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UniProtKB - P13987 (CD59_HUMAN)

Protein

CD59 glycoprotein

Gene

CD59

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

ReactomeiR-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 glycoprotein
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000085063.14
HGNCiHGNC:1689 CD59
MIMi107271 gene
neXtProtiNX_P13987

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Hemolytic anemia, CD59-mediated, with or without polyneuropathy (HACD59)2 Publications
The disease is caused by mutations 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.
See also OMIM:612300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07012489C → Y in HACD59. 1 PublicationCorresponds to variant dbSNP:rs397514767EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi29Y → R: No loss of function. 1 Publication1
Mutagenesisi33N → R or Q: No loss of function. 1 Publication1
Mutagenesisi37D → R: No loss of function. 1 Publication1
Mutagenesisi48F → R: Some loss of function. Some lysis. 1 Publication1
Mutagenesisi49D → R: Loss of function. Lysis. 1 Publication1
Mutagenesisi58L → E: No loss of function. 1 Publication1
Mutagenesisi63K → E: No loss of function. 1 Publication1
Mutagenesisi65W → E: Complete loss of function. Lysis. 1 Publication1
Mutagenesisi66K → D: No loss of function. 1 Publication1
Mutagenesisi66K → Q: Loss of glycation mediated inactivation. 1 Publication1
Mutagenesisi67F → K: No loss of function. 1 Publication1
Mutagenesisi69H → Q: Loss of glycation mediated inactivation. 1 Publication1
Mutagenesisi72F → E: Almost complete loss of function. Lysis. 1 Publication1
Mutagenesisi78R → E: Loss of function. Lysis. 1 Publication1
Mutagenesisi79L → D: No loss of function. 1 Publication1
Mutagenesisi81E → R: Almost complete loss of function. Lysis. 1 Publication1
Mutagenesisi82N → K: No loss of function. 1 Publication1
Mutagenesisi87Y → R: No loss of function. 1 Publication1

Keywords - Diseasei

Disease mutation, Hereditary hemolytic anemia

Organism-specific databases

DisGeNETi966
MalaCardsiCD59
MIMi612300 phenotype
OpenTargetsiENSG00000085063
Orphaneti169464 Primary CD59 deficiency
PharmGKBiPA26228

Polymorphism and mutation databases

BioMutaiCD59
DMDMi116021

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25Combined sources1 PublicationAdd BLAST25
ChainiPRO_000003610826 – 102CD59 glycoproteinAdd BLAST77
PropeptideiPRO_0000036109103 – 128Removed in mature form1 PublicationAdd BLAST26

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi28 ↔ 511 Publication
Disulfide bondi31 ↔ 381 Publication
Glycosylationi43N-linked (GlcNAc...) asparagine2 Publications1
Disulfide bondi44 ↔ 641 Publication
Glycosylationi66N-linked (Glc) (glycation) lysine1 Publication1
Disulfide bondi70 ↔ 881 Publication
Glycosylationi76O-linked (GalNAc...) threonineCurated1
Glycosylationi77O-linked (GalNAc...) threonineCurated1
Disulfide bondi89 ↔ 941 Publication
Lipidationi102GPI-anchor amidated asparagine2 Publications1

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, Lipoprotein

Proteomic databases

EPDiP13987
PaxDbiP13987
PeptideAtlasiP13987
PRIDEiP13987
ProteomicsDBi53014

PTM databases

GlyConnecti79
iPTMnetiP13987
PhosphoSitePlusiP13987
SwissPalmiP13987
UniCarbKBiP13987

Expressioni

Gene expression databases

BgeeiENSG00000085063 Expressed in 234 organ(s), highest expression level in chorionic villus
CleanExiHS_CD59
ExpressionAtlasiP13987 baseline and differential
GenevisibleiP13987 HS

Organism-specific databases

HPAiCAB001448
HPA026494

Interactioni

Subunit structurei

Interacts with T-cell surface antigen CD2.1 Publication

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi107404, 37 interactors
IntActiP13987, 26 interactors
MINTiP13987
STRINGi9606.ENSP00000340210

Structurei

Secondary structure

1128
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP13987
SMRiP13987
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP13987

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini26 – 108UPAR/Ly6Add BLAST83

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410J39P Eukaryota
ENOG410ZEQP LUCA
GeneTreeiENSGT00390000016309
HOGENOMiHOG000232180
HOVERGENiHBG005284
InParanoidiP13987
KOiK04008
OMAiERGGMTY
PhylomeDBiP13987
TreeFamiTF338524

Family and domain databases

InterProiView protein in InterPro
IPR018363 CD59_antigen_CS
IPR027101 CD59_glyco
IPR016054 LY6_UPA_recep-like
PANTHERiPTHR10036:SF9 PTHR10036:SF9, 1 hit
PfamiView protein in Pfam
PF00021 UPAR_LY6, 1 hit
SMARTiView protein in SMART
SM00134 LU, 1 hit
PROSITEiView protein in PROSITE
PS00983 LY6_UPAR, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P13987-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:128
Mass (Da):14,177
Last modified:January 1, 1990 - v1
Checksum:i2F0D29CBE3C28505
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PI80E9PI80_HUMAN
CD59 glycoprotein
CD59
119Annotation score:
A0A2U3TZL5A0A2U3TZL5_HUMAN
CD59 glycoprotein
CD59
120Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07012489C → Y in HACD59. 1 PublicationCorresponds to variant dbSNP:rs397514767EnsemblClinVar.1

