1. Gene
  2. C4BPB - complement component 4 binding protein beta Gene

C4BPB - complement component 4 binding protein beta Gene

Homo sapiens

Also known as C4BP

Gene ID: 725 | Gene type: protein coding

About C4BPB

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:207,088,860-207,099,993 (from NCBI)

This gene has 8 transcripts (splice variants), 76 orthologues and 39 paralogues. Biased expression in liver (RPKM 52.4) and ovary (RPKM 16.6).

Summary

This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 Amino acids. A single, unique beta-chain encoded by this gene assembles with seven identical alpha-chains into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. C4b-binding protein has a regulatory role in the coagulation system also, mediated through the beta-chain binding of protein S, a vitamin K-dependent protein that serves as a cofactor of activated protein C. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Alternative splicing gives rise to multiple transcript variants. [provided by RefSeq, Jul 2008]

C4BPB Products(5)

mRNA Protein Name
NM_000716.3 NP_000707.1 C4b-binding protein beta chain isoform 1 precursor
NM_001017364.1 NP_001017364.1 C4b-binding protein beta chain isoform 2 precursor
NM_001017365.3 NP_001017365.1 C4b-binding protein beta chain isoform 1 precursor
NM_001017366.3 NP_001017366.1 C4b-binding protein beta chain isoform 2 precursor
NM_001017367.1 NP_001017367.1 C4b-binding protein beta chain isoform 1 precursor

C4BPB Protein Structure

Sushi

Sushi: Sushi repeat (SCR repeat) (23 - 76)

Sushi

Sushi: Sushi repeat (SCR repeat) (81 - 134)

Sushi

Sushi: Sushi repeat (SCR repeat) (139 - 191)

  • 0
  • 100
  • 200
  • 252 a.a.
Protein Preferred Names Protein Names

C4b-binding protein beta chain

Related Diseases

Diseases Alias
Patellar Tendinitis

Patellar Tendonitis

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

Orthologs Information

Species Symbol Source ID
Canis familiaris C4BPB VGNC VGNC:38594
Macaca mulatta C4BPB VGNC VGNC:99859
Bos taurus C4BPB VGNC VGNC:26640
Felis catus C4BPB VGNC VGNC:107846
Rattus norvegicus C4BPB RGD RGD:2236