• Gene id: 10609

Gene Summary

• Gene Symbol: P3H4   Gene   UCSC   Ensembl
• Aliases: LEPREL4, NO55, NOL55, SC65
• Gene name: prolyl 3-hydroxylase family member 4 (inactive)
• Alternate names: endoplasmic reticulum protein SC65, leprecan-like 4, leprecan-like protein 4, nucleolar autoantigen (55kD), nucleolar autoantigen No55, nucleolar autoantigen, 55kDa, prolyl 3-hydroxylase family member 4 (non-enzymatic), synaptonemal complex 65, synaptonemal compl,
• Gene location: 17q21.2 (41812709: 41801951)     Exons: 9     NC_000017.11
• Gene summary(Entrez): This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, w
• OMIM: 602303

Protein Summary

• Protein general information: Q92791  
  • Name: Endoplasmic reticulum protein SC65 (Leprecan like protein 4) (Nucleolar autoantigen No55) (Prolyl 3 hydroxylase family member 4) (Synaptonemal complex protein SC65)
  • Length: 437  
  • Mass: 50381
  • Tissue specificity: Detected in fibroblasts (at protein level) (PubMed
• Sequence:

  MARVAWGLLWLLLGSAGAQYEKYSFRGFPPEDLMPLAAAYGHALEQYEGESWRESARYLEAALRLHRLLRDSEAF
  CHANCSGPAPAAKPDPDGGRADEWACELRLFGRVLERAACLRRCKRTLPAFQVPYPPRQLLRDFQSRLPYQYLHY
  ALFKANRLEKAVAAAYTFLQRNPKHELTAKYLNYYQGMLDVADESLTDLEAQPYEAVFLRAVKLYNSGDFRSSTE
  DMERALSEYLAVFARCLAGCEGAHEQVDFKDFYPAIADLFAESLQCKVDCEANLTPNVGGYFVDKFVATMYHYLQ
  FAYYKLNDVRQAARSAASYMLFDPKDSVMQQNLVYYRFHRARWGLEEEDFQPREEAMLYHNQTAELRELLEFTHM
  YLQSDDEMELEETEPPLEPEDALSDAEFEGEGDYEEGMYADWWQEPDAKGDEAEAEPEPELA

• Structural information:
  • Interpro: IPR033213  
  • STRING: ENSP00000347649
• Other Databases: GeneCards:  P3H4  Malacards:  P3H4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017185	peptidyl-lysine hydroxylation	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0030199	collagen fibril organization	IBA	biological process
GO:0005518	collagen binding	IBA	contributes to
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0032964	collagen biosynthetic process	ISS	biological process
GO:0017185	peptidyl-lysine hydroxylation	ISS	biological process
GO:0046849	bone remodeling	ISS	biological process
GO:0030199	collagen fibril organization	ISS	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0007130	synaptonemal complex assembly	TAS	biological process
GO:0000794	condensed nuclear chromosome	TAS	cellular component
GO:0000795	synaptonemal complex	TAS	cellular component
GO:0005730	nucleolus	TAS	cellular component
GO:1902494	catalytic complex	IEA	cellular component
GO:0046849	bone remodeling	IEA	biological process
GO:0030199	collagen fibril organization	IEA	biological process
GO:0032964	collagen biosynthetic process	IEA	biological process
GO:0017185	peptidyl-lysine hydroxylation	IEA	biological process
GO:0000795	synaptonemal complex	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881