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C4BPB complement component 4 binding protein beta [ Homo sapiens (human) ]

Gene ID: 725, updated on 7-Jun-2020

Summary

Official Symbol
C4BPBprovided by HGNC
Official Full Name
complement component 4 binding protein betaprovided by HGNC
Primary source
HGNC:HGNC:1328
See related
Ensembl:ENSG00000123843 MIM:120831
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C4BP
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]
Expression
Biased expression in liver (RPKM 52.4) and ovary (RPKM 16.6) See more
Orthologs

Genomic context

See C4BPB in Genome Data Viewer
Location:
1q32.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (207088795..207099993)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (207262210..207273338)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene YOD1 deubiquitinase Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 Neighboring gene complement component 4 binding protein alpha Neighboring gene uncharacterized LOC107985251 Neighboring gene C4BPA pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
PubMed 
complement activation, classical pathway IEA
Inferred from Electronic Annotation
more info
 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
negative regulation of complement activation, classical pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of complement activation TAS
Traceable Author Statement
more info
 
regulation of opsonization IDA
Inferred from Direct Assay
more info
PubMed 
response to symbiotic bacterium IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
extracellular region NAS
Non-traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
C4b-binding protein beta chain

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029386.1 RefSeqGene

    Range
    4994..16127
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000716.3NP_000707.1  C4b-binding protein beta chain isoform 1 precursor

    See identical proteins and their annotated locations for NP_000707.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as A19, represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC005378, BM987840, L11245
    Consensus CDS
    CCDS1476.1
    UniProtKB/Swiss-Prot
    P20851
    Related
    ENSP00000243611.5, ENST00000243611.9
    Conserved Domains (1) summary
    cd00033
    Location:81135
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
  2. NM_001017364.1NP_001017364.1  C4b-binding protein beta chain isoform 2 precursor

    See identical proteins and their annotated locations for NP_001017364.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate, in-frame splice site in the 5' coding region, compared to variant 1. Variants 2 and 4 encode isoform 2, which has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    BC005378, BM987840
    Consensus CDS
    CCDS31005.1
    UniProtKB/Swiss-Prot
    P20851
    Related
    ENSP00000356043.3, ENST00000367076.7
    Conserved Domains (1) summary
    cl27761
    Location:46207
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
  3. NM_001017365.3NP_001017365.1  C4b-binding protein beta chain isoform 1 precursor

    See identical proteins and their annotated locations for NP_001017365.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), also known as A12, differs in the 5' UTR compared to variant 1. Variants 1, 3 and 5 encode the same isoform (1).
    Source sequence(s)
    BG568018, BM987840, L11244
    Consensus CDS
    CCDS1476.1
    UniProtKB/Swiss-Prot
    P20851
    Related
    ENSP00000356045.3, ENST00000367078.8
    Conserved Domains (1) summary
    cd00033
    Location:81135
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
  4. NM_001017366.3NP_001017366.1  C4b-binding protein beta chain isoform 2 precursor

    See identical proteins and their annotated locations for NP_001017366.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate, in-frame splice site in the 5' coding region compared to variant 1. Variants 2 and 4 encode isoform 2, which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    BG568018, BM987840, L11244
    Consensus CDS
    CCDS31005.1
    UniProtKB/Swiss-Prot
    P20851
    Conserved Domains (1) summary
    cl27761
    Location:46207
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
  5. NM_001017367.1NP_001017367.1  C4b-binding protein beta chain isoform 1 precursor

    See identical proteins and their annotated locations for NP_001017367.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1, 3 and 5 encode the same isoform (1).
    Source sequence(s)
    BM987840, H63461, L11245
    Consensus CDS
    CCDS1476.1
    UniProtKB/Swiss-Prot
    P20851
    Related
    ENSP00000375790.1, ENST00000391923.1
    Conserved Domains (1) summary
    cd00033
    Location:81135
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    207088795..207099993
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273254.5XP_005273311.1  C4b-binding protein beta chain isoform X1

    See identical proteins and their annotated locations for XP_005273311.1

    UniProtKB/Swiss-Prot
    P20851
    Conserved Domains (1) summary
    cd00033
    Location:81135
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
  2. XM_024449464.1XP_024305232.1  C4b-binding protein beta chain isoform X2

    Conserved Domains (1) summary
    cl27761
    Location:46207
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
  3. XM_005273255.2XP_005273312.1  C4b-binding protein beta chain isoform X3

    Conserved Domains (1) summary
    cd00033
    Location:80134
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
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