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SLC46A1 - solute carrier family 46 member 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 113235

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables folic acid transmembrane transporter activity	IDA IDA: Inferred from direct assay	17129779	GOA
enables folic acid transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	19762432	GOA
enables folic acid:proton symporter activity	IDA IDA: Inferred from direct assay	19389703	GOA
NOT enables heme transmembrane transporter activity	IDA IDA: Inferred from direct assay	17129779	GOA
enables proton transmembrane transporter activity	IDA IDA: Inferred from direct assay	17129779	GOA
enables symporter activity	IDA IDA: Inferred from direct assay	17475902	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in folate import across plasma membrane	IDA IDA: Inferred from direct assay	19389703	GOA
involved in folate transmembrane transport	IMP IMP: Inferred from mutant phenotype	17129779	GOA
involved in folic acid transport	IDA IDA: Inferred from direct assay	17129779	GOA
involved in folic acid transport	IMP IMP: Inferred from mutant phenotype	31494288	GOA
involved in proton transmembrane transport	IDA IDA: Inferred from direct assay	17129779	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	17475902	GOA
is active in basolateral plasma membrane	IDA IDA: Inferred from direct assay	19074442	GOA
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	31791063	GOA
located in endosome	IDA IDA: Inferred from direct assay	19074442	GOA
is active in plasma membrane	IDA IDA: Inferred from direct assay	29344585	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	17129779	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

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

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 Set	/	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