Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 325
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol APCS   Gene   UCSC   Ensembl
Aliases HEL-S-92n, PTX2, SAP
Gene name amyloid P component, serum
Alternate names serum amyloid P-component, 9.5S alpha-1-glycoprotein, epididymis secretory sperm binding protein Li 92n, pentaxin-related, pentraxin-2, pentraxin-related,
Gene location 1q23.2 (159587825: 159588870)     Exons: 2     NC_000001.11
Gene summary(Entrez) The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [provided by RefSeq, Sep 2008]
OMIM 104770

Protein Summary
Protein general information P02743  

Name: Serum amyloid P-component (SAP) (9.5S alpha-1-glycoprotein) [Cleaved into: Serum amyloid P-component(1-203)]

Length: 223  Mass: 25,387

Tissue specificity: Found in serum and urine. {ECO

Sequence MNKPLLWISVLTSLLEAFAHTDLSGKVFVFPRESVTDHVNLITPLEKPLQNFTLCFRAYSDLSRAYSLFSYNTQG
RDNELLVYKERVGEYSLYIGRHKVTSKVIEKFPAPVHICVSWESSSGIAEFWINGTPLVKKGLRQGYFVEAQPKI
VLGQEQDSYGGKFDRSQSFVGEIGDLYMWDSVLPPENILSAYQGTPLPANILDWQALNYEIRGYVIIKPLVWV
Structural information
Protein Domains
 Pentraxin (24-223)
Interpro:  IPR013320 IPR030476 IPR001759
Prosite:   PS00289 PS51828

Pfam:  		 PF00354
CDD:   cd00152

PDB:  		 1GYK 1LGN 1SAC 2A3W 2A3X 2A3Y 2W08 3D5O 3KQR 4AVS 4AVT 4AVV 4AYU
PDBsum:   1GYK 1LGN 1SAC 2A3W 2A3X 2A3Y 2W08 3D5O 3KQR 4AVS 4AVT 4AVV 4AYU

DIP:  		 46911
MINT:  
STRING:   ENSP00000255040;
Other Databases GeneCards:  APCS;  Malacards:  APCS

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001849 complement component C1q
binding
 IDA molecular_function
GO:0002674 negative regulation of ac
ute inflammatory response
 IC biological_process
GO:0005509 calcium ion binding
 IDA molecular_function
GO:0005576 extracellular region
 NAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0006457 protein folding
 TAS biological_process
GO:0006953 acute-phase response
 TAS biological_process
GO:0030246 carbohydrate binding
 IEA molecular_function
GO:0044267 cellular protein metaboli
c process
 TAS biological_process
GO:0044869 negative regulation by ho
st of viral exo-alpha-sia
lidase activity
 IDA biological_process
GO:0044871 negative regulation by ho
st of viral glycoprotein
metabolic process
 IDA biological_process
GO:0045087 innate immune response
 IDA biological_process
GO:0045656 negative regulation of mo
nocyte differentiation
 IDA biological_process
GO:0046597 negative regulation of vi
ral entry into host cell
 IDA biological_process
GO:0046790 virion binding
 IDA molecular_function
GO:0048525 negative regulation of vi
ral process
 IDA biological_process
GO:0051082 unfolded protein binding
 TAS molecular_function
GO:0051131 chaperone-mediated protei
n complex assembly
 TAS biological_process
GO:0061045 negative regulation of wo
und healing
 IC biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0072562 blood microparticle
 IDA cellular_component
GO:1903016 negative regulation of ex
o-alpha-sialidase activit
y
 IDA biological_process
GO:1903019 negative regulation of gl
ycoprotein metabolic proc
ess
 IDA biological_process
GO:0031012 extracellular matrix
 IDA cellular_component
GO:0001849 complement component C1q
binding
 IDA molecular_function
GO:0002674 negative regulation of ac
ute inflammatory response
 IC biological_process
GO:0005509 calcium ion binding
 IDA molecular_function
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 NAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005615 extracellular space
 TAS cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0006457 protein folding
 TAS biological_process
GO:0006953 acute-phase response
 TAS biological_process
GO:0030246 carbohydrate binding
 IEA molecular_function
GO:0044267 cellular protein metaboli
c process
 TAS biological_process
GO:0044869 negative regulation by ho
st of viral exo-alpha-sia
lidase activity
 IDA biological_process
GO:0044871 negative regulation by ho
st of viral glycoprotein
metabolic process
 IDA biological_process
GO:0045087 innate immune response
 IDA biological_process
GO:0045656 negative regulation of mo
nocyte differentiation
 IDA biological_process
GO:0046597 negative regulation of vi
ral entry into host cell
 IDA biological_process
GO:0046790 virion binding
 IDA molecular_function
GO:0046872 metal ion binding
 IEA molecular_function
GO:0048525 negative regulation of vi
ral process
 IDA biological_process
GO:0051082 unfolded protein binding
 TAS molecular_function
GO:0051131 chaperone-mediated protei
n complex assembly
 TAS biological_process
GO:0061045 negative regulation of wo
und healing
 IC biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0072562 blood microparticle
 IDA cellular_component
GO:1903016 negative regulation of ex
o-alpha-sialidase activit
y
 IDA biological_process
GO:1903019 negative regulation of gl
ycoprotein metabolic proc
ess
 IDA biological_process
GO:0031012 extracellular matrix
 IDA cellular_component
GO:0001849 complement component C1q
binding
 IDA molecular_function
GO:0002674 negative regulation of ac
ute inflammatory response
 IC biological_process
GO:0005509 calcium ion binding
 IDA molecular_function
GO:0005576 extracellular region
 NAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005615 extracellular space
 TAS cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0006457 protein folding
 TAS biological_process
GO:0006953 acute-phase response
 TAS biological_process
GO:0044267 cellular protein metaboli
c process
 TAS biological_process
GO:0044869 negative regulation by ho
st of viral exo-alpha-sia
lidase activity
 IDA biological_process
GO:0044871 negative regulation by ho
st of viral glycoprotein
metabolic process
 IDA biological_process
GO:0045087 innate immune response
 IDA biological_process
GO:0045656 negative regulation of mo
nocyte differentiation
 IDA biological_process
GO:0046597 negative regulation of vi
ral entry into host cell
 IDA biological_process
GO:0046790 virion binding
 IDA molecular_function
GO:0048525 negative regulation of vi
ral process
 IDA biological_process
GO:0051082 unfolded protein binding
 TAS molecular_function
GO:0051131 chaperone-mediated protei
n complex assembly
 TAS biological_process
GO:0061045 negative regulation of wo
und healing
 IC biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0072562 blood microparticle
 IDA cellular_component
GO:1903016 negative regulation of ex
o-alpha-sialidase activit
y
 IDA biological_process
GO:1903019 negative regulation of gl
ycoprotein metabolic proc
ess
 IDA biological_process
GO:0031012 extracellular matrix
 IDA cellular_component

Diseases

Associated diseases References
Endometriosis associated infertility INFBASE19263878
Endometriosis INFBASE19263878
{?Amyloidosis, secondary, susceptibility to} OMIM104770

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
19263878 Endometrio
sis
52 (26 fertile
women, 26 infer
tile ones)
 Female infertility TF
C3serum amyloid P-component
alpha-1-antitrypsin and clusterin
 Show abstract