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Aliases for P4HA3 Gene

Aliases for P4HA3 Gene

  • Prolyl 4-Hydroxylase Subunit Alpha 3 2 3 5
  • EC 4 61
  • Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Alpha Polypeptide III 2
  • Procollagen-Proline,2-Oxoglutarate-4-Dioxygenase Subunit Alpha-3 4
  • Prolyl 4-Hydroxylase, Alpha Polypeptide III 2
  • Collagen Prolyl 4-Hydroxylase Alpha(III) 2
  • 4-PH Alpha-3 4

External Ids for P4HA3 Gene

Previous GeneCards Identifiers for P4HA3 Gene

  • GC11M073705
  • GC11M073655
  • GC11M073977
  • GC11M070272
  • GC11M073947

Summaries for P4HA3 Gene

Entrez Gene Summary for P4HA3 Gene

  • This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

GeneCards Summary for P4HA3 Gene

P4HA3 (Prolyl 4-Hydroxylase Subunit Alpha 3) is a Protein Coding gene. Among its related pathways are Arginine and proline metabolism and Collagen biosynthesis and modifying enzymes. GO annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is P4HA1.

UniProtKB/Swiss-Prot for P4HA3 Gene

  • Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for P4HA3 Gene

Genomics for P4HA3 Gene

Regulatory Elements for P4HA3 Gene

Enhancers for P4HA3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F074276 1.1 Ensembl ENCODE 37.4 +33.0 32960 4.1 CTCF ESRRA ASH2L SIN3A ZIC2 RAD21 ZNF316 FOXK2 EED NFE2 P4HA3 ENSG00000206913 LOC101928580 KCNE3 ENSG00000254928 PPME1 PGM2L1 PIR36741 GC11P074254
GH11F073319 1.6 FANTOM5 Ensembl ENCODE 20 +987.8 987774 8.7 PKNOX1 WRNIP1 ZFP64 ARID4B GLIS2 ELK1 ZNF143 FOS ZNF202 SP5 ENSG00000206913 ARHGEF17 ARPC3P4 P4HA3 RELT P2RY6 FAM168A PIR54825 PIR46387
GH11F074133 1.3 Ensembl ENCODE 20.7 +173.4 173419 10.2 PKNOX1 ARID4B BRCA1 GLIS2 FOS ZNF263 REST MEF2D MIER3 SMARCA4 PPME1 P4HA3 C2CD3 UCP2 UCP3 ENSG00000206913 ENSG00000256098
GH11F074017 1.6 FANTOM5 Ensembl ENCODE 16.7 +291.0 290997 6.2 PKNOX1 ARID4B ZNF207 FOS TBX21 PPARG KAT8 MIER3 SMARCA4 KDM1A P4HA3 PPME1 PAAF1 ENSG00000254631 FAM168A UCP3 ENSG00000256098
GH11F074024 1.3 FANTOM5 Ensembl ENCODE 18.4 +285.8 285849 3.1 ZNF175 ZNF384 ZNF121 FOS CEBPB DPF2 SREBF1 ARID1B JUND ZNF589 P4HA3 ENSG00000255440 UCP3 ENSG00000256098
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around P4HA3 on UCSC Golden Path with GeneCards custom track

Promoters for P4HA3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001770065 176 1001 CTCF UBTF RAD21 E2F1 ZNF316 POLR2A SMC3 E2F6 MAFK SP3
ENSR00001571479 975 200

Genomic Location for P4HA3 Gene

74,235,801 bp from pter
74,311,676 bp from pter
75,876 bases
Minus strand

Genomic View for P4HA3 Gene

Genes around P4HA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
P4HA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for P4HA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for P4HA3 Gene

Proteins for P4HA3 Gene

  • Protein details for P4HA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Prolyl 4-hydroxylase subunit alpha-3
    Protein Accession:
    Secondary Accessions:
    • A0AV13
    • B4DUD3
    • Q5EBL3
    • Q5JPA9

    Protein attributes for P4HA3 Gene

    544 amino acids
    Molecular mass:
    61126 Da
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Name=L-ascorbate; Xref=ChEBI:CHEBI:38290;
    Quaternary structure:
    • Heterotetramer of two alpha-3 chains and two beta chains (the beta chain is the multi-functional PDI).

