• Gene id: 10216

Gene Summary

• Gene Symbol: PRG4   Gene   UCSC   Ensembl
• Aliases: CACP, HAPO, JCAP, MSF, SZP
• Gene name: proteoglycan 4
• Alternate names: proteoglycan 4, articular superficial zone protein, hemangiopoietin, lubricin, megakaryocyte stimulating factor, superficial zone proteoglycan,
• Gene location: 1q31.1 (186296272: 186314566)     Exons: 13     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is a large proteoglycan that is synthesized by chondrocytes located at the surface of articular cartilage and by some synovial lining cells. This protein contains both chondroitin sulfate and keratan sulfate glycosaminogly
• OMIM: 176945

Protein Summary

• Protein general information: Q92954  
  • Name: Proteoglycan 4 (Lubricin) (Megakaryocyte stimulating factor) (Superficial zone proteoglycan) [Cleaved into: Proteoglycan 4 C terminal part]
  • Length: 1404  
  • Mass: 151061
  • Tissue specificity: Highly expressed in synovial tissue, cartilage and liver and weakly in heart and lung. Isoform B is expressed in kidney, lung, liver, heart and brain. Isoform C and isoform D are widely expressed. {ECO
• Sequence:

  MAWKTLPIYLLLLLSVFVIQQVSSQDLSSCAGRCGEGYSRDATCNCDYNCQHYMECCPDFKRVCTAELSCKGRCF
  ESFERGRECDCDAQCKKYDKCCPDYESFCAEVHNPTSPPSSKKAPPPSGASQTIKSTTKRSPKPPNKKKTKKVIE
  SEEITEEHSVSENQESSSSSSSSSSSSTIRKIKSSKNSAANRELQKKLKVKDNKKNRTKKKPTPKPPVVDEAGSG
  LDNGDFKVTTPDTSTTQHNKVSTSPKITTAKPINPRPSLPPNSDTSKETSLTVNKETTVETKETTTTNKQTSTDG
  KEKTTSAKETQSIEKTSAKDLAPTSKVLAKPTPKAETTTKGPALTTPKEPTPTTPKEPASTTPKEPTPTTIKSAP
  TTPKEPAPTTTKSAPTTPKEPAPTTTKEPAPTTPKEPAPTTTKEPAPTTTKSAPTTPKEPAPTTPKKPAPTTPKE
  PAPTTPKEPTPTTPKEPAPTTKEPAPTTPKEPAPTAPKKPAPTTPKEPAPTTPKEPAPTTTKEPSPTTPKEPAPT
  TTKSAPTTTKEPAPTTTKSAPTTPKEPSPTTTKEPAPTTPKEPAPTTPKKPAPTTPKEPAPTTPKEPAPTTTKKP
  APTTPKEPAPTTPKETAPTTPKKLTPTTPEKLAPTTPEKPAPTTPEELAPTTPEEPTPTTPEEPAPTTPKAAAPN
  TPKEPAPTTPKEPAPTTPKEPAPTTPKETAPTTPKGTAPTTLKEPAPTTPKKPAPKELAPTTTKEPTSTTSDKPA
  PTTPKGTAPTTPKEPAPTTPKEPAPTTPKGTAPTTLKEPAPTTPKKPAPKELAPTTTKGPTSTTSDKPAPTTPKE
  TAPTTPKEPAPTTPKKPAPTTPETPPPTTSEVSTPTTTKEPTTIHKSPDESTPELSAEPTPKALENSPKEPGVPT
  TKTPAATKPEMTTTAKDKTTERDLRTTPETTTAAPKMTKETATTTEKTTESKITATTTQVTSTTTQDTTPFKITT
  LKTTTLAPKVTTTKKTITTTEIMNKPEETAKPKDRATNSKATTPKPQKPTKAPKKPTSTKKPKTMPRVRKPKTTP
  TPRKMTSTMPELNPTSRIAEAMLQTTTRPNQTPNSKLVEVNPKSEDAGGAEGETPHMLLRPHVFMPEVTPDMDYL
  PRVPNQGIIINPMLSDETNICNGKPVDGLTTLRNGTLVAFRGHYFWMLSPFSPPSPARRITEVWGIPSPIDTVFT
  RCNCEGKTFFFKDSQYWRFTNDIKDAGYPKPIFKGFGGLTGQIVAALSTAKYKNWPESVYFFKRGGSIQQYIYKQ
  EPVQKCPGRRPALNYPVYGETTQVRRRRFERAIGPSQTHTIRIQYSPARLAYQDKGVLHNEVKVSILWRGLPNVV
  TSAISLPNIRKPDGYDYYAFSKDQYYNIDVPSRTARAITTRSGQTLSKVWYNCP

• Structural information:
  • Protein Domains: (26..6-)
    (/note="SMB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00350-)
    (66..10-)
    (/note="SMB-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00350"-)
  • Interpro: IPR000585  IPR036375  IPR018487  IPR018486  IPR036024   IPR020436  IPR001212  
  • Prosite: PS00024 PS51642 PS00524 PS50958
  • CDD: cd00094
  • STRING: ENSP00000399679
• Other Databases: GeneCards:  PRG4  Malacards:  PRG4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030247	polysaccharide binding	IEA	molecular function
GO:0005044	scavenger receptor activity	IEA	molecular function
GO:0006955	immune response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0030021	extracellular matrix structural constituent conferring compression resistance	RCA	molecular function
GO:0030021	extracellular matrix structural constituent conferring compression resistance	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process

Diseases

Associated diseases	References
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	KEGG:H00526
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	KEGG:H00526
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R