNA (cDNA clone IMAGE:30342539), with apparent retained intron.
JD421870 - Sequence 402894 from Patent EP1572962.
JD238082 - Sequence 219106 from Patent EP1572962.
JD388374 - Sequence 369398 from Patent EP1572962.
JD321141 - Sequence 302165 from Patent EP1572962.
JD041401 - Sequence 22425 from Patent EP1572962.
JD169382 - Sequence 150406 from Patent EP1572962.
JD529245 - Sequence 510269 from Patent EP1572962.
JD411825 - Sequence 392849 from Patent EP1572962.
JD481448 - Sequence 462472 from Patent EP1572962.
JD290800 - Sequence 271824 from Patent EP1572962.
JD455058 - Sequence 436082 from Patent EP1572962.
JD249795 - Sequence 230819 from Patent EP1572962.
JD358483 - Sequence 339507 from Patent EP1572962.
JD475734 - Sequence 456758 from Patent EP1572962.
JD148272 - Sequence 129296 from Patent EP1572962.
JD483556 - Sequence 464580 from Patent EP1572962.
JD463785 - Sequence 444809 from Patent EP1572962.
JD277893 - Sequence 258917 from Patent EP1572962.
JD478544 - Sequence 459568 from Patent EP1572962.
JD543234 - Sequence 524258 from Patent EP1572962.
JD537274 - Sequence 518298 from Patent EP1572962.
JD170345 - Sequence 151369 from Patent EP1572962.
JD101801 - Sequence 82825 from Patent EP1572962.
JD398822 - Sequence 379846 from Patent EP1572962.
JD070590 - Sequence 51614 from Patent EP1572962.
JD507634 - Sequence 488658 from Patent EP1572962.
LF356413 - JP 2014500723-A/163916: Polycomb-Associated Non-Coding RNAs.
LF356412 - JP 2014500723-A/163915: Polycomb-Associated Non-Coding RNAs.
LF356410 - JP 2014500723-A/163913: Polycomb-Associated Non-Coding RNAs.
LF356409 - JP 2014500723-A/163912: Polycomb-Associated Non-Coding RNAs.
LF356408 - JP 2014500723-A/163911: Polycomb-Associated Non-Coding RNAs.
MA442170 - JP 2018138019-A/14096: Polycomb-Associated Non-Coding RNAs.
MA591990 - JP 2018138019-A/163916: Polycomb-Associated Non-Coding RNAs.
MA591989 - JP 2018138019-A/163915: Polycomb-Associated Non-Coding RNAs.
MA591987 - JP 2018138019-A/163913: Polycomb-Associated Non-Coding RNAs.
MA591986 - JP 2018138019-A/163912: Polycomb-Associated Non-Coding RNAs.
MA591985 - JP 2018138019-A/163911: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q32P28 (Reactome details) participates in the following event(s):

R-HSA-2022073 Procollagen triple helix formation
R-HSA-8948230 P3HB binds 4-Hyp-collagen propeptides
R-HSA-1980233 Collagen prolyl 3-hydroxylase converts 4-Hyp collagen to 3,4-Hyp collagen
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-1474290 Collagen formation
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: BC068461, GROS1, LEPRE1, PSEC0109, Q32P28-2
UCSC ID: uc001chy.4
RefSeq Accession: NM_022356
Protein: Q32P28-2, splice isoform of Q32P28

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC068461.1
exon count: 2CDS single in 3' UTR: no RNA size: 3016
ORF size: 660CDS single in intron: no Alignment % ID: 99.67
txCdsPredict score: 1490.00frame shift in genome: no % Coverage: 99.54
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 2323# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.