    Alternative splice isoforms for P4HA3 Gene


neXtProt entry for P4HA3 Gene

Selected DME Specific Peptides for P4HA3 Gene


Post-translational modifications for P4HA3 Gene

  • N-glycosylation plays no role in the catalytic activity.
  • Glycosylation at Asn 242 and Asn 482
  • Modification sites at PhosphoSitePlus

Other Protein References for P4HA3 Gene

Domains & Families for P4HA3 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 Fe2OG dioxygenase domain.
  • Belongs to the P4HA family.
  • Contains 1 TPR repeat.
  • Contains 1 Fe2OG dioxygenase domain.
  • Belongs to the P4HA family.
  • Contains 1 TPR repeat.
genes like me logo Genes that share domains with P4HA3: view

No data available for Gene Families for P4HA3 Gene

Function for P4HA3 Gene

Molecular function for P4HA3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
L-proline-[procollagen] + 2-oxoglutarate + O(2) = trans-4-hydroxy-L-proline-[procollagen] + succinate + CO(2).
UniProtKB/Swiss-Prot Function:
Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins.

Enzyme Numbers (IUBMB) for P4HA3 Gene

Gene Ontology (GO) - Molecular Function for P4HA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004656 procollagen-proline 4-dioxygenase activity IEA --
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0016491 oxidoreductase activity IEA --
GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA --
genes like me logo Genes that share ontologies with P4HA3: view
genes like me logo Genes that share phenotypes with P4HA3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for P4HA3

miRNA for P4HA3 Gene

miRTarBase miRNAs that target P4HA3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for P4HA3 Gene

Localization for P4HA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for P4HA3 Gene

Endoplasmic reticulum lumen.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for P4HA3 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for P4HA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen IEA --
genes like me logo Genes that share ontologies with P4HA3: view

Pathways & Interactions for P4HA3 Gene

genes like me logo Genes that share pathways with P4HA3: view

Pathways by source for P4HA3 Gene

Gene Ontology (GO) - Biological Process for P4HA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019511 peptidyl-proline hydroxylation IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with P4HA3: view

No data available for SIGNOR curated interactions for P4HA3 Gene

Drugs & Compounds for P4HA3 Gene

(7) Drugs for P4HA3 Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Vet_approved Pharma 0
hydroxyproline Approved, Experimental Pharma 0
Oxygen Approved, Vet_approved Pharma 0
L-Proline Approved Nutra 0
Succinic acid Approved Nutra Full agonist, Agonist 0

(2) Additional Compounds for P4HA3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate

(1) ApexBio Compounds for P4HA3 Gene

Compound Action Cas Number
DMOG Competitive HIF-PH inhibitor, cell-permeable 89464-63-1
genes like me logo Genes that share compounds with P4HA3: view

Transcripts for P4HA3 Gene

Unigene Clusters for P4HA3 Gene

Prolyl 4-hydroxylase, alpha polypeptide III:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for P4HA3 Gene

No ASD Table

Relevant External Links for P4HA3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for P4HA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for P4HA3 Gene

mRNA differential expression in normal tissues according to GTEx for P4HA3 Gene

This gene is overexpressed in Prostate (x5.9) and Artery - Coronary (x5.6).

Protein differential expression in normal tissues from HIPED for P4HA3 Gene

This gene is overexpressed in Cerebrospinal fluid (66.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for P4HA3 Gene

Protein tissue co-expression partners for P4HA3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of P4HA3 Gene:


SOURCE GeneReport for Unigene cluster for P4HA3 Gene:


mRNA Expression by UniProt/SwissProt for P4HA3 Gene:

Tissue specificity: Highly expressed in placenta, liver and fetal skin. Weakly expressed in fetal epiphyseal cartilage, fetal liver, fibroblast, lung and skeletal muscle. Expressed also in fibrous cap of carotid atherosclerotic lesions.
genes like me logo Genes that share expression patterns with P4HA3: view

