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Go!
CUBN P1297L [plasma membrane]
Stable Identifier
R-HSA-3296479
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
cubilin pro1297leu
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Defects in vitamin and cofactor metabolism (Homo sapiens)
Defects in cobalamin (B12) metabolism (Homo sapiens)
Defective CUBN causes MGA1 (Homo sapiens)
Defective CUBN does not transport GIF:Cbl (Homo sapiens)
CUBN P1297L:AMN [plasma membrane] (Homo sapiens)
CUBN P1297L [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:O60494 CUBN
Gene Names
CUBN, IFCR
Chain
signal peptide:1-23, propeptide:24-35, chain:36-3623
Reference Genes
BioGPS Gene:8029 CUBN
COSMIC (genes):CUBN CUBN
CTD Gene:8029 CUBN
dbSNP Gene:8029 CUBN
ENSEMBL:ENSG00000107611 CUBN
HGNC:2548 CUBN
KEGG:hsa:8029 CUBN
Monarch:8029 CUBN
NCBI Gene:8029 CUBN
OMIM:602997 CUBN
UCSC:O60494 CUBN
Reference Transcript
RefSeq:NM_001081.3 CUBN
Other Identifiers
11735086_x_at
16712168
206775_PM_at
206775_at
3244564
3244565
3244569
3244575
3244576
3279699
3279700
3279702
3279703
3279707
3279709
3279710
3279711
3279712
3279715
3279716
3279717
3279718
3279719
3279722
3279724
3279725
3279727
3279728
3279729
3279730
3279731
3279732
3279733
3279734
3279735
3279736
3279738
3279739
3279740
3279741
3279742
3279743
3279744
3279746
3279747
3279749
3279750
3279754
3279756
3279757
3279758
3279760
3279761
3279763
3279764
3279768
3279771
3279773
3279779
3279780
3279785
3279788
3279798
3279799
3279800
3279801
3279802
3279803
3279804
3279807
3279808
3279809
3279810
3279811
3279812
3279813
3279816
3279818
3279819
3279820
3279821
3279822
3279824
3279825
3279826
3279827
3279828
3279829
3279833
3279834
3279835
3279836
3279837
3279838
3279839
3279840
3279841
3279842
3279843
3279844
3286074
3286080
3286081
3286890
35416_at
35417_at
7932326
79919_at
8029
A_23_P127027
A_33_P3219939
A_33_P3241891
GE487454
GE54262
GO:0001894
GO:0005509
GO:0005515
GO:0005737
GO:0005764
GO:0005765
GO:0005768
GO:0005773
GO:0005783
GO:0005794
GO:0005829
GO:0005886
GO:0005903
GO:0005905
GO:0006629
GO:0006766
GO:0006897
GO:0006898
GO:0008203
GO:0009235
GO:0009617
GO:0015031
GO:0015889
GO:0016020
GO:0016192
GO:0016324
GO:0030139
GO:0031232
GO:0031410
GO:0031419
GO:0031526
GO:0031528
GO:0038023
GO:0038024
GO:0042803
GO:0042953
GO:0043202
GO:0043226
GO:0043235
GO:0045177
GO:0046872
GO:0051649
GO:0060089
GO:0070062
HMNXSV003018878
HMNXSV003021530
ILMN_1755203
PH_hs_0010013
TC10001070.hg
TC10002485.hg
g4557502_3p_at
Participates
as a component of
CUBN P1297L:AMN [plasma membrane] (Homo sapiens)
Other forms of this molecule
CUBN [cytosol]
CUBN [lysosomal lumen]
CUBN [plasma membrane]
Modified Residues
Name
L-proline 1297 replaced with L-leucine
Coordinate
1297
PsiMod
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
L-proline removal [MOD:01645]
A protein modification that effectively removes or replaces an L-proline.
Disease
Name
Identifier
Synonyms
megaloblastic anemia
DOID:13382
megaloblastic anemia, Megaloblastic anemia (disorder), Anaemia - megaloblastic, Megaloblastic anemia NOS (disorder), Megaloblastic anaemia, ANEMIA MEGALOBLASTIC, Megaloblastic anemia NOS, Megaloblastic Anemia, Megaloblastic anemia NOS (disorder), Anaemia - megaloblastic, Megaloblastic anemia, NOS, Megaloblastic anemia NOS
Cross References
RefSeq
NP_001072.2
ENSEMBL
ENST00000377833
,
ENSP00000367064
OpenTargets
ENSG00000107611
HPA
ENSG00000107611-CUBN
PRO
O60494
Pharos - Targets
O60494
Orphanet
CUBN
HMDB Protein
HMDBP02626
PDB
3KQ4
,
6GJE
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q9BXJ7 AMN
3
AMN T41I [plasma membrane]
(R-HSA-3299658)
AMN G5Afs*12 [plasma membrane]
(R-HSA-3296484)
AMN [plasma membrane]
(R-HSA-264825)
0.602
3
UniProt:P27352 CBLIF
3
CBLIF S27Cfs*23 [extracellular region]
(R-HSA-3315461)
CBLIF [extracellular region]
(R-HSA-2980918)
CBLIF [lysosomal lumen]
(R-HSA-3000272)
0.558
2
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