P3h1 prolyl 3-hydroxylase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: P3h1provided by MGI
Official Full Name: prolyl 3-hydroxylase 1provided by MGI
Primary source: MGI:MGI:1888921
See related: Ensembl:ENSMUSG00000028641 AllianceGenome:MGI:1888921
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gros1; Lepre1; 2410024C15Rik
Summary: Predicted to enable procollagen-proline 3-dioxygenase activity. Acts upstream of or within collagen fibril organization; negative regulation of cell growth; and regulation of ossification. Predicted to be located in basement membrane; cytoplasm; and nucleus. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including alimentary system; genitourinary system; limb mesenchyme; sensory organ; and skeleton. Used to study osteogenesis imperfecta type 8. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 8. Orthologous to human P3H1 (prolyl 3-hydroxylase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in limb E14.5 (RPKM 50.3), ovary adult (RPKM 44.1) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D2.1; 4 55.34 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (119090112..119106174)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (119232915..119248977)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

P3H1 deficiency leads to decreased deposition of extracellular matrix by osteoblasts and increased incorporation of mineral into the matrix.
Title: Bone matrix hypermineralization in prolyl-3 hydroxylase 1 deficient mice.
we generated knock-in mice carrying a single amino acid substitution in the catalytic site of P3h1 (Lepre1(H662A) ). This substitution abolished P3h1 activity but retained ability to form a complex with Crtap and thus the collagen chaperone
Title: Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues.
An additional function of the rough endoplasmic reticulum protein complex prolyl 3-hydroxylase 1.cartilage-associated protein.cyclophilin B: the CXXXC motif reveals disulfide isomerase activity in vitro.
Title: An additional function of the rough endoplasmic reticulum protein complex prolyl 3-hydroxylase 1·cartilage-associated protein·cyclophilin B: the CXXXC motif reveals disulfide isomerase activity in vitro.
The absence of 3-hydroxyproline and/or the increased glycosylation of hydroxylysine in type I collagen disturbs the lateral growth of the fibrils.
Title: Posttranslational modifications in type I collagen from different tissues extracted from wild type and prolyl 3-hydroxylase 1 null mice.
The LEPRE1 knockout mouse is a valuable model system to investigate the mechanism of hearing loss in recessive osteogenesis imperfecta.
Title: Prolyl 3-hydroxylase-1 null mice exhibit hearing impairment and abnormal morphology of the middle ear bone joints.
Prolyl 3-hydroxylase 1 null mice display abnormalities in fibrillar collagen-rich tissues such as tendons, skin, and bones
Title: Prolyl 3-hydroxylase 1 null mice display abnormalities in fibrillar collagen-rich tissues such as tendons, skin, and bones.
This report characterizes expression of the P3H1, P3H2 and P3H3 genes in embryonic and adult mice.
Title: Expression of prolyl 3-hydroxylase genes in embryonic and adult mouse tissues.
Study found that all 3 mouse Leprecan genes Lepre1, leprel1 and leprel2 are expressed in the notochord; additionally, they are expressed in dorsal root ganglia, limb buds, branchial arches, and developing kidneys.
Title: Conservation of notochord gene expression across chordates: insights from the Leprecan gene family.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Gene trapped (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Lepre1 (e-PCR), detects polymorphism
- UniSTS:528045

Lepre1 (e-PCR), detects polymorphism
- UniSTS:528046

RH142387 (e-PCR)
- UniSTS:231634

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables L-ascorbic acid binding	IEA Inferred from Electronic Annotation more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables procollagen-proline 3-dioxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables procollagen-proline 3-dioxygenase activity	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
involved_in bone development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in collagen metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within collagen metabolic process	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of post-translational protein modification	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in protein folding	ISO Inferred from Sequence Orthology more info
involved_in protein hydroxylation	ISO Inferred from Sequence Orthology more info
involved_in protein stabilization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of ossification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein secretion	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in basement membrane	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: prolyl 3-hydroxylase 1

Names: growth suppressor 1; leprecan 1; leucine- and proline-enriched proteoglycan 1

NP_001035874.1

EC 1.14.11.7

NP_001273077.1

EC 1.14.11.7

NP_062756.2

EC 1.14.11.7

NP_062757.2

EC 1.14.11.7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001042411.1 → NP_001035874.1 prolyl 3-hydroxylase 1 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' and 3' UTRs, initiates translation at a downstream start codon and uses alternate splice sites in the 3' coding region, compared to variant 1. It encodes isoform 3, which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK010578, AK030436, AK159505, BY240019, CO040878

Consensus CDS

CCDS38860.1

UniProtKB/Swiss-Prot

Q3V1T4

Related

ENSMUSP00000080312.7, ENSMUST00000081606.7

Conserved Domains (1) summary

smart00702
Location:303 → 501

P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
NM_001286148.1 → NP_001273077.1 prolyl 3-hydroxylase 1 isoform 4 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses alternate splice sites in the 3' coding region and differs in the 3' UTR, compared to variant 1. It encodes isoform 4, which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK010578, AK132262, AK159505, BB617770, CO040878

Consensus CDS

CCDS71460.1

UniProtKB/TrEMBL

A6PW84

Related

ENSMUSP00000030393.7, ENSMUST00000030393.13

Conserved Domains (1) summary

smart00702
Location:489 → 687

P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
NM_019782.3 → NP_062756.2 prolyl 3-hydroxylase 1 isoform 1 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AK010578, AK030436, CO040878, CX563255

Consensus CDS

CCDS18576.1

UniProtKB/TrEMBL

A2A7Q5

Related

ENSMUSP00000099723.5, ENSMUST00000102662.11

Conserved Domains (1) summary

smart00702
Location:482 → 680

P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
NM_019783.2 → NP_062757.2 prolyl 3-hydroxylase 1 isoform 2 precursor

See identical proteins and their annotated locations for NP_062757.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses alternate splice sites in the 3' coding region and differs in the 3' UTR, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK010578, AK030436, CO040878

Consensus CDS

CCDS38859.1

UniProtKB/Swiss-Prot

A2A7Q4, A6PW85, Q3TWX8, Q3V1T4, Q8BSV2, Q8CFL3, Q9CWK5, Q9QZT6, Q9QZT7

Related

ENSMUSP00000112504.3, ENSMUST00000121111.9

Conserved Domains (1) summary

smart00702
Location:482 → 680

P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

RNA

NR_149723.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (5) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK010578, AK030436, AL606975, CO040878