P3h4 prolyl 3-hydroxylase family member 4 (non-enzymatic) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: P3h4provided by MGI
Official Full Name: prolyl 3-hydroxylase family member 4 (non-enzymatic)provided by MGI
Primary source: MGI:MGI:1913430
See related: Ensembl:ENSMUSG00000006931 AllianceGenome:MGI:1913430
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: Sc65; Leprel4; 1110036O03Rik
Summary: Predicted to contribute to collagen binding activity. Involved in several processes, including collagen biosynthetic process; collagen fibril organization; and peptidyl-lysine hydroxylation. Part of catalytic complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; sensory organ; and skeleton. Orthologous to human P3H4 (prolyl 3-hydroxylase family member 4 (inactive)). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in ovary adult (RPKM 131.7), adrenal adult (RPKM 53.0) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 D; 11 63.47 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (100299293..100305542, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (100408467..100414716, complement)

Chromosome 11 - NC_000077.7 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?

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.

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Variation

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Alleles

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

Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Leprel4 (e-PCR), detects polymorphism
- UniSTS:546841

AI413214 (e-PCR)
- UniSTS:160161

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
contributes_to collagen binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in bone remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in collagen biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in collagen fibril organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in synaptonemal complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: endoplasmic reticulum protein SC65

Names: SC65 synaptonemal complex protein (Sc65-pending); leprecan-like 4; leprecan-like protein 4; synaptonemal complex protein SC65

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_001378981.1 → NP_001365910.1 endoplasmic reticulum protein SC65 isoform 1 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL590968
NM_176830.3 → NP_789800.1 endoplasmic reticulum protein SC65 isoform 2 precursor

See identical proteins and their annotated locations for NP_789800.1

Status: VALIDATED

Source sequence(s)

AL590968

Consensus CDS

CCDS25421.1

UniProtKB/Swiss-Prot

Q8K2B0

Related

ENSMUSP00000065278.7, ENSMUST00000066489.13