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CP 778fs*12 [extracellular region]
Stable Identifier
R-HSA-5621437
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
extracellular region
Synonyms
Ceruloplasmin, CERU_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective CP causes aceruloplasminemia (ACERULOP) (Homo sapiens)
Defective CP does not oxidise Fe2+ to Fe3+ (Homo sapiens)
CP mutants:6xCu2+:SLC40A1 [plasma membrane] (Homo sapiens)
CP mutants [extracellular region] (Homo sapiens)
CP 778fs*12 [extracellular region] (Homo sapiens)
External Reference Information
External Reference
UniProt:P00450 CP
Gene Names
CP
Chain
signal peptide:1-19, chain:20-1065
Reference Genes
BioGPS Gene:1356 CP
COSMIC (genes):CP CP
CTD Gene:1356 CP
dbSNP Gene:1356 CP
ENSEMBL:ENSG00000047457 CP
ENSEMBL_homo_sapiens_GENE:ENSG00000047457.14 CP
HGNC:2295 CP
KEGG Gene (Homo sapiens):1356 CP
Monarch:1356 CP
NCBI Gene:1356 CP
OMIM:117700 CP
UCSC:P00450 CP
Reference Transcript
RefSeq:NM_000096.3 CP
Other Identifiers
11726981_a_at
11726982_a_at
11755193_x_at
1356
1558034_PM_s_at
1558034_s_at
16960304
204846_3p_at
204846_PM_at
204846_at
227253_PM_at
227253_at
2700249
2700250
2700251
2700252
2700253
2700259
2700260
2700263
2700264
2700265
2700266
2700267
2700269
2700272
2700275
2700276
2700278
2700280
2700283
2700284
2700285
2700287
2700288
2700289
2700290
2700292
2700293
2700295
2700300
2700301
3106583
3106584
3106585
3106706
39008_at
56606_at
8091385
A_33_P3296587
GE57820
GO:0003824
GO:0004322
GO:0005507
GO:0005576
GO:0005615
GO:0005764
GO:0005765
GO:0005773
GO:0005783
GO:0005788
GO:0005886
GO:0006811
GO:0006825
GO:0006826
GO:0006879
GO:0016491
GO:0043226
GO:0046872
GO:0051087
GO:0055065
GO:0070062
GO:0072562
GO:0110165
HMNXSV003009304
HMNXSV003040104
Hs.282804.1.A1_3p_at
Hs.296634.1.S1_3p_a_at
Hs2.407414.1.S1_3p_s_at
ILMN_1813206
M13699_at
PH_hs_0028098
TC03001884.hg
g4557484_3p_a_at
g4557484_3p_at
Participates
as a member of
CP mutants [extracellular region] (Homo sapiens)
Other forms of this molecule
CP E797Rfs*12 [extracellular region]
CP W858* [extracellular region]
CP D411Tfs*36 [extracellular region]
p-CP [endoplasmic reticulum lumen]
CP [endoplasmic reticulum lumen]
CP [extracellular region]
Modified Residues
Name
Replacement of residues 778 to 788
Disease
Name
Identifier
Synonyms
aceruloplasminemia
DOID:0050711
Cross References
RefSeq
NP_000087.1
OpenTargets
ENSG00000047457
HPA
ENSG00000047457-CP
GeneCards
P00450
Ensembl
ENSG00000047457
,
ENST00000264613
,
ENSP00000264613
PRO
P00450
Pharos - Targets
P00450
Orphanet
15791
HMDB Protein
HMDBP00472
PDB
1KCW
,
4ENZ
,
4EJX
,
2J5W
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