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Q96NT5

- PCFT_HUMAN

UniProt

Q96NT5 - PCFT_HUMAN

Protein

Proton-coupled folate transporter

Gene

SLC46A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    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

    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

    GO - Molecular functioni

    1. folic acid binding Source: UniProtKB-KW
    2. folic acid transporter activity Source: UniProtKB
    3. heme transporter activity Source: Ensembl
    4. methotrexate transporter activity Source: Ensembl

    GO - Biological processi

    1. cellular iron ion homeostasis Source: Reactome
    2. folic acid metabolic process Source: Reactome
    3. folic acid transport Source: UniProtKB
    4. small molecule metabolic process Source: Reactome
    5. transmembrane transport Source: Reactome
    6. vitamin metabolic process Source: Reactome
    7. water-soluble vitamin metabolic process Source: Reactome

    Keywords - Biological processi

    Transport

    Keywords - Ligandi

    Folate-binding

    Enzyme and pathway databases

    ReactomeiREACT_11167. Metabolism of folate and pterines.
    REACT_25060. Iron uptake and transport.

    Protein family/group databases

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

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Proton-coupled folate transporter
    Alternative name(s):
    G21
    Heme carrier protein 1
    PCFT/HCP1
    Solute carrier family 46 member 1
    Gene namesi
    Name:SLC46A1
    Synonyms:HCP1, PCFT
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:30521. SLC46A1.

    Subcellular locationi

    Apical cell membrane; Multi-pass membrane protein. Cytoplasm By similarity
    Note: Localizes to the apical membrane of intestinal cells in iron-deficient cells, while it resides in the cytoplasm in iron-replete cells.By similarity

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProtKB
    2. brush border membrane Source: Ensembl
    3. cytoplasm Source: UniProtKB
    4. integral component of membrane Source: UniProtKB-KW
    5. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Cytoplasm, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Hereditary folate malabsorption (HFM) [MIM:229050]: Rare 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.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti113 – 1131R → C in HFM; loss-of-function mutation; targeted to the plasma membrane but has significantly impaired folate transport activity. 1 Publication
    Corresponds to variant rs80338770 [ dbSNP | Ensembl ].
    VAR_058210
    Natural varianti113 – 1131R → S in HFM; abolishes folate uptake. 1 Publication
    Corresponds to variant rs80338770 [ dbSNP | Ensembl ].
    VAR_032825
    Natural varianti147 – 1471G → R in HFM; reduces folate uptake to 13% of normal levels. 1 Publication
    Corresponds to variant rs80338771 [ dbSNP | Ensembl ].
    VAR_032826
    Natural varianti156 – 1561D → Y in HFM; loss of function measured as methotrexate uptake. 1 Publication
    Corresponds to variant rs281875210 [ dbSNP | Ensembl ].
    VAR_067960
    Natural varianti318 – 3181S → R in HFM; abolishes folate uptake. 1 Publication
    Corresponds to variant rs80338772 [ dbSNP | Ensembl ].
    VAR_032827
    Natural varianti335 – 3351A → D in HFM; loss of function measured as methotrexate uptake. 1 Publication
    Corresponds to variant rs281875208 [ dbSNP | Ensembl ].
    VAR_067961
    Natural varianti338 – 3381G → R in HFM; loss of function measured as methotrexate uptake. 1 Publication
    Corresponds to variant rs281875209 [ dbSNP | Ensembl ].
    VAR_067962
    Natural varianti376 – 3761R → Q in HFM; abolishes folate uptake. 1 Publication
    Corresponds to variant rs281875211 [ dbSNP | Ensembl ].
    VAR_067963
    Natural varianti376 – 3761R → W in HFM; abolishes folate uptake. 1 Publication
    Corresponds to variant rs80338773 [ dbSNP | Ensembl ].
    VAR_032828
    Natural varianti425 – 4251P → R in HFM; reduces folate uptake to 3.5% of normal levels. 1 Publication
    Corresponds to variant rs80338774 [ dbSNP | Ensembl ].
    VAR_032829

