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Q96NT5 (PCFT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Proton-coupled folate transporter
Alternative name(s):
G21
Heme carrier protein 1
PCFT/HCP1
Solute carrier family 46 member 1
Gene names
Name:SLC46A1
Synonyms:HCP1, PCFT
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length459 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.6 Ref.7 Ref.8 Ref.10

Subunit structure

Monomer. Ref.16

Subcellular location

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. Ref.5 Ref.6 Ref.7 Ref.8 Ref.10 Ref.16

Tissue specificity

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. Ref.6 Ref.9

Involvement in disease

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. Ref.6 Ref.8 Ref.17 Ref.18 Ref.19 Ref.20

Sequence similarities

Belongs to the major facilitator superfamily. SLC46A family.

Biophysicochemical properties

Kinetic parameters:

KM=1.3 µM for folic acid (at pH 5.5) Ref.6 Ref.10

KM=1.5 µM for folic acid (at pH 6.0)

KM=2.7 µM for folic acid (at pH 6.5)

KM=6.0 µM for folic acid (at pH 7.0)

KM=56.2 µM for folic acid (at pH 7.5)

pH dependence:

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

Ontologies

Keywords
   Biological processTransport
   Cellular componentCell membrane
Cytoplasm
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainTransmembrane
Transmembrane helix
   LigandFolate-binding
   PTMAcetylation
Glycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcellular iron ion homeostasis

Traceable author statement. Source: Reactome

folic acid metabolic process

Traceable author statement. Source: Reactome

folic acid transport

Inferred from direct assay Ref.6Ref.10. Source: UniProtKB

small molecule metabolic process

Traceable author statement. Source: Reactome

transmembrane transport

Traceable author statement. Source: Reactome

vitamin metabolic process

Traceable author statement. Source: Reactome

water-soluble vitamin metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentapical plasma membrane

Inferred from direct assay Ref.10. Source: UniProtKB

brush border membrane

Inferred from electronic annotation. Source: Ensembl

cytoplasm

Inferred from sequence or structural similarity. Source: UniProtKB

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionfolic acid binding

Inferred from electronic annotation. Source: UniProtKB-KW

folic acid transporter activity

Inferred from direct assay Ref.6Ref.10. Source: UniProtKB

heme transporter activity

Inferred from electronic annotation. Source: Ensembl

methotrexate transporter activity

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96NT5-1)

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.
Isoform 2 (identifier: Q96NT5-2)

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).

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 459459Proton-coupled folate transporter
PRO_0000084851

Regions

Transmembrane87 – 10721Helical; Potential
Transmembrane115 – 13521Helical; Potential
Transmembrane149 – 16921Helical; Potential
Transmembrane183 – 20321Helical; Potential
Transmembrane211 – 23121Helical; Potential
Transmembrane267 – 28721Helical; Potential
Transmembrane303 – 32523Helical; Potential
Transmembrane337 – 35721Helical; Potential
Transmembrane359 – 37921Helical; Potential
Transmembrane390 – 41021Helical; Potential
Transmembrane423 – 44321Helical; Potential

Amino acid modifications

Modified residue11N-acetylmethionine Ref.15
Modified residue4581Phosphoserine Ref.14
Glycosylation581N-linked (GlcNAc...) Ref.13

