SLC40A1 - solute carrier family 40 member 1 Gene

Homo sapiens

Also known as FPN1; HFE4; MTP1; IREG1; MST079; MSTP079; SLC11A3

Gene ID: 30061 | Gene type: protein coding

About SLC40A1

Cytogenetic location: 2q32.2 Genomic coordinates (GRCh38): 2:189,560,590-189,580,786 (from NCBI)

This gene has 7 transcripts (splice variants), 211 orthologues and is associated with 3 phenotypes. Broad expression in spleen (RPKM 192.7), ovary (RPKM 171.6) and 22 other tissues.

Summary

The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]

SLC40A1 Products(2)

mRNA	Protein	Name
XM_047444066.1	XP_047300022.1	solute carrier family 40 member 1 isoform X1
NM_014585.6	NP_055400.1	solute carrier family 40 member 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ferrous iron transmembrane transporter activity	IDA IDA: Inferred from direct assay	15692071	GOA
enables iron ion transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	12091367	GOA
enables peptide hormone binding	IDA IDA: Inferred from direct assay	29237594	GOA
enables peptide hormone binding	IPI IPI: Inferred from physical interaction	22682227	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20817278	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in intracellular iron ion homeostasis	IMP IMP: Inferred from mutant phenotype	12091367	GOA
involved in iron ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	12091367	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in basolateral plasma membrane	IDA IDA: Inferred from direct assay	10882071	GOA
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	20019163	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	20019163	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC40A1 Protein Structure

FPN1

0
100
200
300
400
500
571 a.a.

Protein Preferred Names

Protein Names

solute carrier family 40 member 1

iron regulated gene 1	solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3
solute carrier family 40 (iron-regulated transporter), member 1

Related Diseases

Diseases

Alias

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Microcytic Anemia

Iron-Refractory Iron Deficiency Anemia

Hemochromatosis, Type 1

Hemochromatosis	Hemochromatosis Type 1
Hereditary Hemochromatosis	Hh
HFE1	Hfe Hemochromatosis, Modifier Of
Symptomatic Form Of Classic Hemochromatosis	Symptomatic Form Of Hemochromatosis Type 1
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis	Haemochromatosis
Iron Storage Disorder	Bronze Diabetes
Hlah	Hfe
Hemochromatosis, Hereditary	Diabetes Bronze
Classic Hemochromatosis	Hfe-Associated Hereditary Hemochromatosis
Hemochromatosis Classic	Bronzed Cirrhosis
Familial Hemochromatosis	Genetic Hemochromatosis
Hc	Hereditary Haemochromatosis
Pigmentary Cirrhosis	Primary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome	Von Recklenhausen-Applebaum Disease
Hemochromatosis 1	Primary Hereditary Hemochromatosis
Bronze Cirrhosis

Hemochromatosis, Type 3

Hemochromatosis Type 3	HFE3
Hemochromatosis Due To Defect In Transferrin Receptor 2	Tfr2-Related Hemochromatosis
Tfr2-Related Hereditary Hemochromatosis	Hemochromatosis 3

Rare Hereditary Hemochromatosis

Iron Overload	Iron Overload Disease
Idiopathic Haemosiderosis	Hemosiderosis

Hemochromatosis, Type 4

Hemochromatosis Type 4	Hemochromatosis Due To Defect In Ferroportin
HFE4	Hemochromatosis, Autosomal Dominant
Autosomal Dominant Hereditary Hemochromatosis	Ferroportin Disease
Hemochromatosis 4	Hemochromatosis Autosomal Dominant

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

Siderosis

Pulmonary Siderosis	Deposition Of Iron
Arc-Welders' Disease	Arc-Welders' Lung
Arc-Welders' Nodulation	Arc-Welders' Pneumoconiosis
Iron Oxide Lung	Iron Pneumoconiosis
Pneumoconiosis Siderotico	Siderotic Lung Disease
Steel Grinders' Disease	Welders' Lung
Welders' Siderosis	Lung Fibrosis With Siderosis

Tendinitis

Tendinopathy

Liver Disease

Liver Failure	Liver Diseases
Abnormality Of The Liver	Liver Dysfunction
Disorder Of Liver	Hepatic Disorder
Hepatic Disease	Disease Of Bilirubin Metabolism
Disorder Of Bilirubin Metabolism	Liver Decompensation
Liver Function Failure	Hepatic Failure Nos
Liver Failure Nos	End Stage Liver Disease
Decompensated Liver Failure	Decompensation Of Liver Function
Hepatic Decompensation	Hepatic Insufficiency
Liver Cell Necrosis With Hepatic Failure	Liver Insufficiency
Decompensated Liver Disease	End Stage Liver Failure
Liver Necrosis With Hepatic Failure

Hyperferritinemia With Or Without Cataract

Hyperferritinemia-Cataract Syndrome	Hhcs
Hereditary Hyperferritinemia With Congenital Cataracts	Hyperferritinemia, Hereditary, With Congenital Cataracts
Bonneau-Beaumont Syndrome	HRFTC
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract-Hyperferritinemia Syndrome
Hyperferritinemia Cataract Syndrome	Hereditary Hyperferritinemia Cataract Syndrome

