C9 - complement C9 Gene

Also Known as C9D; ARMD15

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 735

About C9

Cytogenetic location: 5p13.1 Genomic coordinates (GRCh38): 5:39,284,140-39,364,495 (from NCBI)

This gene has 7 transcripts (splice variants), 190 orthologues, 39 paralogues and is associated with 4 phenotypes. Restricted expression toward liver (RPKM 365.0).

Summary

This gene encodes the final component of the Complement System. It 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 component C9 deficiency. [provided by RefSeq, Feb 2009]

C9 Products (1)

mRNA Protein Name
NM_001737.5 NP_001728.1 complement component C9 preproprotein
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in cell killing IDA
IDA: Inferred from direct assay
26841934 GOA
involved in protein homooligomerization IDA
IDA: Inferred from direct assay
26841934 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in extracellular space IDA
IDA: Inferred from direct assay
22832194 GOA
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
located in plasma membrane IDA
IDA: Inferred from direct assay
26841934 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

C9 Protein Structure

TSP_1

TSP_1: Thrombospondin type 1 domain (46 - 94)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (100 - 134)

MACPF

MACPF: MAC/Perforin domain (272 - 501)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 559 a.a.
Protein Preferred Names Protein Names

complement component C9

  • complement component 9

C9 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
C9 P02748 APOE Homo sapiens P02649 33961781
Intra
C9 P02748 APOE Homo sapiens P02649 28514442
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Complement Component 9 Deficiency
  • C9 Deficiency

  • C9D

  • C9 Deficiency With Dermatomyositis

Macular Degeneration, Age-Related, 15
  • Age Related Macular Degeneration 15

  • ARMD15

  • Macular Degeneration, Age-Related, 15, Susceptibility To

  • Macular Degeneration, Age-Related, Type 15

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

Immunoglobulin Heavy-And-Light Chain
  • Ah/Al Amyloidosis

  • Ig Heavy-And-Light-Chain Amyloidosis

Eye Disease
  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy

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 C9 MGD MGI:1098282
Felis catus C9 VGNC VGNC:60238
Macaca mulatta C9 VGNC VGNC:70482
Rattus norvegicus C9 RGD RGD:620319
Bos taurus C9 VGNC VGNC:26647
Canis familiaris C9 VGNC VGNC:38603
Others C9 NCBI