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Entry version 161 (29 Sep 2021)
Sequence version 1 (01 Dec 2001)
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Protein

Proton-coupled folate transporter

Gene

SLC46A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Proton-coupled high-affinity folate and heme transporter that plays an essential role in iron metabolism (PubMed:30858177, PubMed:32621820).

Acts as the main importer of heme in the intestine. Imports also heme in the retina and retinal pigment epithelium, in neurons of the hippocampus, and in the renal epithelial cells (By similarity).

Participates therefore in the trafficking of heme and increases intracellular iron content. Mediates also intestinal absorption of folates and their transport from blood to cerebrospinal fluid across the choroid plexus (PubMed:17129779, PubMed:17156779, PubMed:17446347, PubMed:17475902, PubMed:27251438).

By similarity7 Publications

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=1.3 µM for folic acid (at pH 5.5)2 Publications
  2. KM=1.5 µM for folic acid (at pH 6.0)2 Publications
  3. KM=2.7 µM for folic acid (at pH 6.5)2 Publications
  4. KM=6.0 µM for folic acid (at pH 7.0)2 Publications
  5. KM=56.2 µM for folic acid (at pH 7.5)2 Publications

pH dependencei

Optimum pH is 4.0-5.5. Activity decreases above pH 5.5 and reaches negligible levels at neutral pH and above.2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processTransport
LigandFolate-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q96NT5

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-196757, Metabolism of folate and pterines
R-HSA-917937, Iron uptake and transport
R-HSA-9707616, Heme signaling

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q96NT5

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.1.50.1, the major facilitator superfamily (mfs)

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Proton-coupled folate transporter
Alternative name(s):
G21
Heme carrier protein 1
PCFT/HCP1
Solute carrier family 46 member 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC46A1
Synonyms:HCP1, PCFT
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30521, SLC46A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611672, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96NT5

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000076351

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 24CytoplasmicSequence analysisAdd BLAST24
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei25 – 48HelicalSequence analysisAdd BLAST24
Topological domaini49 – 84ExtracellularSequence analysisAdd BLAST36
Transmembranei85 – 107HelicalSequence analysisAdd BLAST23
Topological domaini108 – 113CytoplasmicSequence analysis6
Transmembranei114 – 137HelicalSequence analysisAdd BLAST24
Topological domaini138 – 145ExtracellularSequence analysis8
Transmembranei146 – 168HelicalSequence analysisAdd BLAST23
Topological domaini169 – 180CytoplasmicSequence analysisAdd BLAST12
Transmembranei181 – 203HelicalSequence analysisAdd BLAST23
Topological domaini204 – 212ExtracellularSequence analysis9
Transmembranei213 – 236HelicalSequence analysisAdd BLAST24
Topological domaini237 – 265CytoplasmicSequence analysisAdd BLAST29
Transmembranei266 – 288HelicalSequence analysisAdd BLAST23
Topological domaini289 – 309ExtracellularSequence analysisAdd BLAST21
Transmembranei310 – 328HelicalSequence analysisAdd BLAST19
Topological domaini329 – 331CytoplasmicSequence analysis3
Transmembranei332 – 356HelicalSequence analysisAdd BLAST25
Topological domaini357 – 359ExtracellularSequence analysis3
Transmembranei360 – 381HelicalSequence analysisAdd BLAST22
Topological domaini382 – 393CytoplasmicSequence analysisAdd BLAST12
Transmembranei394 – 412HelicalSequence analysisAdd BLAST19
Topological domaini413 – 424ExtracellularSequence analysisAdd BLAST12
Transmembranei425 – 449HelicalSequence analysisAdd BLAST25
Topological domaini450 – 459CytoplasmicSequence analysis10

