Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1356
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol CP   Gene   UCSC   Ensembl
Aliases CP-2
Gene name ceruloplasmin
Alternate names ceruloplasmin, ceruloplasmin (ferroxidase),
Gene location 3q24-q25.1 (149222049: 149162409)     Exons: 22     NC_000003.12
Gene summary(Entrez) The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]
OMIM 117700

Protein Summary
Protein general information P00450  

Name: Ceruloplasmin (EC 1.16.3.1) (Ferroxidase)

Length: 1065  Mass: 122,205

Tissue specificity: Expressed by the liver and secreted in plasma.

Sequence MKILILGIFLFLCSTPAWAKEKHYYIGIIETTWDYASDHGEKKLISVDTEHSNIYLQNGPDRIGRLYKKALYLQY
TDETFRTTIEKPVWLGFLGPIIKAETGDKVYVHLKNLASRPYTFHSHGITYYKEHEGAIYPDNTTDFQRADDKVY
PGEQYTYMLLATEEQSPGEGDGNCVTRIYHSHIDAPKDIASGLIGPLIICKKDSLDKEKEKHIDREFVVMFSVVD
ENFSWYLEDNIKTYCSEPEKVDKDNEDFQESNRMYSVNGYTFGSLPGLSMCAEDRVKWYLFGMGNEVDVHAAFFH
GQALTNKNYRIDTINLFPATLFDAYMVAQNPGEWMLSCQNLNHLKAGLQAFFQVQECNKSSSKDNIRGKHVRHYY
IAAEEIIWNYAPSGIDIFTKENLTAPGSDSAVFFEQGTTRIGGSYKKLVYREYTDASFTNRKERGPEEEHLGILG
PVIWAEVGDTIRVTFHNKGAYPLSIEPIGVRFNKNNEGTYYSPNYNPQSRSVPPSASHVAPTETFTYEWTVPKEV
GPTNADPVCLAKMYYSAVDPTKDIFTGLIGPMKICKKGSLHANGRQKDVDKEFYLFPTVFDENESLLLEDNIRMF
TTAPDQVDKEDEDFQESNKMHSMNGFMYGNQPGLTMCKGDSVVWYLFSAGNEADVHGIYFSGNTYLWRGERRDTA
NLFPQTSLTLHMWPDTEGTFNVECLTTDHYTGGMKQKYTVNQCRRQSEDSTFYLGERTYYIAAVEVEWDYSPQRE
WEKELHHLQEQNVSNAFLDKGEFYIGSKYKKVVYRQYTDSTFRVPVERKAEEEHLGILGPQLHADVGDKVKIIFK
NMATRPYSIHAHGVQTESSTVTPTLPGETLTYVWKIPERSGAGTEDSACIPWAYYSTVDQVKDLYSGLIGPLIVC
RRPYLKVFNPRRKLEFALLFLVFDENESWYLDDNIKTYSDHPEKVNKDDEEFIESNKMHAINGRMFGNLQGLTMH
VGDEVNWYLMGMGNEIDLHTVHFHGHSFQYKHRGVYSSDVFDIFPGTYQTLEMFPRTPGIWLLHCHVTDHIHAGM
ETTYTVLQNEDTKSG
Structural information
Protein Domains
 F5/8 (20-357)
Plastocyanin-like (20-200)
Plastocyanin-like (209-357)
F5/8 (370-718)
Plastocyanin-like (370-560)
Plastocyanin-like (570-718)
F5/8 (730-1061)
(730-900)
Interpro:  IPR027150 IPR001117 IPR011706 IPR011707 IPR033138 IPR002355 IPR008972
Prosite:   PS00079 PS00080

Pfam:  		 PF00394 PF07731 PF07732

PDB:  		 1KCW 2J5W 4EJX 4ENZ
PDBsum:   1KCW 2J5W 4EJX 4ENZ
STRING:   ENSP00000264613;
Other Databases GeneCards:  CP;  Malacards:  CP

