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CD59 (CD59 molecule, complement regulatory protein)

Written2012-12Rossen M Donev, Martin V Kolev
Institute of Life Science, College of Medicine, Swansea University, Swansea, UK (RMD); MRC Centre for Transplantation, King's College London, Guy's Hospital, London, UK (MVK)

(Note : for Links provided by Atlas : click)

Identity

Alias_namesMIC11
MIN1
MSK21
MIN2
MIN3
CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)
CD59 antigen, complement regulatory protein
CD59 molecule, complement regulatory protein
Alias_symbol (synonym)16.3A5
EJ16
EJ30
EL32
G344
p18-20
Other alias1F5
HRF-20
HRF20
MAC-IP
MACIF
MEM43
MIRL
HGNC (Hugo) CD59
LocusID (NCBI) 966
Atlas_Id 985
Location 11p13  [Link to chromosome band 11p13]
Location_base_pair Starts at 33703010 and ends at 33736479 bp from pter ( according to hg19-Feb_2009)  [Mapping CD59.png]
Local_order FBOX3, CD59, C11orf91.
 
  Red line marks the position of the CD59 gene in chromosome 11, p13.
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CD59 (11p13) / BLOC1S5 (6p24.3)CD59 (11p13) / CD59 (11p13)CD59 (11p13) / COL7A1 (3p21.31)
CD59 (11p13) / FBXO3 (11p13)CD59 (11p13) / NCBP1 (9q22.33)CD59 (11p13) / RBPJ (4p15.2)
H2AFZ (4q23) / CD59 (11p13)MALAT1 (11q13.1) / CD59 (11p13)NOTCH2 (1p12) / CD59 (11p13)
SERPINA3 (14q32.13) / CD59 (11p13)
Note CD59 gene encodes a ubiquitously expressed membrane-bound glycoprotein which inhibits complement system. More specifically, CD59 binds complement C8 and/or C9 during the assembly of the membrane attack complex, thus protecting self-cells from damage caused by the activation of the terminal pathway of complement cascade (Bubeck et al., 2011; Walport, 2001).

DNA/RNA

 
  CD59 gene consists of 7 exons and 6 introns spanning 1 to 33470bp of DNA (NCBI Reference Sequence: NG_008057.1) from 11p13 and includes a 5'-/3'- non-coding regions. The position of exons is: 1..98 (exon 1), 2870..2985 (exon 2), 5012..5056 (exon 3), 13528..13563 (exon 4), 13753..13844 (exon 5a), 13753..13909 (exon 5b), 13753..14101 (exon 5c), 14017..14101 (exon 5d), 19009..19110 (exon 6), and 26137..33470 (exon 7). Highlighted in red is the protein coding sequence from exons 5c/5d, 6 and 7 (14035..26354).
Description NCBI Reference Sequence: NG_008057.1.
Transcription - Total range: NG_008057.1
- exon 1: (1..98); total length: 98; strand: plus
- exon 2: (2870..2985); total length: 116; strand: plus
- exon 3: (5012..5056); total length: 45; strand: plus
- exon 4: (13528..13563); total length: 36; strand: plus
- exon 5a: (13753..13844); total length: 92; strand: plus
- exon 5b :(13753..13909); total length: 157; strand: plus
- exon 5c: (13753..14101); total length: 349; strand: plus
- exon 5d: (14017..14101); total length: 85; strand: plus
- exon 6: (19009..19110); total length: 102; strand: plus
- exon 7: (26137..33470); total length: 7,334; strand: plus.
Transcription results in 22 different mRNAs (20 alternatively spliced variants and 2 unspliced forms). Despite the very high number of different CD59 transcripts, most of them vary at their 5' and/or 3' ends and encode a unique CD59 protein. However, different splicing variants have alternative promoters and stabilising sequences which is likely to affect the expression level of the protein.

