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
- EC 1.14.11.2 4 56
External Ids for P4HA1 Gene
- HGNC: 8546
- Entrez Gene: 5033
- Ensembl: ENSG00000122884
- OMIM: 176710
- UniProtKB: P13674
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
-
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 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.
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
Regulatory Element Products
Genomic Locations for P4HA1 Gene
- chr10:73,007,217-73,096,974
- (GRCh38/hg38)
- Size:
- 89,758 bases
- Orientation:
- Minus strand
- chr10:74,766,975-74,856,732
- (GRCh37/hg19)
Genomic View for P4HA1 Gene
- Cytogenetic band:
-
- 10q22.1 by Ensembl
- 10q22.1 by Entrez Gene
- 10q22.1 by HGNC


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
- 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
Protein Expression for P4HA1 Gene
Selected DME Specific Peptides for P4HA1 Gene
- P13674:
-
- TATKDPEGF
- YRISKSAWL
- SKSAWLSGYE
- KYFEYIMAKEK
- LKDYIKAEE
- KALLRLQDTYNLDTDT
- LQVANYG
- PHFDFARK
- LDYLSYAV
- GTAVFWYN
- KWVSNKW
- NAFKLMKRLNTEW
- GGQYEPHFDF
- KLEQIKKWAEKLD
- KYEMLCRGEG
- FPNDEDQ
- LWMEQAL
- FFTSIGQMTDLI
- GQEFRRPC
- LPGVKHKSFLT
- LLELDPEHQRANGN
- KQEDEWDKPRI
Post-translational modifications for P4HA1 Gene
Other Protein References for P4HA1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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Domains & Families for P4HA1 Gene
Gene Families for P4HA1 Gene
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted secreted proteins
Protein Domains for P4HA1 Gene
Suggested Antigen Peptide Sequences for P4HA1 Gene
Graphical View of Domain Structure for InterPro Entry
P13674- Family:
-
- Belongs to the P4HA family.
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
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 | -- |
Phenotypes for P4HA1 Gene
- MGI mutant phenotypes for P4HA1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for P4HA1:
Animal Models for P4HA1 Gene
- MGI Knock Outs for P4HA1:
-
- P4ha1 tm1Jomy
Animal Model Products
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miRNA for P4HA1 Gene
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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.
- Endoplasmic reticulum (3)
- Mitochondria (2)
- Vesicles (2)
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 | IDA,HDA | 19946888 |
Pathways & Interactions for P4HA1 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Collagen chain trimerization | ||
2 | Arginine and proline metabolism | ||
3 | Metabolism | ||
4 | Degradation of the extracellular matrix |
Pathways by source for P4HA1 Gene
3 Reactome pathways for P4HA1 Gene
2 KEGG pathways for P4HA1 Gene
Interacting Proteins 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 | -- |
No data available for SIGNOR curated interactions for P4HA1 Gene
Drugs & Compounds for P4HA1 Gene
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 | ||
Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Fe2+ |
|
15438-31-0 |
|
|||
Oxoglutaric acid |
|
328-50-7 |
|
(1) ApexBio Compounds for P4HA1 Gene
Compound | Action | Cas Number |
---|---|---|
DMOG | Competitive HIF-PH inhibitor, cell-permeable | 89464-63-1 |
Transcripts for P4HA1 Gene
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
CRISPR Products
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Expression for P4HA1 Gene
mRNA differential expression in normal tissues according to GTEx for P4HA1 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for P4HA1 Gene
NURSA nuclear receptor signaling pathways regulating expression of P4HA1 Gene:
P4HA1SOURCE GeneReport for Unigene cluster for P4HA1 Gene:
Hs.500047Evidence on tissue expression from TISSUES for P4HA1 Gene
- Liver(4.4)
- Nervous system(4.4)
- Blood(2.7)
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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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | P4HA1 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | P4HA1 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | P4HA1 33 34 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | P4HA1 34 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | P4ha1 33 16 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | P4HA1 34 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | P4ha1 33 |
|
||
chicken (Gallus gallus) |
Aves | P4HA1 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | P4HA1 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | p4ha1 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | P4HA1 (1 of 3) 34 |
|
OneToMany | |
p4ha1b 34 |
|
OneToMany | |||
p4ha1a 33 34 |
|
||||
Dr.3932 33 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | PH4alphaEFB 33 34 35 |
|
||
PH4alphaNE1 35 |
|
|
|||
PH4alphaMP 35 |
|
|
|||
PH4alphaSG2 35 |
|
|
|||
CG15539 35 |
|
|
|||
PH4alphaNE2 35 |
|
|
|||
CG18233 35 |
|
|
|||
CG18749 35 |
|
|
|||
CG9698 35 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000971 33 |
|
||
worm (Caenorhabditis elegans) |
Secernentea | phy-2 35 33 34 |
|
||
dpy-18 34 |
|
ManyToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany | |
-- 34 |
|
ManyToMany | |||
-- 34 |
|
ManyToMany | |||
-- 34 |
|
ManyToMany |
- 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)
Paralogs for P4HA1 Gene
(3) SIMAP similar genes for P4HA1 Gene using alignment to 2 proteins:
Variants 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 |
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 |
Additional Variant Information for P4HA1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for P4HA1 Gene
Disorders for P4HA1 Gene
Additional Disease Information for P4HA1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for P4HA1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for P4HA1 Gene
Publications for P4HA1 Gene
- 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
- 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
- The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58
- 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
- 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
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Sources for P4HA1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
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