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Aliases for P4HA1 Gene

Aliases for P4HA1 Gene

  • Prolyl 4-Hydroxylase Subunit Alpha 1 2 3 5
  • Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Alpha Polypeptide I 2 3
  • Procollagen-Proline,2-Oxoglutarate-4-Dioxygenase Subunit Alpha-1 3 4
  • Prolyl 4-Hydroxylase, Alpha Polypeptide I 2 3
  • Collagen Prolyl 4-Hydroxylase Alpha(I) 2 3
  • P4HA 3 4
  • Prolyl 4-Hydroxylase Subunit Alpha-1 3
  • C-P4Halpha(I) 3
  • 4-PH Alpha-1 4
  • EC 4

External Ids for P4HA1 Gene

Previous HGNC Symbols for P4HA1 Gene

  • P4HA

Previous GeneCards Identifiers for P4HA1 Gene

  • GC10M073545
  • GC10M073870
  • GC10M074660
  • GC10M074111
  • GC10M074436
  • GC10M074767
  • GC10M068760
  • GC10M074769

Summaries for P4HA1 Gene

Entrez Gene Summary for P4HA1 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. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for P4HA1 Gene

P4HA1 (Prolyl 4-Hydroxylase Subunit Alpha 1) is a Protein Coding gene. Diseases associated with P4HA1 include Musculocontractural Ehlers-Danlos Syndrome. 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 P4HA2.

UniProtKB/Swiss-Prot for P4HA1 Gene

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

Gene Wiki entry for P4HA1 Gene

Additional gene information for P4HA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for P4HA1 Gene

Genomics for P4HA1 Gene

GeneHancer (GH) Regulatory Elements for P4HA1 Gene

Promoters and enhancers for P4HA1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J073093 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.9 936 4.1 MLX DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 SP3 P4HA1 ECD NDST2 DNAJB12 ZSWIM8 GLUD1P3 NUDT13 DUSP8P5 SEC24C ZSWIM8-AS1
GH10J072352 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 3.9 +742.7 742734 3 CLOCK FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 MEF2D DNAJB12 ECD ENSG00000227540 HMGN2P34 CDH23-AS1 DNAJC9 ENSG00000272599 CHST3 EIF4A2P2 NPM1P24
GH10J072326 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 3.8 +764.7 764727 11.3 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 ZNF143 SP3 NFYC MEF2D DNAJB12 ECD ENSG00000227540 HMGN2P34 CDH23-AS1 DNAJC9 RPL17P50 ENSG00000272599 DDIT4 PSAP
GH10J072340 Enhancer 1 ENCODE dbSUPER 3.8 +756.3 756287 0.4 HDGF PKNOX1 SMAD1 ATF1 RB1 ARID4B SIN3A ZNF2 RAD21 ZNF121 DNAJB12 P4HA1 DDIT4-AS1
GH10J073094 Enhancer 0.4 Ensembl 0.7 +3.4 3373 0.4 ZFHX2 CEBPA MLLT1 NUDT13 ENSG00000237768 P4HA1 GC10M073083 ENSG00000201047
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around P4HA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the P4HA1 gene promoter:
  • MAZR
  • Tal-1beta
  • E47
  • HFH-1
  • CUTL1
  • RP58
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3

Genomic Locations for P4HA1 Gene

Genomic Locations for P4HA1 Gene
89,758 bases
Minus strand
89,758 bases
Minus strand

Genomic View for P4HA1 Gene

Genes around P4HA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
P4HA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for P4HA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for P4HA1 Gene

Proteins for P4HA1 Gene

  • Protein details for P4HA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Prolyl 4-hydroxylase subunit alpha-1
    Protein Accession:
    Secondary Accessions:
    • C9JL12
    • Q15082
    • Q15083
    • Q5VSQ5

    Protein attributes for P4HA1 Gene

    534 amino acids
    Molecular mass:
    61049 Da
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Name=L-ascorbate; Xref=ChEBI:CHEBI:38290;
    Quaternary structure:
    • Heterotetramer of two alpha-1 chains and two beta chains (the beta chain is the multi-functional PDI).

