SLC46A1 - solute carrier family 46 member 1 Gene

Homo sapiens

Also known as G21; HCP1; PCFT; hPCFT; HsPCFT

Gene ID: 113235 | Gene type: protein coding

About SLC46A1

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:28,394,642-28,406,592 (from NCBI)

This gene has 9 transcripts (splice variants), 205 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in duodenum (RPKM 45.1), small intestine (RPKM 21.0) and 22 other tissues.

Summary

This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and Antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]

SLC46A1 Products(2)

mRNA	Protein	Name
NM_001242366.3	NP_001229295.1	proton-coupled folate transporter isoform 2
NM_080669.6	NP_542400.2	proton-coupled folate transporter isoform 1

SLC46A1 Protein Structure

MFS_1

0
100
200
300
400
459 a.a.

Protein Preferred Names

Protein Names

proton-coupled folate transporter

heme carrier protein 1

Related Diseases

Diseases

Alias

Folate Malabsorption, Hereditary

Hereditary Folate Malabsorption	Congenital Defect Of Folate Absorption
Congenital Folate Malabsorption	Folic Acid Transport Defect
HFM

Folic Acid Deficiency Anemia

Folate Deficiency Anaemia	Folic Acid Deficiency Anaemia
Folate Deficiency Anemia	Folate-Deficiency Anaemia
Folate-Deficiency Anemia	Folate-Deficient Megaloblastic Anaemia
Megaloblastic Anemia Due To Folate Deficiency	Anaemia Of Folate Deficiency
Folate Or Folic Acid Deficiency Anaemia Nos	Folic Acid Deficiency Anaemia Nos
Acquired Megaloblastic Anaemia Due To Nutritional Folate Deficiency	Dietary Folic Acid Deficiency Anaemia
Dietary Folate Deficiency Anaemia	Folate Deficiency Anaemia Due To Dietary Causes
Goat'S Milk Anaemia	Acquired Megaloblastic Anaemia Due To Folate Deficiency Secondary To Increased Requirement
Megaloblastic Anaemia Due To Increased Requirements Of Folate	Acquired Megaloblastic Anaemia Due To Folate Deficiency Secondary To Intestinal Disorders
Acquired Megaloblastic Anaemia Due To Decreased Intestinal Absorption Of Folate	Megaloblastic Anaemia Due To Decreased Intestinal Absorption Of Folate

Vitamin Metabolic Disorder

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Thiamine Metabolism Dysfunction Syndrome 2

Biotin-Responsive Basal Ganglia Disease	Basal Ganglia Disease, Biotin-Responsive
THMD2	Bbgd
Btbgd	Encephalopathy, Thiamine-Responsive
Thiamine Metabolism Dysfunction Syndrome 2, Biotin- Or Thiamine-Responsive Type	Thiamine-Responsive Encephalopathy

Pancytopenia

Choriocarcinoma Of The Testis

Testicular Choriocarcinoma

Tropical Sprue

Tropical Steatorrhea	Tropical Enteropathy
Sprue, Tropical	Sprue - Tropical
Idiopathic Tropical Malabsorption Syndrome	Tropical Steatorrhoea
Tropical Diarrhoea	Ts - [Tropical Sprue]
Psilosis	Sprue Nos

Subacute Leukemia

Megaloblastic Anemia

Imerslund-Grasbeck Syndrome	Igs
Defect Of Enterocyte Intrinsic Factor Receptor	Enterocyte Cobalamin Malabsorption
Familial Megaloblastic Anemia	Megaloblastic Anemia 1
Selective Cobalamin Malabsorption With Proteinuria	Imerslund-Gräsbeck Syndrome
Anemia, Megaloblastic	Grasbeck-Imerslund Syndrome
Megaloblastic Anaemia	Mga1 Norwegian Type
Recessive Hereditary Megaloblastic Anaemia 1	Recessive Hereditary Megaloblastic Anemia 1
Rh-Mga1	Gräsbeck-Imerslund Disease
Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria	Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12
Anemia Megaloblastic	Megaloblastic Anemia Due To Inborn Errors Of Metabolism
3-@Methylglutaconic Aciduria, Type I

Charcot-Marie-Tooth Disease, Axonal, Type 2dd

CMT2DD	Charcot-Marie-Tooth Neuropathy, Type 2dd
Charcot-Marie-Tooth Disease Type 2dd	Atp1a1-Related Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Atp1a1-Related Cmt2	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2dd
Charcot-Marie-Tooth Disease 2dd

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

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

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13260	SLC46A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SLC46A1	VGNC	VGNC:34884
Mus musculus	SLC46A1	MGD	MGI:1098733
Felis catus	SLC46A1	VGNC	VGNC:65379
Rattus norvegicus	SLC46A1	RGD	RGD:1309472
Canis familiaris	SLC46A1	VGNC	VGNC:46426
Macaca mulatta	SLC46A1	VGNC	VGNC:77797
Others	SLC46A1	NCBI

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