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Aliases for CP Gene

Aliases for CP Gene

  • Ceruloplasmin (Ferroxidase) 2 3
  • 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 aceruloplasminemia and cerebellar ataxia. 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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 6 Cu cations per monomer.;
    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:0004322 ferroxidase activity TAS --
GO:0005507 copper ion binding IEA --
GO:0016491 oxidoreductase activity --
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

Animal Models for CP Gene

MGI Knock Outs for CP:
  • Cp tm1Hrs
  • Cp tm1Samd
  • Cp tm1Yos

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
cytosol 2
golgi apparatus 2
mitochondrion 2
cytoskeleton 1
endoplasmic reticulum 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 16502470
GO:0005623 cell --
GO:0005765 lysosomal membrane IDA 17897319
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

PCR Array Products

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:0006879 cellular iron ion homeostasis TAS --
GO:0055085 transmembrane transport TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with CP: view

Drugs & Compounds for CP Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Drotrecogin alfa Approved, Investigational, Withdrawn Pharma Target 0
Carbamazepine Approved, Investigational Pharma Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant 115
Ciprofloxacin Approved, Investigational Pharma 200
Deferoxamine Approved, Investigational Pharma 44
Desogestrel Approved Pharma 69

(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 MAF
rs696994 -- 149,218,790(+) ACTTG(C/T)ATATG intron-variant
rs701749 -- 149,222,231(-) AAGAA(C/T)GACTG upstream-variant-2KB
rs701750 -- 149,212,267(+) GGTCG(C/T)GCCAC intron-variant
rs701751 -- 149,212,011(+) ATAGT(C/T)GGCCG intron-variant
rs701752 -- 149,205,143(+) aatca(A/C)aacca intron-variant

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: 92.87% 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

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

Disorder Aliases PubMed IDs
aceruloplasminemia
  • ceruloplasmin deficiency
cerebellar ataxia
  • hemosiderosis, systemic, due to aceruloplasminemia
chronic pyelonephritis
hemosiderosis
  • haemosiderosis
nutmeg liver
  • chronic passive congestion of liver
- elite association
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. Influence of estrogens on copper indicators: in vivo and in vitro studies. (PMID: 19685012) Arredondo M. … Araya M. (Biol Trace Elem Res 2010) 23 67
  2. Increased ceruloplasmin and fibrinogen in type 2 diabetes corresponds to decreased anti-oxidant activity in a preliminary tertiary South Indian hospital study. (PMID: 19834873) Chacko S.K. … Cheluvappa R. (Exp. Clin. Endocrinol. Diabetes 2010) 23 67
  3. Crystal structure of plant ferritin reveals a novel metal binding site that functions as a transit site for metal transfer in ferritin. (PMID: 20007325) Masuda T. … Mikami B. (J. Biol. Chem. 2010) 23 67
  4. An association among iron, copper, zinc, and selenium, and antioxidative status in dyslipidemic pediatric patients with glycogen storage disease types IA and III. (PMID: 20122579) Kalkan Ucar S. … Darcan S. (J Trace Elem Med Biol 2010) 23 67
  5. Levels of plasma ceruloplasmin protein are markedly lower following dietary copper deficiency in rodents. (PMID: 20170749) Broderius M. … Prohaska J.R. (Comp. Biochem. Physiol. C Toxicol. Pharmacol. 2010) 23 67

Products for CP Gene

Sources for CP Gene

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