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C4BPA complement component 4 binding protein, alpha [ Homo sapiens (human) ]

Gene ID: 722, updated on 5-Apr-2015
Official Symbol
C4BPAprovided by HGNC
Official Full Name
complement component 4 binding protein, alphaprovided by HGNC
Primary source
HGNC:HGNC:1325
See related
Ensembl:ENSG00000123838; HPRD:00403; MIM:120830; Vega:OTTHUMG00000036173
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
PRP; 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. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. 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. Two pseudogenes of this gene are also found in the cluster. [provided by RefSeq, Jul 2008]
Orthologs
See C4BPA in MapViewer
Location:
1q32
Exon count:
12
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (207104238..207144972)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (207277583..207318317)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 Neighboring gene YOD1 deubiquitinase Neighboring gene complement component 4 binding protein, beta Neighboring gene complement component 4 binding protein, alpha pseudogene 1 Neighboring gene complement component 4 binding protein, alpha pseudogene 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
  • CD40/CD40L signaling, organism-specific biosystem (from Pathway Interaction Database)
    CD40/CD40L signaling, organism-specific biosystem
    CD40/CD40L signaling
  • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
    Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement and coagulation cascades, conserved biosystem (from KEGG)
    Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement cascade, organism-specific biosystem (from REACTOME)
    Complement cascade, organism-specific biosystemIn the complement cascade, a panel of soluble molecules rapidly and effectively senses a danger or damage and triggers reactions to provide a response that discriminates among foreign intruders, cell...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Pertussis, organism-specific biosystem (from KEGG)
    Pertussis, organism-specific biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
  • Pertussis, conserved biosystem (from KEGG)
    Pertussis, conserved biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
  • Regulation of Complement cascade, organism-specific biosystem (from REACTOME)
    Regulation of Complement cascade, organism-specific biosystemTwo inherent features of complement activation make its regulation very important: 1. There is an inherent positive feedback loop because the product of C3 activation forms part of an enzyme that cau...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
blood microparticle IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
other organism cell IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
C4b-binding protein alpha chain
Names
C4b-binding protein alpha chain
proline-rich protein

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_029579.1 RefSeqGene

    Range
    5001..45711
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000715.3NP_000706.1  C4b-binding protein alpha chain precursor

    See identical proteins and their annotated locations for NP_000706.1

    Status: REVIEWED

    Source sequence(s)
    BC022312, BQ019292
    Consensus CDS
    CCDS1477.1
    UniProtKB/Swiss-Prot
    P04003
    Related
    ENSP00000356037, OTTHUMP00000034376, ENST00000367070, OTTHUMT00000088089
    Conserved Domains (2) summary
    cd00033
    Location:175235
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    PHA02927
    Location:298538
    PHA02927; secreted complement-binding protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    207104238..207144972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273252.3XP_005273309.1  

    See identical proteins and their annotated locations for XP_005273309.1

    UniProtKB/Swiss-Prot
    P04003
    Conserved Domains (2) summary
    cd00033
    Location:175235
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    PHA02927
    Location:298538
    PHA02927; secreted complement-binding protein; Provisional
  2. XM_005273251.1XP_005273308.1  

    See identical proteins and their annotated locations for XP_005273308.1

    UniProtKB/Swiss-Prot
    P04003
    Conserved Domains (2) summary
    cd00033
    Location:175235
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    PHA02927
    Location:298538
    PHA02927; secreted complement-binding protein; Provisional

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    208550269..208591017
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)