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CP ceruloplasmin [ Homo sapiens (human) ]

Gene ID: 1356, updated on 10-Dec-2024

Summary

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Official Symbol
CPprovided by HGNC
Official Full Name
ceruloplasminprovided by HGNC
Primary source
HGNC:HGNC:2295
See related
Ensembl:ENSG00000047457 MIM:117700; AllianceGenome:HGNC:2295
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CP-2; AB073614
Summary
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]
Expression
Biased expression in liver (RPKM 413.3) and urinary bladder (RPKM 15.0) See more
Orthologs
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Genomic context

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Location:
3q24-q25.1
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (149162414..149221829, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (151913150..151972585, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (148880201..148939616, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene glycogenin 1 Neighboring gene helicase like transcription factor Neighboring gene OCT4-NANOG-H3K27ac hESC enhancers GRCh37_chr3:148803647-148804164 and GRCh37_chr3:148804165-148804682 Neighboring gene HLTF antisense RNA 1 Neighboring gene mediator complex subunit 28 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:148847467-148847966 Neighboring gene HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:148914047-148914842 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:148914843-148915640 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:148915641-148916436 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:148916437-148917233 Neighboring gene uncharacterized LOC101927942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20680 Neighboring gene ceruloplasmin and hephaestin like 1, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:148987331-148988530

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Role of copper in thermal stability of human ceruloplasmin. Sedlák E, et al. Biophys J, 2008 Feb 15. PMID 17965133, Free PMC Article
  2. Lower serum ceruloplasmin levels correlate with younger age of onset in Parkinson's disease. Bharucha KJ, et al. J Neurol, 2008 Dec. PMID 19159062
  3. Hyaluronan regulates ceruloplasmin production by gliomas and their treatment-resistant multipotent progenitors. Tye SL, et al. J Child Neurol, 2008 Oct. PMID 18952589, Free PMC Article
  4. Placental expression of ceruloplasmin in pregnancies complicated by severe preeclampsia. Guller S, et al. Lab Invest, 2008 Oct. PMID 18679377, Free PMC Article
  5. High brain iron level in asymptomatic carriers of heterozygous ceruloplasmin gene mutations. Chen Q, et al. Mov Disord, 2008 Apr 30. PMID 18311828

See all (229) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Ceruloplasmin expression in renal cell carcinoma correlates with higher-grade and shortened survival.
    Title: Ceruloplasmin expression in renal cell carcinoma correlates with higher-grade and shortened survival.
  2. Tumor associated macrophages transfer ceruloplasmin mRNA to fibrosarcoma cells and protect them from ferroptosis.
    Title: Tumor associated macrophages transfer ceruloplasmin mRNA to fibrosarcoma cells and protect them from ferroptosis.
  3. Ceruloplasmin Reduces the Lactoferrin/Oleic Acid Antitumor Complex-Mediated Release of Heme-Containing Proteins from Blood Cells.
    Title: Ceruloplasmin Reduces the Lactoferrin/Oleic Acid Antitumor Complex-Mediated Release of Heme-Containing Proteins from Blood Cells.
  4. Wilson's disease: overview.
    Title: Wilson's disease: overview.
  5. Ceruloplasmin gene variants are associated with hyperferritinemia and increased liver iron in patients with NAFLD.
    Title: Ceruloplasmin gene variants are associated with hyperferritinemia and increased liver iron in patients with NAFLD.
  6. Ceruloplasmin overexpression is associated with oncogenic pathways and poorer survival rates in clear-cell renal cell carcinoma.
    Title: Ceruloplasmin overexpression is associated with oncogenic pathways and poorer survival rates in clear-cell renal cell carcinoma.
  7. Iron Deficiency in Inflammatory Bowel Disease Is Associated With Low Levels of Vitamin D Modulating Serum Hepcidin and Intestinal Ceruloplasmin Expression.
    Title: Iron Deficiency in Inflammatory Bowel Disease Is Associated With Low Levels of Vitamin D Modulating Serum Hepcidin and Intestinal Ceruloplasmin Expression.
  8. Ceruloplasmin as Redox Marker Related to Heart Failure Severity.
    Title: Ceruloplasmin as Redox Marker Related to Heart Failure Severity.
  9. Genetic Variability in the Iron Homeostasis Pathway and Patient Outcomes After Aneurysmal Subarachnoid Hemorrhage.
    Title: Genetic Variability in the Iron Homeostasis Pathway and Patient Outcomes After Aneurysmal Subarachnoid Hemorrhage.
  10. Urinary levels of ceruloplasmin and monocyte chemoattractant protein-1 correlate with extra-capillary proliferation and chronic damage in patients with lupus nephritis.
    Title: Urinary levels of ceruloplasmin and monocyte chemoattractant protein-1 correlate with extra-capillary proliferation and chronic damage in patients with lupus nephritis.
Submit: New GeneRIF Correction See all GeneRIFs (141)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Clinical and genetic association of serum ceruloplasmin with cardiovascular risk.
EBI GWAS Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of ceruloplasmin (CP; ferroxidase) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables copper ion binding IEA
Inferred from Electronic Annotation
more info
  
