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Aliases for P4HA3 Gene

Aliases for P4HA3 Gene

  • Prolyl 4-Hydroxylase Subunit Alpha 3 2 3
  • Prolyl 4-Hydroxylase, Alpha Polypeptide III 2 5
  • EC 1.14.11.2 4 63
  • Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Alpha Polypeptide III 2
  • Procollagen-Proline,2-Oxoglutarate-4-Dioxygenase Subunit Alpha-3 4
  • 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 Metabolism and Arginine and proline metabolism. 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 P4HA2.

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

Promoters for P4HA3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around P4HA3 on UCSC Golden Path with GeneCards custom track

Genomic Location for P4HA3 Gene

Chromosome:
11
Start:
74,235,801 bp from pter
End:
74,311,676 bp from pter
Size:
75,876 bases
Orientation:
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:
    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

Proteomics data for P4HA3 Gene at MOPED

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

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for P4HA3

Domains & Families for P4HA3 Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z4N8

UniProtKB/Swiss-Prot:

P4HA3_HUMAN :
  • Contains 1 Fe2OG dioxygenase domain.
  • Belongs to the P4HA family.
  • Contains 1 TPR repeat.
Domain:
  • Contains 1 Fe2OG dioxygenase domain.
Family:
  • Belongs to the P4HA family.
Similarity:
  • 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:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular 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

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
Jensen Localization Image for P4HA3 Gene COMPARTMENTS Subcellular localization image for P4HA3 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 3
lysosome 1
mitochondrion 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components 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

2 KEGG pathways for P4HA3 Gene

Gene Ontology (GO) - Biological Process for P4HA3 Gene

None

No data available for SIGNOR curated interactions for P4HA3 Gene

Drugs & Compounds for P4HA3 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
hydroxyproline Approved, Experimental Pharma 0
L-Proline Approved Nutra 0
Succinic acid Approved Nutra Full agonist, Agonist 0
Vitamin C Approved Nutra 424,424
DMOG Pharma Competitive HIF-PH inhibitor, cell-permeable, Prolyl hydroxylase inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
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
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
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:

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 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, MOPED, and MaxQB for P4HA3 Gene



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.
genes like me logo Genes that share expression patterns with P4HA3: view

Protein tissue co-expression partners for P4HA3 Gene

- Elite partner

Primer Products

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia P4HA3 36
  • 84 (a)
OneToOne
P4HA3 35
  • 99.88 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia P4HA3 36
  • 92 (a)
OneToOne
P4HA3 35
  • 90.07 (n)
  • 91.54 (a)
dog
(Canis familiaris)
Mammalia P4HA3 35
  • 90.87 (n)
  • 93.01 (a)
P4HA3 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia P4ha3 16
P4ha3 35
  • 87.27 (n)
  • 89.3 (a)
P4ha3 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia P4HA3 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 15 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia P4ha3 35
  • 87.07 (n)
  • 88.42 (a)
chicken
(Gallus gallus)
Aves P4HA3 35
  • 69.14 (n)
  • 68.95 (a)
P4HA3 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia P4HA3 36
  • 68 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii p4ha3 36
  • 53 (a)
OneToOne
p4ha3 35
  • 62.05 (n)
  • 59.84 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11828 36
  • 24 (a)
ManyToMany
CG15539 36
  • 27 (a)
ManyToMany
CG15864 36
  • 24 (a)
ManyToMany
CG18231 36
  • 22 (a)
ManyToMany
CG18233 36
  • 22 (a)
ManyToMany
CG18234 36
  • 23 (a)
ManyToMany
CG18749 36
  • 26 (a)
ManyToMany
CG31013 36
  • 27 (a)
ManyToMany
CG31016 36
  • 25 (a)
ManyToMany
CG31371 36
  • 24 (a)
ManyToMany
CG31524 36
  • 24 (a)
ManyToMany
CG32199 36
  • 24 (a)
ManyToMany
CG32201 36
  • 23 (a)
ManyToMany
CG34345 36
  • 24 (a)
ManyToMany
CG4174 36
  • 22 (a)
ManyToMany
CG9698 36
  • 27 (a)
ManyToMany
PH4alphaMP 36
  • 30 (a)
ManyToMany
PH4alphaNE1 36
  • 31 (a)
ManyToMany
PH4alphaNE2 36
  • 25 (a)
ManyToMany
PH4alphaNE3 36
  • 25 (a)
ManyToMany
PH4alphaPV 36
  • 28 (a)
ManyToMany
PH4alphaSG1 36
  • 33 (a)
ManyToMany
PH4alphaSG2 36
  • 30 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C14E2.4 36
  • 19 (a)
ManyToMany
phy-3 36
  • 19 (a)
ManyToMany
phy-4 36
  • 23 (a)
ManyToMany
Y43F8B.19 36
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.423 36
  • 16 (a)
ManyToMany
Species with no ortholog for P4HA3:
  • 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 Sequence Context AA Info Type
rs2282488 - 74,277,122(-) CTGTT(A/G)ACCCA intron-variant, nc-transcript-variant, reference, missense
rs500398 -- 74,275,888(+) aaagt(C/T)atgga intron-variant
rs488893 -- 74,282,942(+) GCCCA(A/G)CGAAG intron-variant
rs542628 -- 74,300,908(-) agaat(A/G)tacca intron-variant
rs517251 -- 74,271,554(+) acagg(G/T)tctca intron-variant

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

Variant ID Type Subtype PubMed ID
dgv397e1 CNV Complex 17122850
esv34979 CNV Gain 17911159
nsv825994 CNV Gain 20364138
esv267677 CNV Insertion 20981092

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

HapMap Linkage Disequilibrium report
P4HA3

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)
P4HA3
Human Genome Epidemiology (HuGE) Navigator
P4HA3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
P4HA3

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 67
  2. 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
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3
  5. 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

Products for P4HA3 Gene

Sources for P4HA3 Gene

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