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

Summary

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Official Symbol: C4BPAprovided by HGNC
Official Full Name: complement component 4 binding protein, alphaprovided by HGNC
Primary source: HGNC:1325
Locus tag: RP11-164O23.4
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]

Genomic context

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Location :: 1q32

Sequence :: Chromosome: 1; NC_000001.10 (207277607..207318317)

See C4BPA in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

C4BP alpha7beta0 isoform complement control protein-6 domain of C4BP alpha-chain is necessary for tolerogenic activity of the acute-phase C4BPbeta chain.
Title: The α7β0 isoform of the complement regulator C4b-binding protein induces a semimature, anti-inflammatory state in dendritic cells.
The Lsa30 (LIC110870) is a novel adhesin that binds plasminogen and the complement regulator C4bp.
Title: Lsa30, a novel adhesin of Leptospira interrogans binds human plasminogen and the complement regulator C4bp.
Human pneumococcal glycolytic enzyme enolase, a nonclassical cell surface and plasminogen-binding protein, is a pneumococcal C4BP-binding protein.
Title: Enolase of Streptococcus pneumoniae binds human complement inhibitor C4b-binding protein and contributes to complement evasion.
NC4 Domain of cartilage-specific collagen IX inhibits complement directly due to attenuation of membrane attack formation and indirectly through binding and enhancing activity of complement inhibitors C4B-binding protein and factor H.
Title: NC4 Domain of cartilage-specific collagen IX inhibits complement directly due to attenuation of membrane attack formation and indirectly through binding and enhancing activity of complement inhibitors C4B-binding protein and factor H.
C4BP is recruited to the S. aureus surface where it functions to inhibit C4 complement effectors, suggesting a previously undescribed immune evasion strategy for this pathogen.
Title: Complement regulator C4BP binds to Staphylococcus aureus and decreases opsonization.
Human pentraxin 3 binds to the complement regulator c4b-binding protein.
Title: Human pentraxin 3 binds to the complement regulator c4b-binding protein.
Serum C4BP level in 89 patients showed a strong association with the clinical staging of non small cell lung carcinoma.
Title: A high-quality secretome of A549 cells aided the discovery of C4b-binding protein as a novel serum biomarker for non-small cell lung cancer.
Show that B. recurrentis spirochetes express another potential outer membrane lipoprotein, termed CihC, and acquire C4b-binding protein (C4bp) and human C1 esterase inhibitor (C1-Inh).
Title: Human complement regulators C4b-binding protein and C1 esterase inhibitor interact with a novel outer surface protein of Borrelia recurrentis.
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.
Title: 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.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.

Submit: New GeneRIF Correction See all (28)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

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.

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P04003	P02743	APCS	HPRD	PubMed
P04003	Q13873	BMPR2	HPRD	PubMed
P04003	Complement component 4B, telomeric	C4B	HPRD	PubMed
P04003	Q07954	LRP1	HPRD	PubMed
P04003	P07225	PROS1	HPRD	PubMed
P04003	Complement component 4B		HPRD	PubMed
BioGRID:107183	BioGRID:106822	APCS	BioGRID	PubMed	Affinity Capture-Western; Co-purification
BioGRID:107183	BioGRID:119799	FXYD6	BioGRID	PubMed	Two-hybrid
BioGRID:107183	BioGRID:115154	GIT2	BioGRID	PubMed	Two-hybrid
BioGRID:107183	BioGRID:109224	GTF2I	BioGRID	PubMed	Two-hybrid
BioGRID:107183	BioGRID:110121	LBP	BioGRID	PubMed	Two-hybrid
BioGRID:107183	BioGRID:111611	PROS1	BioGRID	PubMed	Protein-peptide; Reconstituted Complex
BioGRID:107183	BioGRID:112486	SMARCD1	BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

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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 biosystemThe complement system is a biochemical cascade, so named because it 'complements' the ability of antibodies to clear pathogens. It is part of the innate immune system. Complement system proteins circ...
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...

General gene information

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Markers

SHGC-76272 (e-PCR)
- UniSTS:302

SHGC-35696 (e-PCR)
- UniSTS:58186

SHGC-132542 (e-PCR)
- UniSTS:173942

D1S3036 (e-PCR)
- UniSTS:71055

AL034030 (e-PCR)
- UniSTS:93664

Homology

Homologs of the C4BPA gene: The C4BPA gene is conserved in chimpanzee, Rhesus monkey, dog, cow, and rat.
Map Viewer (Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
complement activation, classical pathway	IEA Inferred from Electronic Annotation more info
innate immune response	TAS Traceable Author Statement more info
regulation of complement activation	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info
extracellular region	NAS Non-traceable Author Statement more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: C4b-binding protein alpha chain

Names: C4b-binding protein alpha chain; proline-rich protein

NCBI Reference Sequences (RefSeq)

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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

NG_029579.1 RefSeqGene

Range

5001..45711

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

BC022312, BQ019292

Consensus CDS

CCDS1477.1

UniProtKB/Swiss-Prot

P04003

UniProtKB/TrEMBL

Q5VVQ8

Related

ENSP00000356037, OTTHUMP00000034376, ENST00000367070, OTTHUMT00000088089

Conserved Domains (2) summary

cd00033
Location:175 – 235
Blast Score: 149

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:298 – 538
Blast Score: 267

PHA02927; secreted complement-binding protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p10 Primary Assembly

Range

207277607..207318317

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

177975014..178014972

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018912.1 Alternate CHM1_1.0

Range

214082597..214123344

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01048247.1 (291838..331796)	None
genomic	AL445493.8 (63732..104442)	None
genomic	AMYH01001680.1 (197155..237902)	None
genomic	CH471100.2	EAW93500.1
		EAW93501.1
		EAW93502.1
		EAW93503.1
genomic	M62448.1	None
genomic	M62486.1	AAA36506.1
genomic	X04284.1	CAB51244.1
genomic	X04296.1	CAA27839.1
mRNA	AK303793.1	BAG64750.1
mRNA	AK303798.1	BAG64753.1
mRNA	AK313164.1	BAG35982.1
mRNA	BC022312.1	AAH22312.1
mRNA	BQ019292.1	None
mRNA	M31452.1	AAA36507.1
mRNA	X02865.1	CAA26617.1
mRNA	X07853.1	CAA30701.1
other-genetic	DQ892021.2	ABM82947.1
other-genetic	DQ895213.2	ABM86139.1