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Q96NT5

- PCFT_HUMAN

UniProt

Q96NT5 - PCFT_HUMAN

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Protein

Proton-coupled folate transporter

Gene
SLC46A1, HCP1, PCFT
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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)
  3. KM=2.7 µM for folic acid (at pH 6.5)
  4. KM=6.0 µM for folic acid (at pH 7.0)
  5. KM=56.2 µM for folic acid (at pH 7.5)

pH dependencei

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

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
Complete GO annotation...

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.6 Publications

Topology

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

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.6 Publications
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.

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

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. VSP_016053Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti394 – 3941A → G in BAB84987. 1 Publication

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]
ENST00000576273; ENSP00000461713; ENSG00000262186. [Q96NT5-1]
ENST00000592419; ENSP00000466554; ENSG00000262186. [Q96NT5-2]
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 ]
ENST00000576273 ; ENSP00000461713 ; ENSG00000262186 . [Q96NT5-1 ]
ENST00000592419 ; ENSP00000466554 ; ENSG00000262186 . [Q96NT5-2 ]
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 111 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

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