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SLC40A1 N144H [plasma membrane]
Stable Identifier
R-HSA-5655754
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
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum) (Homo sapiens)
Defective SLC40A1 does not transport Fe3+ from extracellular region to cytosol (Homo sapiens)
HEPH:6xCu2+:SLC40A1 mutants [plasma membrane] (Homo sapiens)
SLC40A1 mutants [plasma membrane] (Homo sapiens)
SLC40A1 N144H [plasma membrane] (Homo sapiens)
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages) (Homo sapiens)
Defective SLC40A1 does not transport Fe2+ from cytosol to extracellular region (Homo sapiens)
SLC40A1 mutants:CP:6xCu2+ [plasma membrane] (Homo sapiens)
SLC40A1 mutants [plasma membrane] (Homo sapiens)
SLC40A1 N144H [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9NP59 SLC40A1
Gene Names
SLC40A1, FPN, 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 SLC40A1
ENSEMBL_homo_sapiens_GENE: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
RefSeq:NM_014585.5 SLC40A1
Other Identifiers
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:0005634
GO:0005654
GO:0005737
GO:0005829
GO:0005886
GO:0006351
GO:0006355
GO:0006357
GO:0006366
GO:0006811
GO:0006826
GO:0006879
GO:0006915
GO:0008021
GO:0012501
GO:0015093
GO:0016020
GO:0016323
GO:0017046
GO:0031410
GO:0034755
GO:0042802
GO:0043066
GO:0043226
GO:0045944
GO:0046872
GO:0048536
GO:0048856
GO:0051649
GO:0055065
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
SLC40A1 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC40A1 V162del [plasma membrane]
SLC40A1 [plasma membrane]
SLC40A1 A77D [plasma membrane]
SLC40A1 D157G [plasma membrane]
SLC40A1 G80V [plasma membrane]
SLC40A1 D181V [plasma membrane]
Modified Residues
Name
L-asparagine 144 replaced with L-histidine
Coordinate
144
PsiMod
L-histidine residue [MOD:00018]
A protein modification that effectively converts a source amino acid residue to an L-histidine.
L-asparagine removal [MOD:01633]
A protein modification that effectively removes or replaces an L-asparagine.
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
NP_055400.1
Guide to Pharmacology - Targets
1194
OpenTargets
ENSG00000138449
HPA
ENSG00000138449-SLC40A1
GeneCards
Q9NP59
ZINC target
Q9NP59
Ensembl
ENSG00000138449
,
ENST00000261024
,
ENSP00000261024
PRO
Q9NP59
Pharos - Targets
Q9NP59
Orphanet
15465
HMDB Protein
HMDBP02321
PDB
6WBV
,
8DL7
,
8C03
,
8DL6
,
6W4S
,
8DL8
,
8C02
,
8BZY
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P05067 APP
20
APP(18-770) [trans-Golgi network membrane]
(R-HSA-5229136)
APP-C99 [cytosol]
(R-HSA-9617603)
APP(18-770) [extracellular region]
(R-HSA-49335)
APP(18-770) [platelet alpha granule lumen]
(R-HSA-139835)
APP(18-687) [extracellular region]
(R-HSA-9010033)
APP(688-770) [plasma membrane]
(R-HSA-9010028)
APP(18-770) [Golgi lumen]
(R-HSA-8871509)
APP(18-770) [plasma membrane]
(R-HSA-9010038)
APP(18-671) [endosome lumen]
(R-HSA-5693003)
APP(714-770) [endosome lumen]
(R-HSA-6783325)
APP(712-770) [endosome lumen]
(R-HSA-6783331)
APP(672-770) [endosome lumen]
(R-HSA-9010082)
APP(672-713) [endosome lumen]
(R-HSA-5692993)
APP(672-711) [endosome lumen]
(R-HSA-6783333)
APP(18-770) [endosome lumen]
(R-HSA-5229077)
p-APP [endoplasmic reticulum lumen]
(R-HSA-8957012)
APP [endoplasmic reticulum lumen]
(R-HSA-8956696)
APP(672-711) [extracellular region]
(R-HSA-976740)
APP(672-711) [cytosol]
(R-HSA-877188)
APP(672-713) [extracellular region]
(R-HSA-879340)
0.589
5
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