C7 - complement C7 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 730

About C7

Cytogenetic location: 5p13.1 Genomic coordinates (GRCh38): 5:40,909,497-40,984,643 (from NCBI)

This gene has 9 transcripts (splice variants), 249 orthologues, 39 paralogues and is associated with 2 phenotypes. Broad expression in adrenal (RPKM 552.9), gall bladder (RPKM 224.3) and 14 other tissues.

Summary

This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and Bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]

C7 Products (1)

mRNA Protein Name
NM_000587.4 NP_000578.2 complement component C7 precursor
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

C7 Protein Structure

TSP_1

TSP_1: Thrombospondin type 1 domain (34 - 79)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (85 - 119)

MACPF

MACPF: MAC/Perforin domain (229 - 448)

TSP_1

TSP_1: Thrombospondin type 1 domain (503 - 548)

Sushi

Sushi: Sushi repeat (SCR repeat) (571 - 619)

Sushi

Sushi: Sushi repeat (SCR repeat) (637 - 683)

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  • 843 a.a.
Protein Preferred Names Protein Names

complement component C7

  • complement component 7

Recombinant C7 Proteins

Cat. No. Product Name Accession Purity
HY-P74371 C7/Complement component C7 Protein, Human (HEK293, His, solution) P10643 (S23-Q843) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P74372 C7/Complement component C7 Protein, Human (HEK293, Fc) P10643 (S23-Q843) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Complement Component 7 Deficiency
  • C7 Deficiency

  • C7D

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

Pyoderma
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
Mus musculus C7 MGD MGI:88235
Felis catus C7 VGNC VGNC:60234
Macaca mulatta C7 VGNC VGNC:70478
Rattus norvegicus C7 RGD RGD:620318
Canis familiaris C7 VGNC VGNC:38599
Bos taurus C7 VGNC VGNC:26643
Others C7 NCBI