Protein

 
  Sequence of CD59 protein. CD59 contains 10 cystein residues involved in 5 disulphide bonds creating 5 loop structures. First three helical loops at the N-terminus form the hydrophobic core of CD59. Detailed information on CD59 protein structure can be obtained in works published by Bubeck et al. (Bubeck et al., 2011) and Huang et al. (Huang et al., 2007).
Description CD59 is a 128aa-long protein. No polymorphisms have been described in the protein coding sequence of the CD59 gene. All transcription variants of CD59 result in the synthesis of a single CD59 protein with molecular mass between 18 and 22 kDa, depending on the level of glycosylation. CD59 has sites for both N- and O-glycosylation.
Expression CD59 is expressed in all organs and in almost all cell types. It is essential to protect cells from self-destruction by complement-mediated lysis. The highest expression in humans has been detected in cardiomyocytes and smooth muscles (Su et al., 2004). Some nucleated blood cells (CD14 monocytes, T cells) either lack CD59 expression or express it very low which makes them highly susceptible to complement lysis.
Localisation CD59 is expressed on the surface of cells. It is attached to the cellular membrane via a glycosylphosphatidylinositol tail (GPI-anchored molecule). In urine, CD59 can be found as soluble protein.
Function The major and well-studied role of CD59 protein is to protect cells from self-destruction by our complement system. CD59 is the only membrane-bound inhibitor of the terminal pathway of complement cascade. However, in more recent years, some other functions of CD59 were described. CD59 was found to attenuate angiogenesis by preventing the complement-mediated lysis of newly grown blood vessels (Ekdahl et al., 2006). In addition, it was found that via CD59, the LPS signal is transduced into the nucleus via NF-kappaB activation inducing cytokine generation (Yamamoto et al., 2003).
Homology CD59 protein does not show significant homology with other proteins. However, there is a high cross-primates homology for CD59. Human CD59 has 84% homology with CD59 in Macaca fascicularis and 91% homology in Pongo abelii (BLAST search). Homology between human CD59 protein and CD59 in rodents, however, is less than 50% (BLAST analysis).

Mutations

Somatic No polymorphisms have been described for CD59 gene which affect the protein sequence. However, analysis of the sequence of the human CD59 gene revealed the presence of a (GT)19 dinucleotide repeat ~800bp upstream from exon 1 (Nöthen and Dewald, 1995). This polymorphism might affect expression and/or stability of CD59 transcripts, however, there is no experimental information on this matter.
A mutation in another gene, PIGA gene, however, indirectly results in lack of CD59 on red blood cells (RBCs). This condition is called paroxysmal nocturnal haemoglobinuria (PNH) and is a clonal disorder of RBCs. As a result of defective PIGA function, affected RBCs lack all GPI-linked membrane proteins, including CD59. The lack of CD59 renders PNH-RBCs susceptible to autologous complement lysis (Botto et al., 2009).

Implicated in

Note
  
Entity Paroxysmal nocturnal hemoglobinuria (PNH)
Note Decrease or absence of glycosylphosphatidylinositol-anchored molecules from the surface of the affected cells, such as CD59 (and CD55), resulting in chronic intravascular hemolysis, cytopenia and increased tendency to thrombosis, venous thrombosis, deficient hematopoiesis and, rarely, leukemic conversion.
Disease PNH involves the defective synthesis of a glycosylphosphatidylinositol (GPI) anchor that is used by certain surface proteins for tethering to the cell membrane, such as CD59 (Meri and Jarva, 1998).
Somatic mutations in the X-linked gene PIGA (GPI complementation group A) which encodes a protein required in the biosynthesis of GPI molecules, have been strongly implicated in the pathogenesis of PNH (Rosti, 2000).
Prognosis Poor.
Oncogenesis Possible association between paroxysmal nocturnal hemoglobinuria phenotype and lymphoproliferative syndromes (Meletis et al., 2001).
  
  
Entity Alzheimer's disease (AD)
Note It was demonstrated at both protein and mRNA levels that CD59 expression in frontal cortex and hippocampus in AD brains was significantly decreased when compared with normal age matched non-demented individuals, supporting the hypothesis that AD brains are particularly vulnerable to complement-mediated neuronal death (Yang et al., 2000).
Disease AD is a neurodegenerative disease that causes changes in brain function. AD usually affects people over the age of 65 years, with a progressive decline in memory, thinking, language and learning capacity. Age is the strongest predictor for the development and progression of AD (Tanna, 2004).
Prognosis AD is incurable. It leads to death within an average of eight years after diagnosis, the last three of which are typically spent in an institution.
Cytogenetics The molecular mechanisms and hypotheses of AD can be incredibly complex. One of the key events leading to AD appears to be the formation of a peptide (protein) known as amyloid beta (beta amyloid, Aβ), which clusters into amyloid plaques (senile plaques) on the blood vessels and on the outside surface of neurons of the brain. This plaques have been shown to activate the complement system (Kolev et al., 2009).
  
