ENSG00000157131


Homo sapiens

Features
Gene ID: ENSG00000157131
  
Biological name :C8A
  
Synonyms : C8A / complement C8 alpha chain / P07357
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p32.2
Gene start: 56854806
Gene end: 56918221
  
Corresponding Affymetrix probe sets: 206305_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000354458
NCBI entrez gene - 731     See in Manteia.
OMIM - 120950
RefSeq - NM_000562
RefSeq Peptide - NP_000553
swissprot - P07357
Ensembl - ENSG00000157131
  
Related genetic diseases (OMIM): 613790 - C8 deficiency, type I, 613790
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
 c8aENSDARG00000039516Danio rerio
 C8AENSGALG00000010850Gallus gallus
 C8aENSMUSG00000035031Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
C8B / P07358 / complement C8 beta chainENSG0000002185233
C6 / P13671 / complement C6ENSG0000003953731
C7 / P10643 / complement C7ENSG0000011293628
C9 / P02748 / complement C9ENSG0000011360026


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
 IPR036383  Thrombospondin type-1 (TSP1) repeat superfamily
 IPR037565  Complement component C8 alpha chain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006955 immune response TAS
 biological_processGO:0006956 complement activation IDA
 biological_processGO:0006957 complement activation, alternative pathway IEA
 biological_processGO:0006958 complement activation, classical pathway IEA
 biological_processGO:0019835 cytolysis IEA
 biological_processGO:0030449 regulation of complement activation TAS
 biological_processGO:0045087 innate immune response IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005579 membrane attack complex IDA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane TAS
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0001848 complement binding IEA
 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: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]
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 HP:0001287 Meningitis 
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 HP:0002725 Systemic lupus erythematosus 
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 HP:0004434 C8 deficiency 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000176919 C8G / P07360 / complement C8 gamma chain  / complex
 ENSG00000109072 VTN / P04004 / vitronectin  / complex / reaction
 ENSG00000106804 C5 / P01031 / complement C5  / reaction / complex
 ENSG00000113600 C9 / P02748 / complement C9  / reaction / complex
 ENSG00000039537 C6 / P13671 / complement C6  / complex / reaction
 ENSG00000112936 C7 / P10643 / complement C7  / reaction / complex
 ENSG00000120885 CLU / P10909 / clusterin  / complex / reaction
 ENSG00000021852 C8B / P07358 / complement C8 beta chain  / complex
 ENSG00000085063 CD59 / P13987 / CD59 molecule (CD59 blood group)  / reaction / complex






 

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