UniProtKB - P13987 (CD59_HUMAN)
Protein
CD59 glycoprotein
Gene
CD59
Organism
Homo sapiens (Human)
Status
Functioni
Potent inhibitor of the complement membrane attack complex (MAC) action. Acts by binding to the C8 and/or C9 complements of the assembling MAC, thereby preventing incorporation of the multiple copies of C9 required for complete formation of the osmolytic pore. This inhibitor appears to be species-specific. Involved in signal transduction for T-cell activation complexed to a protein tyrosine kinase.
The soluble form from urine retains its specific complement binding activity, but exhibits greatly reduced ability to inhibit MAC assembly on cell membranes.
GO - Molecular functioni
- complement binding Source: GO_Central
GO - Biological processi
- blood coagulation Source: ProtInc
- cell surface receptor signaling pathway Source: ProtInc
- COPII vesicle coating Source: Reactome
- endoplasmic reticulum to Golgi vesicle-mediated transport Source: Reactome
- negative regulation of activation of membrane attack complex Source: GO_Central
- neutrophil degranulation Source: Reactome
- regulation of complement activation Source: MGI
- regulation of complement-dependent cytotoxicity Source: MGI
Enzyme and pathway databases
PathwayCommonsi | P13987 |
Reactomei | R-HSA-204005, COPII-mediated vesicle transport R-HSA-5694530, Cargo concentration in the ER R-HSA-6798695, Neutrophil degranulation R-HSA-6807878, COPI-mediated anterograde transport R-HSA-977606, Regulation of Complement cascade |
Names & Taxonomyi
Protein namesi | Recommended name: CD59 glycoproteinAlternative name(s): 1F5 antigen 20 kDa homologous restriction factor Short name: HRF-20 Short name: HRF20 MAC-inhibitory protein Short name: MAC-IP MEM43 antigen Membrane attack complex inhibition factor Short name: MACIF Membrane inhibitor of reactive lysis Short name: MIRL Protectin CD_antigen: CD59 |
Gene namesi | Name:CD59 Synonyms:MIC11, MIN1, MIN2, MIN3, MSK21 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1689, CD59 |
MIMi | 107271, gene |
neXtProti | NX_P13987 |
VEuPathDBi | HostDB:ENSG00000085063.14 |
Subcellular locationi
Extracellular region or secreted
Plasma membrane
Note: Soluble form found in a number of tissues.
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: Reactome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
- extracellular space Source: UniProtKB
Golgi apparatus
- Golgi membrane Source: Reactome
Plasma Membrane
- anchored component of external side of plasma membrane Source: MGI
- plasma membrane Source: GO_Central
Other locations
- cell surface Source: UniProtKB
- endoplasmic reticulum-Golgi intermediate compartment membrane Source: Reactome
- ER to Golgi transport vesicle membrane Source: Reactome
- focal adhesion Source: UniProtKB
- membrane Source: ProtInc
- specific granule membrane Source: Reactome
- tertiary granule membrane Source: Reactome
- transport vesicle Source: Reactome
- vesicle Source: UniProtKB
Keywords - Cellular componenti
Cell membrane, Membrane, SecretedPathology & Biotechi
Involvement in diseasei
Hemolytic anemia, CD59-mediated, with or without polyneuropathy (HACD59)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by infantile onset of chronic hemolysis and a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifested as hypotonia, limb muscle weakness, and hyporeflexia.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070124 | 89 | C → Y in HACD59. 1 PublicationCorresponds to variant dbSNP:rs397514767EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 29 | Y → R: No loss of function. 1 Publication | 1 | |
Mutagenesisi | 33 | N → R or Q: No loss of function. 1 Publication | 1 | |
Mutagenesisi | 37 | D → R: No loss of function. 1 Publication | 1 | |
Mutagenesisi | 48 | F → R: Some loss of function. Some lysis. 1 Publication | 1 | |
Mutagenesisi | 49 | D → R: Loss of function. Lysis. 1 Publication | 1 | |
Mutagenesisi | 58 | L → E: No loss of function. 1 Publication | 1 | |
Mutagenesisi | 63 | K → E: No loss of function. 1 Publication | 1 | |
