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Aliases for CP Gene

Aliases for CP Gene

  • Ceruloplasmin (Ferroxidase) 2 3 5
  • EC 1.16.3.1 4 63
  • Ferroxidase 4
  • CP-2 3

External Ids for CP Gene

Previous GeneCards Identifiers for CP Gene

  • GC03M145840
  • GC03M149776
  • GC03M150161
  • GC03M150212
  • GC03M150211
  • GC03M150374
  • GC03M148880
  • GC03M146261

Summaries for CP Gene

Entrez Gene Summary for CP Gene

  • 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]

GeneCards Summary for CP Gene

CP (Ceruloplasmin (Ferroxidase)) is a Protein Coding gene. Diseases associated with CP include cerebellar ataxia and aceruloplasminemia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and HIF-1-alpha transcription factor network. GO annotations related to this gene include oxidoreductase activity and copper ion binding. An important paralog of this gene is HEPHL1.

UniProtKB/Swiss-Prot for CP Gene

  • Ceruloplasmin is a blue, copper-binding (6-7 atoms per molecule) glycoprotein. It has ferroxidase activity oxidizing Fe(2+) to Fe(3+) without releasing radical oxygen species. It is involved in iron transport across the cell membrane. Provides Cu(2+) ions for the ascorbate-mediated deaminase degradation of the heparan sulfate chains of GPC1. May also play a role in fetal lung development or pulmonary antioxidant defense (By similarity).

Gene Wiki entry for CP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CP Gene

Genomics for CP Gene

Regulatory Elements for CP Gene

Promoters for CP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CP on UCSC Golden Path with GeneCards custom track

Genomic Location for CP Gene

Chromosome:
3
Start:
149,162,410 bp from pter
End:
149,222,055 bp from pter
Size:
59,646 bases
Orientation:
Minus strand

Genomic View for CP Gene

Genes around CP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CP Gene

Proteins for CP Gene

  • Protein details for CP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00450-CERU_HUMAN
    Recommended name:
    Ceruloplasmin
    Protein Accession:
    P00450
    Secondary Accessions:
    • Q14063
    • Q2PP18
    • Q9UKS4

    Protein attributes for CP Gene

    Size:
    1065 amino acids
    Molecular mass:
    122205 Da
    Cofactor:
    Name=Cu cation; Xref=ChEBI:CHEBI:23378;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CP Gene

neXtProt entry for CP Gene

Proteomics data for CP Gene at MOPED

Post-translational modifications for CP Gene

  • Glycosylation at Asn 138, Asn 358, Asn 397, Ser 492, Asn 588, Asn 762, and Asn 926
  • Modification sites at PhosphoSitePlus

Other Protein References for CP Gene

Antibody Products

Domains & Families for CP Gene

Suggested Antigen Peptide Sequences for CP Gene

Graphical View of Domain Structure for InterPro Entry

P00450

UniProtKB/Swiss-Prot:

CERU_HUMAN :
  • Contains 3 F5/8 type A domains.
  • Belongs to the multicopper oxidase family.
Domain:
  • Contains 3 F5/8 type A domains.
  • Contains 6 plastocyanin-like domains.
Family:
  • Belongs to the multicopper oxidase family.
genes like me logo Genes that share domains with CP: view

No data available for Gene Families for CP Gene

Function for CP Gene

Molecular function for CP Gene

GENATLAS Biochemistry:
ceruloplasmin (130kDa),alpha-2-glycoprotein,with retinal and glial cell specific expression,essential for iron homeostasis and neuronal survival
UniProtKB/Swiss-Prot CatalyticActivity:
4 Fe(2+) + 4 H(+) + O(2) = 4 Fe(3+) + 2 H(2)O.
UniProtKB/Swiss-Prot Function:
Ceruloplasmin is a blue, copper-binding (6-7 atoms per molecule) glycoprotein. It has ferroxidase activity oxidizing Fe(2+) to Fe(3+) without releasing radical oxygen species. It is involved in iron transport across the cell membrane. Provides Cu(2+) ions for the ascorbate-mediated deaminase degradation of the heparan sulfate chains of GPC1. May also play a role in fetal lung development or pulmonary antioxidant defense (By similarity).

