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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-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)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
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 Componenti: 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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2424CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei25 – 4824HelicalSequence AnalysisAdd
BLAST
Topological domaini49 – 8436ExtracellularSequence AnalysisAdd
BLAST
Transmembranei85 – 10723HelicalSequence AnalysisAdd
BLAST
Topological domaini108 – 1136CytoplasmicSequence Analysis
Transmembranei114 – 13724HelicalSequence AnalysisAdd
BLAST
Topological domaini138 – 1458ExtracellularSequence Analysis
Transmembranei146 – 16823HelicalSequence AnalysisAdd
BLAST
Topological domaini169 – 18012CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei181 – 20323HelicalSequence AnalysisAdd
BLAST
Topological domaini204 – 2129ExtracellularSequence Analysis
Transmembranei213 – 23624HelicalSequence AnalysisAdd
BLAST
Topological domaini237 – 26529CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei266 – 28823HelicalSequence AnalysisAdd
BLAST
Topological domaini289 – 30921ExtracellularSequence AnalysisAdd
BLAST
Transmembranei310 – 32819HelicalSequence AnalysisAdd
BLAST
Topological domaini329 – 3313CytoplasmicSequence Analysis
Transmembranei332 – 35625HelicalSequence AnalysisAdd
BLAST
Topological domaini357 – 3593ExtracellularSequence Analysis
Transmembranei360 – 38122HelicalSequence AnalysisAdd
BLAST
Topological domaini382 – 39312CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei394 – 41219HelicalSequence AnalysisAdd
BLAST
Topological domaini413 – 42412ExtracellularSequence AnalysisAdd
BLAST
Transmembranei425 – 44925HelicalSequence AnalysisAdd
BLAST
Topological domaini450 – 45910CytoplasmicSequence Analysis

GO - Cellular componenti

  1. apical plasma membrane Source: UniProtKB
  2. brush border membrane Source: Ensembl
  3. cell surface Source: UniProtKB
  4. cytoplasm Source: UniProtKB
  5. integral component of membrane Source: UniProtKB-KW
  6. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

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)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...)2 Publications
Glycosylationi68 – 681N-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

BgeeiQ96NT5.
CleanExiHS_SLC46A1.
ExpressionAtlasiQ96NT5. baseline and differential.
GenevestigatoriQ96NT5.

Organism-specific databases

HPAiCAB011614.

Interactioni

Subunit structurei

Monomer.1 Publication

Protein-protein interaction databases

BioGridi125236. 2 interactions.
IntActiQ96NT5. 1 interaction.
STRINGi9606.ENSP00000395653.

Structurei

3D structure databases

ProteinModelPortaliQ96NT5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG306680.
GeneTreeiENSGT00530000063076.
HOGENOMiHOG000054191.
HOVERGENiHBG055334.
InParanoidiQ96NT5.
KOiK14613.
OMAiQRGGCSN.
PhylomeDBiQ96NT5.
TreeFamiTF315701.

Family and domain databases

InterProiIPR011701. MFS.
IPR020846. MFS_dom.
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. AlignAdd to basket

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:November 30, 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:
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.

Genome annotation databases

EnsembliENST00000612814; ENSP00000480703; ENSG00000076351. [Q96NT5-1]
ENST00000618626; ENSP00000483652; ENSG00000076351. [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:
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 interactions.
IntActiQ96NT5. 1 interaction.
STRINGi9606.ENSP00000395653.

Chemistry

BindingDBiQ96NT5.
ChEMBLiCHEMBL1795188.
DrugBankiDB00158. Folic Acid.
DB00563. Methotrexate.
DB00795. Sulfasalazine.
GuidetoPHARMACOLOGYi1213.

Protein family/group databases

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

PTM databases

PhosphoSiteiQ96NT5.

Polymorphism databases

DMDMi74732636.

Proteomic databases

MaxQBiQ96NT5.
PaxDbiQ96NT5.
PRIDEiQ96NT5.

Protocols and materials databases

DNASUi113235.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000612814; ENSP00000480703; ENSG00000076351. [Q96NT5-1]
ENST00000618626; ENSP00000483652; ENSG00000076351. [Q96NT5-2]
GeneIDi113235.
KEGGihsa:113235.
UCSCiuc002hbf.2. human. [Q96NT5-1]
uc021ttr.1. human. [Q96NT5-2]

Organism-specific databases

CTDi113235.
GeneCardsiGC17M026721.
GeneReviewsiSLC46A1.
H-InvDBHIX0022189.
HGNCiHGNC:30521. SLC46A1.
HPAiCAB011614.
MIMi229050. phenotype.
611672. gene.
neXtProtiNX_Q96NT5.
Orphaneti90045. Hereditary folate malabsorption.
PharmGKBiPA162403775.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG306680.
GeneTreeiENSGT00530000063076.
HOGENOMiHOG000054191.
HOVERGENiHBG055334.
InParanoidiQ96NT5.
KOiK14613.
OMAiQRGGCSN.
PhylomeDBiQ96NT5.
TreeFamiTF315701.

Enzyme and pathway databases

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

Miscellaneous databases

GeneWikiiSLC46A1.
GenomeRNAii113235.
NextBioi78800.
PROiQ96NT5.
SOURCEiSearch...

Gene expression databases

BgeeiQ96NT5.
CleanExiHS_SLC46A1.
ExpressionAtlasiQ96NT5. baseline and differential.
GenevestigatoriQ96NT5.

Family and domain databases

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

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(2003) [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 (MAR-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(2003) [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(2005) [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(2005) [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(2006) [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(2006) [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(2006) [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(2007) [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(2008) [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(2009) [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(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT, SUBCELLULAR LOCATION.
  17. "Substituted cysteine accessibility reveals a novel transmembrane 2-3 reentrant loop and functional role for transmembrane domain 2 in the human proton-coupled folate transporter."
    Wilson M.R., Hou Z., Matherly L.H.
    J. Biol. Chem. 289:25287-25295(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TOPOLOGY, GLYCOSYLATION AT ASN-58 AND ASN-68.
  18. "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(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HFM CYS-113, CHARACTERIZATION OF VARIANT HFM CYS-113.
  19. "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(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HFM GLN-376, CHARACTERIZATION OF VARIANT HFM GLN-376, MUTAGENESIS OF ARG-376.
  20. "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(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HFM TYR-156, CHARACTERIZATION OF VARIANT HFM TYR-156, MUTAGENESIS OF ASP-109 AND ASP-156.
  21. "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(2010) [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 7, 2005
Last sequence update: November 30, 2001
Last modified: January 6, 2015
This is version 114 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.