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P4HA1 Gene(Protein Coding)

Prolyl 4-Hydroxylase Subunit Alpha 1

GCID:
GC10M073007
GIFtS:
58
Genes Participants
UDN Logo

Aliases for P4HA1 Gene

Aliases for P4HA1 Gene

  • Prolyl 4-Hydroxylase Subunit Alpha 1 2 3
  • Prolyl 4-Hydroxylase, Alpha Polypeptide I 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
  • Collagen Prolyl 4-Hydroxylase Alpha(I) 2 3
  • EC 1.14.11.2 4 63
  • P4HA 3 4
  • C-P4Halpha(I) 3
  • 4-PH Alpha-1 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. Among its related pathways are Arginine and proline metabolism and 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 P4HA3.

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

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

Genomics for P4HA1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for P4HA1 Gene

Enhancers for P4HA1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around P4HA1 on UCSC Golden Path with GeneCards custom track

Promoters for P4HA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around P4HA1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the P4HA1 gene promoter:

Genomic Location for P4HA1 Gene

Chromosome:
10
Start:
73,007,217 bp from pter
End:
73,096,974 bp from pter
Size:
89,758 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for P4HA1 Gene

Proteins for P4HA1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    P13674-P4HA1_HUMAN
    Recommended name:
    Prolyl 4-hydroxylase subunit alpha-1
    Protein Accession:
    P13674
    Secondary Accessions:
    • C9JL12
    • Q15082
    • Q15083
    • Q5VSQ5

    Protein attributes for P4HA1 Gene

    Size:
    534 amino acids
    Molecular mass:
    61049 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for P4HA1 Gene

Proteomics data for P4HA1 Gene at MOPED

Protein Expression for P4HA1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for P4HA1 Gene

P13674:

Post-translational modifications for P4HA1 Gene

  • Ubiquitination at Lys 132 and Lys 382
  • Glycosylation at Asn 113 and Asn 259
  • Modification sites at PhosphoSitePlus

Other Protein References for P4HA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for P4HA1

Domains & Families for P4HA1 Gene

Protein Domains for P4HA1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for P4HA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P13674

UniProtKB/Swiss-Prot:

P4HA1_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 P4HA1: view

No data available for Gene Families for P4HA1 Gene

Function for P4HA1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for P4HA1 Gene

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)
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 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 --
genes like me logo Genes that share ontologies with P4HA1: view

Phenotypes for P4HA1 Gene

MGI mutant phenotypes for P4HA1:
inferred from 1 alleles
GenomeRNAi human phenotypes for P4HA1:
genes like me logo Genes that share phenotypes with P4HA1: view

Animal Models for P4HA1 Gene

MGI Knock Outs for P4HA1:

Animal Model Products

miRNA for P4HA1 Gene

miRTarBase miRNAs that target P4HA1

Inhibitory RNA Products

Flow Cytometry Products

No data available for 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

COMPARTMENTS
Jensen Localization Image for P4HA1 Gene COMPARTMENTS Subcellular localization image for P4HA1 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 5
extracellular 1

Gene Ontology (GO) - Cellular Components for P4HA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
GO:0043231 intracellular membrane-bounded organelle IDA --
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

2 KEGG pathways for P4HA1 Gene

Gene Ontology (GO) - Biological Process for P4HA1 Gene

None

No data available for SIGNOR curated interactions for P4HA1 Gene

Drugs & Compounds for P4HA1 Gene

Products:

  1. Drug

(6) Drugs for P4HA1 Gene - From: DrugBank, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydralazine Approved Pharma Target, inhibitor 42
L-Proline Approved Nutra Target 0
Succinic acid Approved Nutra Full agonist, Agonist, Target 0
Vitamin C Approved Nutra Target 471,471
hydroxyproline Approved, Experimental Pharma 0

(4) Additional Compounds for P4HA1 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

(1) ApexBio Compounds for P4HA1 Gene

Compound Action Cas Number
DMOG Competitive HIF-PH inhibitor, cell-permeable 89464-63-1
genes like me logo Genes that share compounds with P4HA1: view

Transcripts for P4HA1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for P4HA1 Gene

(4) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(230) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for P4HA1 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for P4HA1 Gene

GeneLoc Exon Structure for
P4HA1
ECgene alternative splicing isoforms for
P4HA1

Expression for P4HA1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for P4HA1 Gene

mRNA expression in normal human tissues for P4HA1 Gene
mRNA expression by BioGPS for P4HA1 GenemRNA expression by GTEx 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, PaxDb, MOPED, and MaxQB for P4HA1 Gene



