P3H3 prolyl 3-hydroxylase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: P3H3provided by HGNC
Official Full Name: prolyl 3-hydroxylase 3provided by HGNC
Primary source: HGNC:HGNC:19318
See related: Ensembl:ENSG00000110811 MIM:610342; AllianceGenome:HGNC:19318
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GRCB; LEPREL2; HSU47926
Summary: The protein encoded by this gene belongs to the leprecan family of proteoglycans, which function as collagen prolyl hydroxylases that are required for proper collagen biosynthesis, folding and assembly. This protein, like other family members, is thought to reside in the endoplasmic reticulum. Epigenetic inactivation of this gene is associated with breast and other cancers, suggesting that it may function as a tumor suppressor. [provided by RefSeq, Aug 2013]
Expression: Ubiquitous expression in endometrium (RPKM 14.9), ovary (RPKM 11.4) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.31

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (6828407..6839847)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (6837700..6849139)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (6937572..6949011)

Chromosome 12 - NC_000012.12 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-U47926 (e-PCR)
- UniSTS:48399

WI-21968 (e-PCR)
- UniSTS:30853

STS-U47924 (e-PCR)
- UniSTS:43398

SHGC-12737 (e-PCR)
- UniSTS:30349

LEPREL2__6387 (e-PCR)
- UniSTS:464038

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in collagen biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in collagen metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in peptidyl-lysine hydroxylation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of catalytic complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: prolyl 3-hydroxylase 3

Names: gene rich cluster, B; leprecan-like 2; procollagen-proline 3-dioxygenase; protein B

NP_055077.2

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.