Mutagenesisi | 65 | W → E: Complete loss of function. Lysis. 1 Publication | 1 | |
Mutagenesisi | 66 | K → D: No loss of function. 1 Publication | 1 | |
Mutagenesisi | 66 | K → Q: Loss of glycation mediated inactivation. 1 Publication | 1 | |
Mutagenesisi | 67 | F → K: No loss of function. 1 Publication | 1 | |
Mutagenesisi | 69 | H → Q: Loss of glycation mediated inactivation. 1 Publication | 1 | |
Mutagenesisi | 72 | F → E: Almost complete loss of function. Lysis. 1 Publication | 1 | |
Mutagenesisi | 78 | R → E: Loss of function. Lysis. 1 Publication | 1 | |
Mutagenesisi | 79 | L → D: No loss of function. 1 Publication | 1 | |
Mutagenesisi | 81 | E → R: Almost complete loss of function. Lysis. 1 Publication | 1 | |
Mutagenesisi | 82 | N → K: No loss of function. 1 Publication | 1 | |
Mutagenesisi | 87 | Y → R: No loss of function. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Hereditary hemolytic anemiaOrganism-specific databases
DisGeNETi | 966 |
MalaCardsi | CD59 |
MIMi | 612300, phenotype |
OpenTargetsi | ENSG00000085063 |
Orphaneti | 169464, Primary CD59 deficiency |
PharmGKBi | PA26228 |
Miscellaneous databases
Pharosi | P13987, Tbio |
Genetic variation databases
BioMutai | CD59 |
DMDMi | 116021 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 25 | Combined sources1 PublicationAdd BLAST | 25 | |
ChainiPRO_0000036108 | 26 – 102 | CD59 glycoproteinAdd BLAST | 77 | |
PropeptideiPRO_0000036109 | 103 – 128 | Removed in mature form1 PublicationAdd BLAST | 26 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 28 ↔ 51 | 1 Publication | ||
Disulfide bondi | 31 ↔ 38 | 1 Publication | ||
Glycosylationi | 43 | N-linked (GlcNAc...) asparagine2 Publications | 1 | |
Disulfide bondi | 44 ↔ 64 | 1 Publication | ||
Glycosylationi | 66 | N-linked (Glc) (glycation) lysine1 Publication | 1 | |
Disulfide bondi | 70 ↔ 88 | 1 Publication | ||
Glycosylationi | 76 | O-linked (GalNAc...) threonineCurated | 1 | |
Glycosylationi | 77 | O-linked (GalNAc...) threonineCurated | 1 | |
Disulfide bondi | 89 ↔ 94 | 1 Publication | ||
Lipidationi | 102 | GPI-anchor amidated asparagine2 Publications | 1 |
Post-translational modificationi
N- and O-glycosylated. The N-glycosylation mainly consists of a family of biantennary complex-type structures with and without lactosamine extensions and outer arm fucose residues. Also significant amounts of triantennary complexes (22%). Variable sialylation also present in the Asn-43 oligosaccharide. The predominant O-glycans are mono-sialylated forms of the disaccharide, Gal-beta-1,3GalNAc, and their sites of attachment are probably on Thr-76 and Thr-77. The GPI-anchor of soluble urinary CD59 has no inositol-associated phospholipid, but is composed of seven different GPI-anchor variants of one or more monosaccharide units. Major variants contain sialic acid, mannose and glucosamine. Sialic acid linked to an N-acetylhexosamine-galactose arm is present in two variants.2 Publications
Glycated. Glycation is found in diabetic subjects, but only at minimal levels in nondiabetic subjects. Glycated CD59 lacks MAC-inhibitory function and confers to vascular complications of diabetes.
Keywords - PTMi
Disulfide bond, Glycation, Glycoprotein, GPI-anchor, LipoproteinProteomic databases
CPTACi | CPTAC-43 CPTAC-44 |
EPDi | P13987 |
jPOSTi | P13987 |
MassIVEi | P13987 |
PaxDbi | P13987 |
PeptideAtlasi | P13987 |
PRIDEi | P13987 |
ProteomicsDBi | 23185 53014 |
PTM databases
GlyConnecti | 79, 115 N-Linked glycans (1 site), 17 O-Linked glycans (4 sites) |
GlyGeni | P13987, 7 sites, 33 N-linked glycans (1 site) |
iPTMneti | P13987 |
PhosphoSitePlusi | P13987 |
SwissPalmi | P13987 |
Expressioni
Gene expression databases
Bgeei | ENSG00000085063, Expressed in chorionic villus and 248 other tissues |
ExpressionAtlasi | P13987, baseline and differential |
Genevisiblei | P13987, HS |
Organism-specific databases
HPAi | ENSG00000085063, Tissue enhanced (placenta) |
Interactioni
Subunit structurei
Interacts with T-cell surface antigen CD2.