enables ferroxidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ferroxidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables ferroxidase activity TAS
Traceable Author Statement
more info
  
enables glutathione peroxidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables oxidoreductase activity, acting on metal ions, oxygen as acceptor IDA
Inferred from Direct Assay
more info
 PubMed 
enables phospholipid-hydroperoxide glutathione peroxidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein-folding chaperone binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular copper ion homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in intracellular iron ion homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in intracellular iron ion homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intracellular iron ion homeostasis TAS
Traceable Author Statement
more info
  
involved_in iron ion transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in blood microparticle HDA PubMed 
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular region NAS
Non-traceable Author Statement
more info
 PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space HDA PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in lysosomal membrane HDA PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
ceruloplasmin
Names
ceruloplasmin (ferroxidase)
cuproxidase ceruloplasmin
ferroxidase ceruloplasmin
glutathione peroxidase ceruloplasmin
glutathione-dependent peroxiredoxin ceruloplasmin
NP_000087.2
XP_006713562.1
XP_006713563.1
XP_006713564.1
XP_011510737.1
XP_016861223.1
XP_016861224.1
XP_054201271.1
XP_054201272.1
XP_054201273.1
XP_054201274.1
XP_054201275.1
XP_054201276.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011800.3 RefSeqGene

    Range
    5217..54549
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000096.4 → NP_000087.2  ceruloplasmin precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer, protein-coding transcript.
    Source sequence(s)
    AC093001, AC131209
    Consensus CDS
    CCDS3141.1
    UniProtKB/Swiss-Prot
    P00450, Q14063, Q2PP18, Q9UKS4
    UniProtKB/TrEMBL
    A5PL27
    Related
    ENSP00000264613.6, ENST00000264613.11
    Conserved Domains (6) summary
    cd04222
    Location:22 → 202
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:369 → 572
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:732 → 902
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11012
    Location:913 → 1057
    CuRO_6_ceruloplasmin; The sixth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:214 → 354
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:575 → 718
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin

RNA

  1. NR_046371.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate internal exons and has a different 3' end structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC093001, AC131209
    Related
    ENST00000481169.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    149162414..149221829 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713499.4 → XP_006713562.1  ceruloplasmin isoform X2

    UniProtKB/TrEMBL
    A5PL27
    Conserved Domains (6) summary
    cd04222
    Location:22 → 202
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:369 → 572
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:732 → 902
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11012
    Location:913 → 1057
    CuRO_6_ceruloplasmin; The sixth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:214 → 354
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:575 → 718
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin

  2. XM_011512435.3 → XP_011510737.1  ceruloplasmin isoform X1

    UniProtKB/TrEMBL
    A5PL27
    Conserved Domains (6) summary
    cd04222
    Location:22 → 202
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:369 → 572
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:732 → 902
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11012
    Location:913 → 1057
    CuRO_6_ceruloplasmin; The sixth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:214 → 354
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:575 → 718
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin

  3. XM_017005735.3 → XP_016861224.1  ceruloplasmin isoform X6

    UniProtKB/TrEMBL
    Q1L857

  4. XM_006713500.5 → XP_006713563.1  ceruloplasmin isoform X3

    UniProtKB/TrEMBL
    A5PL27
    Conserved Domains (6) summary
    cd04222
    Location:22 → 202
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:369 → 572
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:732 → 902
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11012
    Location:913 → 1057
    CuRO_6_ceruloplasmin; The sixth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:214 → 354
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:575 → 718
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin

  5. XM_006713501.4 → XP_006713564.1  ceruloplasmin isoform X5

    UniProtKB/TrEMBL
    A5PL27
    Conserved Domains (6) summary
    cd04222
    Location:22 → 202
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:369 → 572
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:732 → 902
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11012
    Location:913 → 1057
    CuRO_6_ceruloplasmin; The sixth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:214 → 354
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:575 → 718
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin

  6. XM_017005734.3 → XP_016861223.1  ceruloplasmin isoform X4

    UniProtKB/TrEMBL
    A5PL27

RNA

  1. XR_427361.4 RNA Sequence

    Related
    ENST00000490639.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    151913150..151972585 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345297.1 → XP_054201272.1  ceruloplasmin isoform X2

    UniProtKB/TrEMBL
    A5PL27

  2. XM_054345296.1 → XP_054201271.1  ceruloplasmin isoform X1

    UniProtKB/TrEMBL
    A5PL27

  3. XM_054345301.1 → XP_054201276.1  ceruloplasmin isoform X6

    UniProtKB/TrEMBL
    Q1L857

  4. XM_054345298.1 → XP_054201273.1  ceruloplasmin isoform X3

    UniProtKB/TrEMBL
    A5PL27

  5. XM_054345300.1 → XP_054201275.1  ceruloplasmin isoform X5

    UniProtKB/TrEMBL
    A5PL27

  6. XM_054345299.1 → XP_054201274.1  ceruloplasmin isoform X4

    UniProtKB/TrEMBL
    A5PL27

RNA

  1. XR_008486661.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P00450.2 GenPept UniProtKB/Swiss-Prot:P00450

Gene LinkOut

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