SLC40A1 - solute carrier family 40 member 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 30061

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	References	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	References	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	References	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

SLC40A1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SLC40A1	Q9NP59	APP	Homo sapiens	P05067	Anti Bait CoIP	20817278

Cross: Cross-species interaction Intra: Intraspecies interaction

SLC40A1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81218	SLC40A1 Antibody	WB	Human

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P990618	LY2928057	Inhibitor	99.9%	Phase 1

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 Set	/	Unkown
HY-RS13244	Slc40a1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13245	SLC40A1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P990510	Anti-SLC40A1 Antibody		/	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