    Three dimensional structures from OCA and Proteopedia for P4HA1 Gene

    Alternative splice isoforms for P4HA1 Gene


neXtProt entry for P4HA1 Gene

Post-translational modifications for P4HA1 Gene

  • Glycosylation at Asn259 and isoforms=2, 3113
  • Ubiquitination at isoforms=3382 and Lys132
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for P4HA1 Gene

Domains & Families for P4HA1 Gene

Gene Families for P4HA1 Gene

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

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the P4HA family.
  • Belongs to the P4HA family.
genes like me logo Genes that share domains with P4HA1: view

Function for P4HA1 Gene

Molecular function for P4HA1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins.
UniProtKB/Swiss-Prot CatalyticActivity:
L-proline-[procollagen] + 2-oxoglutarate + O(2) = trans-4-hydroxy-L-proline-[procollagen] + succinate + CO(2).
GENATLAS Biochemistry:
procollagen-proline,2-oxoglutarate 4-dioxygenase (prolyl-4-hydroxylase),alpha polypeptide,isoform 1,component of the heterodimer (alpha 1) 2,beta 2,type I,enzyme inhibited by poly (L-proline)

Enzyme Numbers (IUBMB) for P4HA1 Gene

Gene Ontology (GO) - Molecular Function for P4HA1 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 17500595
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 P4HA1: view
genes like me logo Genes that share phenotypes with P4HA1: view

Animal Models for P4HA1 Gene

MGI Knock Outs for P4HA1:

Animal Model Products

CRISPR Products

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for P4HA1 Gene

Localization for P4HA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for P4HA1 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 P4HA1 gene
Compartment Confidence
mitochondrion 5
endoplasmic reticulum 5
extracellular 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Mitochondria (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for P4HA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005581 collagen trimer IEA --
GO:0005739 mitochondrion IDA --
GO:0005783 endoplasmic reticulum TAS,IDA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with P4HA1: view

Pathways & Interactions for P4HA1 Gene

genes like me logo Genes that share pathways with P4HA1: view

Pathways by source for P4HA1 Gene

Gene Ontology (GO) - Biological Process for P4HA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018401 peptidyl-proline hydroxylation to 4-hydroxy-L-proline IEA --
GO:0030199 collagen fibril organization IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with P4HA1: view

No data available for SIGNOR curated interactions for P4HA1 Gene

Drugs & Compounds for P4HA1 Gene

(10) Drugs for P4HA1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydralazine Approved Pharma Target, inhibitor 46
L-Proline Approved Nutra Target 0
Succinic acid Approved Nutra Full agonist, Agonist, Target 0
Vitamin C Approved Nutra Target 581,581
Ferrous sulfate Approved, Experimental Pharma Enzyme 0

(1) Additional Compounds for P4HA1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
genes like me logo Genes that share compounds with P4HA1: view

Transcripts for P4HA1 Gene

mRNA/cDNA for P4HA1 Gene

Unigene Clusters for P4HA1 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for P4HA1 Gene

No ASD Table

Relevant External Links for P4HA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for P4HA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for P4HA1 Gene

mRNA differential expression in normal tissues according to GTEx for P4HA1 Gene

This gene is overexpressed in Muscle - Skeletal (x5.0).

Protein differential expression in normal tissues from HIPED for P4HA1 Gene

This gene is overexpressed in Bone marrow stromal cell (16.0), Testis (7.6), and Pancreas (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for P4HA1 Gene

Protein tissue co-expression partners for P4HA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of P4HA1 Gene:


SOURCE GeneReport for Unigene cluster for P4HA1 Gene:


Evidence on tissue expression from TISSUES for P4HA1 Gene

  • Liver(4.4)
  • Nervous system(4.4)
  • Blood(2.7)
genes like me logo Genes that share expression patterns with P4HA1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for P4HA1 Gene