Primer Products

Orthologs for P4HA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for P4HA3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia P4HA3 34 35
  • 99.88 (n)
(Canis familiaris)
Mammalia P4HA3 34 35
  • 90.87 (n)
(Bos Taurus)
Mammalia P4HA3 34 35
  • 90.07 (n)
(Mus musculus)
Mammalia P4ha3 34 16 35
  • 87.27 (n)
(Rattus norvegicus)
Mammalia P4ha3 34
  • 87.07 (n)
(Monodelphis domestica)
Mammalia P4HA3 35
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 15 (a)
(Gallus gallus)
Aves P4HA3 34 35
  • 69.14 (n)
(Anolis carolinensis)
Reptilia P4HA3 35
  • 68 (a)
(Danio rerio)
Actinopterygii p4ha3 34 35
  • 62.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta PH4alphaSG1 35
  • 33 (a)
PH4alphaNE1 35
  • 31 (a)
PH4alphaMP 35
  • 30 (a)
PH4alphaSG2 35
  • 30 (a)
PH4alphaPV 35
  • 28 (a)
CG15539 35
  • 27 (a)
CG31013 35
  • 27 (a)
CG9698 35
  • 27 (a)
CG18749 35
  • 26 (a)
CG31016 35
  • 25 (a)
PH4alphaNE2 35
  • 25 (a)
PH4alphaNE3 35
  • 25 (a)
CG11828 35
  • 24 (a)
CG15864 35
  • 24 (a)
CG31371 35
  • 24 (a)
CG31524 35
  • 24 (a)
CG32199 35
  • 24 (a)
CG34345 35
  • 24 (a)
CG18234 35
  • 23 (a)
CG32201 35
  • 23 (a)
CG18231 35
  • 22 (a)
CG18233 35
  • 22 (a)
CG4174 35
  • 22 (a)
(Caenorhabditis elegans)
Secernentea phy-4 35
  • 23 (a)
Y43F8B.19 35
  • 20 (a)
C14E2.4 35
  • 19 (a)
phy-3 35
  • 19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.423 35
  • 16 (a)
Species where no ortholog for P4HA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for P4HA3 Gene

Gene Tree for P4HA3 (if available)
Gene Tree for P4HA3 (if available)

Paralogs for P4HA3 Gene

Paralogs for P4HA3 Gene

(3) SIMAP similar genes for P4HA3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with P4HA3: view

Variants for P4HA3 Gene

Sequence variations from dbSNP and Humsavar for P4HA3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs10488771 -- 74,283,240(+) TGAAC(A/T)TTTAA intron-variant
rs10534821 -- 74,272,231(+) ACACA(-/CA)CACAC intron-variant
rs10898973 -- 74,264,988(+) GCCAG(G/T)CTGTG intron-variant
rs10898974 -- 74,275,624(+) ttgtt(C/T)ttctt intron-variant
rs10898975 -- 74,283,093(+) TTCCC(A/G)TGGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for P4HA3 Gene

Variant ID Type Subtype PubMed ID
nsv825994 CNV gain 20364138
esv3626835 CNV gain 21293372
esv3626833 CNV gain 21293372
esv3579744 CNV loss 25503493
esv34979 CNV gain 17911159
esv3364688 CNV insertion 20981092
esv3339852 CNV insertion 20981092
esv3303398 CNV mobile element insertion 20981092
esv2759837 CNV gain 17122850
dgv209e214 CNV gain 21293372

Variation tolerance for P4HA3 Gene

Residual Variation Intolerance Score: 69.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.67; 91.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for P4HA3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for P4HA3 Gene

Disorders for P4HA3 Gene

Relevant External Links for P4HA3

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for P4HA3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for P4HA3 Gene

Publications for P4HA3 Gene

  1. Identification and characterization of a third human, rat, and mouse collagen prolyl 4-hydroxylase isoenzyme. (PMID: 14500733) Kukkola L. … Myllyharju J. (J. Biol. Chem. 2003) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Cloning of a novel prolyl 4-hydroxylase subunit expressed in the fibrous cap of human atherosclerotic plaque. (PMID: 12874193) Van Den Diepstraten C. … Pickering J.G. (Circulation 2003) 3 4 64
  4. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for P4HA3 Gene

Sources for P4HA3 Gene

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