P3h3 prolyl 3-hydroxylase 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: P3h3provided by MGI
Official Full Name: prolyl 3-hydroxylase 3provided by MGI
Primary source: MGI:MGI:1315208
See related: Ensembl:ENSMUSG00000023191 AllianceGenome:MGI:1315208
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: Grcb; Leprel2
Summary: Predicted to enable procollagen-proline 3-dioxygenase activity. Involved in collagen biosynthetic process and peptidyl-lysine hydroxylation. Part of catalytic complex. Is expressed in several structures, including branchial arch; embryo mesenchyme; genitourinary system; limb primordium; and sensory organ. Orthologous to human P3H3 (prolyl 3-hydroxylase 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in limb E14.5 (RPKM 62.5), ovary adult (RPKM 28.8) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 F2; 6 59.17 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (124818052..124834680, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (124841089..124857746, complement)

Chromosome 6 - NC_000072.7 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
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?

Type I and type V procollagen triple helix uses different subsets of the molecular ensemble for lysine posttranslational modifications in the rER.
Title: Type I and type V procollagen triple helix uses different subsets of the molecular ensemble for lysine posttranslational modifications in the rER.
both P3h3- and Sc65-null mice displayed a similar pattern of severe under-hydroxylation of lysines, particularly at cross-linking sites in type I collagen from bone, skin, dentin, cornea, and aorta, revealing a complex evolution and interplay between the proteins forming the machinery of collagen prolyl 3-hydroxylation and lysyl hydroxylation in the ER
Title: P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA.
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 (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Leprel2 (e-PCR), detects polymorphism
- UniSTS:528048

Leprel2 (e-PCR), detects polymorphism
- UniSTS:528049

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	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in collagen biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in collagen metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-lysine hydroxylation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of catalytic complex	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: prolyl 3-hydroxylase 3

Names: gene rich cluster, B; leprecan-like protein 2; protein B

NP_038562.2

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_013534.5 → NP_038562.2 prolyl 3-hydroxylase 3 precursor

See identical proteins and their annotated locations for NP_038562.2

Status: VALIDATED

Source sequence(s)

AC142254

Consensus CDS

CCDS20533.1

UniProtKB/Swiss-Prot

O88836, Q8CG70

Related

ENSMUSP00000023958.4, ENSMUST00000023958.10

Conserved Domains (1) summary

smart00702
Location:470 → 670

P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

RNA

NR_163804.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC142254

Related

ENSMUST00000135127.8
NR_163805.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC142254
NR_163806.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC142254