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hereditary folate malabsorption (HFM)6 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionRare autosomal recessive disorder characterized by impaired intestinal folate absorption with folate deficiency resulting in anemia, hypoimmunoglobulinemia with recurrent infections, and recurrent or chronic diarrhea. In many patients, neurological abnormalities such as seizures or mental retardation become apparent during early childhood, attributed to impaired transport of folates into the central nervous system. When diagnosed early, the disorder can be treated by administration of folate. If untreated, it can be fatal and, if treatment is delayed, the neurological defects can become permanent.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_058210113R → C in HFM; loss-of-function mutation; targeted to the plasma membrane but has significantly impaired folate transport activity. 1 PublicationCorresponds to variant dbSNP:rs80338770EnsemblClinVar.1
Natural variantiVAR_032825113R → S in HFM; abolishes folate uptake. 1 PublicationCorresponds to variant dbSNP:rs80338770EnsemblClinVar.1
Natural variantiVAR_032826147G → R in HFM; reduces folate uptake to 13% of normal levels. 1 PublicationCorresponds to variant dbSNP:rs80338771EnsemblClinVar.1
Natural variantiVAR_067960156D → Y in HFM; loss of function measured as methotrexate uptake. 1 PublicationCorresponds to variant dbSNP:rs281875210EnsemblClinVar.1
Natural variantiVAR_032827318S → R in HFM; abolishes folate uptake. 1 PublicationCorresponds to variant dbSNP:rs80338772EnsemblClinVar.1
Natural variantiVAR_067961335A → D in HFM; loss of function measured as methotrexate uptake. 1 PublicationCorresponds to variant dbSNP:rs281875208EnsemblClinVar.1
Natural variantiVAR_067962338G → R in HFM; loss of function measured as methotrexate uptake. 1 PublicationCorresponds to variant dbSNP:rs281875209EnsemblClinVar.1
Natural variantiVAR_067963376R → Q in HFM; abolishes folate uptake. 1 PublicationCorresponds to variant dbSNP:rs281875211EnsemblClinVar.1
Natural variantiVAR_032828376R → W in HFM; abolishes folate uptake. 1 PublicationCorresponds to variant dbSNP:rs80338773EnsemblClinVar.1
Natural variantiVAR_032829425P → R in HFM; reduces folate uptake to 3.5% of normal levels. 1 PublicationCorresponds to variant dbSNP:rs80338774EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi109D → A, G, E, K, N or S: Loss of methotrexate uptake. 1 Publication1
Mutagenesisi109D → A: Complete loss of transport function. 1 Publication1
Mutagenesisi156D → E: Does not affect methotrexate uptake. 1 Publication1
Mutagenesisi156D → F, K, N, V or W: Loss of methotrexate uptake. 1 Publication1
Mutagenesisi156D → G: 2-fold reduction of methotrexate uptake. 1 Publication1
Mutagenesisi156D → S: 8-fold reduction of methotrexate uptake. 1 Publication1
Mutagenesisi299W → C: About 90% loss of transport function. 1 Publication1
Mutagenesisi376R → A, C, E, H, Q or W: Abolishes folate uptake. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...
DisGeNETi
113235

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
SLC46A1

MalaCards human disease database

More...
MalaCardsi
SLC46A1
MIMi229050, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000076351

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90045, Hereditary folate malabsorption

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162403775

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96NT5, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1795188

Drug and drug target database

More...
DrugBanki
DB08878, Aminopterin
DB00158, Folic acid
DB11256, Levomefolic acid
DB00563, Methotrexate
DB00795, Sulfasalazine

DrugCentral

More...
DrugCentrali
Q96NT5

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
1213

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC46A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74732636

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000848511 – 459Proton-coupled folate transporterAdd BLAST459

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei6PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi58N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi68N-linked (GlcNAc...) asparagine1 Publication1
Modified residuei458PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96NT5

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96NT5

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96NT5

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q96NT5

PeptideAtlas

More...
PeptideAtlasi
Q96NT5

PRoteomics IDEntifications database

More...
PRIDEi
Q96NT5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
77556 [Q96NT5-1]
77557 [Q96NT5-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q96NT5, 2 sites

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96NT5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q96NT5

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q96NT5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in kidney, liver, placenta, small intestine, spleen, retina and retinal pigment epithelium. Lower levels found in colon and testis. Very low levels in brain, lung, stomach, heart and muscle. In intestine, expressed in duodenum with lower levels in jejunum, ileum, cecum, rectum and segments of the colon.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000076351, Expressed in duodenum and 178 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96NT5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96NT5, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000076351, Tissue enhanced (intestine)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
125236, 4 interactors

Protein interaction database and analysis system

More...
IntActi
Q96NT5, 4 interactors

Molecular INTeraction database

More...
MINTi
Q96NT5

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000480703

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q96NT5

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q96NT5, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2816, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000183096

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96NT5

Identification of Orthologs from Complete Genome Data

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OMAi
WDSRLIG

Database of Orthologous Groups

More...
OrthoDBi
17940at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96NT5

TreeFam database of animal gene trees

More...
TreeFami
TF315701

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.1250.20, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011701, MFS
IPR020846, MFS_dom
IPR036259, MFS_trans_sf
IPR005829, Sugar_transporter_CS

