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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

Has been shown to act both as an intestinal proton-coupled high-affinity folate transporter and as an intestinal heme transporter which mediates heme uptake from the gut lumen into duodenal epithelial cells. The iron is then released from heme and may be transported into the bloodstream. Dietary heme iron is an important nutritional source of iron. Shows a higher affinity for folate than heme.4 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

    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

    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

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000076351.12

    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

    <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

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    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 mutations 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.
    See also OMIM:229050
    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
    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
    Mutagenesisi376R → A, C, E, H, Q or W: Abolishes folate uptake. 1 Publication1

    Keywords - Diseasei

    Disease mutation

    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

    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
    DB00563 Methotrexate
    DB00795 Sulfasalazine

    IUPHAR/BPS Guide to PHARMACOLOGY

    More...
    GuidetoPHARMACOLOGYi
    1213

    Polymorphism and mutation databases

    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.<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

    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 human proteome resource

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

    PTM databases

    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 161 organ(s), highest expression level in duodenum

    CleanEx database of gene expression profiles

    More...
    CleanExi
    HS_SLC46A1

    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
    CAB011614

    <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, 2 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    Q96NT5, 2 interactors

    Molecular INTeraction database

    More...
    MINTi
    Q96NT5

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000395653

    Chemistry databases

    BindingDB database of measured binding affinities

    More...
    BindingDBi
    Q96NT5

    <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

    3D structure databases

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...
    ProteinModelPortali
    Q96NT5

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    <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
    ENOG410ZVCA LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000153642

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000054191

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG055334

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q96NT5

    KEGG Orthology (KO)

    More...
    KOi
    K14613

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    LSTQYLW

    Database of Orthologous Groups

    More...
    OrthoDBi
    EOG091G08MP

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q96NT5

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF315701

    Family and domain databases

    Conserved Domains Database

    More...
    CDDi
    cd06174 MFS, 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>.<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 'canonical' 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).
    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
    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>
    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>
    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:rs34552966Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<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

    More...
    EMBLi

    GenBank nucleotide sequence database

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    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

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

    NCBI Reference Sequences

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

    UniGene gene-oriented nucleotide sequence clusters

    More...
    UniGenei
    Hs.446689

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

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

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    113235

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:113235

    UCSC genome browser

    More...
    UCSCi
    uc032ezi.2 human [Q96NT5-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    <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]
    UniGeneiHs.446689

    3D structure databases

    ProteinModelPortaliQ96NT5
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi125236, 2 interactors
    IntActiQ96NT5, 2 interactors
    MINTiQ96NT5
    STRINGi9606.ENSP00000395653

    Chemistry databases

    BindingDBiQ96NT5
    ChEMBLiCHEMBL1795188
    DrugBankiDB08878 Aminopterin
    DB00158 Folic Acid
    DB00563 Methotrexate
    DB00795 Sulfasalazine
    GuidetoPHARMACOLOGYi1213

    Protein family/group databases

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

    PTM databases

    iPTMnetiQ96NT5
    PhosphoSitePlusiQ96NT5
    SwissPalmiQ96NT5

    Polymorphism and mutation databases

    DMDMi74732636

    Proteomic databases

    MaxQBiQ96NT5
    PaxDbiQ96NT5
    PeptideAtlasiQ96NT5
    PRIDEiQ96NT5
    ProteomicsDBi77556
    77557 [Q96NT5-2]

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    113235
    Structural Biology KnowledgebaseSearch...

    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

    More...
    CTDi
    113235
    DisGeNETi113235
    EuPathDBiHostDB:ENSG00000076351.12

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    SLC46A1
    GeneReviewsiSLC46A1

    H-Invitational Database, human transcriptome db

    More...
    H-InvDBi
    HIX0022189
    HGNCiHGNC:30521 SLC46A1
    HPAiCAB011614
    MalaCardsiSLC46A1
    MIMi229050 phenotype
    611672 gene
    neXtProtiNX_Q96NT5
    OpenTargetsiENSG00000076351
    Orphaneti90045 Hereditary folate malabsorption
    PharmGKBiPA162403775

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG2816 Eukaryota
    ENOG410ZVCA LUCA
    GeneTreeiENSGT00940000153642
    HOGENOMiHOG000054191
    HOVERGENiHBG055334
    InParanoidiQ96NT5
    KOiK14613
    OMAiLSTQYLW
    OrthoDBiEOG091G08MP
    PhylomeDBiQ96NT5
    TreeFamiTF315701

    Enzyme and pathway databases

    ReactomeiR-HSA-196757 Metabolism of folate and pterines
    R-HSA-917937 Iron uptake and transport
    SIGNORiQ96NT5

    Miscellaneous databases

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    SLC46A1

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

    More...
    GenomeRNAii
    113235

    Protein Ontology

    More...
    PROi
    PR:Q96NT5

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000076351 Expressed in 161 organ(s), highest expression level in duodenum
    CleanExiHS_SLC46A1
    ExpressionAtlasiQ96NT5 baseline and differential
    GenevisibleiQ96NT5 HS

    Family and domain databases

    CDDicd06174 MFS, 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

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    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: December 5, 2018
    This is version 143 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

    Complete proteome, Reference proteome

    Documents

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