• Gene id: 5034

Gene Summary

• Gene Symbol: P4HB   Gene   UCSC   Ensembl
• Aliases: CLCRP1, DSI, ERBA2L, GIT, P4Hbeta, PDI, PDIA1, PHDB, PO4DB, PO4HB, PROHB
• Gene name: prolyl 4-hydroxylase subunit beta
• Alternate names: protein disulfide-isomerase, cellular thyroid hormone-binding protein, collagen prolyl 4-hydroxylase beta, glutathione-insulin transhydrogenase, p55, procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide, prolyl 4-hydroxyla,
• Gene location: 17q25.3 (54313165: 54307069)     Exons: 7     NC_000019.10
• Gene summary(Entrez): This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved
• OMIM: 176790

Protein Summary

• Protein general information: P07237  
  • Name: Protein disulfide isomerase (PDI) (EC 5.3.4.1) (Cellular thyroid hormone binding protein) (Prolyl 4 hydroxylase subunit beta) (p55)
  • Length: 508  
  • Mass: 57116
• Sequence:

  MLRRALLCLAVAALVRADAPEEEDHVLVLRKSNFAEALAAHKYLLVEFYAPWCGHCKALAPEYAKAAGKLKAEGS
  EIRLAKVDATEESDLAQQYGVRGYPTIKFFRNGDTASPKEYTAGREADDIVNWLKKRTGPAATTLPDGAAAESLV
  ESSEVAVIGFFKDVESDSAKQFLQAAEAIDDIPFGITSNSDVFSKYQLDKDGVVLFKKFDEGRNNFEGEVTKENL
  LDFIKHNQLPLVIEFTEQTAPKIFGGEIKTHILLFLPKSVSDYDGKLSNFKTAAESFKGKILFIFIDSDHTDNQR
  ILEFFGLKKEECPAVRLITLEEEMTKYKPESEELTAERITEFCHRFLEGKIKPHLMSQELPEDWDKQPVKVLVGK
  NFEDVAFDEKKNVFVEFYAPWCGHCKQLAPIWDKLGETYKDHENIVIAKMDSTANEVEAVKVHSFPTLKFFPASA
  DRTVIDYNGERTLDGFKKFLESGGQDGAGDDDDLEDLEEAEEPDMEEDDDQKAVKDEL

• Structural information:
  • Protein Domains: (18..13-)
    (/note="Thioredoxin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00691-)
    (349..47-)
    (/note="Thioredoxin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00691"-)
  • Interpro: IPR005788  IPR005792  IPR036249  IPR017937  IPR013766  
  • Prosite: PS00014 PS00194 PS51352
  • PDB: 1BJX 1MEK 1X5C 2BJX 2K18 3BJ5 3UEM 4EKZ 4EL1 4JU5 6I7S
  • PDBsum: 1BJX 1MEK 1X5C 2BJX 2K18 3BJ5 3UEM 4EKZ 4EL1 4JU5 6I7S
  • DIP: 32979
  • STRING: ENSP00000327801
• Other Databases: GeneCards:  P4HB  Malacards:  P4HB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005856	cytoskeleton	IDA	cellular component
GO:0030027	lamellipodium	IDA	cellular component
GO:0003779	actin binding	IPI	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:1900026	positive regulation of substrate adhesion-dependent cell spreading	IMP	biological process
GO:0045785	positive regulation of cell adhesion	IMP	biological process
GO:0003756	protein disulfide isomerase activity	IDA	molecular function
GO:0006457	protein folding	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0034976	response to endoplasmic reticulum stress	IBA	biological process
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0003756	protein disulfide isomerase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003756	protein disulfide isomerase activity	IEA	molecular function
GO:0045454	cell redox homeostasis	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0003756	protein disulfide isomerase activity	TAS	molecular function
GO:0004656	procollagen-proline 4-dioxygenase activity	TAS	molecular function
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0003756	protein disulfide isomerase activity	IEA	molecular function
GO:0018401	peptidyl-proline hydroxylation to 4-hydroxy-L-proline	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016222	procollagen-proline 4-dioxygenase complex	IDA	cellular component
GO:0004656	procollagen-proline 4-dioxygenase activity	IDA	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0003756	protein disulfide isomerase activity	EXP	molecular function
GO:0034378	chylomicron assembly	TAS	biological process
GO:0034379	very-low-density lipoprotein particle assembly	TAS	biological process
GO:0035722	interleukin-12-mediated signaling pathway	TAS	biological process
GO:0038155	interleukin-23-mediated signaling pathway	TAS	biological process
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098761	cellular response to interleukin-7	IEA	biological process
GO:0034663	endoplasmic reticulum chaperone complex	IEA	cellular component
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0005178	integrin binding	IEA	molecular function
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0019899	enzyme binding	IEA	molecular function
GO:0003756	protein disulfide isomerase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0071456	cellular response to hypoxia	IMP	biological process
GO:0034976	response to endoplasmic reticulum stress	IMP	biological process
GO:1902175	regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IMP	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IDA	cellular component
GO:0015037	peptide disulfide oxidoreductase activity	IDA	molecular function
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005925	focal adhesion	HDA	cellular component
GO:0005178	integrin binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0046598	positive regulation of viral entry into host cell	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Cole-Carpenter syndrome	KEGG:H01572
Cole-Carpenter syndrome	KEGG:H01572
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881