Enzyme Numbers (IUBMB) for CP Gene

Gene Ontology (GO) - Molecular Function for CP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051087 chaperone binding IPI 19996109
genes like me logo Genes that share ontologies with CP: view
genes like me logo Genes that share phenotypes with CP: view

Human Phenotype Ontology for CP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CP Gene

MGI Knock Outs for CP:
  • Cp tm1Samd
  • Cp tm1Yos
  • Cp tm1Hrs
  • Cp tm1b(KOMP)Wtsi

Animal Model Products

miRNA for CP Gene

miRTarBase miRNAs that target CP

No data available for Transcription Factor Targets and HOMER Transcription for CP Gene

Localization for CP Gene

Subcellular locations from UniProtKB/Swiss-Prot for CP Gene

Secreted. Note=Colocalizes with GCP1 in secretory intracellular compartments. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CP Gene COMPARTMENTS Subcellular localization image for CP gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5
plasma membrane 3
cytosol 2
endoplasmic reticulum 2
golgi apparatus 2
mitochondrion 2
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046658 anchored component of plasma membrane IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with CP: view

Pathways & Interactions for CP Gene

genes like me logo Genes that share pathways with CP: view

SIGNOR curated interactions for CP Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006825 copper ion transport IEA --
GO:0007568 aging IEA --
GO:0030324 lung development IEA --
GO:0046688 response to copper ion IEA --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with CP: view

Drugs & Compounds for CP Gene

(51) Drugs for CP Gene - From: Novoseek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Drotrecogin alfa Approved, Investigational, Withdrawn Pharma Target 0
Copper Pharma 158

(60) Additional Compounds for CP Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Fe3+
  • Fe(III)
  • Ferric ion
  • Iron(3+)
7439-89-6
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with CP: view

Transcripts for CP Gene

Unigene Clusters for CP Gene

Ceruloplasmin (ferroxidase):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CP Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17a ·
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9: -
SP10:
SP11:
SP12:
SP13:
SP14:

ExUns: 17b ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c ^ 23a · 23b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10: - -
SP11:
SP12:
SP13:
SP14:

Relevant External Links for CP Gene

GeneLoc Exon Structure for
CP
ECgene alternative splicing isoforms for
CP

Expression for CP Gene

mRNA expression in normal human tissues for CP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CP Gene

This gene is overexpressed in Liver (x32.6).

Protein differential expression in normal tissues from HIPED for CP Gene

This gene is overexpressed in Serum (17.3), Synovial fluid (14.3), Plasma (11.2), and Vitreous humor (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CP Gene



SOURCE GeneReport for Unigene cluster for CP Gene Hs.558314

mRNA Expression by UniProt/SwissProt for CP Gene

P00450-CERU_HUMAN
Tissue specificity: Expressed by the liver and secreted in plasma.
genes like me logo Genes that share expression patterns with CP: view

Protein tissue co-expression partners for CP Gene

Primer Products

In Situ Assay Products

Orthologs for CP Gene

This gene was present in the common ancestor of chordates.

Orthologs for CP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC514194 35
  • 88.18 (n)
  • 86.32 (a)
CP 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CP 35
  • 87.33 (n)
  • 84.43 (a)
CP 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cp 35
  • 84.18 (n)
  • 83.65 (a)
Cp 16
Cp 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cp 35
  • 83.78 (n)
  • 83.02 (a)
oppossum
(Monodelphis domestica)
Mammalia CP 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 72 (a)
OneToMany
-- 36
  • 61 (a)
OneToMany
-- 36
  • 67 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia CP 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves CP 35
  • 67.02 (n)
  • 61.6 (a)
CP 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 61 (a)
OneToMany
-- 36
  • 70 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cp 35
  • 63.34 (n)
  • 57.74 (a)
zebrafish
(Danio rerio)
Actinopterygii cp 35
  • 59.58 (n)
  • 56.13 (a)
cp 36
  • 54 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8345 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToMany
Species with no ortholog for CP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CP Gene

