C8A - complement C8 alpha chain Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 731

About C8A

Cytogenetic location: 1p32.2 Genomic coordinates (GRCh38): 1:56,854,797-56,918,223 (from NCBI)

This gene has 15 transcripts (splice variants), 188 orthologues, 39 paralogues and is associated with 2 phenotypes. Restricted expression toward liver (RPKM 74.5).

Summary

C8 is a component of the Complement System and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 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 complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008]

C8A Products (1)

mRNA Protein Name
NM_000562.3 NP_000553.1 complement component C8 alpha chain preproprotein

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within complement activation IDA
IDA: Inferred from direct assay
12413696 GOA
Cellular Component GO Annotation Evidence References Source
part of membrane attack complex IDA
IDA: Inferred from direct assay
12413696 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

C8A Protein Structure

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (95 - 130)

MACPF

MACPF: MAC/Perforin domain (268 - 490)

TSP_1

TSP_1: Thrombospondin type 1 domain (541 - 584)

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

complement component C8 alpha chain

  • complement component 8 alpha subunit

C8A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
C8A P07357 GPR152 Homo sapiens Q8TDT2
Y2H Array
32296183
Intra
C8A P07357 GPR152 Homo sapiens Q8TDT2
Validated Y2H
32296183
Intra
C8A P07357 GPR152 Homo sapiens Q8TDT2
Y2H Prey Pooling
32296183
Intra
C8A P07357 GOLT1A Homo sapiens Q6ZVE7
Y2H Array
32296183
Intra
C8A P07357 GOLT1A Homo sapiens Q6ZVE7
Y2H Prey Pooling
32296183
Intra
C8A P07357 GOLT1A Homo sapiens Q6ZVE7
Validated Y2H
32296183
Intra
C8A P07357 SLC10A1 Homo sapiens Q14973
Validated Y2H
32296183
Intra
C8A P07357 SLC10A1 Homo sapiens Q14973
Y2H Array
32296183
Intra
C8A P07357 SLC10A1 Homo sapiens Q14973
Y2H Prey Pooling
32296183
Intra
C8A P07357 SLC7A1 Homo sapiens P30825
Y2H Prey Pooling
32296183
Intra
C8A P07357 SLC7A1 Homo sapiens P30825
Validated Y2H
32296183
Intra
C8A P07357 SLC7A1 Homo sapiens P30825
Y2H Array
32296183
Intra
C8A P07357 MMGT1 Homo sapiens Q8N4V1
Y2H Array
32296183
Intra
C8A P07357 MMGT1 Homo sapiens Q8N4V1
Validated Y2H
32296183
Intra
C8A P07357 MMGT1 Homo sapiens Q8N4V1
Y2H Prey Pooling
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Complement Component 8 Deficiency, Type I

  • C8 Alpha-Gamma Deficiency

  • Type I Complement Component 8 Deficiency

  • C8D1

  • C8 Deficiency Type I

  • Complement Component 8 Deficiency Type I

  • C8 Deficiency, Type I

  • C8ag Deficiency

  • Complement Component 8 Deficiency Type 1

  • C81 Deficiency

  • Complement Component 8 Deficiency, 1

  • Complement Component 8 Deficiency, Type 1
Immunodeficiency Due To A Late Component Of Complement Deficiency

  • Immunodeficiency Due To C5 To C9 Component Complement Deficiency

  • Terminal Complement Pathway Deficiency
Complement Component 8 Deficiency

  • C8 Deficiency
Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness

  • Bsnd

  • Sensorineural Deafness With Mild Renal Dysfunction

  • Bartter Disease Type 4a

  • BARTS4A

  • Bartter Syndrome, Type 4a

  • Bartter Syndrome Type 4

  • Bartter Syndrome, Neonatal, With Sensorineural Deafness

  • Bartter Syndrome With Sensorineural Deafness

  • Bartter Syndrome Type 4a

  • Neonatal Bartter Syndrome With Sensorineural Deafness

  • Bartter Syndrome Type Iv

  • Bartter Syndrome With Sensorineural Hearing Loss

  • Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness

  • Hyperprostanglandin E Syndrome 4

  • Hypokalemic Alkalosis With Hypercalciuria Antenatal 4

  • Infantile Bartter Syndrome With Sensorineural Deafness
Hemolytic Uremic Syndrome, Atypical 1

  • Atypical Hemolytic-Uremic Syndrome

  • Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1

  • Atypical Hemolytic Uremic Syndrome

  • Hemolytic Uremic Syndrome, Atypical, Susceptibility To

  • Ahus

  • AHUS1

  • Hemolytic-Uremic Syndrome

  • Ahus 1

  • Ahus, Susceptibility To, 1

  • Hemolytic Uremic Syndrome, Atypical

  • Non-Shiga-Like Toxin-Associated Hus

  • Non-Stx-Hus

  • Nonenteropathic Hus

  • Atypical Hus

  • Shiga Toxin-Associated Hemolytic Uremic Syndrome

  • D+ Hus

  • Ehec-Hus

  • Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli

  • Hemolytic Uremic Syndrome With Diarrhea

  • Stec-Hus

  • Shiga-Like Toxin-Associated Hus

  • Stx-Hus

  • Typical Hus

  • Typical Hemolytic Uremic Syndrome

  • Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies

  • Atypical Hus With Anti-Factor H Antibodies

  • Ahus With Anti-Factor H Antibodies

  • Ahus With Neutralizing Autoantibodies Against Factor H

  • Hemolytic Uremic Syndrome Atypical 1

  • Atypical Hemolytic Uremic Syndrome With H Factor Anomaly

  • D Hus

  • Hemolytic-Uremic Syndrome Without Diarrhea

  • Hemolytic-Uremic Syndrome, Atypical, Type 1

  • Hemolytic Uremic Syndrome, Typical
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01755 C8A Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS17136 C8a Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS23582 C8a Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus C8A VGNC VGNC:26644
Macaca mulatta C8A VGNC VGNC:70479
Mus musculus C8A MGD MGI:2668347
Felis catus C8A VGNC VGNC:60235
Canis familiaris C8A VGNC VGNC:38600
Rattus norvegicus C8A RGD RGD:1308355
Others C8A NCBI