Human Gene C6 (ENST00000263413.7) from GENCODE V44
Description: Homo sapiens complement C6 (C6), transcript variant 2, mRNA. (from RefSeq NM_001115131) RefSeq Summary (NM_001115131): This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]. Gencode Transcript: ENST00000263413.7 Gencode Gene: ENSG00000039537.16 Transcript (Including UTRs) Position: hg38 chr5:41,142,234-41,261,438 Size: 119,205 Total Exon Count: 18 Strand: - Coding Region Position: hg38 chr5:41,142,825-41,203,230 Size: 60,406 Coding Exon Count: 17
ID:CO6_HUMAN DESCRIPTION: RecName: Full=Complement component C6; Flags: Precursor; 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. SUBUNIT: Component of the membrane attack complex (MAC). MAC assembly is initiated by proteolytic cleavage of C5 into C5a and C5b. C5b binds sequentially C6, C7, C8 and 12-14 copies of the pore-forming subunit C9. INTERACTION: P16333:NCK1; NbExp=2; IntAct=EBI-1753221, EBI-389883; SUBCELLULAR LOCATION: Secreted. PTM: All cysteine residues are assumed to be cross-linked to one another. Individual modules containing an even number of conserved cysteine residues are supposed to have disulfide linkages only within the same module. POLYMORPHISM: The sequence shown is that of allotype C6 B. DISEASE: Defects in C6 are the cause of complement component 6 deficiency (C6D) [MIM:612446]. A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. SIMILARITY: Belongs to the complement C6/C7/C8/C9 family. SIMILARITY: Contains 1 EGF-like domain. SIMILARITY: Contains 2 Kazal-like domains. SIMILARITY: Contains 1 LDL-receptor class A domain. SIMILARITY: Contains 1 MACPF domain. SIMILARITY: Contains 2 Sushi (CCP/SCR) domains. SIMILARITY: Contains 3 TSP type-1 domains. WEB RESOURCE: Name=C6base; Note=C6 mutation db; URL="http://bioinf.uta.fi/C6base/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P13671
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
