Human Gene P4HA1 (ENST00000307116.6) from GENCODE V44
  Description: Catalyzes the post-translational formation of 4- hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins. (from UniProt P13674)
RefSeq Summary (NM_001017962): 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].
Gencode Transcript: ENST00000307116.6
Gencode Gene: ENSG00000122884.13
Transcript (Including UTRs)
   Position: hg38 chr10:73,007,217-73,096,850 Size: 89,634 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg38 chr10:73,008,222-73,074,883 Size: 66,662 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:73,007,217-73,096,850)mRNA (may differ from genome)Protein (534 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: P4HA1_HUMAN
DESCRIPTION: RecName: Full=Prolyl 4-hydroxylase subunit alpha-1; Short=4-PH alpha-1; EC=1.14.11.2; AltName: Full=Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-1; Flags: Precursor;
FUNCTION: Catalyzes the post-translational formation of 4- hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins.
CATALYTIC ACTIVITY: L-proline-[procollagen] + 2-oxoglutarate + O(2) = trans-4-hydroxy-L-proline-[procollagen] + succinate + CO(2).
COFACTOR: Binds 1 Fe(2+) ion per subunit.
COFACTOR: Ascorbate.
SUBUNIT: Heterotetramer of two alpha-1 chains and two beta chains (the beta chain is the multi-functional PDI).
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen.
SIMILARITY: Belongs to the P4HA family.
SIMILARITY: Contains 1 Fe2OG dioxygenase domain.
SIMILARITY: Contains 1 TPR repeat.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 63.17 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 641.98 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -38.30117-0.327 Picture PostScript Text
3' UTR -223.201005-0.222 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005123 - Oxoglu/Fe-dep_dioxygenase
IPR006620 - Pro_4_hyd_alph
IPR013547 - Pro_4_hyd_alph_N
IPR013026 - TPR-contain_dom
IPR011990 - TPR-like_helical
IPR019734 - TPR_repeat

Pfam Domains:
PF03171 - 2OG-Fe(II) oxygenase superfamily
PF08336 - Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1TJC - X-ray MuPIT 2V5F - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P13674
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004656 procollagen-proline 4-dioxygenase activity
GO:0005506 iron ion binding
GO:0005515 protein binding
GO:0016491 oxidoreductase activity
GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0031418 L-ascorbic acid binding
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0051213 dioxygenase activity

