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CBLIF S27Cfs*23 [extracellular region]
Stable Identifier
R-HSA-3315461
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
extracellular region
Synonyms
Gastric intrinsic factor, IF_HUMAN, GIF
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 CBLIF causes IFD (Homo sapiens)
Defective CBLIF does not bind Cbl (Homo sapiens)
CBLIF S27Cfs*23 [extracellular region] (Homo sapiens)
External Reference Information
External Reference
UniProt:P27352 CBLIF
Gene Names
CBLIF, GIF, IFMH
Chain
signal peptide:1-18, chain:19-417
Reference Genes
BioGPS Gene:2694 CBLIF
COSMIC (genes):CBLIF CBLIF
CTD Gene:2694 CBLIF
dbSNP Gene:2694 CBLIF
ENSEMBL:ENSG00000134812 GIF
HGNC:4268 CBLIF
KEGG:hsa:2694 CBLIF
Monarch:2694 CBLIF
NCBI Gene:2694 CBLIF
OMIM:609342 CBLIF
UCSC:P27352 CBLIF
Reference Transcript
RefSeq:NM_005142.2 CBLIF
Other Identifiers
11733983_a_at
11748336_a_at
11761226_at
16738786
207033_PM_at
207033_at
2694
32470_at
3374875
3374876
3374877
3374878
3374879
3374880
3374881
3374883
3374884
3374885
3374886
3374887
3374888
3374889
7948433
A_23_P52974
GE80514
GO:0005515
GO:0005576
GO:0005615
GO:0005768
GO:0005902
GO:0006824
GO:0015889
GO:0016324
GO:0031410
GO:0031419
GO:0043202
GO:0043226
GO:0055085
GO:0140355
HMNXSV003042265
ILMN_1731547
M63154_at
PH_hs_0006064
TC11001836.hg
g4826743_3p_at
Participates
as an input of
Defective CBLIF does not bind Cbl (Homo sapiens)
Other forms of this molecule
CBLIF [extracellular region]
CBLIF [lysosomal lumen]
Modified Residues
Name
Replacement of residues 27 to 48 by CEYDVFPRRSGKQLPWGRGCDL
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_005133.2
ENSEMBL
ENSP00000257248
,
ENST00000257248
OpenTargets
ENSG00000134812
HPA
ENSG00000134812-CBLIF
PRO
P27352
Pharos - Targets
P27352
GlyGen
P27352
Orphanet
CBLIF
HMDB Protein
HMDBP01997
PDB
2PMV
,
3KQ4
Interactors (7)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:O60494 CUBN
4
CUBN P1297L [plasma membrane]
(R-HSA-3296479)
CUBN [cytosol]
(R-HSA-350162)
CUBN [lysosomal lumen]
(R-HSA-350088)
CUBN [plasma membrane]
(R-HSA-264843)
0.558
2
UniProt:Q8TBB6 S7A14
0.556
3
UniProt:A1A5C7-2 SLC22A23
0.556
3
UniProt:P30825 SLC7A1
1
SLC7A1 [plasma membrane]
(R-HSA-375771)
0.556
3
UniProt:O15552 FFAR2
1
FFAR2 [plasma membrane]
(R-HSA-443944)
0.556
3
UniProt:Q9UKG4 SLC13A4
1
SLC13A4 [plasma membrane]
(R-HSA-433098)
0.556
3
UniProt:Q96Q45-2 TMEM237
0.556
3
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