1 PublicationBinary interactionsi
Hide detailsP13987
GO - Molecular functioni
- complement binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 107404, 67 interactors |
IntActi | P13987, 37 interactors |
MINTi | P13987 |
STRINGi | 9606.ENSP00000379191 |
Miscellaneous databases
RNActi | P13987, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P13987 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P13987 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 26 – 108 | UPAR/Ly6Add BLAST | 83 |
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | ENOG502SA4P, Eukaryota |
GeneTreei | ENSGT00390000016309 |
HOGENOMi | CLU_147732_1_0_1 |
InParanoidi | P13987 |
OMAi | CSKQRDC |
OrthoDBi | 1586315at2759 |
PhylomeDBi | P13987 |
TreeFami | TF338524 |
Family and domain databases
CDDi | cd00117, LU, 1 hit |
InterProi | View protein in InterPro IPR018363, CD59_antigen_CS IPR027101, CD59_glyco IPR016054, LY6_UPA_recep-like |
PANTHERi | PTHR10036:SF9, PTHR10036:SF9, 1 hit |
Pfami | View protein in Pfam PF00021, UPAR_LY6, 1 hit |
SMARTi | View protein in SMART SM00134, LU, 1 hit |
PROSITEi | View protein in PROSITE PS00983, LY6_UPAR, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: P13987-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGIQGGSVLF GLLLVLAVFC HSGHSLQCYN CPNPTADCKT AVNCSSDFDA
60 70 80 90 100
CLITKAGLQV YNKCWKFEHC NFNDVTTRLR ENELTYYCCK KDLCNFNEQL
110 120
ENGGTSLSEK TVLLLVTPFL AAAWSLHP
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A2U3TZL5 | A0A2U3TZL5_HUMAN | CD59 glycoprotein | CD59 | 120 | Annotation score: | ||
A0A494C059 | A0A494C059_HUMAN | CD59 glycoprotein | CD59 | 114 | Annotation score: | ||
A0A499FJN7 | A0A499FJN7_HUMAN | CD59 glycoprotein | CD59 | 91 | Annotation score: | ||
E9PI80 | E9PI80_HUMAN | CD59 glycoprotein | CD59 | 119 | Annotation score: | ||
A0A494C0W4 | A0A494C0W4_HUMAN | CD59 glycoprotein | CD59 | 25 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070124 | 89 | C → Y in HACD59. 1 PublicationCorresponds to variant dbSNP:rs397514767EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_060064 | 103 – 128 | GGTSL…WSLHP → DTFLKALKDEKLQGLKTKQP GKKSASLS in isoform 2. Add BLAST | 26 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M27909 mRNA Translation: AAA60543.1 M95708 mRNA Translation: AAA60957.1 X16447 mRNA Translation: CAA34467.1 X17198 mRNA Translation: CAA35059.1 M34671 mRNA Translation: AAA51952.1 M84345 Genomic DNA No translation available. M84349, M84346, M84348 Genomic DNA Translation: AAA88793.1 Z14113, Z14114, Z14115 Genomic DNA Translation: CAA78486.1 BT007104 mRNA Translation: AAP35768.1 AL049629 Genomic DNA No translation available. KF455356 Genomic DNA No translation available. BC001506 mRNA Translation: AAH01506.1 |
CCDSi | CCDS7886.1 [P13987-1] |
PIRi | A46252, RWHU59 |
RefSeqi | NP_000602.1, NM_000611.5 [P13987-1] NP_001120695.1, NM_001127223.1 [P13987-1] NP_001120697.1, NM_001127225.1 [P13987-1] NP_001120698.1, NM_001127226.1 [P13987-1] NP_001120699.1, NM_001127227.1 [P13987-1] NP_976074.1, NM_203329.2 [P13987-1] NP_976075.1, NM_203330.2 [P13987-1] NP_976076.1, NM_203331.2 [P13987-1] |
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
CD59base CD59 mutation db |
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M27909 mRNA Translation: AAA60543.1 M95708 mRNA Translation: AAA60957.1 X16447 mRNA Translation: CAA34467.1 X17198 mRNA Translation: CAA35059.1 M34671 mRNA Translation: AAA51952.1 M84345 Genomic DNA No translation available. M84349, M84346, M84348 Genomic DNA Translation: AAA88793.1 Z14113, Z14114, Z14115 Genomic DNA Translation: CAA78486.1 BT007104 mRNA Translation: AAP35768.1 AL049629 Genomic DNA No translation available. KF455356 Genomic DNA No translation available. BC001506 mRNA Translation: AAH01506.1 |
CCDSi | CCDS7886.1 [P13987-1] |
PIRi | A46252, RWHU59 |