  
Entity Breast cancer
Disease Human breast cancer cells are protected from complement-dependent lysis (CDC) by overexpression of CD59 (Yu et al., 1999). It has been shown in numerous studies that inhibition/neutralization of CD59 on breast tumour cells increases tumour killing by complement system both in vivo and in vitro.
Prognosis A recent comparative proteomics study provided novel insights into key proteins associated with the metastatic potential of breast cancer cells and identified CD59 as a marker for breast cancer aggressiveness (Terp et al., 2012).
Oncogenesis Overexpression of CD59 on the surface of tumour cells confers resistance to CDC which has been suggested to result in tumour growth (Chen et al., 2000; Donev et al., 2006).
  
  
Entity Ovarian cancer
Disease CD59 is strongly expressed in the ovarian tumor tissues and their associated cell lines cells in all 28 benign and malignant tumors examined (Bjørge et al., 1997). Neutralization of CD59 with an anti-CD59 monoclonal antibody or inhibition of cd59 expression by siRNA significantly enhances CDC of the ovarian cell lines (Kolev et al., 2011).
Prognosis Significant reduced levels of CD59 were detected in the urine of patients with ovarian carcinoma compared to the control subjects (Abdullah-Soheimi et al., 2010). Thus, CD59 can be used as a biomarker in the development of noninvasive assays for diagnosis and screening for ovarian carcinoma.
Oncogenesis It has been demonstrated that overexpression of CD59 on cancer cell surface promotes tumour growth in vitro and in vivo by protecting them from complement lysis (Chen et al., 2000; Donev et al., 2006).
  
  
Entity Various cancers
Note Complement is one of the main mediators of antibody-based cancer therapy via the CDC effect. Tumour cells overexpress CD59 which plays a critical role in resistance to CDC and monoclonal antibody-therapy for treatment of cancer (Juhl et al., 1997; Yan et al., 2008).
Disease CD59 is overexpress on the surface of different tumour types and their associated cell lines - colorectal cancer (Thorsteinsson et al., 1998), B-cell leukemias (Treon et al., 2001), neuroblastoma (Donev et al., 2008), prostate cancer (Jarvis et al., 1997), malignant melanoma (Weichenthal et al., 1999), lung carcinoma (Varsano et al., 1998), etc.
Prognosis In general, overexpression of CD59 on tumour surface is associated with poor prognosis.
Oncogenesis It has been demonstrated that overexpression of CD59 on cell surface promotes tumour growth in vitro and in vivo by protecting them from complement lysis (Chen et al., 2000; Donev et al., 2006).
  
  
Entity Diabetes
Note Glycation was shown to inhibit CD59 function. In presence of glycation on CD59 it loses its MAC-inhibitory function and results in vascular proliferavative complications like diabetes (Davies et al., 2005). Loss of functional CD59 in hyperglycaemics contributes to their susceptibility to lysis by complement. Thus, it was suggested that glycation-induced inactivation of CD59 is a factor contributing to anaemia in type I diabetes. It is hypothesized that glycation near residue K41 and W40, two highly conserved amino acids essential for the CD59 function, inhibits CD59 function (Davies et al., 2005).
Disease Diabetes is a disease due to an increased level in glucose, which results in glycation and impairment of protein function. Glycation is when a sugar molecule binds a protein or a lipid molecule without the control of an enzyme.
  
  
Entity Age-related macular degeneration (AMD)
Note Immunohistochemical studies have localized activated complement components, including the membrane attack complex (MAC) in retinal pigment epithelium (RPE) and drusen in the eyes of patients with AMD (Johnson et al., 2000). CD59 protects autologous cell killing by preventing the formation of lytic MAC on the cell membrane (Meri et al., 1990). The expression of CD59 was found to be significantly lower on CD14(+) monocytes in patients with neovascular AMD compared with controls (Singh et al., 2012). Introduction of human CD59 using adenoviral vectors as a possible therapeutic strategy has been proposed (Ramo et al., 2008).
Disease Molecular basis for AMD is not well understood, a growing body of evidence has recently implicated inflammatory processes, specifically the complement system, in the pathogenesis of this disease (Johnson et al., 2000).
Prognosis AMD is the leading cause of blindness among the elderly in industrialized nations (Klein et al., 2008).
  
  
Entity Major depression
Note Expression of CD59 has been found significantly inhibited in an animal model of major depression (Pajer et al., 2012). This suggests that neurons become more susceptible to complement-mediated damage.
Disease Early-onset major depressive disorder (MDD) is a serious psychiatric condition occurring in people under 25 years of age. Early onset of MDD predicts greater familial risk, suggesting a substantial genetic etiology. Approximately 1% of the population of 12 years has MDD, but rates increase to 17-25% by late adolescence and young adulthood (Pajer et al., 2012).
  

