Human Gene P3H1 (uc001chw.2)
Description: Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (P3H1), transcript variant 2, mRNA.
RefSeq Summary (NM_001146289): 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 chr1:43,212,006-43,232,755 Size: 20,750 Total Exon Count: 15 Strand: -
Coding Region
Position: hg19 chr1:43,212,504-43,232,642 Size: 20,139 Coding Exon Count: 15
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Primer design for this transcript
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
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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
Pfam Domains: PF03171 - 2OG-Fe(II) oxygenase superfamily
PF13640 - 2OG-Fe(II) oxygenase superfamily
SCOP Domains: 81901 - HCP-like
48452 - TPR-like
ModBase Predicted Comparative 3D Structure on Q32P28-3
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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.
Descriptions from all associated GenBank mRNAs
LF206593 - JP 2014500723-A/14096: Polycomb-Associated Non-Coding RNAs.LF356423 - JP 2014500723-A/163926: Polycomb-Associated Non-Coding RNAs.CR749690 - Homo sapiens mRNA; cDNA DKFZp547C166 (from clone DKFZp547C166).AK025841 - Homo sapiens cDNA: FLJ22188 fis, clone HRC01030.BC051324 - Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1, mRNA (cDNA clone IMAGE:6270659), **** WARNING: chimeric clone ****.BC064992 - Homo sapiens cDNA clone IMAGE:5798179, **** WARNING: chimeric clone ****.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.JD209978 - Sequence 191002 from Patent EP1572962.JD239266 - Sequence 220290 from Patent EP1572962.JD423474 - Sequence 404498 from Patent EP1572962.JD459438 - Sequence 440462 from Patent EP1572962.JD159145 - Sequence 140169 from Patent EP1572962.JD444558 - Sequence 425582 from Patent EP1572962.JD154030 - Sequence 135054 from Patent EP1572962.JD326108 - Sequence 307132 from Patent EP1572962.JD435587 - Sequence 416611 from Patent EP1572962.JD444997 - Sequence 426021 from Patent EP1572962.JD119588 - Sequence 100612 from Patent EP1572962.JD207369 - Sequence 188393 from Patent EP1572962.LF356422 - JP 2014500723-A/163925: Polycomb-Associated Non-Coding RNAs.BT007039 - Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 mRNA, complete cds.JD155602 - Sequence 136626 from Patent EP1572962.JD487714 - Sequence 468738 from Patent EP1572962.JD182823 - Sequence 163847 from Patent EP1572962.JD236203 - Sequence 217227 from Patent EP1572962.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.LF356421 - JP 2014500723-A/163924: Polycomb-Associated Non-Coding RNAs.LF356419 - JP 2014500723-A/163922: Polycomb-Associated Non-Coding RNAs.LF356417 - JP 2014500723-A/163920: Polycomb-Associated Non-Coding RNAs.LF356416 - JP 2014500723-A/163919: Polycomb-Associated Non-Coding RNAs.AK300210 - Homo sapiens cDNA FLJ54152 complete cds, highly similar to Prolyl 3-hydroxylase 1 precursor (EC 1.14.11.7).LF356415 - JP 2014500723-A/163918: Polycomb-Associated Non-Coding RNAs.LF213504 - JP 2014500723-A/21007: Polycomb-Associated Non-Coding RNAs.BC068461 - Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1, mRNA (cDNA clone IMAGE:30342539), with apparent retained intron.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.MA592000 - JP 2018138019-A/163926: Polycomb-Associated Non-Coding RNAs.MA591999 - JP 2018138019-A/163925: Polycomb-Associated Non-Coding RNAs.MA591998 - JP 2018138019-A/163924: Polycomb-Associated Non-Coding RNAs.MA591996 - JP 2018138019-A/163922: Polycomb-Associated Non-Coding RNAs.MA591994 - JP 2018138019-A/163920: Polycomb-Associated Non-Coding RNAs.MA591993 - JP 2018138019-A/163919: Polycomb-Associated Non-Coding RNAs.MA591992 - JP 2018138019-A/163918: Polycomb-Associated Non-Coding RNAs.MA449081 - JP 2018138019-A/21007: 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.BC015309 - Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1, mRNA (cDNA clone IMAGE:4395073), partial cds.
Biochemical and Signaling Pathways
Other Names for This Gene
Alternate Gene Symbols: GROS1, LEPRE1, NM_001146289, NP_001139761, PSEC0109, Q32P28-3UCSC ID: uc001chw.2RefSeq Accession: NM_001146289
Protein: Q32P28-3
CCDS: CCDS53307.1
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
NM_001146289.1
exon count:
15 CDS single in 3' UTR:
no
RNA size:
2715
ORF size:
2094 CDS single in intron:
no
Alignment % ID:
99.96
txCdsPredict score:
4351.00 frame shift in genome:
no
% Coverage:
99.63
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:
0 # strange splices:
0
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Methods, Credits, and Use Restrictions
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