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07690, MFS_1, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF103473, SSF103473, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50850, MFS, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96NT5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEGSASPPEK PRARPAAAVL CRGPVEPLVF LANFALVLQG PLTTQYLWHR
60 70 80 90 100
FSADLGYNGT RQRGGCSNRS ADPTMQEVET LTSHWTLYMN VGGFLVGLFS
110 120 130 140 150
STLLGAWSDS VGRRPLLVLA SLGLLLQALV SVFVVQLQLH VGYFVLGRIL
160 170 180 190 200
CALLGDFGGL LAASFASVAD VSSSRSRTFR MALLEASIGV AGMLASLLGG
210 220 230 240 250
HWLRAQGYAN PFWLALALLI AMTLYAAFCF GETLKEPKST RLFTFRHHRS
260 270 280 290 300
IVQLYVAPAP EKSRKHLALY SLAIFVVITV HFGAQDILTL YELSTPLCWD
310 320 330 340 350
SKLIGYGSAA QHLPYLTSLL ALKLLQYCLA DAWVAEIGLA FNILGMVVFA
360 370 380 390 400
FATITPLMFT GYGLLFLSLV ITPVIRAKLS KLVRETEQGA LFSAVACVNS
410 420 430 440 450
LAMLTASGIF NSLYPATLNF MKGFPFLLGA GLLLIPAVLI GMLEKADPHL

EFQQFPQSP
Length:459
Mass (Da):49,771
Last modified:December 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i119F89E9E4ACA5F4
GO
Isoform 2 (identifier: Q96NT5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     361-388: Missing.

Note: Inactive isoform which results in impaired folate absorption, giving rise to hereditary folate malabsorption (HFM).Curated
Show »
Length:431
Mass (Da):46,644
Checksum:iEE81E0C20CF70C00
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QL21J3QL21_HUMAN
Proton-coupled folate transporter
SLC46A1
124Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QRF7J3QRF7_HUMAN
Proton-coupled folate transporter
SLC46A1
250Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EPJ7K7EPJ7_HUMAN
Proton-coupled folate transporter
SLC46A1
128Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KTE6J3KTE6_HUMAN
Proton-coupled folate transporter
SLC46A1
32Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti394A → G in BAB84987 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058210113R → C in HFM; loss-of-function mutation; targeted to the plasma membrane but has significantly impaired folate transport activity. 1 PublicationCorresponds to variant dbSNP:rs80338770EnsemblClinVar.1
Natural variantiVAR_032825113R → S in HFM; abolishes folate uptake. 1 PublicationCorresponds to variant dbSNP:rs80338770EnsemblClinVar.1
Natural variantiVAR_032826147G → R in HFM; reduces folate uptake to 13% of normal levels. 1 PublicationCorresponds to variant dbSNP:rs80338771EnsemblClinVar.1
Natural variantiVAR_067960156D → Y in HFM; loss of function measured as methotrexate uptake. 1 PublicationCorresponds to variant dbSNP:rs281875210EnsemblClinVar.1
Natural variantiVAR_050302295T → A. Corresponds to variant dbSNP:rs34552966EnsemblClinVar.1
Natural variantiVAR_032827318S → R in HFM; abolishes folate uptake. 1 PublicationCorresponds to variant dbSNP:rs80338772EnsemblClinVar.1
Natural variantiVAR_067961335A → D in HFM; loss of function measured as methotrexate uptake. 1 PublicationCorresponds to variant dbSNP:rs281875208EnsemblClinVar.1
Natural variantiVAR_067962338G → R in HFM; loss of function measured as methotrexate uptake. 1 PublicationCorresponds to variant dbSNP:rs281875209EnsemblClinVar.1
Natural variantiVAR_067963376R → Q in HFM; abolishes folate uptake. 1 PublicationCorresponds to variant dbSNP:rs281875211EnsemblClinVar.1
Natural variantiVAR_032828376R → W in HFM; abolishes folate uptake. 1 PublicationCorresponds to variant dbSNP:rs80338773EnsemblClinVar.1
Natural variantiVAR_032829425P → R in HFM; reduces folate uptake to 3.5% of normal levels. 1 PublicationCorresponds to variant dbSNP:rs80338774EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_016053361 – 388Missing in isoform 2. 2 PublicationsAdd BLAST28

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AK054669 mRNA Translation: BAB70789.1
AK074161 mRNA Translation: BAB84987.1
DQ496103 Genomic DNA Translation: ABF47092.1
BC010691 mRNA Translation: AAH10691.1
AL832613 mRNA Translation: CAD89945.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS74019.1 [Q96NT5-2]
CCDS74020.1 [Q96NT5-1]

NCBI Reference Sequences

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RefSeqi
NP_001229295.1, NM_001242366.2 [Q96NT5-2]
NP_542400.2, NM_080669.5 [Q96NT5-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000612814; ENSP00000480703; ENSG00000076351 [Q96NT5-1]
ENST00000618626; ENSP00000483652; ENSG00000076351 [Q96NT5-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
113235

