Human Gene CP (ENST00000264613.11_7) from GENCODE V47lift37
  Description: ceruloplasmin, transcript variant 1 (from RefSeq NM_000096.4)
Gencode Transcript: ENST00000264613.11_7
Gencode Gene: ENSG00000047457.14_14
Transcript (Including UTRs)
   Position: hg19 chr3:148,890,284-148,939,616 Size: 49,333 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr3:148,891,501-148,939,579 Size: 48,079 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:148,890,284-148,939,616)mRNA (may differ from genome)Protein (1065 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CERU_HUMAN
DESCRIPTION: RecName: Full=Ceruloplasmin; EC=1.16.3.1; AltName: Full=Ferroxidase; Flags: Precursor;
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).
CATALYTIC ACTIVITY: 4 Fe(2+) + 4 H(+) + O(2) = 4 Fe(3+) + 2 H(2)O.
COFACTOR: Binds 6 copper ions per monomer.
SUBCELLULAR LOCATION: Secreted. Note=Colocalizes with GCP1 in secretory intracellular compartments (By similarity).
TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.
DISEASE: Defects in CP are the cause of aceruloplasminemia (ACERULOP) [MIM:604290]. It is 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.
DISEASE: 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.
SIMILARITY: Belongs to the multicopper oxidase family.
SIMILARITY: Contains 3 F5/8 type A domains.
SIMILARITY: Contains 6 plastocyanin-like domains.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CP";
WEB RESOURCE: Name=Wikipedia; Note=Ceruloplasmin entry; URL="http://en.wikipedia.org/wiki/Ceruloplasmin";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CP
Diseases sorted by gene-association score: cerebellar ataxia* (1369), wilson disease (27), hemosiderosis (19), menkes disease (8), handigodu joint disease (8), nutmeg liver (8), retinal degeneration (6), liver disease (6), hemochromatosis (5), pili torti (5), deficiency anemia (4), meningitis and encephalitis (4), ulcerative blepharitis (3), granulocytopenia (3), athetosis (3), mastitis (3), anthracosilicosis (2), toxic oil syndrome (2), eales disease (2), granulosa cell tumor of the ovary (2), asthma (2), swayback (2), oral cavity cancer (2), corticosteroid-binding globulin deficiency (1), epileptic encephalopathy, early infantile, 36 (1), ancylostomiasis (1), parkinson disease, late-onset (1), atransferrinemia (1), skeletal tuberculosis (1), infantile neuroaxonal dystrophy 1 (1), autistic disorder (1), behcet syndrome (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 195.51 RPKM in Liver
Total median expression: 372.51 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.4037-0.119 Picture PostScript Text
3' UTR -256.901217-0.211 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001117 - Cu-oxidase
IPR011706 - Cu-oxidase_2
IPR011707 - Cu-oxidase_3
IPR002355 - Cu_oxidase_Cu_BS
IPR008972 - Cupredoxin

Pfam Domains:
PF00394 - Multicopper oxidase
PF07731 - Multicopper oxidase
PF07732 - Multicopper oxidase

SCOP Domains:
49503 - Cupredoxins

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1KCW - X-ray 2J5W - X-ray


ModBase Predicted Comparative 3D Structure on P00450
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004322 ferroxidase activity
GO:0005507 copper ion binding
GO:0016491 oxidoreductase activity
GO:0046872 metal ion binding
GO:0051087 chaperone binding

Biological Process:
GO:0006811 ion transport
GO:0006825 copper ion transport
GO:0006879 cellular iron ion homeostasis
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005765 lysosomal membrane
GO:0005788 endoplasmic reticulum lumen
GO:0070062 extracellular exosome
GO:0072562 blood microparticle


-  Descriptions from all associated GenBank mRNAs
  AK299272 - Homo sapiens cDNA FLJ58075 complete cds, highly similar to Ceruloplasmin precursor (EC 1.16.3.1).
BX647327 - Homo sapiens mRNA; cDNA DKFZp779H0615 (from clone DKFZp779H0615).
BC146801 - Homo sapiens cDNA clone IMAGE:8860313.
BC039239 - Homo sapiens, Similar to ceruloplasmin (ferroxidase), clone IMAGE:4723479, mRNA.
BC142714 - Homo sapiens ceruloplasmin (ferroxidase), mRNA (cDNA clone MGC:165060 IMAGE:40148840), complete cds.
BC146663 - Homo sapiens ceruloplasmin (ferroxidase), mRNA (cDNA clone MGC:164885 IMAGE:40148048), complete cds.
M13536 - Human ceruloplasmin mRNA.
M13699 - Human ceruloplasmin (ferroxidase) mRNA, complete cds.
AK291219 - Homo sapiens cDNA FLJ76826 complete cds, highly similar to Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.
AK095290 - Homo sapiens cDNA FLJ37971 fis, clone CTONG2009958, highly similar to CERULOPLASMIN PRECURSOR (EC 1.16.3.1).
BC094709 - Homo sapiens ceruloplasmin (ferroxidase), mRNA (cDNA clone IMAGE:30717868).
BC061702 - Homo sapiens cDNA clone IMAGE:4716549, containing frame-shift errors.
JD355944 - Sequence 336968 from Patent EP1572962.
X69706 - H.sapiens hepatic mRNA for caeruloplasmin.
AB073614 - Homo sapiens primary hepatoblastoma cDNA, clone:HMFN1050, full insert sequence.
JD052028 - Sequence 33052 from Patent EP1572962.
X04138 - Human mRNA fragment for ceruloplasmin (aa 900-933).
X04137 - Human mRNA fragment for ceruloplasmin (aa 765-810).
AK309279 - Homo sapiens cDNA, FLJ99320.
X04136 - Human mRNA fragment for ceruloplasmin (aa 530-580).
BC070304 - Homo sapiens ceruloplasmin (ferroxidase), mRNA (cDNA clone IMAGE:4070606), partial cds.
X04135 - Human mRNA fragment for ceruloplasmin (aa -19 to 21).

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P00450 (Reactome details) participates in the following event(s):

R-HSA-904830 SLC40A1:CP:6Cu2+ transports Fe2+ from cytosol to extracellular region
R-HSA-917891 SLC40A1:CP:6Cu2+ oxidises Fe2+ to Fe3+
R-HSA-8952289 FAM20C phosphorylates FAM20C substrates
R-HSA-425410 Metal ion SLC transporters
R-HSA-917937 Iron uptake and transport
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation
R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds
R-HSA-382551 Transport of small molecules
R-HSA-392499 Metabolism of proteins
R-HSA-597592 Post-translational protein modification
R-HSA-425407 SLC-mediated transmembrane transport

-  Other Names for This Gene
  Alternate Gene Symbols: CERU_HUMAN, ENST00000264613.1, ENST00000264613.10, ENST00000264613.2, ENST00000264613.3, ENST00000264613.4, ENST00000264613.5, ENST00000264613.6, ENST00000264613.7, ENST00000264613.8, ENST00000264613.9, NM_000096, P00450, Q14063, Q2PP18, Q9UKS4, uc317htq.1, uc317htq.2
UCSC ID: ENST00000264613.11_7
RefSeq Accession: NM_000096.4
Protein: P00450 (aka CERU_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CP:
acp (Aceruloplasminemia)
dystonia-ov (Hereditary Dystonia Overview)
nbia-ov (Neurodegeneration with Brain Iron Accumulation Disorders Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.