Breakpoints

Note Chromosomal in situ hybridization and pulsed field gel electrophoresis mapped the CD59 gene to 11p13, distal to the breakpoint of acute TCL2 (T-Cell Leukemia) and proximal to the Wilms tumor gene (WT1) (Heckl-Ostreicher et al., 1993).

Bibliography

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Citation

This paper should be referenced as such :
Donev, RM ; Kolev, MV
CD59 (CD59 molecule, complement regulatory protein)
Atlas Genet Cytogenet Oncol Haematol. 2013;17(6):391-395.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/CD59ID985ch11p13.html

External links

Nomenclature
HGNC (Hugo)CD59   1689
LRG (Locus Reference Genomic)LRG_41
Cards
AtlasCD59ID985ch11p13
Entrez_Gene (NCBI)CD59  966  CD59 molecule (CD59 blood group)
Aliases16.3A5; 1F5; EJ16; EJ30; 
EL32; G344; HRF-20; HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL; MSK21; p18-20
GeneCards (Weizmann)CD59
Ensembl hg19 (Hinxton)ENSG00000085063 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000085063 [Gene_View]  chr11:33703010-33736479 [Contig_View]  CD59 [Vega]
ICGC DataPortalENSG00000085063
TCGA cBioPortalCD59
AceView (NCBI)CD59
Genatlas (Paris)CD59
WikiGenes966
SOURCE (Princeton)CD59
Genetics Home Reference (NIH)CD59
Genomic and cartography
GoldenPath hg38 (UCSC)CD59  -     chr11:33703010-33736479 -  11p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CD59  -     11p13   [Description]    (hg19-Feb_2009)
EnsemblCD59 - 11p13 [CytoView hg19]  CD59 - 11p13 [CytoView hg38]
Mapping of homologs : NCBICD59 [Mapview hg19]  CD59 [Mapview hg38]
OMIM107271   612300   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_000611 NM_001127223 NM_001127225 NM_001127226 NM_001127227 NM_203329 NM_203330 NM_203331
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CD59
Cluster EST : UnigeneHs.710641 [ NCBI ]
CGAP (NCI)Hs.710641
Alternative Splicing GalleryENSG00000085063
Gene ExpressionCD59 [ NCBI-GEO ]   CD59 [ EBI - ARRAY_EXPRESS ]   CD59 [ SEEK ]   CD59 [ MEM ]
Gene Expression Viewer (FireBrowse)CD59 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)966
GTEX Portal (Tissue expression)CD59
Human Protein AtlasENSG00000085063-CD59 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13987   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP13987  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP13987
Splice isoforms : SwissVarP13987
PhosPhoSitePlusP13987
Domaine pattern : Prosite (Expaxy)LY6_UPAR (PS00983)   
Domains : Interpro (EBI)CD59_antigen_CS    CD59_glyco    LY6_UPA_recep-like   
Domain families : Pfam (Sanger)UPAR_LY6 (PF00021)   
Domain families : Pfam (NCBI)pfam00021   
Domain families : Smart (EMBL)LU (SM00134)  
Conserved Domain (NCBI)CD59
DMDM Disease mutations966
Blocks (Seattle)CD59
PDB (SRS)1CDQ    1CDR    1CDS    1ERG    1ERH    2J8B    2OFS    2UWR    2UX2    4BIK    5IMT    5IMY   
PDB (PDBSum)1CDQ    1CDR    1CDS    1ERG    1ERH    2J8B    2OFS    2UWR    2UX2    4BIK    5IMT    5IMY   
PDB (IMB)1CDQ    1CDR    1CDS    1ERG    1ERH    2J8B    2OFS    2UWR    2UX2    4BIK    5IMT    5IMY   
PDB (RSDB)1CDQ    1CDR    1CDS    1ERG    1ERH    2J8B    2OFS    2UWR    2UX2    4BIK    5IMT    5IMY   
Structural Biology KnowledgeBase1CDQ    1CDR    1CDS    1ERG    1ERH    2J8B    2OFS    2UWR    2UX2    4BIK    5IMT    5IMY   
SCOP (Structural Classification of Proteins)1CDQ    1CDR    1CDS    1ERG    1ERH    2J8B    2OFS    2UWR    2UX2    4BIK    5IMT    5IMY   
CATH (Classification of proteins structures)1CDQ    1CDR    1CDS    1ERG    1ERH    2J8B    2OFS    2UWR    2UX2    4BIK    5IMT    5IMY   
SuperfamilyP13987
Human Protein Atlas [tissue]ENSG00000085063-CD59 [tissue]
Peptide AtlasP13987
HPRD00117
IPIIPI00011302   IPI00983742   IPI00983941   IPI00980045   IPI00983417   
Protein Interaction databases
DIP (DOE-UCLA)P13987
IntAct (EBI)P13987
FunCoupENSG00000085063
BioGRIDCD59
STRING (EMBL)CD59
ZODIACCD59