ENSEMBL:
Gene Tree for CP (if available)
TreeFam:
Gene Tree for CP (if available)

Paralogs for CP Gene

Paralogs for CP Gene

(7) SIMAP similar genes for CP Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for CP Gene

genes like me logo Genes that share paralogs with CP: view

Variants for CP Gene

Sequence variations from dbSNP and Humsavar for CP Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_025655 -
rs35331711 - 149,199,783(-) TGAGC(C/T)GATTG nc-transcript-variant, reference, missense
rs701753 - 149,198,448(+) GTGGG(A/T)TCCAC nc-transcript-variant, reference, missense
VAR_025658 -
VAR_025659 -

Structural Variations from Database of Genomic Variants (DGV) for CP Gene

Variant ID Type Subtype PubMed ID
nsv4055 CNV Loss 18451855
esv273611 CNV Insertion 20981092
esv269498 CNV Insertion 20981092
nsv877639 CNV Gain 21882294
nsv528012 CNV Loss 19592680

Variation tolerance for CP Gene

Residual Variation Intolerance Score: 92.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.69; 66.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CP Gene

HapMap Linkage Disequilibrium report
CP
Human Gene Mutation Database (HGMD)
CP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CP Gene

Disorders for CP Gene

MalaCards: The human disease database

(42) MalaCards diseases for CP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cerebellar ataxia
  • hemosiderosis, systemic, due to aceruloplasminemia
aceruloplasminemia
  • ceruloplasmin deficiency
wilson disease
  • cerebral pseudosclerosis
hemosiderosis
  • haemosiderosis
chronic pyelonephritis
- elite association - COSMIC cancer census association via MalaCards
Search CP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CERU_HUMAN
  • Aceruloplasminemia (ACERULOP) [MIM:604290]: An autosomal recessive disorder of iron metabolism characterized by iron accumulation in the brain as well as visceral organs. Clinical features consist of the triad of retinal degeneration, diabetes mellitus and neurological disturbances. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Ceruloplasmin levels are decreased in Wilson disease, in which copper cannot be incorporated into ceruloplasmin in liver because of defects in the copper-transporting ATPase 2.

Genatlas disease for CP Gene

hypoceruloplasminemia severe with progressive late-onset neurodegenerative syndrome of dysarthria,gait disturbance,non insulin-dependent diabetes mellitus,sytemic hemosiderosis

Relevant External Links for CP

Genetic Association Database (GAD)
CP
Human Genome Epidemiology (HuGE) Navigator
CP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CP
genes like me logo Genes that share disorders with CP: view

Publications for CP Gene

  1. Ceruloplasmin gene variations and substantia nigra hyperechogenicity in Parkinson disease. (PMID: 15557511) Hochstrasser H. … Berg D. (Neurology 2004) 3 4 23 48 67
  2. Increased oxidized low density lipoprotein associated with high ceruloplasmin activity in patients with active acromegaly. (PMID: 19681912) Boero L. … Brites F. (Clin. Endocrinol. (Oxf) 2010) 3 23
  3. Identification of human plasma proteins as major clients for the extracellular chaperone clusterin. (PMID: 19996109) Wyatt A.R. … Wilson M.R. (J. Biol. Chem. 2010) 3 23
  4. Ceruloplasmin is a better predictor of the long-term prognosis compared with fibrinogen, CRP, and IL-6 in patients with severe unstable angina. (PMID: 18388036) Ziakas A. … Parharidis G. (Angiology 2009) 3 23
  5. Reactive oxygen species regulate ceruloplasmin by a novel mRNA decay mechanism involving its 3'-untranslated region: implications in neurodegenerative diseases. (PMID: 19019832) Tapryal N. … Mukhopadhyay C.K. (J. Biol. Chem. 2009) 3 23

Products for CP Gene

Sources for CP Gene

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