GIF S27Cfs*23

Stable Identifier
R-HSA-3315461
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Gastric intrinsic factor, IF_HUMAN, GIF
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
GIF, IFMH
Chain
signal peptide:1-18, chain:19-417
Reference Transcript
Other Identifiers
0005910593
11733983_a_at
11748336_a_at
16738786
207033_at
2694
2CKT
2PMV
32470_at
39908
3KQ4
40774
7948433
A_23_P52974
CCDS7977
ENSG00000134812
ENSP00000257248
ENST00000257248
EntrezGene:2694
g4826743_3p_at
GE80514
GIF
GIF-201
GO:0005576
GO:0005615
GO:0005768
GO:0005902
GO:0006810
GO:0006811
GO:0006824
GO:0009235
GO:0015889
GO:0016324
GO:0031419
GO:0043202
HGNC:4268
HPA039908
HPA040774
Hs.110014
ILMN_1731547
M63154_at
MIM:261000
MIM:609342
NM_005142
NP_005133
PF01122
PF14478
PH_hs_0006064
TC11001836.hg
uc001noi.4
UPI0000001C67
XM_011544939
XP_011543241
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 27 to 48 by CEYDVFPRRSGKQLPWGRGCDL
Disease
Name Identifier Synonyms
megaloblastic anemia 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
GeneCards
DOCK Blaster
PRO
Orphanet
PDB
HMDB Protein
Interactors (2)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q96Q45-2 TMEM237      0.488 4
 UniProt:Q9UKG4 SLC13A4  1 0.488 2