Ontologies - Pathways
QuickGOP13987
Ontology : AmiGOGolgi membrane  cell activation  complement binding  negative regulation of activation of membrane attack complex  protein binding  extracellular space  endoplasmic reticulum membrane  plasma membrane  focal adhesion  ER to Golgi vesicle-mediated transport  cell surface receptor signaling pathway  blood coagulation  cell surface  ER to Golgi transport vesicle membrane  membrane  regulation of complement activation  regulation of complement activation  anchored component of external side of plasma membrane  vesicle  endoplasmic reticulum-Golgi intermediate compartment membrane  specific granule membrane  positive regulation of T cell proliferation  sarcolemma  negative regulation of apoptotic process  compact myelin  neutrophil degranulation  COPII vesicle coating  extracellular exosome  tertiary granule membrane  
Ontology : EGO-EBIGolgi membrane  cell activation  complement binding  negative regulation of activation of membrane attack complex  protein binding  extracellular space  endoplasmic reticulum membrane  plasma membrane  focal adhesion  ER to Golgi vesicle-mediated transport  cell surface receptor signaling pathway  blood coagulation  cell surface  ER to Golgi transport vesicle membrane  membrane  regulation of complement activation  regulation of complement activation  anchored component of external side of plasma membrane  vesicle  endoplasmic reticulum-Golgi intermediate compartment membrane  specific granule membrane  positive regulation of T cell proliferation  sarcolemma  negative regulation of apoptotic process  compact myelin  neutrophil degranulation  COPII vesicle coating  extracellular exosome  tertiary granule membrane  
Pathways : KEGGComplement and coagulation cascades    Hematopoietic cell lineage   
REACTOMEP13987 [protein]
REACTOME PathwaysR-HSA-977606 [pathway]   
NDEx NetworkCD59
Atlas of Cancer Signalling NetworkCD59
Wikipedia pathwaysCD59
Orthology - Evolution
OrthoDB966
GeneTree (enSembl)ENSG00000085063
Phylogenetic Trees/Animal Genes : TreeFamCD59
HOVERGENP13987
HOGENOMP13987
Homologs : HomoloGeneCD59
Homology/Alignments : Family Browser (UCSC)CD59
Gene fusions - Rearrangements
Fusion: TCGACD59 11p13 FBXO3 11p13 BRCA
Fusion Cancer (Beijing)CD59 [11p13]  -  COL7A1 [3p21.31]  [FUSC002407]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCD59 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CD59
dbVarCD59
ClinVarCD59
1000_GenomesCD59 
Exome Variant ServerCD59
ExAC (Exome Aggregation Consortium)ENSG00000085063
GNOMAD BrowserENSG00000085063
Genetic variants : HAPMAP966
Genomic Variants (DGV)CD59 [DGVbeta]
DECIPHERCD59 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCD59 
Mutations
ICGC Data PortalCD59 
TCGA Data PortalCD59 
Broad Tumor PortalCD59
OASIS PortalCD59 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCD59  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCD59
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch CD59
DgiDB (Drug Gene Interaction Database)CD59
DoCM (Curated mutations)CD59 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CD59 (select a term)
intoGenCD59
NCG5 (London)CD59
Cancer3DCD59(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM107271    612300   
Orphanet17863   
MedgenCD59
Genetic Testing Registry CD59
NextProtP13987 [Medical]
TSGene966
GENETestsCD59
Target ValidationCD59
Huge Navigator CD59 [HugePedia]
snp3D : Map Gene to Disease966
BioCentury BCIQCD59
ClinGenCD59
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD966
Chemical/Pharm GKB GenePA26228
Clinical trialCD59
Miscellaneous
canSAR (ICR)CD59 (select the gene name)
Probes
Litterature
PubMed191 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCD59
EVEXCD59
GoPubMedCD59
iHOPCD59
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Oct 12 16:18:22 CEST 2017
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