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:113235

UCSC genome browser

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UCSCi
uc032ezi.2, human [Q96NT5-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Mendelian genes solute carrier family 46 (folate transporter), member 1 (SLC46A1)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK054669 mRNA Translation: BAB70789.1
AK074161 mRNA Translation: BAB84987.1
DQ496103 Genomic DNA Translation: ABF47092.1
BC010691 mRNA Translation: AAH10691.1
AL832613 mRNA Translation: CAD89945.1
CCDSiCCDS74019.1 [Q96NT5-2]
CCDS74020.1 [Q96NT5-1]
RefSeqiNP_001229295.1, NM_001242366.2 [Q96NT5-2]
NP_542400.2, NM_080669.5 [Q96NT5-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi125236, 4 interactors
IntActiQ96NT5, 4 interactors
MINTiQ96NT5
STRINGi9606.ENSP00000480703

Chemistry databases

BindingDBiQ96NT5
ChEMBLiCHEMBL1795188
DrugBankiDB08878, Aminopterin
DB00158, Folic acid
DB11256, Levomefolic acid
DB00563, Methotrexate
DB00795, Sulfasalazine
DrugCentraliQ96NT5
GuidetoPHARMACOLOGYi1213

Protein family/group databases

TCDBi2.A.1.50.1, the major facilitator superfamily (mfs)

PTM databases

GlyGeniQ96NT5, 2 sites
iPTMnetiQ96NT5
PhosphoSitePlusiQ96NT5
SwissPalmiQ96NT5

Genetic variation databases

BioMutaiSLC46A1
DMDMi74732636

Proteomic databases

jPOSTiQ96NT5
MassIVEiQ96NT5
MaxQBiQ96NT5
PaxDbiQ96NT5
PeptideAtlasiQ96NT5
PRIDEiQ96NT5
ProteomicsDBi77556 [Q96NT5-1]
77557 [Q96NT5-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
26300, 116 antibodies

The DNASU plasmid repository

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DNASUi
113235

Genome annotation databases

EnsembliENST00000612814; ENSP00000480703; ENSG00000076351 [Q96NT5-1]
ENST00000618626; ENSP00000483652; ENSG00000076351 [Q96NT5-2]
GeneIDi113235
KEGGihsa:113235
UCSCiuc032ezi.2, human [Q96NT5-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
113235
DisGeNETi113235

GeneCards: human genes, protein and diseases

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GeneCardsi
SLC46A1
GeneReviewsiSLC46A1
HGNCiHGNC:30521, SLC46A1
HPAiENSG00000076351, Tissue enhanced (intestine)
MalaCardsiSLC46A1
MIMi229050, phenotype
611672, gene
neXtProtiNX_Q96NT5
OpenTargetsiENSG00000076351
Orphaneti90045, Hereditary folate malabsorption
PharmGKBiPA162403775
VEuPathDBiHostDB:ENSG00000076351

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2816, Eukaryota
GeneTreeiENSGT00950000183096
InParanoidiQ96NT5
OMAiWDSRLIG
OrthoDBi17940at2759
PhylomeDBiQ96NT5
TreeFamiTF315701

Enzyme and pathway databases

PathwayCommonsiQ96NT5
ReactomeiR-HSA-196757, Metabolism of folate and pterines
R-HSA-917937, Iron uptake and transport
R-HSA-9707616, Heme signaling
SIGNORiQ96NT5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
113235, 5 hits in 211 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
SLC46A1, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SLC46A1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
113235
PharosiQ96NT5, Tchem

Protein Ontology

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PROi
PR:Q96NT5
RNActiQ96NT5, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000076351, Expressed in duodenum and 178 other tissues
ExpressionAtlasiQ96NT5, baseline and differential
GenevisibleiQ96NT5, HS

Family and domain databases

Gene3Di1.20.1250.20, 1 hit
InterProiView protein in InterPro
IPR011701, MFS
IPR020846, MFS_dom
IPR036259, MFS_trans_sf
IPR005829, Sugar_transporter_CS
PfamiView protein in Pfam
PF07690, MFS_1, 1 hit
SUPFAMiSSF103473, SSF103473, 1 hit
PROSITEiView protein in PROSITE
PS50850, MFS, 1 hit

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPCFT_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96NT5
Secondary accession number(s): Q1HE20
, Q86T92, Q8TEG3, Q96FL0
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: December 1, 2001
Last modified: September 29, 2021
This is version 161 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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