Reactome | SLC40A1 D181V [plasma membrane]

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

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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 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

0003190601

0103360035

11715788_a_at

11715789_a_at

16906419

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:0003674

GO:0005381

GO:0005515

GO:0005575

GO:0005622

GO:0005634

GO:0005654

GO:0005737

GO:0005829

GO:0005886

GO:0005887

GO:0006810

GO:0006811

GO:0006879

GO:0008150

GO:0015093

GO:0016020

GO:0016021

GO:0016323

GO:0017046

GO:0022857

GO:0034755

GO:0042592

GO:0043226

GO:0055072

GO:0055085

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 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-aspartic acid removal [MOD:01634]

A protein modification that effectively removes or replaces an L-aspartic acid.

L-valine residue [MOD:00029]

A protein modification that effectively converts a source amino acid residue to an L-valine.

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

ZINC target

Q9NP59

PRO

Q9NP59

GlyGen

Q9NP59

PDB

6W4S, 6WBV

GeneCards

Q9NP59

HPA

ENSG00000138449-SLC40A1

Ensembl

ENST00000261024, ENSG00000138449, ENSP00000261024

Pharos - Targets

Q9NP59

Orphanet

15465

HMDB Protein

HMDBP02321

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P05067 APP	20	APP(672-711) [extracellular region] (R-HSA-976740) APP-C99 [cytosol] (R-HSA-9617603) APP(672-711) [cytosol] (R-HSA-877188) APP(18-770) [Golgi lumen] (R-HSA-8871509) APP [endoplasmic reticulum lumen] (R-HSA-8956696) APP(712-770) [endosome lumen] (R-HSA-6783331) APP(672-770) [endosome lumen] (R-HSA-9010082) APP(714-770) [endosome lumen] (R-HSA-6783325) APP(18-770) [plasma membrane] (R-HSA-9010038) APP(688-770) [plasma membrane] (R-HSA-9010028) p-APP [endoplasmic reticulum lumen] (R-HSA-8957012) APP(18-671) [endosome lumen] (R-HSA-5693003) APP(18-770) [endosome lumen] (R-HSA-5229077) APP(18-770) [extracellular region] (R-HSA-49335) APP(18-687) [extracellular region] (R-HSA-9010033) APP(672-713) [endosome lumen] (R-HSA-5692993) APP(672-711) [endosome lumen] (R-HSA-6783333) APP(18-770) [platelet alpha granule lumen] (R-HSA-139835) APP(18-770) [trans-Golgi network membrane] (R-HSA-5229136) APP(672-713) [extracellular region] (R-HSA-879340)	0.589	5