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001889 liver development
 IEA biological_process
GO:0004322 ferroxidase activity
 TAS molecular_function
GO:0005507 copper ion binding
 IEA molecular_function
GO:0005576 extracellular region
 NAS 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:0005765 lysosomal membrane
 IDA cellular_component
GO:0006825 copper ion transport
 IEA biological_process
GO:0006879 cellular iron ion homeost
asis
 TAS biological_process
GO:0007568 aging
 IEA biological_process
GO:0007584 response to nutrient
 IEA biological_process
GO:0030324 lung development
 IEA biological_process
GO:0046658 anchored component of pla
sma membrane
 IEA cellular_component
GO:0046688 response to copper ion
 IEA biological_process
GO:0051087 chaperone binding
 IPI molecular_function
GO:0055114 oxidation-reduction proce
ss
 IEA 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:0001889 liver development
 IEA biological_process
GO:0004322 ferroxidase activity
 IEA molecular_function
GO:0004322 ferroxidase activity
 IEA molecular_function
GO:0004322 ferroxidase activity
 TAS molecular_function
GO:0004322 ferroxidase activity
 TAS molecular_function
GO:0005507 copper ion binding
 IEA molecular_function
GO:0005507 copper ion binding
 IEA 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:0005615 extracellular space
 IEA cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005615 extracellular space
 TAS cellular_component
GO:0005765 lysosomal membrane
 IDA cellular_component
GO:0006810 transport
 IEA biological_process
GO:0006811 ion transport
 IEA biological_process
GO:0006825 copper ion transport
 IEA biological_process
GO:0006825 copper ion transport
 IEA biological_process
GO:0006879 cellular iron ion homeost
asis
 IEA biological_process
GO:0006879 cellular iron ion homeost
asis
 TAS biological_process
GO:0006879 cellular iron ion homeost
asis
 TAS biological_process
GO:0007568 aging
 IEA biological_process
GO:0007584 response to nutrient
 IEA biological_process
GO:0016491 oxidoreductase activity
 IEA molecular_function
GO:0016491 oxidoreductase activity
 IEA molecular_function
GO:0030324 lung development
 IEA biological_process
GO:0046658 anchored component of pla
sma membrane
 IEA cellular_component
GO:0046688 response to copper ion
 IEA biological_process
GO:0046872 metal ion binding
 IEA molecular_function
GO:0051087 chaperone binding
 IPI molecular_function
GO:0055114 oxidation-reduction proce
ss
 IEA biological_process
GO:0055114 oxidation-reduction proce
ss
 IEA 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:0004322 ferroxidase activity
 TAS molecular_function
GO:0004322 ferroxidase activity
 TAS molecular_function
GO:0005576 extracellular region
 NAS 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:0005615 extracellular space
 TAS cellular_component
GO:0005765 lysosomal membrane
 IDA cellular_component
GO:0006879 cellular iron ion homeost
asis
 TAS biological_process
GO:0006879 cellular iron ion homeost
asis
 TAS biological_process
GO:0051087 chaperone binding
 IPI molecular_function
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

KEGG pathways

hsa04216  Ferroptosis
hsa00860  Porphyrin and chlorophyll metabolism

Diseases

Associated diseases References
Alzheimer's disease PMID: 15648851
Amyotrophic lateral sclerosis (ALS) PMID: 18608101
Ataxia OMIM: 117700
Diabetes PMID: 12879954
Endometriosis PMID: 26255447
Hemosiderosis OMIM: 117700
Hypoceruloplasminemia OMIM: 117700
Ovarian hyperstimulation syndrome (OHSS) PMID: 21697218
Parkinson's disease PMID: 15557511
Endometriosis INFBASE26255447

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26255447 Endometrio
sis
229 (119 women
(study groups),
110 patients s
uffered from si
mple serous or
dermoid ovarian
cysts (referen
ce groups))
Show abstract