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi109 – 1091D → A, G, E, K, N or S: Loss of methotrexate uptake. 1 Publication
    Mutagenesisi156 – 1561D → E: Does not affect methotrexate uptake. 1 Publication
    Mutagenesisi156 – 1561D → F, K, N, V or W: Loss of methotrexate uptake. 1 Publication
    Mutagenesisi156 – 1561D → G: 2-fold reduction of methotrexate uptake. 1 Publication
    Mutagenesisi156 – 1561D → S: 8-fold reduction of methotrexate uptake. 1 Publication
    Mutagenesisi376 – 3761R → A, C, E, H, Q or W: Abolishes folate uptake. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi229050. phenotype.
    Orphaneti90045. Hereditary folate malabsorption.
    PharmGKBiPA162403775.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 459459Proton-coupled folate transporterPRO_0000084851Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication
    Glycosylationi58 – 581N-linked (GlcNAc...)1 Publication
    Modified residuei458 – 4581Phosphoserine1 Publication

    Keywords - PTMi

    Acetylation, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ96NT5.
    PaxDbiQ96NT5.
    PRIDEiQ96NT5.

    PTM databases

    PhosphoSiteiQ96NT5.

    Expressioni

    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

    ArrayExpressiQ96NT5.
    BgeeiQ96NT5.
    CleanExiHS_SLC46A1.
    GenevestigatoriQ96NT5.

    Organism-specific databases

    HPAiCAB011614.

    Interactioni

    Subunit structurei

    Monomer.1 Publication

    Protein-protein interaction databases

    BioGridi125236. 1 interaction.
    IntActiQ96NT5. 1 interaction.
    STRINGi9606.ENSP00000395653.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96NT5.
    SMRiQ96NT5. Positions 94-130.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei87 – 10721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei115 – 13521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei149 – 16921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei183 – 20321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei211 – 23121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei267 – 28721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei303 – 32523HelicalSequence AnalysisAdd
    BLAST
    Transmembranei337 – 35721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei359 – 37921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei390 – 41021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei423 – 44321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG306680.
    HOGENOMiHOG000054191.
    HOVERGENiHBG055334.
    InParanoidiQ96NT5.
    KOiK14613.
    OMAiQRGGCSN.
    PhylomeDBiQ96NT5.
    TreeFamiTF315701.

    Family and domain databases

    InterProiIPR011701. MFS.
    IPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    IPR005829. Sugar_transporter_CS.
    [Graphical view]
    PfamiPF07690. MFS_1. 1 hit.
    [Graphical view]
    SUPFAMiSSF103473. SSF103473. 1 hit.
    PROSITEiPS50850. MFS. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    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

    MEGSASPPEK PRARPAAAVL CRGPVEPLVF LANFALVLQG PLTTQYLWHR    50
    FSADLGYNGT RQRGGCSNRS ADPTMQEVET LTSHWTLYMN VGGFLVGLFS 100
    STLLGAWSDS VGRRPLLVLA SLGLLLQALV SVFVVQLQLH VGYFVLGRIL 150
    CALLGDFGGL LAASFASVAD VSSSRSRTFR MALLEASIGV AGMLASLLGG 200
    HWLRAQGYAN PFWLALALLI AMTLYAAFCF GETLKEPKST RLFTFRHHRS 250
    IVQLYVAPAP EKSRKHLALY SLAIFVVITV HFGAQDILTL YELSTPLCWD 300
    SKLIGYGSAA QHLPYLTSLL ALKLLQYCLA DAWVAEIGLA FNILGMVVFA 350
    FATITPLMFT GYGLLFLSLV ITPVIRAKLS KLVRETEQGA LFSAVACVNS 400
    LAMLTASGIF NSLYPATLNF MKGFPFLLGA GLLLIPAVLI GMLEKADPHL 450
    EFQQFPQSP 459
    Length:459
    Mass (Da):49,771
    Last modified:December 1, 2001 - v1
    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti394 – 3941A → G in BAB84987. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti113 – 1131R → C in HFM; loss-of-function mutation; targeted to the plasma membrane but has significantly impaired folate transport activity. 1 Publication
    Corresponds to variant rs80338770 [ dbSNP | Ensembl ].
    VAR_058210
    Natural varianti113 – 1131R → S in HFM; abolishes folate uptake. 1 Publication
    Corresponds to variant rs80338770 [ dbSNP | Ensembl ].
    VAR_032825
    Natural varianti147 – 1471G → R in HFM; reduces folate uptake to 13% of normal levels. 1 Publication
    Corresponds to variant rs80338771 [ dbSNP | Ensembl ].
    VAR_032826
    Natural varianti156 – 1561D → Y in HFM; loss of function measured as methotrexate uptake. 1 Publication
    Corresponds to variant rs281875210 [ dbSNP | Ensembl ].
    VAR_067960
    Natural varianti295 – 2951T → A.
    Corresponds to variant rs34552966 [ dbSNP | Ensembl ].
    VAR_050302
    Natural varianti318 – 3181S → R in HFM; abolishes folate uptake. 1 Publication
    Corresponds to variant rs80338772 [ dbSNP | Ensembl ].
    VAR_032827
    Natural varianti335 – 3351A → D in HFM; loss of function measured as methotrexate uptake. 1 Publication
    Corresponds to variant rs281875208 [ dbSNP | Ensembl ].
    VAR_067961
    Natural varianti338 – 3381G → R in HFM; loss of function measured as methotrexate uptake. 1 Publication
    Corresponds to variant rs281875209 [ dbSNP | Ensembl ].
    VAR_067962
    Natural varianti376 – 3761R → Q in HFM; abolishes folate uptake. 1 Publication
    Corresponds to variant rs281875211 [ dbSNP | Ensembl ].
    VAR_067963
    Natural varianti376 – 3761R → W in HFM; abolishes folate uptake. 1 Publication
    Corresponds to variant rs80338773 [ dbSNP | Ensembl ].
    VAR_032828
    Natural varianti425 – 4251P → R in HFM; reduces folate uptake to 3.5% of normal levels. 1 Publication
    Corresponds to variant rs80338774 [ dbSNP | Ensembl ].
    VAR_032829