Atransferrinemia

Familial Hypotransferrinemia	Congenital Atransferrinemia
Hypotransferrinemia, Familial	Congenital Hypotransferrinemia
ATRAF

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

Hypogonadotropic Hypogonadism

Klinefelter Syndrome	Klinefelter'S Syndrome
Xxy Syndrome	Xxy Trisomy
Hypogonadotropism	47, Xxy
Congenital Idiopathic Hypogonadotropic Hypogonadism	Isolated Congenital Gonadotropin Deficiency
47,Xxy Syndrome	47, Xxy Syndrome
Klinefelters Syndrome	Hypogonadism
Klinefelter Syndrome In Males	Klinefelter Syndrome, Unspecified
Klinefelter Syndrome Karyotype 47, Xxy

Iron Metabolism Disease

Iron Deficiency	Iron Disorder
Iron Metabolism Disorders	Disorder Of Iron Metabolism
Iron	Fe Deficiency
Iron Storage Disease	Iron Storage Disorder

Beta-Thalassemia Major

Cooley'S Anemia	Cooley Anemia
Mediterranean Anemia

Tenosynovitis

Inflammation Of Tendon Sheath

Synovitis Or Tenosynovitis

Hypochromic Microcytic Anemia

Anemia, Hypochromic Microcytic

Microcytic Hypochromic Anemia

Porphyria

Hematoporphyria	Porphyrias
Disorder Of Porphyrin And Hem Metabolism	Disorder Of Porphyrin Metabolism
Porphyrinopathy	Porphyrin Disorder
Disorder Of Porphyrin And Heme Metabolism	Disorders Of Porphyrin Metabolism

Iron Deficiency Anemia

Iron-Deficiency Anemia	Fe Deficiency Anaemia
Ida - [Iron Deficiency Anemia]	Fe - [Iron] Deficiency Anemia Nos

Iron Overload In Africa

African Iron Overload	Bantu Siderosis
African Hemochromatosis	Hereditary Iron Overload And African Americans
African Nutritional Hemochromatosis	African Siderosis

Hemosiderosis

Haemosiderosis

Iron Overload

Hemochromatosis Type 2

Juvenile Hemochromatosis	Juvenile Hereditary Hemochromatosis
Hfe2	Jhh
Hemochromatosis Juvenile	Iron Overload Disease Juvenile
Hemochromatosis, Juvenile	Hemochromatosis, Type 2
Hemochromatosis	Hemochromatosis, Type 1

Anemia, Sideroblastic, 1

Xlsa	X-Linked Sideroblastic Anemia
Anh1	Hereditary Iron-Loading Anemia
Hypochromic Anemia	Anemia, Sideroblastic, X-Linked
Erythroid 5-Aminolevulinate Synthase Deficiency	Hereditary Sideroblastic Anemia
SIDBA1	Anemia, Hypochromic
Anemia, Hereditary Sideroblastic	Sideroblastic Anemia 1
Anemia Hypochromic	X Chromosome-Linked Sideroblastic Anemia
Sideroblastic Anaemia 1	X-Linked Sideroblastic Anaemia
Anemia Hereditary Sideroblastic	Anemia Sex-Linked Hypochromic Sideroblastic
Congenital Sideroblastic Anemia	Sideroblastic Anemia X-Linked
Anemia, Sex-Linked Hypochromic Sideroblastic	Congenital Sideroblastic Anaemia
X-Linked Pyridoxine-Responsive Sideroblastic Anemia	Anemia Congenital Sideroblastic
Anemia, Sideroblastic, Type 1	Sex-Linked Hypochromic Sideroblastic Anaemia
Autosomal Recessive Sideroblastic Anaemia	Familial Sex Linked Hypochromic Anaemia

Hypermanganesemia With Dystonia

Familial Manganese-Induced Neurotoxicity

Hmndyt

Porphyria Cutanea Tarda

Hepatoerythropoietic Porphyria	HEP
Uroporphyrinogen Decarboxylase Deficiency	Pct
Pct, Type Ii	Porphyria, Hepatocutaneous Type
Urod Deficiency	Porphyria, Hepatoerythropoietic
Porphyria Cutanea Tarda, Susceptibility To	Familial Porphyria Cutanea Tarda
Porphyria Cutanea Tarda, Type Ii	Pct, 'Familial' Type
Porphyria, Hepatic	FPCT
Pct Type Ii	Porphyria Cutanea Tarda Type Ii
Porphyria Hepatocutaneous Type	Heterozygous Uroporphyrinogen Decarboxylase Deficiency
Urod - [Uroporphyrinogen Decarboxylase] Deficiency	Pct - [Porphyria Cutanea Tarda]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13243	SLC40A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS13244	Slc40a1 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS13245	SLC40A1 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SLC40A1	VGNC	VGNC:65367
Macaca mulatta	SLC40A1	VGNC	VGNC:77384
Mus musculus	SLC40A1	MGD	MGI:1315204
Canis familiaris	SLC40A1	VGNC	VGNC:46411
Bos taurus	SLC40A1	VGNC	VGNC:34872
Rattus norvegicus	SLC40A1	RGD	RGD:620180
Others	SLC40A1	NCBI

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