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Aliases for P4HA3 Gene

Aliases for P4HA3 Gene

  • Prolyl 4-Hydroxylase Subunit Alpha 3 2 3 5
  • EC 1.14.11.2 4 56
  • 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 Collagen chain trimerization and Arginine and proline metabolism. Gene Ontology (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.

Additional gene information for P4HA3 Gene

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

Genomics for P4HA3 Gene

GeneHancer (GH) Regulatory Elements for P4HA3 Gene

Promoters and enhancers for P4HA3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I074311 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 569 +0.1 72 0.7 CTCF RB1 E2F1 CTBP1 POLR2A VEZF1 EZH2 SP3 L3MBTL2 NRF1 P4HA3 P4HA3-AS1
GH11I074169 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 20.5 +140.2 140216 3.5 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B NEUROD1 SIN3A YBX1 DMAP1 PPME1 C2CD3 GC11P074171 POLD3 ENSG00000206913 RNF169 P4HA3 PAAF1 RN7SL239P
GH11I074276 Enhancer 0.9 Ensembl ENCODE 37.4 +33.0 32959 4.1 SIN3A CTBP1 ZNF316 POLR2A FOSL2 FOS NFE2 NFE2L2 MAFG REST P4HA3 ENSG00000206913 P4HA3-AS1 KCNE3 ENSG00000254928 PPME1 PGM2L1 GC11P074254 PIR36741
GH11I074133 Enhancer 1.3 Ensembl ENCODE dbSUPER 20.7 +173.4 173419 10.2 FOXA2 ARID4B SIN3A BRCA1 GLIS2 FOS DEK REST ZNF592 MIER3 PPME1 P4HA3 C2CD3 UCP3 UCP2 ENSG00000206913 ENSG00000256098
GH11I074017 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.7 +291.1 291052 6.1 PKNOX1 FOXA2 ARID4B YY1 FOS RUNX3 RXRA PPARG KAT8 NFIL3 P4HA3 PPME1 PAAF1 ENSG00000254631 FAM168A UCP3 ENSG00000256098 C2CD3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around P4HA3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the P4HA3 gene promoter:

Genomic Locations for P4HA3 Gene

Genomic Locations for P4HA3 Gene
chr11:74,235,801-74,311,676
(GRCh38/hg38)
Size:
75,876 bases
Orientation:
Minus strand
chr11:73,946,846-74,022,702
(GRCh37/hg19)

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:
    Q7Z4N8-P4HA3_HUMAN
    Recommended name:
    Prolyl 4-hydroxylase subunit alpha-3
    Protein Accession:
    Q7Z4N8
    Secondary Accessions:
    • A0AV13
    • B4DUD3
    • Q5EBL3
    • Q5JPA9

    Protein attributes for P4HA3 Gene

    Size:
    544 amino acids
    Molecular mass:
    61126 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for P4HA3 Gene

Selected DME Specific Peptides for P4HA3 Gene

Q7Z4N8:
  • NAALFWWNLHRSGEGD
  • ARNVLKYE
  • YRISKSAWL
  • LAEPWLQRSVVASGEKQL
  • GNRVATF
  • NYGIGGHY
  • GQEFRRPC
  • PHLQTRDTYEGLCQTLGSQPT
  • YMLNVKGLA
  • IPSLYCSYET
  • LYHDFVSD

Post-translational modifications for P4HA3 Gene

Other Protein References for P4HA3 Gene

Domains & Families for P4HA3 Gene

Gene Families for P4HA3 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

Q7Z4N8

UniProtKB/Swiss-Prot:

P4HA3_HUMAN :
  • Belongs to the P4HA family.
Family:
  • Belongs to the P4HA family.
genes like me logo Genes that share domains with P4HA3: view

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

Phenotypes From GWAS Catalog 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

miRNA for P4HA3 Gene

miRTarBase miRNAs that target P4HA3

Clone 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

COMPARTMENTS
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 TAS --
genes like me logo Genes that share ontologies with P4HA3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for P4HA3 Gene

