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Aliases for P4HA1 Gene

Aliases for P4HA1 Gene

  • Prolyl 4-Hydroxylase, Alpha Polypeptide I 2 3
  • P4HA 3 4 6
  • 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
  • Prolyl 4-Hydroxylase Subunit Alpha-1 3
  • 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, Alpha Polypeptide I) is a Protein Coding gene. Among its related pathways are Arginine and proline metabolism and Metabolism. GO annotations related to this gene include iron ion binding and oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of 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

Regulatory Elements for P4HA1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for P4HA1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    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; Note=Binds 1 Fe(2+) ion per subunit.;
    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

Post-translational modifications for P4HA1 Gene

  • Ubiquitination at Lys132 and Lys382
  • Glycosylation at Asn113 and Asn259
  • Modification sites at PhosphoSitePlus

Domains for P4HA1 Gene

Graphical View of Domain Structure for InterPro Entry

P13674

UniProtKB/Swiss-Prot:

P4HA1_HUMAN :
  • P13674
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

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 --
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 17500595
GO:0016491 oxidoreductase activity --
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 Model Products

CRISPR Products

miRNA for P4HA1 Gene

No data available for Animal Models , Transcription Factor Targeting 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 4
extracellular 1

Gene Ontology (GO) - Cellular Components for P4HA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005788 endoplasmic reticulum lumen IEA --
GO:0016020 membrane IDA 19946888
GO:0016222 procollagen-proline 4-dioxygenase complex IEA --
genes like me logo Genes that share ontologies with P4HA1: view

Pathways 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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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

Compounds for P4HA1 Gene

(8) HMDB Compounds for P4HA1 Gene

Compound Synonyms Cas Number PubMed IDs
Ascorbic acid
  • (+)-ascorbate
50-81-7
Carbon dioxide
  • Carbon oxide
124-38-9
Hydroxyproline
  • (2S,4R)-4-hydroxy-2-pyrrolidinecarboxylic acid
51-35-4
Iron
  • Armco iron
7439-89-6
L-Proline
  • (-)-(S)-Proline
147-85-3

(4) Drugbank Compounds for P4HA1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Hydralazine
86-54-4 target inhibitor
L-Proline
  • (-)-2-Pyrrolidinecarboxylic acid
147-85-3 target
Succinic acid
  • 1,2-Ethanedicarboxylic acid
110-15-6 target
Vitamin C
  • Ascorbate
50-81-7 target
genes like me logo Genes that share compounds with P4HA1: view

Transcripts for P4HA1 Gene

Unigene Clusters for P4HA1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for P4HA1

Primer 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

mRNA expression in normal human tissues for P4HA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Muscle - Skeletal (5.0).

Integrated Proteomics: protein expression 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 expressions with P4HA1: view

In Situ Assay Products

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia P4HA1 35
  • 99.94 (n)
  • 100 (a)
P4HA1 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia P4HA1 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia P4HA1 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia P4ha1 35
  • 88.2 (n)
  • 94.01 (a)
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
P4HA1 (1 of 3) 36
  • 73 (a)
OneToMany
p4ha1a 35
  • 70.56 (n)
  • 79.58 (a)
p4ha1a 36
  • 73 (a)
OneToMany
p4ha1b 36
  • 73 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000971 35
  • 51.47 (n)
  • 50.57 (a)
fruit fly
(Drosophila melanogaster)
Insecta PH4alphaEFB 35
  • 52.29 (n)
  • 50 (a)
PH4alphaEFB 36
  • 46 (a)
OneToMany
PH4alphaNE2 37
  • 29 (a)
CG9698 37
  • 28 (a)
PH4alphaNE1 37
  • 37 (a)
CG18233 37
  • 28 (a)
PH4alphaEFB 37
  • 52 (a)
CG18749 37
  • 28 (a)
PH4alphaMP 37
  • 33 (a)
PH4alphaSG2 37
  • 32 (a)
CG15539 37
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea dpy-18 36
  • 40 (a)
ManyToMany
phy-2 35
  • 54.45 (n)
  • 49.12 (a)
phy-2 36
  • 46 (a)
ManyToMany
phy-2 37
  • 46 (a)
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

Selected 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 MAF
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
rs1130881 -- 73,043,952(-) CTGAG(C/G)CGAGC reference, missense, intron-variant
rs1130882 -- 73,043,946(-) CGAGC(C/T)ACCAG synonymous-codon, reference, 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

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

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

Publications for P4HA1 Gene

  1. Molecular cloning of the alpha-subunit of human prolyl 4-hydroxylase: the complete cDNA-derived amino acid sequence and evidence for alternative splicing of RNA transcripts. (PMID: 2543975) Helaakoski T. … Pihlajaniemi T. (Proc. Natl. Acad. Sci. U.S.A. 1989) 3 4
  2. Assignment of the gene coding for the alpha-subunit of prolyl 4-hydroxylase to human chromosome region 10q21.3-23.1. (PMID: 2556027) Pajunen L. … Kivirikko K.I. (Am. J. Hum. Genet. 1989) 2 3
  3. Structure and expression of the human gene for the alpha subunit of prolyl 4-hydroxylase. The two alternatively spliced types of mRNA correspond to two homologous exons the sequences of which are expressed in a variety of tissues. (PMID: 7961714) Helaakoski T. … Pihlajaniemi T. (J. Biol. Chem. 1994) 3 4
  4. The order and transcriptional orientation of the human COL13A1 and P4HA genes on chromosome 10 long arm determined by high-resolution FISH. (PMID: 9417920) Horelli-Kuitunen N. … Palotie A. (Genomics 1997) 3 23
  5. PCR isolation and cloning of novel splice variant mRNAs from known drug target genes. (PMID: 15028279) Jin P. … Stuve L.L. (Genomics 2004) 3 4

Products for P4HA1 Gene

Sources for P4HA1 Gene

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