Orthologs for P4HA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for P4HA1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia P4HA1 34 33
  • 99.94 (n)
(Bos Taurus)
Mammalia P4HA1 34 33
  • 94.82 (n)
(Canis familiaris)
Mammalia P4HA1 34 33
  • 94.57 (n)
(Ornithorhynchus anatinus)
Mammalia P4HA1 34
  • 91 (a)
(Mus musculus)
Mammalia P4ha1 16 34 33
  • 89.26 (n)
(Monodelphis domestica)
Mammalia P4HA1 34
  • 89 (a)
(Rattus norvegicus)
Mammalia P4ha1 33
  • 88.2 (n)
(Gallus gallus)
Aves P4HA1 34 33
  • 80.91 (n)
(Anolis carolinensis)
Reptilia P4HA1 34
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia p4ha1 33
  • 73.7 (n)
(Danio rerio)
Actinopterygii P4HA1 (1 of 3) 34
  • 73 (a)
p4ha1b 34
  • 73 (a)
p4ha1a 34 33
  • 70.56 (n)
Dr.3932 33
fruit fly
(Drosophila melanogaster)
Insecta PH4alphaEFB 34 35 33
  • 52.29 (n)
PH4alphaNE1 35
  • 37 (a)
PH4alphaMP 35
  • 33 (a)
PH4alphaSG2 35
  • 32 (a)
CG15539 35
  • 30 (a)
PH4alphaNE2 35
  • 29 (a)
CG18233 35
  • 28 (a)
CG9698 35
  • 28 (a)
CG18749 35
  • 28 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000971 33
  • 51.47 (n)
(Caenorhabditis elegans)
Secernentea phy-2 34 35 33
  • 54.45 (n)
dpy-18 34
  • 40 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
-- 34
  • 35 (a)
-- 34
  • 35 (a)
-- 34
  • 33 (a)
Species where no ortholog for P4HA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for P4HA1 Gene

Gene Tree for P4HA1 (if available)
Gene Tree for P4HA1 (if available)
Evolutionary constrained regions (ECRs) for P4HA1: view image

Paralogs for P4HA1 Gene

Paralogs for P4HA1 Gene

(3) SIMAP similar genes for P4HA1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with P4HA1: view

Variants for P4HA1 Gene

Sequence variations from dbSNP and Humsavar for P4HA1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000021879 -- 73,097,663(-) A/C upstream_transcript_variant
rs1000052993 -- 73,097,197(-) T/C upstream_transcript_variant
rs1000056416 -- 73,059,181(-) T/C intron_variant
rs1000080456 -- 73,021,320(-) A/G intron_variant
rs1000112418 -- 73,013,270(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for P4HA1 Gene

Variant ID Type Subtype PubMed ID
esv1950559 CNV deletion 18987734
esv2591982 CNV deletion 19546169
esv2738407 CNV deletion 23290073
esv2738418 CNV deletion 23290073
esv3546499 CNV deletion 23714750
esv3546501 CNV deletion 23714750
esv3623809 CNV loss 21293372
esv3968 CNV loss 18987735
esv9433 CNV loss 19470904
nsv1069492 CNV deletion 25765185
nsv1069498 CNV deletion 25765185
nsv1137940 CNV deletion 24896259
nsv1152378 CNV deletion 26484159
nsv527219 CNV loss 19592680
nsv528473 CNV gain 19592680
nsv948064 CNV duplication 23825009
nsv955813 CNV deletion 24416366

Variation tolerance for P4HA1 Gene

Residual Variation Intolerance Score: 29.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.51; 29.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for P4HA1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for P4HA1 Gene

Disorders for P4HA1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for P4HA1 Gene - From: Orphanet

Disorder Aliases PubMed IDs
musculocontractural ehlers-danlos syndrome
  • adducted thumb-clubfoot syndrome
- elite association - COSMIC cancer census association via MalaCards
Search P4HA1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for P4HA1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with P4HA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for P4HA1 Gene

Publications for P4HA1 Gene

  1. 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
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. PCR isolation and cloning of novel splice variant mRNAs from known drug target genes. (PMID: 15028279) Jin P … Stuve LL (Genomics 2004) 3 4 58

Products for P4HA1 Gene

Sources for P4HA1 Gene

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