Biological Process:
GO:0018401 peptidyl-proline hydroxylation to 4-hydroxy-L-proline
GO:0030199 collagen fibril organization
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0016020 membrane
GO:0016222 procollagen-proline 4-dioxygenase complex
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AK222960 - Homo sapiens mRNA for procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I variant, clone: HRT00758.
BC034998 - Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I, mRNA (cDNA clone MGC:33137 IMAGE:4797051), complete cds.
LF384636 - JP 2014500723-A/192139: Polycomb-Associated Non-Coding RNAs.
MA620213 - JP 2018138019-A/192139: Polycomb-Associated Non-Coding RNAs.
M24486 - Human prolyl 4-hydroxylase alpha subunit mRNA, complete cds, clone PA-11.
M24487 - Human prolyl 4-hydroxylase alpha subunit mRNA, complete cds, clone PA-15.
LF322505 - JP 2014500723-A/130008: Polycomb-Associated Non-Coding RNAs.
MA558082 - JP 2018138019-A/130008: Polycomb-Associated Non-Coding RNAs.
LF322504 - JP 2014500723-A/130007: Polycomb-Associated Non-Coding RNAs.
MA558081 - JP 2018138019-A/130007: Polycomb-Associated Non-Coding RNAs.
JD441938 - Sequence 422962 from Patent EP1572962.
JD268213 - Sequence 249237 from Patent EP1572962.
JD260553 - Sequence 241577 from Patent EP1572962.
JD410885 - Sequence 391909 from Patent EP1572962.
BX648829 - Homo sapiens mRNA; cDNA DKFZp686N21109 (from clone DKFZp686N21109).
LF322503 - JP 2014500723-A/130006: Polycomb-Associated Non-Coding RNAs.
MA558080 - JP 2018138019-A/130006: Polycomb-Associated Non-Coding RNAs.
JD259995 - Sequence 241019 from Patent EP1572962.
LF322502 - JP 2014500723-A/130005: Polycomb-Associated Non-Coding RNAs.
MA558079 - JP 2018138019-A/130005: Polycomb-Associated Non-Coding RNAs.
JD145542 - Sequence 126566 from Patent EP1572962.
LF322501 - JP 2014500723-A/130004: Polycomb-Associated Non-Coding RNAs.
MA558078 - JP 2018138019-A/130004: Polycomb-Associated Non-Coding RNAs.
JD307264 - Sequence 288288 from Patent EP1572962.
LF322500 - JP 2014500723-A/130003: Polycomb-Associated Non-Coding RNAs.
MA558077 - JP 2018138019-A/130003: Polycomb-Associated Non-Coding RNAs.
LF322499 - JP 2014500723-A/130002: Polycomb-Associated Non-Coding RNAs.
MA558076 - JP 2018138019-A/130002: Polycomb-Associated Non-Coding RNAs.
LF322498 - JP 2014500723-A/130001: Polycomb-Associated Non-Coding RNAs.
MA558075 - JP 2018138019-A/130001: Polycomb-Associated Non-Coding RNAs.
AK312593 - Homo sapiens cDNA, FLJ92969.
DQ891669 - Synthetic construct clone IMAGE:100004299; FLH179137.01X; RZPDo839D03130D procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I (P4HA1) gene, encodes complete protein.
DQ894855 - Synthetic construct Homo sapiens clone IMAGE:100009315; FLH179133.01L; RZPDo839D03129D procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I (P4HA1) gene, encodes complete protein.
AB529124 - Synthetic construct DNA, clone: pF1KB4957, Homo sapiens P4HA1 gene for prolyl 4-hydroxylase, alpha polypeptide I, without stop codon, in Flexi system.
LF322497 - JP 2014500723-A/130000: Polycomb-Associated Non-Coding RNAs.
MA558074 - JP 2018138019-A/130000: Polycomb-Associated Non-Coding RNAs.
AK123653 - Homo sapiens cDNA FLJ41659 fis, clone FEBRA2026769.
LF322496 - JP 2014500723-A/129999: Polycomb-Associated Non-Coding RNAs.
MA558073 - JP 2018138019-A/129999: Polycomb-Associated Non-Coding RNAs.
LF322495 - JP 2014500723-A/129998: Polycomb-Associated Non-Coding RNAs.
MA558072 - JP 2018138019-A/129998: Polycomb-Associated Non-Coding RNAs.
LF322490 - JP 2014500723-A/129993: Polycomb-Associated Non-Coding RNAs.
MA558067 - JP 2018138019-A/129993: Polycomb-Associated Non-Coding RNAs.
LF322488 - JP 2014500723-A/129991: Polycomb-Associated Non-Coding RNAs.
MA558065 - JP 2018138019-A/129991: Polycomb-Associated Non-Coding RNAs.
LF322487 - JP 2014500723-A/129990: Polycomb-Associated Non-Coding RNAs.
MA558064 - JP 2018138019-A/129990: Polycomb-Associated Non-Coding RNAs.
LF322486 - JP 2014500723-A/129989: Polycomb-Associated Non-Coding RNAs.
MA558063 - JP 2018138019-A/129989: Polycomb-Associated Non-Coding RNAs.
LF322485 - JP 2014500723-A/129988: Polycomb-Associated Non-Coding RNAs.
MA558062 - JP 2018138019-A/129988: Polycomb-Associated Non-Coding RNAs.
LF322482 - JP 2014500723-A/129985: Polycomb-Associated Non-Coding RNAs.
MA558059 - JP 2018138019-A/129985: Polycomb-Associated Non-Coding RNAs.
LF322478 - JP 2014500723-A/129981: Polycomb-Associated Non-Coding RNAs.
MA558055 - JP 2018138019-A/129981: Polycomb-Associated Non-Coding RNAs.
LF322477 - JP 2014500723-A/129980: Polycomb-Associated Non-Coding RNAs.
MA558054 - JP 2018138019-A/129980: Polycomb-Associated Non-Coding RNAs.
LF322476 - JP 2014500723-A/129979: Polycomb-Associated Non-Coding RNAs.
MA558053 - JP 2018138019-A/129979: Polycomb-Associated Non-Coding RNAs.
LF322474 - JP 2014500723-A/129977: Polycomb-Associated Non-Coding RNAs.
MA558051 - JP 2018138019-A/129977: Polycomb-Associated Non-Coding RNAs.
LF322473 - JP 2014500723-A/129976: Polycomb-Associated Non-Coding RNAs.
MA558050 - JP 2018138019-A/129976: Polycomb-Associated Non-Coding RNAs.
JD477895 - Sequence 458919 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00330 - Arginine and proline metabolism
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein P13674 (Reactome details) participates in the following event(s):

R-HSA-1650808 Prolyl 4-hydroxylase converts collagen prolines to 4-hydroxyprolines
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-1474290 Collagen formation
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: BC034998, ENST00000307116.1, ENST00000307116.2, ENST00000307116.3, ENST00000307116.4, ENST00000307116.5, P13674, P4HA, P4HA1_HUMAN, Q15082, Q15083, Q5VSQ5, uc001jtg.1, uc001jtg.2, uc001jtg.3, uc001jtg.4
UCSC ID: ENST00000307116.6
RefSeq Accession: NM_001017962
Protein: P13674 (aka P4HA1_HUMAN or P4H1_HUMAN)
CCDS: CCDS7320.1, CCDS41537.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.