RefSeqi | NP_000602.1, NM_000611.5 [P13987-1] NP_001120695.1, NM_001127223.1 [P13987-1] NP_001120697.1, NM_001127225.1 [P13987-1] NP_001120698.1, NM_001127226.1 [P13987-1] NP_001120699.1, NM_001127227.1 [P13987-1] NP_976074.1, NM_203329.2 [P13987-1] NP_976075.1, NM_203330.2 [P13987-1] NP_976076.1, NM_203331.2 [P13987-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1CDQ | NMR | - | A | 26-102 | [»] | |
1CDR | NMR | - | A | 26-102 | [»] | |
1CDS | NMR | - | A | 26-102 | [»] | |
1ERG | NMR | - | A | 26-95 | [»] | |
1ERH | NMR | - | A | 26-95 | [»] | |
2J8B | X-ray | 1.15 | A | 26-103 | [»] | |
2OFS | X-ray | 2.12 | A | 26-99 | [»] | |
2UWR | X-ray | 1.34 | A | 26-102 | [»] | |
2UX2 | X-ray | 1.80 | A/B/C | 26-102 | [»] | |
4BIK | X-ray | 3.49 | B/D | 26-102 | [»] | |
5IMT | X-ray | 2.70 | D | 26-102 | [»] | |
5IMY | X-ray | 2.40 | C/D | 26-102 | [»] | |
6ZD0 | electron microscopy | 4.60 | B/D/F | 26-102 | [»] | |
SMRi | P13987 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107404, 67 interactors |
IntActi | P13987, 37 interactors |
MINTi | P13987 |
STRINGi | 9606.ENSP00000379191 |
PTM databases
GlyConnecti | 79, 115 N-Linked glycans (1 site), 17 O-Linked glycans (4 sites) |
GlyGeni | P13987, 7 sites, 33 N-linked glycans (1 site) |
iPTMneti | P13987 |
PhosphoSitePlusi | P13987 |
SwissPalmi | P13987 |
Genetic variation databases
BioMutai | CD59 |
DMDMi | 116021 |
Proteomic databases
CPTACi | CPTAC-43 CPTAC-44 |
EPDi | P13987 |
jPOSTi | P13987 |
MassIVEi | P13987 |
PaxDbi | P13987 |
PeptideAtlasi | P13987 |
PRIDEi | P13987 |
ProteomicsDBi | 23185 53014 |
Protocols and materials databases
ABCDi | P13987, 1 sequenced antibody |
Antibodypediai | 3667, 1922 antibodies |
DNASUi | 966 |
Genome annotation databases
Organism-specific databases
CTDi | 966 |
DisGeNETi | 966 |
GeneCardsi | CD59 |
HGNCi | HGNC:1689, CD59 |
HPAi | ENSG00000085063, Tissue enhanced (placenta) |
MalaCardsi | CD59 |
MIMi | 107271, gene 612300, phenotype |
neXtProti | NX_P13987 |
OpenTargetsi | ENSG00000085063 |
Orphaneti | 169464, Primary CD59 deficiency |
PharmGKBi | PA26228 |
VEuPathDBi | HostDB:ENSG00000085063.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502SA4P, Eukaryota |
GeneTreei | ENSGT00390000016309 |
HOGENOMi | CLU_147732_1_0_1 |
InParanoidi | P13987 |
OMAi | CSKQRDC |
OrthoDBi | 1586315at2759 |
PhylomeDBi | P13987 |
TreeFami | TF338524 |
Enzyme and pathway databases
PathwayCommonsi | P13987 |
Reactomei | R-HSA-204005, COPII-mediated vesicle transport R-HSA-5694530, Cargo concentration in the ER R-HSA-6798695, Neutrophil degranulation R-HSA-6807878, COPI-mediated anterograde transport R-HSA-977606, Regulation of Complement cascade |
Miscellaneous databases
BioGRID-ORCSi | 966, 4 hits in 992 CRISPR screens |
ChiTaRSi | CD59, human |
EvolutionaryTracei | P13987 |
GeneWikii | CD59 |
GenomeRNAii | 966 |
Pharosi | P13987, Tbio |
PROi | PR:P13987 |
RNActi | P13987, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000085063, Expressed in chorionic villus and 248 other tissues |
ExpressionAtlasi | P13987, baseline and differential |
Genevisiblei | P13987, HS |
Family and domain databases
CDDi | cd00117, LU, 1 hit |
InterProi | View protein in InterPro IPR018363, CD59_antigen_CS IPR027101, CD59_glyco IPR016054, LY6_UPA_recep-like |
PANTHERi | PTHR10036:SF9, PTHR10036:SF9, 1 hit |
Pfami | View protein in Pfam PF00021, UPAR_LY6, 1 hit |
SMARTi | View protein in SMART SM00134, LU, 1 hit |
PROSITEi | View protein in PROSITE PS00983, LY6_UPAR, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CD59_HUMAN | |
Accessioni | P13987Primary (citable) accession number: P13987 Secondary accession number(s): E9PR17 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 1, 1990 |
Last sequence update: | January 1, 1990 | |
Last modified: | April 7, 2021 | |
This is version 225 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human cell differentiation molecules
CD nomenclature of surface proteins of human leucocytes and list of entries - Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references