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei361 – 38828Missing in isoform 2. 2 PublicationsVSP_016053Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    RefSeqiNP_001229295.1. NM_001242366.2. [Q96NT5-2]
    NP_542400.2. NM_080669.5. [Q96NT5-1]
    UniGeneiHs.446689.

    Genome annotation databases

    EnsembliENST00000440501; ENSP00000395653; ENSG00000076351. [Q96NT5-1]
    GeneIDi113235.
    KEGGihsa:113235.
    UCSCiuc002hbf.2. human. [Q96NT5-1]
    uc021ttr.1. human. [Q96NT5-2]

    Polymorphism databases

    DMDMi74732636.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

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

    Leiden Open Variation Database (LOVD)

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    RefSeqi NP_001229295.1. NM_001242366.2. [Q96NT5-2 ]
    NP_542400.2. NM_080669.5. [Q96NT5-1 ]
    UniGenei Hs.446689.

    3D structure databases

    ProteinModelPortali Q96NT5.
    SMRi Q96NT5. Positions 94-130.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125236. 1 interaction.
    IntActi Q96NT5. 1 interaction.
    STRINGi 9606.ENSP00000395653.

    Chemistry

    BindingDBi Q96NT5.
    ChEMBLi CHEMBL1795188.
    DrugBanki DB00158. Folic Acid.
    GuidetoPHARMACOLOGYi 1213.

    Protein family/group databases

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

    PTM databases

    PhosphoSitei Q96NT5.

    Polymorphism databases

    DMDMi 74732636.

    Proteomic databases

    MaxQBi Q96NT5.
    PaxDbi Q96NT5.
    PRIDEi Q96NT5.

    Protocols and materials databases

    DNASUi 113235.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000440501 ; ENSP00000395653 ; ENSG00000076351 . [Q96NT5-1 ]
    GeneIDi 113235.
    KEGGi hsa:113235.
    UCSCi uc002hbf.2. human. [Q96NT5-1 ]
    uc021ttr.1. human. [Q96NT5-2 ]

    Organism-specific databases

    CTDi 113235.
    GeneCardsi GC17M026721.
    GeneReviewsi SLC46A1.
    H-InvDB HIX0022189.
    HGNCi HGNC:30521. SLC46A1.
    HPAi CAB011614.
    MIMi 229050. phenotype.
    611672. gene.
    neXtProti NX_Q96NT5.
    Orphaneti 90045. Hereditary folate malabsorption.
    PharmGKBi PA162403775.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG306680.
    HOGENOMi HOG000054191.
    HOVERGENi HBG055334.
    InParanoidi Q96NT5.
    KOi K14613.
    OMAi QRGGCSN.
    PhylomeDBi Q96NT5.
    TreeFami TF315701.

    Enzyme and pathway databases

    Reactomei REACT_11167. Metabolism of folate and pterines.
    REACT_25060. Iron uptake and transport.

