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CP ceruloplasmin [ Homo sapiens (human) ]

Gene ID: 1356, updated on 15-Apr-2019

Summary

Official Symbol
CPprovided by HGNC
Official Full Name
ceruloplasminprovided by HGNC
Primary source
HGNC:HGNC:2295
See related
Ensembl:ENSG00000047457 MIM:117700
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
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

Genomic context

Location:
3q24-q25.1
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (149162410..149222045, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (148880197..148939832, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene helicase like transcription factor Neighboring gene HLTF antisense RNA 1 Neighboring gene mediator complex subunit 28 pseudogene 2 Neighboring gene HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 Neighboring gene uncharacterized LOC101927942 Neighboring gene ceruloplasmin and hephaestin like 1, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Deficiency of ferroxidase
MedGen: C0878682 OMIM: 604290 GeneReviews: Aceruloplasminemia
Compare labs

NHGRI GWAS Catalog

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

HIV-1 interactions

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chaperone binding IPI
Inferred from Physical Interaction
more info
PubMed 
copper ion binding IEA
Inferred from Electronic Annotation
more info
 
ferroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ferroxidase activity TAS
Traceable Author Statement
more info
 
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cellular iron ion homeostasis TAS
Traceable Author Statement
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
copper ion transport IEA
Inferred from Electronic Annotation
more info
 
iron ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
blood microparticle HDA PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane HDA PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ceruloplasmin
Names
ceruloplasmin (ferroxidase)
XP_006713562.1
XP_006713563.1
XP_006713564.1
XP_011510737.1
XP_016861223.1
XP_016861224.1

NCBI Reference Sequences (RefSeq)

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_011800.2 RefSeqGene

    Range
    5001..54547
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000096.4NP_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
    Related
    ENSP00000264613.6, ENST00000264613.11
    Conserved Domains (6) summary
    cd04222
    Location:22202
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:369572
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:732902
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11012
    Location:9131057
    CuRO_6_ceruloplasmin; The sixth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:214354
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:575718
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin

RNA

  1. NR_046371.1 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)
    AK299272, BC094709, CB321657, DC334592
    Related
    ENST00000481169.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    149162410..149222045 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713499.3XP_006713562.1  ceruloplasmin isoform X2

    Conserved Domains (6) summary
    cd04222
    Location:22202
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:369572
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:732902
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11012
    Location:9131057
    CuRO_6_ceruloplasmin; The sixth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:214354
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:575718
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
  2. XM_011512435.2XP_011510737.1  ceruloplasmin isoform X1

    Conserved Domains (6) summary
    cd04222
    Location:22202
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:369572
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:732902
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11012
    Location:9131057
    CuRO_6_ceruloplasmin; The sixth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:214354
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:575718
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
  3. XM_017005735.2XP_016861224.1  ceruloplasmin isoform X6

  4. XM_006713500.4XP_006713563.1  ceruloplasmin isoform X3

    Conserved Domains (6) summary
    cd04222
    Location:22202
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:369572
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:732902
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11012
    Location:9131057
    CuRO_6_ceruloplasmin; The sixth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:214354
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:575718
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
  5. XM_006713501.3XP_006713564.1  ceruloplasmin isoform X5

    Conserved Domains (6) summary
    cd04222
    Location:22202
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:369572
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:732902
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11012
    Location:9131057
    CuRO_6_ceruloplasmin; The sixth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:214354
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:575718
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
  6. XM_017005734.2XP_016861223.1  ceruloplasmin isoform X4

RNA

  1. XR_427361.3 RNA Sequence

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