• Gene id: 966

Gene Summary

• Gene Symbol: CD59   Gene   UCSC   Ensembl
• Aliases: 16.3A5, 1F5, EJ16, EJ30, EL32, G344, HRF-20, HRF20, MAC-IP, MACIF, MEM43, MIC11, MIN1, MIN2, MIN3, MIRL, MSK21, p18-20
• Gene name: CD59 molecule (CD59 blood group)
• Alternate names: CD59 glycoprotein, 1F5 antigen, 20 kDa homologous restriction factor, CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344), CD59 blood group antigen, CD59 molecule, complement regulatory protein, Ly-6-like protein, ,
• Gene location: 11p13 (33736478: 33703009)     Exons: 8     NC_000011.10
• Gene summary(Entrez): This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8
• OMIM: 107271

Protein Summary

• Protein general information: P13987  
  • Name: CD59 glycoprotein (1F5 antigen) (20 kDa homologous restriction factor) (HRF 20) (HRF20) (MAC inhibitory protein) (MAC IP) (MEM43 antigen) (Membrane attack complex inhibition factor) (MACIF) (Membrane inhibitor of reactive lysis) (MIRL) (Protectin) (CD ant
  • Length: 128  
  • Mass: 14177
• Sequence:

  MGIQGGSVLFGLLLVLAVFCHSGHSLQCYNCPNPTADCKTAVNCSSDFDACLITKAGLQVYNKCWKFEHCNFNDV
  TTRLRENELTYYCCKKDLCNFNEQLENGGTSLSEKTVLLLVTPFLAAAWSLHP

• Structural information:
  • Protein Domains: (26..10-)
    (/note="UPAR/Ly6"-)
  • Interpro: IPR018363  IPR027101  IPR016054  
  • Prosite: PS00983
  • PDB: 1CDQ 1CDR 1CDS 1ERG 1ERH 2J8B 2OFS 2UWR 2UX2 4BIK 5IMT 5IMY
  • PDBsum: 1CDQ 1CDR 1CDS 1ERG 1ERH 2J8B 2OFS 2UWR 2UX2 4BIK 5IMT 5IMY
  • STRING: ENSP00000379191
• Other Databases: GeneCards:  CD59  Malacards:  CD59

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0001848	complement binding	IBA	molecular function
GO:0001971	negative regulation of activation of membrane attack complex	IBA	biological process
GO:0030449	regulation of complement activation	IBA	biological process
GO:0001971	negative regulation of activation of membrane attack complex	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	NAS	cellular component
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0030449	regulation of complement activation	IDA	biological process
GO:1903659	regulation of complement-dependent cytotoxicity	IDA	biological process
GO:0031362	anchored component of external side of plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0070821	tertiary granule membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0030449	regulation of complement activation	TAS	biological process
GO:0048208	COPII vesicle coating	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:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0031982	vesicle	HDA	cellular component
GO:0005925	focal adhesion	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04640	Hematopoietic cell lineage
hsa04610	Complement and coagulation cascades

Diseases

Associated diseases	References
Complement regulatory protein defects	KEGG:H00106
Complement regulatory protein defects	KEGG:H00106
colorectal carcinoma	PMID:12909127
Endometrial cancer	PMID:10637067
Ovarian cancer	PMID:15726105
Ovarian cancer	PMID:19254481
Breast carcinoma	PMID:12898600
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

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)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
16272280	Role in spermatogenesis				Male infertility