    Miscellaneous databases

    GeneWikii SLC46A1.
    GenomeRNAii 113235.
    NextBioi 78800.
    PROi Q96NT5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96NT5.
    Bgeei Q96NT5.
    CleanExi HS_SLC46A1.
    Genevestigatori Q96NT5.

    Family and domain databases

    InterProi IPR011701. MFS.
    IPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    IPR005829. Sugar_transporter_CS.
    [Graphical view ]
    Pfami PF07690. MFS_1. 1 hit.
    [Graphical view ]
    SUPFAMi SSF103473. SSF103473. 1 hit.
    PROSITEi PS50850. MFS. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 269-459 (ISOFORM 2).
      Tissue: Glial tumor and Spleen.
    2. NIEHS SNPs program
      Submitted (APR-2006) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Eye.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 199-459 (ISOFORM 1).
      Tissue: Spinal cord.
    5. Cited for: SUBCELLULAR LOCATION.
    6. "Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption."
      Qiu A., Jansen M., Sakaris A., Min S.H., Chattopadhyay S., Tsai E., Sandoval C., Zhao R., Akabas M.H., Goldman I.D.
      Cell 127:917-928(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN HFM.
    7. "Haem carrier protein 1 (HCP1): expression and functional studies in cultured cells."
      Latunde-Dada G.O., Takeuchi K., Simpson R.J., McKie A.T.
      FEBS Lett. 580:6865-6870(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    8. "The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption."
      Zhao R., Min S.H., Qiu A., Sakaris A., Goldberg G.L., Sandoval C., Malatack J.J., Rosenblatt D.S., Goldman I.D.
      Blood 110:1147-1152(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANTS HFM SER-113; ARG-147; ARG-318; TRP-376 AND ARG-425.
    9. "Heme carrier protein 1 (HCP1) expression and functional analysis in the retina and retinal pigment epithelium."
      Sharma S., Dimasi D., Broeer S., Kumar R., Della N.G.
      Exp. Cell Res. 313:1251-1259(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    10. "Functional characterization of human proton-coupled folate transporter/heme carrier protein 1 heterologously expressed in mammalian cells as a folate transporter."
      Nakai Y., Inoue K., Abe N., Hatakeyama M., Ohta K.-Y., Otagiri M., Hayashi Y., Yuasa H.
      J. Pharmacol. Exp. Ther. 322:469-476(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, SUBCELLULAR LOCATION.
    11. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-58.
      Tissue: Liver.
    14. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-458, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    15. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    16. "The monomeric state of the proton-coupled folate transporter represents the functional unit in the plasma membrane."
      Duddempudi P.K., Nakashe P., Blanton M.P., Jansen M.
      FEBS J. 280:2900-2915(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBUNIT, SUBCELLULAR LOCATION.
    17. "A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function."
      Lasry I., Berman B., Straussberg R., Sofer Y., Bessler H., Sharkia M., Glaser F., Jansen G., Drori S., Assaraf Y.G.
      Blood 112:2055-2061(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HFM CYS-113, CHARACTERIZATION OF VARIANT HFM CYS-113.
    18. "Properties of the Arg376 residue of the proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorption."
      Mahadeo K., Diop-Bove N., Shin D., Unal E.S., Teo J., Zhao R., Chang M.H., Fulterer A., Romero M.F., Goldman I.D.
      Am. J. Physiol. 299:C1153-C1161(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HFM GLN-376, CHARACTERIZATION OF VARIANT HFM GLN-376, MUTAGENESIS OF ARG-376.
    19. "Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption."
      Shin D.S., Min S.H., Russell L., Zhao R., Fiser A., Goldman I.D.
      Blood 116:5162-5169(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HFM TYR-156, CHARACTERIZATION OF VARIANT HFM TYR-156, MUTAGENESIS OF ASP-109 AND ASP-156.
    20. "Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption."
      Shin D.S., Mahadeo K., Min S.H., Diop-Bove N., Clayton P., Zhao R., Goldman I.D.
      Mol. Genet. Metab. 103:33-37(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HFM ASP-335 AND ARG-338, CHARACTERIZATION OF VARIANTS HFM ASP-335 AND ARG-338.

    Entry informationi

    Entry nameiPCFT_HUMAN
    AccessioniPrimary (citable) accession number: Q96NT5
    Secondary accession number(s): Q1HE20
    , Q86T92, Q8TEG3, Q96FL0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 8, 2005
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 112 of the entry and version 1 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    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

    External Data

    Dasty 3