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    CP ceruloplasmin [ Homo sapiens (human) ]

    Gene ID: 1356, updated on 2-Aug-2021

    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
    NEW
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    Genomic context

    Location:
    3q24-q25.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (149162410..149222008, complement)
    105.20201022 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 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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Clinical and genetic association of serum ceruloplasmin with cardiovascular risk.
    GeneReviews: Not available
    Deficiency of ferroxidase Compare labs
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    GeneReviews: Not available

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chaperone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables copper ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ferroxidase activity TAS
    Traceable Author Statement
    more info
     
    enables oxidoreductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular iron ion homeostasis TAS
    Traceable Author Statement
    more info
     
    involved_in copper ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in iron ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in iron ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    ceruloplasmin
    Names
    ceruloplasmin (ferroxidase)
    NP_000087.2
    XP_006713562.1
    XP_006713563.1
    XP_006713564.1
    XP_011510737.1
    XP_016861223.1
    XP_016861224.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000096.4NP_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_046371.2 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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      149162410..149222008 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

      Related
      ENST00000490639.5
      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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