• Gene id: 5033

Gene Summary

• Gene Symbol: P4HA1   Gene   UCSC   Ensembl
• Aliases: P4HA
• Gene name: prolyl 4-hydroxylase subunit alpha 1
• Alternate names: prolyl 4-hydroxylase subunit alpha-1, C-P4Halpha(I), collagen prolyl 4-hydroxylase alpha(I), procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I, procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-1, proly,
• Gene location: 10q22.1 (73096973: 73007216)     Exons: 10     NC_000010.11
• Gene summary(Entrez): 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 o
• OMIM: 176710

Protein Summary

• Protein general information: P13674  
  • Name: Prolyl 4 hydroxylase subunit alpha 1 (4 PH alpha 1) (EC 1.14.11.2) (Procollagen proline,2 oxoglutarate 4 dioxygenase subunit alpha 1)
  • Length: 534  
  • Mass: 61049
• Sequence:

  MIWYILIIGILLPQSLAHPGFFTSIGQMTDLIHTEKDLVTSLKDYIKAEEDKLEQIKKWAEKLDRLTSTATKDPE
  GFVGHPVNAFKLMKRLNTEWSELENLVLKDMSDGFISNLTIQRQYFPNDEDQVGAAKALLRLQDTYNLDTDTISK
  GNLPGVKHKSFLTAEDCFELGKVAYTEADYYHTELWMEQALRQLDEGEISTIDKVSVLDYLSYAVYQQGDLDKAL
  LLTKKLLELDPEHQRANGNLKYFEYIMAKEKDVNKSASDDQSDQKTTPKKKGVAVDYLPERQKYEMLCRGEGIKM
  TPRRQKKLFCRYHDGNRNPKFILAPAKQEDEWDKPRIIRFHDIISDAEIEIVKDLAKPRLRRATISNPITGDLET
  VHYRISKSAWLSGYENPVVSRINMRIQDLTGLDVSTAEELQVANYGVGGQYEPHFDFARKDEPDAFKELGTGNRI
  ATWLFYMSDVSAGGATVFPEVGASVWPKKGTAVFWYNLFASGEGDYSTRHAACPVLVGNKWVSNKWLHERGQEFR
  RPCTLSELE

• Structural information:
  • Protein Domains: (411..51-)
    (/note="Fe2OG-dioxygenase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00805"-)
  • Interpro: IPR005123  IPR006620  IPR013547  IPR013026  IPR011990   IPR019734  
  • Prosite: PS51471 PS50005 PS50293
  • PDB: 1TJC 2V5F 2YQ8 4BT8 4BT9 4BTA 4BTB
  • PDBsum: 1TJC 2V5F 2YQ8 4BT8 4BT9 4BTA 4BTB
  • DIP: 38180
  • STRING: ENSP00000263556
• Other Databases: GeneCards:  P4HA1  Malacards:  P4HA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0018401	peptidyl-proline hydroxylation to 4-hydroxy-L-proline	IBA	biological process
GO:0004656	procollagen-proline 4-dioxygenase activity	IBA	contributes to
GO:0005506	iron ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IEA	molecular function
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004656	procollagen-proline 4-dioxygenase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0004656	procollagen-proline 4-dioxygenase activity	TAS	molecular function
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0004656	procollagen-proline 4-dioxygenase activity	IEA	molecular function
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0018401	peptidyl-proline hydroxylation to 4-hydroxy-L-proline	IEA	biological process
GO:0030199	collagen fibril organization	IEA	biological process
GO:0016222	procollagen-proline 4-dioxygenase complex	IEA	cellular component
GO:0004656	procollagen-proline 4-dioxygenase activity	IEA	molecular function
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00330	Arginine and proline metabolism

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray