ENSG00000113600


Homo sapiens

Features
Gene ID: ENSG00000113600
  
Biological name :C9
  
Synonyms : C9 / complement C9 / P02748
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: p13.1
Gene start: 39284262
Gene end: 39424868
  
Corresponding Affymetrix probe sets: 206727_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000263408
NCBI entrez gene - 735     See in Manteia.
OMIM - 120940
RefSeq - NM_001737
RefSeq Peptide - NP_001728
swissprot - P02748
Ensembl - ENSG00000113600
  
Related genetic diseases (OMIM): 613825 - C9 deficiency, 613825
  615591 - {Macular degeneration, age-related, 15, susceptibility to}, 615591
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
 c9ENSDARG00000016319Danio rerio
 C9ENSMUSG00000022149Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
C8A / P07357 / complement C8 alpha chainENSG0000015713127
C7 / P10643 / complement C7ENSG0000011293625
C6 / P13671 / complement C6ENSG0000003953725
C8B / P07358 / complement C8 beta chainENSG0000002185225


Protein motifs (from Interpro)
Interpro ID Name
 IPR000884  Thrombospondin type-1 (TSP1) repeat
 IPR001862  Membrane attack complex component/perforin/complement C9
 IPR002172  Low-density lipoprotein (LDL) receptor class A repeat
 IPR009030  Growth factor receptor cysteine-rich domain superfamily
 IPR016186  C-type lectin-like/link domain superfamily
 IPR020863  Membrane attack complex component/perforin domain, conserved site
 IPR020864  Membrane attack complex component/perforin (MACPF) domain
 IPR023415  Low-density lipoprotein (LDL) receptor class A, conserved site
 IPR036055  LDL receptor-like superfamily
 IPR036383  Thrombospondin type-1 (TSP1) repeat superfamily
 IPR037567  Complement component C9


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001906 cell killing IDA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006955 immune response IEA
 biological_processGO:0006957 complement activation, alternative pathway IEA
 biological_processGO:0006958 complement activation, classical pathway IEA
 biological_processGO:0019835 cytolysis IEA
 biological_processGO:0019836 hemolysis by symbiont of host erythrocytes TAS
 biological_processGO:0030449 regulation of complement activation TAS
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0051260 protein homooligomerization IDA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005579 membrane attack complex IDA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0044218 other organism cell membrane IEA
 cellular_componentGO:0044279 other organism membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
Terminal pathway of complement
Regulation of Complement cascade


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0012308 Decreased serum complement C9 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000176919 C8G / P07360 / complement C8 gamma chain  / complex / reaction
 ENSG00000109072 VTN / P04004 / vitronectin  / complex / reaction
 ENSG00000106804 C5 / P01031 / complement C5  / complex / reaction
 ENSG00000085063 CD59 / P13987 / CD59 molecule (CD59 blood group)  / reaction / complex
 ENSG00000021852 C8B / P07358 / complement C8 beta chain  / complex / reaction
 ENSG00000157131 C8A / P07357 / complement C8 alpha chain  / complex / reaction
 ENSG00000113600 C9 / P02748 / complement C9  / reaction
 ENSG00000039537 C6 / P13671 / complement C6  / complex / reaction
 ENSG00000112936 C7 / P10643 / complement C7  / reaction / complex
 ENSG00000120885 CLU / P10909 / clusterin  / reaction / complex






 

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