UniProt functional annotation for P07357



	UniProt functional annotation for P07357

UniProt code: P07357.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

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. {ECO:0000269|PubMed:17872444, ECO:0000269|PubMed:7440581}.

Subunit: 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 proteolytic cleavage of C5 into C5a and C5b. C5b sequentially binds C6, C7, C8 and multiple copies of the pore-forming subunit C9. {ECO:0000269|PubMed:17692377, ECO:0000269|PubMed:18440555, ECO:0000269|PubMed:7440581}.

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

Disease: 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 variants affecting the gene represented in this entry.

Similarity: Belongs to the complement C6/C7/C8/C9 family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



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. {ECO:0000269\|PubMed:17872444, ECO:0000269\|PubMed:7440581}.


Subunit:		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 proteolytic cleavage of C5 into C5a and C5b. C5b sequentially binds C6, C7, C8 and multiple copies of the pore-forming subunit C9. {ECO:0000269\|PubMed:17692377, ECO:0000269\|PubMed:18440555, ECO:0000269\|PubMed:7440581}.
Subcellular location:		Secreted. Cell membrane; Multi-pass membrane protein. Note=Secreted as soluble protein. Inserts into the cell membrane of target cells.
Disease:		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 variants affecting the gene represented in this entry.
Similarity:		Belongs to the complement C6/C7/C8/C9 family. {ECO:0000305}.