ENSG00000085063


Homo sapiens

Features
Gene ID: ENSG00000085063
  
Biological name :CD59
  
Synonyms : CD59 / CD59 molecule (CD59 blood group) / P13987
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: p13
Gene start: 33703010
Gene end: 33736491
  
Corresponding Affymetrix probe sets: 200983_x_at (Human Genome U133 Plus 2.0 Array)   200984_s_at (Human Genome U133 Plus 2.0 Array)   200985_s_at (Human Genome U133 Plus 2.0 Array)   212463_at (Human Genome U133 Plus 2.0 Array)   228748_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000494884
Ensembl peptide - ENSP00000436737
Ensembl peptide - ENSP00000495784
Ensembl peptide - ENSP00000340210
Ensembl peptide - ENSP00000379191
Ensembl peptide - ENSP00000402425
Ensembl peptide - ENSP00000403511
Ensembl peptide - ENSP00000404822
Ensembl peptide - ENSP00000410182
Ensembl peptide - ENSP00000432942
Ensembl peptide - ENSP00000434617
NCBI entrez gene - 966     See in Manteia.
OMIM - 107271
RefSeq - NM_001127225
RefSeq - NM_000611
RefSeq - NM_001127223
RefSeq - NM_001127226
RefSeq - NM_001127227
RefSeq - NM_203329
RefSeq - NM_203330
RefSeq - NM_203331
RefSeq Peptide - NP_976075
RefSeq Peptide - NP_976076
RefSeq Peptide - NP_001120695
RefSeq Peptide - NP_001120697
RefSeq Peptide - NP_001120698
RefSeq Peptide - NP_001120699
RefSeq Peptide - NP_000602
RefSeq Peptide - NP_976074
swissprot - P13987
swissprot - E9PI80
swissprot - Q6FHM9
Ensembl - ENSG00000085063
  
Related genetic diseases (OMIM): 612300 - Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ENSGALG00000040371Gallus gallus
 Cd59aENSMUSG00000032679Mus musculus
 Cd59bENSMUSG00000068686Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P13987 / AL049629.2 / CD59 glycoprotein ENSG00000284969100


Protein motifs (from Interpro)
Interpro ID Name
 IPR016054  Ly-6 antigen/uPA receptor-like
 IPR018363  CD59 antigen, conserved site
 IPR027101  CD59 glycoprotein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001775 cell activation IBA
 biological_processGO:0001971 negative regulation of activation of membrane attack complex IEA
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport TAS
 biological_processGO:0007166 cell surface receptor signaling pathway TAS
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0030449 regulation of complement activation IBA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0048208 COPII vesicle coating TAS
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005886 plasma membrane NAS
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0012507 ER to Golgi transport vesicle membrane TAS
 cellular_componentGO:0016020 membrane TAS
 cellular_componentGO:0030133 transport vesicle TAS
 cellular_componentGO:0031225 anchored component of membrane IEA
 cellular_componentGO:0031362 anchored component of external side of plasma membrane IDA
 cellular_componentGO:0031982 vesicle HDA
 cellular_componentGO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane TAS
 cellular_componentGO:0035579 specific granule membrane TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0070821 tertiary granule membrane TAS
 molecular_functionGO:0001848 complement binding IBA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0001284 Areflexia 
Show

 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
Show

 HP:0001878 Hemolytic anemia 
Show

 HP:0002922 Increased CSF protein 
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
Show

 HP:0003593 Early onset 
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 HP:0003690 Limb muscle weakness "Weakness of the muscles of the arms and legs." [HPO:curators]
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 HP:0004818 paroxysmal nocturnal hemoglobinuria 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000176919 C8G / P07360 / complement C8 gamma chain  / complex / reaction
 ENSG00000106804 C5 / P01031 / complement C5  / reaction / complex
 ENSG00000113600 C9 / P02748 / complement C9  / reaction / complex
 ENSG00000039537 C6 / P13671 / complement C6  / reaction / complex
 ENSG00000086598 TMED2 / Q15363 / transmembrane p24 trafficking protein 2  / reaction / complex
 ENSG00000170348 P49755 / TMED10 / transmembrane p24 trafficking protein 10  / reaction / complex
 ENSG00000112936 C7 / P10643 / complement C7  / reaction / complex
 ENSG00000157131 C8A / P07357 / complement C8 alpha chain  / complex / reaction
 ENSG00000021852 C8B / P07358 / complement C8 beta chain  / reaction / complex






 

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