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SLC40A1 V162del

Stable Identifier
R-HSA-5655818
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
MTP1, IREG1, Ferroportin, Solute carrier family 40 member 1, S40A1_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
SLC40A1, FPN1, IREG1, SLC11A3, MSTP079
Chain
chain:1-571
Reference Transcript
Other Identifiers
0003190601
11715788_a_at
11715789_a_at
16906419
223044_at
2591859
2591860
2591861
2591862
2591864
2591865
2591866
2591868
2591874
2591875
2591877
2591878
2591884
2591887
2591888
2591889
2591890
30061
45826_at
65634
8057677
A_23_P102391
CCDS2299
ENSG00000138449
ENSP00000261024
ENST00000261024
EntrezGene:30061
g12053382_3p_at
GE58603
GO:0002260
GO:0003158
GO:0004872
GO:0005381
GO:0005515
GO:0005622
GO:0005654
GO:0005737
GO:0005829
GO:0005886
GO:0005887
GO:0006810
GO:0006811
GO:0006826
GO:0006879
GO:0008021
GO:0015093
GO:0016020
GO:0016021
GO:0016323
GO:0017046
GO:0034395
GO:0034755
GO:0042802
GO:0043066
GO:0045944
GO:0048536
GO:0055072
GO:0060345
GO:0060586
GO:0097689
GO:1903988
HGNC:10909
HPA065634
Hs.643005
ILMN_1761833
ILMN_2053103
LRG_837
LRG_837t1
MIM:604653
MIM:606069
NM_014585
NP_055400
PF06963
PH_hs_0024808
Q4PNE6
SLC40A1
SLC40A1-201
TC02002614.hg
TC02004748.hg
uc002uqp.5
UPI0000034CC2
XM_005246505
XM_017003938
XP_005246562
XP_016859427
Participant Of
Other forms of this molecule
Modified Residues
Name
Deletion of residues 162 to 162
Disease
Name Identifier Synonyms
hemochromatosis 2352 iron storage disorder, Hemochromatosis (disorder), diabetes bronze, Bronze diabetes (disorder), HEMOCHROMATOSIS, Hemochromatosis (disorder), Bronzed diabetes, Haemochromatosis, Haemochromatosis
Cross References
RefSeq
GeneCards
ZINC target
PRO
Orphanet
HMDB Protein