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, Investigational, 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
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
328-50-7

(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

Drug Products

Transcripts for P4HA3 Gene

mRNA/cDNA for P4HA3 Gene

(2) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for P4HA3 Gene

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

Clone Products

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

No ASD Table

Relevant External Links for P4HA3 Gene

GeneLoc Exon Structure for
P4HA3
ECgene alternative splicing isoforms for
P4HA3

Expression for P4HA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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:

P4HA3

SOURCE GeneReport for Unigene cluster for P4HA3 Gene:

Hs.660541

mRNA Expression by UniProt/SwissProt for P4HA3 Gene:

Q7Z4N8-P4HA3_HUMAN
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.

Evidence on tissue expression from TISSUES for P4HA3 Gene

  • Heart(4.2)
  • Muscle(4.2)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with P4HA3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for P4HA3 Gene

Orthologs for P4HA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for P4HA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia P4HA3 33 34
  • 99.88 (n)
dog
(Canis familiaris)
Mammalia P4HA3 33 34
  • 90.87 (n)
cow
(Bos Taurus)
Mammalia P4HA3 33 34
  • 90.07 (n)
mouse
(Mus musculus)
Mammalia P4ha3 33 16 34
  • 87.27 (n)
rat
(Rattus norvegicus)
Mammalia P4ha3 33
  • 87.07 (n)
oppossum
(Monodelphis domestica)
Mammalia P4HA3 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 15 (a)
ManyToMany
chicken
(Gallus gallus)
Aves P4HA3 33 34
  • 69.14 (n)
lizard
(Anolis carolinensis)
Reptilia P4HA3 34
  • 68 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii p4ha3 33 34
  • 62.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta PH4alphaSG1 34
  • 33 (a)
ManyToMany
PH4alphaNE1 34
  • 31 (a)
ManyToMany
PH4alphaMP 34
  • 30 (a)
ManyToMany
PH4alphaSG2 34
  • 30 (a)
ManyToMany
PH4alphaPV 34
  • 28 (a)
ManyToMany
CG15539 34
  • 27 (a)
ManyToMany
CG31013 34
  • 27 (a)
ManyToMany
CG9698 34
  • 27 (a)
ManyToMany
CG18749 34
  • 26 (a)
ManyToMany
CG31016 34
  • 25 (a)
ManyToMany
PH4alphaNE2 34
  • 25 (a)
ManyToMany
PH4alphaNE3 34
  • 25 (a)
ManyToMany
CG11828 34
  • 24 (a)
ManyToMany
CG15864 34
  • 24 (a)
ManyToMany
CG31371 34
  • 24 (a)
ManyToMany
CG31524 34
  • 24 (a)
ManyToMany
CG32199 34
  • 24 (a)
ManyToMany
CG34345 34
  • 24 (a)
ManyToMany
CG18234 34
  • 23 (a)
ManyToMany
CG32201 34
  • 23 (a)
ManyToMany
CG18231 34
  • 22 (a)
ManyToMany
CG18233 34
  • 22 (a)
ManyToMany
CG4174 34
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea phy-4 34
  • 23 (a)
ManyToMany
Y43F8B.19 34
  • 20 (a)
ManyToMany
C14E2.4 34
  • 19 (a)
ManyToMany
phy-3 34
  • 19 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.423 34
  • 16 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for P4HA3 (if available)
TreeFam:
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 Variation AA Info Type
rs1000007787 -- 74,260,391(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000013050 -- 74,277,387(-) G/A intron_variant
rs1000173339 -- 74,282,235(-) G/C intron_variant
rs1000212695 -- 74,271,629(-) G/A intron_variant
rs1000287210 -- 74,306,770(-) C/A genic_upstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information for P4HA3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
P4HA3

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

Disorders for P4HA3 Gene

Additional Disease Information for P4HA3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 (The Journal of biological chemistry 2003) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  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 JG (Circulation 2003) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 58

Products for P4HA3 Gene

Sources for P4HA3 Gene

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