C6 - complement C6 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 729

About C6

Cytogenetic location: 5p13.1 Genomic coordinates (GRCh38): 5:41,142,116-41,261,469 (from NCBI)

This gene has 9 transcripts (splice variants), 206 orthologues, 39 paralogues and is associated with 2 phenotypes. Biased expression in liver (RPKM 126.4), heart (RPKM 11.8) and 2 other tissues.

Summary

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]

C6 Products (2)

mRNA Protein Name
NM_000065.5 NP_000056.2 complement component C6 precursor
NM_001115131.4 NP_001108603.2 complement component C6 precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
17474147 GOA
Biological Process GO Annotation Evidence References Source
involved in complement activation IDA
IDA: Inferred from direct assay
2808363 GOA
Cellular Component GO Annotation Evidence References Source
part of membrane attack complex IDA
IDA: Inferred from direct assay
22832194 GOA
part of membrane attack complex IPI
IPI: Inferred from physical interaction
30552328 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

C6 Protein Structure

TSP_1

TSP_1: Thrombospondin type 1 domain (28 - 78)

TSP_1

TSP_1: Thrombospondin type 1 domain (86 - 133)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (140 - 173)

MACPF

MACPF: MAC/Perforin domain (293 - 514)

TSP_1

TSP_1: Thrombospondin type 1 domain (571 - 612)

Sushi

Sushi: Sushi repeat (SCR repeat) (644 - 695)

Sushi

Sushi: Sushi repeat (SCR repeat) (713 - 754)

Kazal_2

Kazal_2: Kazal-type serine protease inhibitor domain (793 - 837)

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  • 934 a.a.
Protein Preferred Names Protein Names

complement component C6

  • complement component 6

C6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
C6 P13671 NCK1 Homo sapiens P16333 17474147
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant C6 Proteins

Cat. No. Product Name Accession Purity
HY-P74373 C6/Complement component C6 Protein, Human (HEK293, His) AAA59668 (C22-A934) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Complement Component 6 Deficiency
  • C6 Deficiency

  • C6D

  • C6 Deficiency Subtotal

  • Complement Component 6 Deficiency Subtotal

  • C6 Deficiency, Subtotal

Immunodeficiency Due To A Late Component Of Complement Deficiency
  • Immunodeficiency Due To C5 To C9 Component Complement Deficiency

  • Terminal Complement Pathway Deficiency

Meningococcal Meningitis
  • Meningitis, Meningococcal

  • Meningitis Meningococcal

  • Epidemic Meningitis

  • Meningitis Due To Neisseria Meningitidis

  • Meningococcal Meninges Infection

  • Meningococcal Meningeal Infection

  • Meningococcal Cerebrospinal Inflammation

  • Chronic Meningococcal Arachnoiditis

  • Meningococcal Arachnoiditis

  • Diplococcal Spinal Meningitis

  • Diplococcal Meningitis

  • Meningococcal Cerebrospinal Fever

  • Meningococcal Cerebrospinal Infection

  • Meningococcal Spinal Meningitis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus C6 VGNC VGNC:52722
Felis catus C6 VGNC VGNC:60233
Rattus norvegicus C6 RGD RGD:2238
Canis familiaris C6 VGNC VGNC:38598
Macaca mulatta C6 VGNC VGNC:70477
Mus musculus C6 MGD MGI:88233
Others C6 NCBI