SLC40A1 D181V [plasma membrane]

Stable Identifier
R-HSA-5655786
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
MTP1, IREG1, Ferroportin, Solute carrier family 40 member 1, S40A1_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:Q9NP59 SLC40A1
Gene Names
SLC40A1, FPN1, IREG1, SLC11A3, MSTP079
Chain
chain:1-571
Reference Genes
BioGPS Gene:30061 SLC40A1
COSMIC (genes):SLC40A1 SLC40A1
CTD Gene:30061 SLC40A1
dbSNP Gene:30061 SLC40A1
ENSEMBL:ENSG00000138449.11 SLC40A1
HGNC:10909 SLC40A1
KEGG Gene (Homo sapiens):30061 SLC40A1
Monarch:30061 SLC40A1
NCBI Gene:30061 SLC40A1
OMIM:604653 SLC40A1
UCSC:Q9NP59 SLC40A1
Reference Transcript
Other Identifiers
0003190601
0103360035
11715788_a_at
11715789_a_at
16906419
223044_PM_at
223044_at
2591858
2591859
2591860
2591861
2591862
2591864
2591865
2591866
2591868
2591874
2591875
2591877
2591878
2591884
2591887
2591888
2591889
2591890
2591891
30061
45826_at
8057677
A_23_P102391
GE58603
GO:0002260
GO:0002376
GO:0003158
GO:0005215
GO:0005381
GO:0005515
GO:0005622
GO:0005634
GO:0005654
GO:0005737
GO:0005829
GO:0005886
GO:0005887
GO:0006351
GO:0006355
GO:0006366
GO:0006811
GO:0006826
GO:0006879
GO:0006915
GO:0008021
GO:0012501
GO:0015093
GO:0016020
GO:0016021
GO:0016323
GO:0017046
GO:0031410
GO:0034395
GO:0034755
GO:0042802
GO:0043066
GO:0043226
GO:0045944
GO:0046872
GO:0048536
GO:0048856
GO:0051649
GO:0055065
GO:0055072
GO:0055085
GO:0060345
GO:0060586
GO:1903988
HMNXSV003009430
ILMN_1761833
ILMN_2053103
PH_hs_0024808
TC02002614.hg
TC02004748.hg
g12053382_3p_at
Participates
as a member of
Other forms of this molecule
SLC40A1 V162del [plasma membrane]
SLC40A1 N144H [plasma membrane]
SLC40A1 G80V [plasma membrane]
SLC40A1 D157G [plasma membrane]
SLC40A1 A77D [plasma membrane]
SLC40A1 [plasma membrane]
Modified Residues
Name
L-aspartic acid 181 replaced with L-valine
Coordinate
181
PsiMod
L-valine residue [MOD:00029]
A protein modification that effectively converts a source amino acid residue to an L-valine.
L-aspartic acid removal [MOD:01634]
A protein modification that effectively removes or replaces an L-aspartic acid.
Disease
Name Identifier Synonyms
hemochromatosis DOID:2352 iron storage disorder, Hemochromatosis (disorder), diabetes bronze, Bronze diabetes (disorder), HEMOCHROMATOSIS, Hemochromatosis (disorder), Bronzed diabetes, Haemochromatosis, Haemochromatosis
Cross References
RefSeq
Guide to Pharmacology - Targets
OpenTargets
GeneCards
HPA
ZINC target
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
HMDB Protein
Interactors (1)
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