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P4HA1 Gene(Protein Coding)

Prolyl 4-Hydroxylase Subunit Alpha 1

GCID:
GC10M073007
GIFtS:
49
Genes Participants
UDN Logo

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
  • P4HA 3 4
  • 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 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.

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

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for P4HA1 Gene

Promoters and enhancers for P4HA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH10I073093 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.9 936 4.1 MLX DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 SP3 P4HA1 NUDT13 ECD DNAJB12 GLUD1P3 DUSP8P5 NDST2 ZSWIM8 SEC24C CFAP70
GH10I072352 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 EIF4A2P2 ENSG00000227540 DNAJC9 ENSG00000272599 CHST3 RPL17P50 P4HA1 DDIT4-AS1
GH10I072326 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 3.8 +764.7 764727 11.3 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 ZNF143 SP3 NFYC MEF2D DNAJB12 ECD ENSG00000227540 DNAJC9 RPL17P50 ENSG00000272599 DDIT4 PSAP P4HA1 SPOCK2
GH10I072340 Enhancer 1 ENCODE dbSUPER 3.8 +756.3 756287 0.4 HDGF PKNOX1 SMAD1 ATF1 RB1 ARID4B ZNF2 RAD21 ZNF121 ZNF143 DNAJB12 P4HA1 DDIT4-AS1
GH10I073094 Enhancer 0.4 Ensembl 0.8 +3.4 3373 0.4 ZFHX2 CEBPA MLLT1 NUDT13 ENSG00000237768 P4HA1 ENSG00000201047 GC10M073083
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around P4HA1 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for P4HA1 Gene

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

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

Protein Expression for P4HA1 Gene

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

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

  • Ubiquitination at Lys132 and Lys382
  • Glycosylation at Asn113 and Asn259

Other Protein References for P4HA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

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

Function for P4HA1 Gene

Products:

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

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 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:

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

COMPARTMENTS
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 IDA,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

2 KEGG pathways 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

Products:

  1. Drug

(8) 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 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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

(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

Drug Products

Transcripts for P4HA1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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:

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
P4HA1
ECgene alternative splicing isoforms for
P4HA1

Expression for P4HA1 Gene

Products:

  1. Primer

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

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



Protein tissue co-expression partners for P4HA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of P4HA1 Gene:

P4HA1

SOURCE GeneReport for Unigene cluster for P4HA1 Gene:

Hs.500047

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
chimpanzee
(Pan troglodytes)
 Mammalia P4HA1 33 34
  • 99.94 (n)
cow
(Bos Taurus)
 Mammalia P4HA1 33 34
  • 94.82 (n)
dog
(Canis familiaris)
 Mammalia P4HA1 33 34
  • 94.57 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia P4HA1 34
  • 91 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia P4ha1 33 16 34
  • 89.26 (n)
oppossum
(Monodelphis domestica)
 Mammalia P4HA1 34
  • 89 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia P4ha1 33
  • 88.2 (n)
chicken
(Gallus gallus)
 Aves P4HA1 33 34
  • 80.91 (n)
lizard
(Anolis carolinensis)
 Reptilia P4HA1 34
  • 85 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia p4ha1 33
  • 73.7 (n)
zebrafish
(Danio rerio)
 Actinopterygii P4HA1 (1 of 3) 34
  • 73 (a)
 OneToMany
p4ha1b 34
  • 73 (a)
 OneToMany
p4ha1a 33 34
  • 70.56 (n)
Dr.3932 33
fruit fly
(Drosophila melanogaster)
 Insecta PH4alphaEFB 33 34 35
  • 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)
CG18749 35
  • 28 (a)
CG9698 35
  • 28 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000971 33
  • 51.47 (n)
worm
(Caenorhabditis elegans)
 Secernentea phy-2 35 33 34
  • 54.45 (n)
dpy-18 34
  • 40 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 48 (a)
 ManyToMany
-- 34
  • 35 (a)
 ManyToMany
-- 34
  • 35 (a)
 ManyToMany
-- 34
  • 33 (a)
 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)

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 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)
P4HA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
P4HA1

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

  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

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Sources for P4HA1 Gene

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