SOURCE GeneReport for Unigene cluster for P4HA1 Gene Hs.500047

genes like me logo Genes that share expression patterns with P4HA1: view

Protein tissue co-expression partners for P4HA1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
 Mammalia P4HA1 35
  • 94.82 (n)
  • 97.75 (a)
P4HA1 36
  • 96 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia P4HA1 35
  • 94.57 (n)
  • 98.31 (a)
P4HA1 36
  • 98 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia P4ha1 35
  • 89.26 (n)
  • 95.32 (a)
P4ha1 16
P4ha1 36
  • 95 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia P4HA1 35
  • 99.94 (n)
  • 100 (a)
P4HA1 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia P4ha1 35
  • 88.2 (n)
  • 94.01 (a)
oppossum
(Monodelphis domestica)
 Mammalia P4HA1 36
  • 89 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia P4HA1 36
  • 91 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves P4HA1 35
  • 80.91 (n)
  • 87.9 (a)
P4HA1 36
  • 86 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia P4HA1 36
  • 85 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia p4ha1 35
  • 73.7 (n)
  • 81.75 (a)
zebrafish
(Danio rerio)
 Actinopterygii Dr.3932 35
p4ha1a 35
  • 70.56 (n)
  • 79.58 (a)
P4HA1 (1 of 3) 36
  • 73 (a)
 OneToMany
p4ha1a 36
  • 73 (a)
 OneToMany
p4ha1b 36
  • 73 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta CG15539 37
  • 30 (a)
CG18233 37
  • 28 (a)
CG18749 37
  • 28 (a)
CG9698 37
  • 28 (a)
PH4alphaEFB 37
  • 52 (a)
PH4alphaMP 37
  • 33 (a)
PH4alphaNE1 37
  • 37 (a)
PH4alphaNE2 37
  • 29 (a)
PH4alphaSG2 37
  • 32 (a)
PH4alphaEFB 35
  • 52.29 (n)
  • 50 (a)
PH4alphaEFB 36
  • 46 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000971 35
  • 51.47 (n)
  • 50.57 (a)
worm
(Caenorhabditis elegans)
 Secernentea phy-2 37
  • 46 (a)
phy-2 35
  • 54.45 (n)
  • 49.12 (a)
dpy-18 36
  • 40 (a)
 ManyToMany
phy-2 36
  • 46 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 48 (a)
 ManyToMany
-- 36
  • 35 (a)
 ManyToMany
-- 36
  • 35 (a)
 ManyToMany
-- 36
  • 33 (a)
 ManyToMany
Species with no ortholog for P4HA1:
  • 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

ENSEMBL:
Gene Tree for P4HA1 (if available)
TreeFam:
Gene Tree for P4HA1 (if available)

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 Sequence Context AA Info Type
rs8380 -- 73,007,577(-) TTTAA(C/T)GGAAA utr-variant-3-prime
rs10306 -- 73,007,644(-) TTTCT(C/T)TTAGC utr-variant-3-prime
rs12971 -- 73,007,636(-) AGCTC(C/T)TCTGT utr-variant-3-prime
rs1804257 -- 73,008,115(-) ATGAT(C/G/T)GATTC utr-variant-3-prime
rs3065972 -- 73,095,523(-) TTTTT(-/TT)AAAGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv528473 CNV Gain 19592680
nsv895724 CNV Gain 21882294
nsv895725 CNV Loss 21882294
nsv895726 CNV Loss 21882294
esv2738407 CNV Deletion 23290073
nsv527219 CNV Loss 19592680
esv2591982 CNV Deletion 19546169
esv1950559 CNV Deletion 18987734
esv3968 CNV Deletion 18987735
esv2738418 CNV Deletion 23290073
esv9433 CNV Loss 19470904

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)

Relevant External Links for P4HA1 Gene

HapMap Linkage Disequilibrium report
P4HA1

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

Disorders for P4HA1 Gene

Relevant External Links for P4HA1

Genetic Association Database (GAD)
P4HA1
Human Genome Epidemiology (HuGE) Navigator
P4HA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
P4HA1

No disorders were found for P4HA1 Gene.

No data available for MalaCards , 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 J.E. … Uhl G.R. (Mol. Med. 2010) 3 48 67
  2. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  3. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  4. Novel mechanism of action for hydralazine: induction of hypoxia-inducible factor-1alpha, vascular endothelial growth factor, and angiogenesis by inhibition of prolyl hydroxylases. (PMID: 15192023) Knowles H.J. … Harris A.L. (Circ. Res. 2004) 25 26
  5. TTD: Therapeutic Target Database. (PMID: 11752352) Chen X. … Chen Y.Z. (Nucleic Acids Res. 2002) 25 26

Products for P4HA1 Gene

Sources for P4HA1 Gene

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