P3h1 prolyl 3-hydroxylase 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: P3h1provided by RGD
Official Full Name: prolyl 3-hydroxylase 1provided by RGD
Primary source: RGD:628823
See related: EnsemblRapid:ENSRNOG00000053991 AllianceGenome:RGD:628823
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Gros1; Lepre1
Summary: Predicted to enable procollagen-proline 3-dioxygenase activity. Involved in positive regulation of neuron projection development. Located in basement membrane. 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, Dec 2024]
Expression: Biased expression in Adrenal (RPKM 87.6), Kidney (RPKM 85.9) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 5q36

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	5	NC_086023.1 (138127240..138141974)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	5	NC_051340.1 (132841868..132856664)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	5	NC_005104.4 (138279597..138294280)

Chromosome 5 - NC_086023.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Regulated expression of leprecan during glomerular development or hypertrophy coupled with its reported prolyl hydroxylase activity plays a role during basement membrane assembly.
Title: Leprecan distribution in the developing and adult kidney.

Submit: New GeneRIF Correction

General gene information

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Markers

RH143026 (e-PCR)
- UniSTS:232273

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

RH142387 (e-PCR)
- UniSTS:231634

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables L-ascorbic acid binding	IEA Inferred from Electronic Annotation more info
enables dioxygenase activity	IEA Inferred from Electronic Annotation more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	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

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

Component	Evidence Code	Pubs
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
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
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: prolyl 3-hydroxylase 1

Names: growth supressor 1; leprecan-1; leucine proline-enriched proteoglycan (leprecan) 1; leucine- and proline-enriched proteoglycan 1

NP_446119.2

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_053667.2 → NP_446119.2 prolyl 3-hydroxylase 1 precursor

Status: VALIDATED

Source sequence(s)

JAXUCZ010000005

UniProtKB/TrEMBL

A0A0G2K199, A6JZM2

Related

ENSRNOP00000071755.3, ENSRNOT00000084651.3

Conserved Domains (2) summary

smart00702
Location:482 → 680

P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

TIGR02917
Location:90 → 337

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein