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Aliases for C8A Gene

Aliases for C8A Gene

  • Complement Component 8, Alpha Polypeptide 2 3
  • Complement Component 8 Subunit Alpha 4

External Ids for C8A Gene

Previous GeneCards Identifiers for C8A Gene

  • GC01P057237
  • GC01P056235
  • GC01P056678
  • GC01P056690
  • GC01P057032
  • GC01P055432

Summaries for C8A Gene

Entrez Gene Summary for C8A Gene

  • C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008]

GeneCards Summary for C8A Gene

C8A (Complement Component 8, Alpha Polypeptide) is a Protein Coding gene. Diseases associated with C8A include c8 deficiency, type i and immunodeficiency due to a late component of complements deficiency. Among its related pathways are Complement and coagulation cascades and Amoebiasis. An important paralog of this gene is C6.

UniProtKB/Swiss-Prot for C8A Gene

  • Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C8A inserts into the target membrane, but does not form pores by itself.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C8A Gene

Genomics for C8A Gene

Regulatory Elements for C8A Gene

Genomic Location for C8A Gene

Start:
56,854,770 bp from pter
End:
56,918,221 bp from pter
Size:
63,452 bases
Orientation:
Plus strand

Genomic View for C8A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C8A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C8A Gene

Proteins for C8A Gene

  • Protein details for C8A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07357-CO8A_HUMAN
    Recommended name:
    Complement component C8 alpha chain
    Protein Accession:
    P07357
    Secondary Accessions:
    • A2RUI4
    • A2RUI5
    • Q13668
    • Q9H130

    Protein attributes for C8A Gene

    Size:
    584 amino acids
    Molecular mass:
    65163 Da
    Quaternary structure:
    • Heterotrimer of 3 chains: alpha, beta and gamma. The alpha and gamma chains are disulfide bonded. Component of the membrane attack complex (MAC). MAC assembly is initiated by protelytic cleavage of C5 into C5a and C5b. C5b binds sequentially C6, C7, C8 and multiple copies of the pore-forming subunit C9.

    Three dimensional structures from OCA and Proteopedia for C8A Gene

neXtProt entry for C8A Gene

Proteomics data for C8A Gene at MOPED

Post-translational modifications for C8A Gene

  • Glycosylation at Trp44, Asn437, Trp542, Trp545, and Trp548
  • Modification sites at PhosphoSitePlus

Other Protein References for C8A Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for C8A Gene

Domains for C8A Gene

Gene Families for C8A Gene

HGNC:

Suggested Antigen Peptide Sequences for C8A Gene

Graphical View of Domain Structure for InterPro Entry

P07357

UniProtKB/Swiss-Prot:

CO8A_HUMAN :
  • P07357
Domain:
  • Contains 1 EGF-like domain.
  • Contains 1 LDL-receptor class A domain.
  • Contains 1 MACPF domain.
  • Contains 2 TSP type-1 domains.
Family:
  • Belongs to the complement C6/C7/C8/C9 family.
genes like me logo Genes that share domains with C8A: view

Function for C8A Gene

Molecular function for C8A Gene

GENATLAS Biochemistry: complement component 8,gamma-1 globulin,alpha polypeptide,64.8kDa, (<2.5kb, 5 from C8B),complexing with other late components of the cascade to form the membrane attack complex
UniProtKB/Swiss-Prot Function: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C8A inserts into the target membrane, but does not form pores by itself.

Gene Ontology (GO) - Molecular Function for C8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001848 complement binding IEA --
GO:0005515 protein binding --
GO:0032403 protein complex binding IEA --
genes like me logo Genes that share ontologies with C8A: view

Phenotypes for C8A Gene

genes like me logo Genes that share phenotypes with C8A: view

miRNA for C8A Gene

miRTarBase miRNAs that target C8A

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for C8A Gene

Localization for C8A Gene

Subcellular locations from UniProtKB/Swiss-Prot for C8A Gene

Secreted. Cell membrane; Multi-pass membrane protein. Note=Secreted as soluble protein. Inserts into the cell membrane of target cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C8A Gene COMPARTMENTS Subcellular localization image for C8A gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 1
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for C8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005579 membrane attack complex IDA 12413696
GO:0005615 extracellular space TAS 6771072
GO:0016020 membrane TAS 2820471
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with C8A: view

Pathways for C8A Gene

genes like me logo Genes that share pathways with C8A: view

Gene Ontology (GO) - Biological Process for C8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response TAS 6771072
GO:0006956 complement activation IDA 12413696
GO:0006957 complement activation, alternative pathway IEA --
GO:0006958 complement activation, classical pathway IEA --
GO:0019835 cytolysis IEA --
genes like me logo Genes that share ontologies with C8A: view

Transcripts for C8A Gene

mRNA/cDNA for C8A Gene

(47) Selected AceView cDNA sequences:
(5) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C8A Gene

Complement component 8, alpha polypeptide:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C8A Gene

No ASD Table

Relevant External Links for C8A Gene

GeneLoc Exon Structure for
C8A
ECgene alternative splicing isoforms for
C8A

Expression for C8A Gene

mRNA expression in normal human tissues for C8A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C8A Gene

This gene is overexpressed in Liver (52.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for C8A Gene

SOURCE GeneReport for Unigene cluster for C8A Gene Hs.93210

genes like me logo Genes that share expressions with C8A: view

No data available for mRNA Expression by UniProt/SwissProt for C8A Gene

Orthologs for C8A Gene

This gene was present in the common ancestor of chordates.

Orthologs for C8A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C8A 35
  • 99.43 (n)
  • 99.32 (a)
C8A 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C8A 35
  • 82.66 (n)
  • 76.96 (a)
C8A 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C8A 35
  • 84.42 (n)
  • 78.08 (a)
C8A 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C8a 35
  • 78.88 (n)
  • 72.6 (a)
C8a 16
C8a 36
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C8A 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C8A 36
  • 49 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C8a 35
  • 79.28 (n)
  • 74.14 (a)
chicken
(Gallus gallus)
Aves C8A 35
  • 60.93 (n)
  • 54.79 (a)
C8A 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C8A 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c8a 35
  • 57.36 (n)
  • 52.07 (a)
zebrafish
(Danio rerio)
Actinopterygii c8a 35
  • 52.31 (n)
  • 44.12 (a)
c8a 36
  • 39 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
ManyToMany
-- 36
  • 30 (a)
ManyToMany
-- 36
  • 26 (a)
ManyToMany
-- 36
  • 26 (a)
ManyToMany
-- 36
  • 30 (a)
ManyToMany
-- 36
  • 25 (a)
ManyToMany
Species with no ortholog for C8A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C8A Gene

ENSEMBL:
Gene Tree for C8A (if available)
TreeFam:
Gene Tree for C8A (if available)

Paralogs for C8A Gene

Paralogs for C8A Gene

Selected SIMAP similar genes for C8A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with C8A: view

Variants for C8A Gene

Sequence variations from dbSNP and Humsavar for C8A Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs14626 -- 56,917,827(+) TTTTT(C/T)TTTGT utr-variant-3-prime
rs585061 -- 56,902,027(-) ACAGC(A/G)GAATA intron-variant
rs591916 -- 56,878,049(-) ACCCT(A/G)ACTTC intron-variant
rs592451 -- 56,904,762(-) TGACT(C/T)ACAAA intron-variant
rs594105 -- 56,877,583(-) ATTCA(A/C)GTTAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C8A Gene

Variant ID Type Subtype PubMed ID
nsv508215 CNV Loss 20534489

Relevant External Links for C8A Gene

HapMap Linkage Disequilibrium report
C8A
Human Gene Mutation Database (HGMD)
C8A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C8A Gene

Disorders for C8A Gene

(1) OMIM Diseases for C8A Gene (120950)

UniProtKB/Swiss-Prot

CO8A_HUMAN
  • Complement component 8 deficiency, 1 (C8D1) [MIM:613790]: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for C8A

Genetic Association Database (GAD)
C8A
Human Genome Epidemiology (HuGE) Navigator
C8A
genes like me logo Genes that share disorders with C8A: view

Publications for C8A Gene

  1. Complementary DNA and derived amino acid sequence of the alpha subunit of human complement protein C8: evidence for the existence of a separate alpha subunit messenger RNA. (PMID: 2820471) Rao A.G. … Sodetz J.M. (Biochemistry 1987) 3 4
  2. The eighth component of human complement: molecular basis of C8A (C81) polymorphism. (PMID: 7649542) Zhang L. … Kaufmann T. (Hum. Genet. 1995) 3 4
  3. Genomic organization of human complement protein C8 alpha and further examination of its linkage to C8 beta. (PMID: 7759071) Michelotti G.A. … Sodetz J.M. (Hum. Genet. 1995) 3 4
  4. The four terminal components of the complement system are C- mannosylated on multiple tryptophan residues. (PMID: 10551839) Hofsteenge J. … Miroshnichenko O. (J. Biol. Chem. 1999) 3 4
  5. The eighth component of human complement. Purification and physicochemical characterization of its unusual subunit structure. (PMID: 7440581) Steckel E.W. … Sodetz J.M. (J. Biol. Chem. 1980) 3 4

Products for C8A Gene

Sources for C8A Gene

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