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CP Gene(Protein Coding)

Ceruloplasmin

GCID:
GC03M149162
GIFtS:
67
Genes Participants
UDN Logo

Aliases for CP Gene

Aliases for CP Gene

  • Ceruloplasmin 2 3 3 5
  • Ceruloplasmin (Ferroxidase) 2 3
  • Ferroxidase 2 4
  • EC 1.16.3.1 4 61
  • 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) 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 Toll-Like receptor Signaling Pathways. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CP Gene

Genomics for CP Gene

Products:

  1. Regulatory Element

Regulatory Elements for CP Gene

Enhancers for CP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G149242 1.2 Ensembl ENCODE 29 -24.0 -24008 6.2 PKNOX1 FOXA2 FEZF1 TCF12 FOS JUNB REST MAFF SMARCA4 PBX2 CP HPS3 COMMD2 LOC101927942 ENSG00000244468
GH03G149213 1.3 Ensembl ENCODE 19 +2.2 2186 13.0 FOXA2 PKNOX1 MLX ZFP64 WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9 CP HPS3 COMMD2 HLTF GC03M149178
GH03G149297 1.5 Ensembl ENCODE dbSUPER 10.4 -77.9 -77941 4.3 PKNOX1 FOXA2 ATF1 ARID4B SIN3A FEZF1 BRCA1 ZNF2 YY1 SLC30A9 COMMD2 TM4SF18 TM4SF1 TM4SF1-AS1 CP CPHL1P
GH03G149196 1.2 Ensembl ENCODE dbSUPER 12 +24.5 24472 3.1 PKNOX1 TEAD4 CEBPG RBBP5 CHD7 ZIC2 ETS1 ZNF316 POLR2A PRDM10 CP HPS3 TMEM183B GC03M149178
GH03G149199 0.9 ENCODE dbSUPER 12 +22.4 22427 0.2 PKNOX1 PRDM6 CBX8 NFIC ZNF766 ZSCAN5C PBX2 PRDM10 CP GC03M149178
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CP on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CP gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for CP Gene

Proteins for CP Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for CP Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CP Gene

P00450:
  • HCHVTDH
  • WYLFSAGNE
  • WMLSCQNLNHLKAGLQAFF
  • YKKVVYR
  • YYSAVDP
  • HLGILGP
  • VHFHGHSFQY
  • RPYSIHAHGV
  • EDFQESN
  • TKDIFTGLIGPMKIC

Post-translational modifications for CP Gene

  • Glycosylation at isoforms=138, isoforms=358, Asn397, isoforms=492, Asn588, Asn762, and isoforms=926
  • Modification sites at PhosphoSitePlus

Other Protein References for CP Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CP (CP)

Domains & Families for CP Gene

Protein Domains for CP Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P00450

UniProtKB/Swiss-Prot:

CERU_HUMAN :
  • Belongs to the multicopper oxidase family.
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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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 IEA --
GO:0046872 metal ion binding IEA --
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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CP gene
Compartment Confidence
extracellular 5
lysosome 5
endoplasmic reticulum 3
mitochondrion 2
cytosol 2
golgi apparatus 2
plasma membrane 1
nucleus 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 TAS,IDA 16502470
GO:0005623 cell IEA --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005788 endoplasmic reticulum lumen TAS --
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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006825 copper ion transport IEA --
GO:0006879 cellular iron ion homeostasis IEA,TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with CP: view

Drugs & Compounds for CP Gene

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma 181
Oxygen Approved, Vet_approved Pharma 0
Drotrecogin alfa Approved, Investigational, Withdrawn Pharma Target 0
Water Approved Pharma 0

(58) 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
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with CP: view

Transcripts for CP Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CP Gene

(7) REFSEQ mRNAs :
(20) Additional mRNA sequences :
(440) Selected AceView cDNA sequences:
(15) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CP Gene

Ceruloplasmin (ferroxidase):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CP Gene

mRNA expression in normal human tissues for CP Gene
mRNA expression by BioGPS for CP GenemRNA expression by GTEx 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, MaxQB, and MOPED for CP Gene



Protein tissue co-expression partners for CP Gene

NURSA nuclear receptor signaling pathways regulating expression of CP Gene:

CP

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.

Evidence on tissue expression from TISSUES for CP Gene

  • Liver(5)
  • Nervous system(4.7)
  • Bone marrow(4.3)
  • Eye(3.7)
  • Blood(3.1)
  • Kidney(2.9)
  • Intestine(2.8)
  • Heart(2.7)
  • Lung(2.7)
  • Spleen(2.5)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • eyelid
  • face
  • head
  • neck
Thorax:
  • heart
Abdomen:
  • kidney
  • liver
  • pancreas
General:
  • blood
  • blood vessel
  • bone marrow
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with CP: view

Primer 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
chimpanzee
(Pan troglodytes)
 Mammalia CP 35
  • 100 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia LOC514194 34
  • 88.18 (n)
CP 35
  • 84 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia CP 34 35
  • 87.33 (n)
mouse
(Mus musculus)
 Mammalia Cp 34 16 35
  • 84.18 (n)
rat
(Rattus norvegicus)
 Mammalia Cp 34
  • 83.78 (n)
oppossum
(Monodelphis domestica)
 Mammalia CP 35
  • 72 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 35
  • 72 (a)
 OneToMany
-- 35
  • 67 (a)
 OneToMany
-- 35
  • 61 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves CP 34 35
  • 67.02 (n)
lizard
(Anolis carolinensis)
 Reptilia -- 35
  • 70 (a)
 OneToMany
-- 35
  • 61 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia cp 34
  • 63.34 (n)
zebrafish
(Danio rerio)
 Actinopterygii cp 34 35
  • 59.58 (n)
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.8345 34
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 40 (a)
 OneToMany
Species where no ortholog for CP was found in the sources mined by GeneCards:
  • 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
rs1057518247 Pathogenic 149,212,700(-) TTTGC(A/G)GGGAA splice-acceptor-variant
rs121909579 Pathogenic 149,179,587(-) TCCAT(A/G)GGCTT nc-transcript-variant, reference, stop-gained
rs139633388 Pathogenic 149,178,609(+) GGGGG(C/G)CAATT nc-transcript-variant, reference, missense
rs145784949 Pathogenic 149,185,366(+) CTGCC(A/G)CCTGC nc-transcript-variant, reference, missense
rs200683433 Pathogenic 149,212,616(+) TTCAT(C/G)TGTGT nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv3305220 CNV mobile element insertion 20981092
esv3309338 CNV mobile element insertion 20981092
esv3326828 CNV insertion 20981092
esv3383842 CNV insertion 20981092
esv3386128 CNV insertion 20981092
nsv4055 CNV deletion 18451855
nsv528012 CNV loss 19592680
nsv998572 CNV loss 25217958

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

Human Gene Mutation Database (HGMD)
CP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CP

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

Disorders for CP Gene

MalaCards: The human disease database

(43) 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
nutmeg liver
  • chronic passive congestion of liver
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 22 46 64
  2. Functional relevance of ceruloplasmin mutations in Parkinson's disease. (PMID: 16150804) Hochstrasser H. … Berg D. (FASEB J. 2005) 3 4 22 64
  3. Human ceruloplasmin. Tissue-specific expression of transcripts produced by alternative splicing. (PMID: 2355023) Yang F.M. … Bowman B.H. (J. Biol. Chem. 1990) 3 4 22 64
  4. 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 22 64
  5. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PMID: 20587610) Ucisik-Akkaya E. … Dorak M.T. (Mol. Hum. Reprod. 2010) 3 46 64

Products for CP Gene

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