Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 722
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol C4BPA   Gene   UCSC   Ensembl
Aliases C4BP, PRP
Gene name complement component 4 binding protein alpha
Alternate names C4b-binding protein alpha chain, proline-rich protein,
Gene location 1q32.2 (207104231: 207144971)     Exons: 12     NC_000001.11
Gene summary(Entrez) 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]
OMIM 120830

Protein Summary

Protein general information P04003  

Name: C4b-binding protein alpha chain (C4bp) (Proline-rich protein) (PRP)

Length: 597  Mass: 67,033

Tissue specificity: Chylomicrons in the plasma.

Sequence MHPPKTPSGALHRKRKMAAWPFSRLWKVSDPILFQMTLIAALLPAVLGNCGPPPTLSFAAPMDITLTETRFKTGT
TLKYTCLPGYVRSHSTQTLTCNSDGEWVYNTFCIYKRCRHPGELRNGQVEIKTDLSFGSQIEFSCSEGFFLIGST
TSRCEVQDRGVGWSHPLPQCEIVKCKPPPDIRNGRHSGEENFYAYGFSVTYSCDPRFSLLGHASISCTVENETIG
VWRPSPPTCEKITCRKPDVSHGEMVSGFGPIYNYKDTIVFKCQKGFVLRGSSVIHCDADSKWNPSPPACEPNSCI
NLPDIPHASWETYPRPTKEDVYVVGTVLRYRCHPGYKPTTDEPTTVICQKNLRWTPYQGCEALCCPEPKLNNGEI
TQHRKSRPANHCVYFYGDEISFSCHETSRFSAICQGDGTWSPRTPSCGDICNFPPKIAHGHYKQSSSYSFFKEEI
IYECDKGYILVGQAKLSCSYSHWSAPAPQCKALCRKPELVNGRLSVDKDQYVEPENVTIQCDSGYGVVGPQSITC
SGNRTWYPEVPKCEWETPEGCEQVLTGKRLMQCLPNPEDVKMALEVYKLSLEIEQLELQRDSARQSTLDKEL
Structural information
Protein Domains
Sushi (49-110)
Sushi (111-172)
Sushi (173-236)
Sushi (237-296)
Sushi (297-362)
Sushi (363-424)
Sushi (425-482)
Sushi (483-540)
Interpro:  IPR035976 IPR000436
Prosite:   PS50923

Pfam:  
PF00084
CDD:   cd00033

PDB:  
2A55 4B0F 5HYP 5HYT 5HYU 5HZP 5I0Q
PDBsum:   2A55 4B0F 5HYP 5HYT 5HYU 5HZP 5I0Q
STRING:   ENSP00000356037;
Other Databases GeneCards:  C4BPA;  Malacards:  C4BPA

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
NAS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006958 complement activation, cl
assical pathway
IEA biological_process
GO:0030449 regulation of complement
activation
TAS biological_process
GO:0044216 other organism cell
IDA cellular_component
GO:0044822 poly(A) RNA binding
IDA molecular_function
GO:0045087 innate immune response
IEA biological_process
GO:0045732 positive regulation of pr
otein catabolic process
IDA biological_process
GO:0045959 negative regulation of co
mplement activation, clas
sical pathway
IDA biological_process
GO:0072562 blood microparticle
IDA cellular_component
GO:1903027 regulation of opsonizatio
n
IC biological_process
GO:0002376 immune system process
IEA biological_process
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
NAS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006958 complement activation, cl
assical pathway
IEA biological_process
GO:0030449 regulation of complement
activation
TAS biological_process
GO:0044216 other organism cell
IDA cellular_component
GO:0044822 poly(A) RNA binding
IDA molecular_function
GO:0045087 innate immune response
IEA biological_process
GO:0045732 positive regulation of pr
otein catabolic process
IDA biological_process
GO:0045959 negative regulation of co
mplement activation, clas
sical pathway
IDA biological_process
GO:0072562 blood microparticle
IDA cellular_component
GO:1903027 regulation of opsonizatio
n
IC biological_process
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
NAS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0030449 regulation of complement
activation
TAS biological_process
GO:0044216 other organism cell
IDA cellular_component
GO:0044822 poly(A) RNA binding
IDA molecular_function
GO:0045732 positive regulation of pr
otein catabolic process
IDA biological_process
GO:0045959 negative regulation of co
mplement activation, clas
sical pathway
IDA biological_process
GO:0072562 blood microparticle
IDA cellular_component
GO:1903027 regulation of opsonizatio
n
IC biological_process

KEGG pathways

hsa05133  Pertussis
hsa04610  Complement and coagulation cascades

Diseases

Associated diseases References
Female infertility INFBASE12810542
Implantation defects INFBASE12810542
Endometriosis INFBASE12810542

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
12810542 Endometrio
sis


IL-15
proline-rich protein
B61
Dickkopf-1
glycodelin
N-acetylglucosamine-6-O-sulfotransferase
G0S2 protein
purine nucleoside phosphorylase
semaphorin E
neuronal olfactomedin-related endoplasmic reticulum localized protein mRNA
Sam68-like phospho
Show abstract