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
BC001506 mRNA Translation: AAH01506.1
CCDSiCCDS7886.1
PIRiA46252 RWHU59
RefSeqiNP_000602.1, NM_000611.5
NP_001120695.1, NM_001127223.1
NP_001120697.1, NM_001127225.1
NP_001120698.1, NM_001127226.1
NP_001120699.1, NM_001127227.1
NP_976074.1, NM_203329.2
NP_976075.1, NM_203330.2
NP_976076.1, NM_203331.2
UniGeneiHs.278573
Hs.709466
Hs.710641

Genome annotation databases

EnsembliENST00000351554; ENSP00000340210; ENSG00000085063
ENST00000395850; ENSP00000379191; ENSG00000085063
ENST00000415002; ENSP00000404822; ENSG00000085063
ENST00000426650; ENSP00000402425; ENSG00000085063
ENST00000437761; ENSP00000410182; ENSG00000085063
ENST00000445143; ENSP00000403511; ENSG00000085063
ENST00000527577; ENSP00000432942; ENSG00000085063
ENST00000642928; ENSP00000494884; ENSG00000085063
GeneIDi966
KEGGihsa:966

Similar 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
BC001506 mRNA Translation: AAH01506.1
CCDSiCCDS7886.1
PIRiA46252 RWHU59
RefSeqiNP_000602.1, NM_000611.5
NP_001120695.1, NM_001127223.1
NP_001120697.1, NM_001127225.1
NP_001120698.1, NM_001127226.1
NP_001120699.1, NM_001127227.1
NP_976074.1, NM_203329.2
NP_976075.1, NM_203330.2
NP_976076.1, NM_203331.2
UniGeneiHs.278573
Hs.709466
Hs.710641

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1CDQNMR-A26-102[»]
1CDRNMR-A26-102[»]
1CDSNMR-A26-102[»]
1ERGNMR-A26-95[»]
1ERHNMR-A26-95[»]
2J8BX-ray1.15A26-103[»]
2OFSX-ray2.12A26-99[»]
2UWRX-ray1.34A26-102[»]
2UX2X-ray1.80A/B/C26-102[»]
4BIKX-ray3.49B/D26-102[»]
5IMTX-ray2.70D26-102[»]
5IMYX-ray2.40C/D26-102[»]
ProteinModelPortaliP13987
SMRiP13987
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107404, 37 interactors
IntActiP13987, 26 interactors
MINTiP13987
STRINGi9606.ENSP00000340210

PTM databases

GlyConnecti79
iPTMnetiP13987
PhosphoSitePlusiP13987
SwissPalmiP13987
UniCarbKBiP13987

Polymorphism and mutation databases

BioMutaiCD59
DMDMi116021

Proteomic databases

EPDiP13987
PaxDbiP13987
PeptideAtlasiP13987
PRIDEiP13987
ProteomicsDBi53014

Protocols and materials databases

DNASUi966
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000351554; ENSP00000340210; ENSG00000085063
ENST00000395850; ENSP00000379191; ENSG00000085063
ENST00000415002; ENSP00000404822; ENSG00000085063
ENST00000426650; ENSP00000402425; ENSG00000085063
ENST00000437761; ENSP00000410182; ENSG00000085063
ENST00000445143; ENSP00000403511; ENSG00000085063
ENST00000527577; ENSP00000432942; ENSG00000085063
ENST00000642928; ENSP00000494884; ENSG00000085063
GeneIDi966
KEGGihsa:966

Organism-specific databases

CTDi966
DisGeNETi966
EuPathDBiHostDB:ENSG00000085063.14
GeneCardsiCD59
ENSG00000284969
H-InvDBiHIX0171358
HGNCiHGNC:1689 CD59
HPAiCAB001448
HPA026494
MalaCardsiCD59
MIMi107271 gene
612300 phenotype
neXtProtiNX_P13987
OpenTargetsiENSG00000085063
Orphaneti169464 Primary CD59 deficiency
PharmGKBiPA26228
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J39P Eukaryota
ENOG410ZEQP LUCA
GeneTreeiENSGT00390000016309
HOGENOMiHOG000232180
HOVERGENiHBG005284
InParanoidiP13987
KOiK04008
OMAiERGGMTY
PhylomeDBiP13987
TreeFamiTF338524

Enzyme and pathway databases

ReactomeiR-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

ChiTaRSiCD59 human
EvolutionaryTraceiP13987
GeneWikiiCD59
GenomeRNAii966
PROiPR:P13987
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000085063 Expressed in 234 organ(s), highest expression level in chorionic villus
CleanExiHS_CD59
ExpressionAtlasiP13987 baseline and differential
GenevisibleiP13987 HS

Family and domain databases

InterProiView protein in InterPro
IPR018363 CD59_antigen_CS
IPR027101 CD59_glyco
IPR016054 LY6_UPA_recep-like
PANTHERiPTHR10036:SF9 PTHR10036:SF9, 1 hit
PfamiView protein in Pfam
PF00021 UPAR_LY6, 1 hit
SMARTiView protein in SMART
SM00134 LU, 1 hit
PROSITEiView protein in PROSITE
PS00983 LY6_UPAR, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCD59_HUMAN
AccessioniPrimary (citable) accession number: P13987
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: January 1, 1990
Last modified: November 7, 2018
This is version 207 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  6. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
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