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

Gene ID: 10536, updated on 4-Jul-2021

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
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
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Genomic context

See P3H3 in Genome Data Viewer
Location:
12p13.31
Exon count:
15
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (6828407..6839847)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6937572..6949011)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene CD4 molecule Neighboring gene G protein-coupled receptor 162 Neighboring gene G protein subunit beta 3 Neighboring gene cell division cycle associated 3 Neighboring gene ubiquitin specific peptidase 5

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: GPR162

Homology

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
PubMed 
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
PubMed 
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
 
involved_in peptidyl-proline hydroxylation IEA
Inferred from Electronic Annotation
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
PubMed 

General protein information

Preferred Names
prolyl 3-hydroxylase 3
Names
gene rich cluster, B
leprecan-like 2
procollagen-proline 3-dioxygenase
protein B
NP_055077.2

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.

Genomic

  1. NG_033740.1 RefSeqGene

    Range
    5035..16475
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014262.5NP_055077.2  prolyl 3-hydroxylase 3 precursor

    See identical proteins and their annotated locations for NP_055077.2

    Status: REVIEWED

    Source sequence(s)
    AJ430349, BQ009002
    Consensus CDS
    CCDS61027.1
    UniProtKB/Swiss-Prot
    Q8IVL6
    Related
    ENSP00000478600.1, ENST00000290510.10
    Conserved Domains (1) summary
    smart00702
    Location:474674
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    6828407..6839847
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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