Natural variations

Alternative sequence361 – 38828Missing in isoform 2.
VSP_016053
Natural variant1131R → C in HFM; loss-of-function mutation; targeted to the plasma membrane but has significantly impaired folate transport activity. Ref.17
Corresponds to variant rs80338770 [ dbSNP | Ensembl ].
VAR_058210
Natural variant1131R → S in HFM; abolishes folate uptake. Ref.8
Corresponds to variant rs80338770 [ dbSNP | Ensembl ].
VAR_032825
Natural variant1471G → R in HFM; reduces folate uptake to 13% of normal levels. Ref.8
Corresponds to variant rs80338771 [ dbSNP | Ensembl ].
VAR_032826
Natural variant1561D → Y in HFM; loss of function measured as methotrexate uptake. Ref.19
Corresponds to variant rs281875210 [ dbSNP | Ensembl ].
VAR_067960
Natural variant2951T → A.
Corresponds to variant rs34552966 [ dbSNP | Ensembl ].
VAR_050302
Natural variant3181S → R in HFM; abolishes folate uptake. Ref.8
Corresponds to variant rs80338772 [ dbSNP | Ensembl ].
VAR_032827
Natural variant3351A → D in HFM; loss of function measured as methotrexate uptake. Ref.20
Corresponds to variant rs281875208 [ dbSNP | Ensembl ].
VAR_067961
Natural variant3381G → R in HFM; loss of function measured as methotrexate uptake. Ref.20
Corresponds to variant rs281875209 [ dbSNP | Ensembl ].
VAR_067962
Natural variant3761R → Q in HFM; abolishes folate uptake. Ref.18
Corresponds to variant rs281875211 [ dbSNP | Ensembl ].
VAR_067963
Natural variant3761R → W in HFM; abolishes folate uptake. Ref.8
Corresponds to variant rs80338773 [ dbSNP | Ensembl ].
VAR_032828
Natural variant4251P → R in HFM; reduces folate uptake to 3.5% of normal levels. Ref.8
Corresponds to variant rs80338774 [ dbSNP | Ensembl ].
VAR_032829

Experimental info

Mutagenesis1091D → A, G, E, K, N or S: Loss of methotrexate uptake. Ref.19
Mutagenesis1561D → E: Does not affect methotrexate uptake. Ref.19
Mutagenesis1561D → F, K, N, V or W: Loss of methotrexate uptake. Ref.19
Mutagenesis1561D → G: 2-fold reduction of methotrexate uptake. Ref.19
Mutagenesis1561D → S: 8-fold reduction of methotrexate uptake. Ref.19
Mutagenesis3761R → A, C, E, H, Q or W: Abolishes folate uptake. Ref.18
Sequence conflict3941A → G in BAB84987. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 119F89E9E4ACA5F4

FASTA45949,771
        10         20         30         40         50         60 
MEGSASPPEK PRARPAAAVL CRGPVEPLVF LANFALVLQG PLTTQYLWHR FSADLGYNGT 

        70         80         90        100        110        120 
RQRGGCSNRS ADPTMQEVET LTSHWTLYMN VGGFLVGLFS STLLGAWSDS VGRRPLLVLA 

       130        140        150        160        170        180 
SLGLLLQALV SVFVVQLQLH VGYFVLGRIL CALLGDFGGL LAASFASVAD VSSSRSRTFR 

       190        200        210        220        230        240 
MALLEASIGV AGMLASLLGG HWLRAQGYAN PFWLALALLI AMTLYAAFCF GETLKEPKST 

       250        260        270        280        290        300 
RLFTFRHHRS IVQLYVAPAP EKSRKHLALY SLAIFVVITV HFGAQDILTL YELSTPLCWD 

       310        320        330        340        350        360 
SKLIGYGSAA QHLPYLTSLL ALKLLQYCLA DAWVAEIGLA FNILGMVVFA FATITPLMFT 

       370        380        390        400        410        420 
GYGLLFLSLV ITPVIRAKLS KLVRETEQGA LFSAVACVNS LAMLTASGIF NSLYPATLNF 

       430        440        450 
MKGFPFLLGA GLLLIPAVLI GMLEKADPHL EFQQFPQSP 

« Hide

Isoform 2 [UniParc].

Checksum: EE81E0C20CF70C00
Show »

FASTA43146,644

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 199-459 (ISOFORM 1).
Tissue: Spinal cord.
[5]"Identification of an intestinal heme transporter."
Shayeghi M., Latunde-Dada G.O., Oakhill J.S., Laftah A.H., Takeuchi K., Halliday N., Khan Y., Warley A., McCann F.E., Hider R.C., Frazer D.M., Anderson G.J., Vulpe C.D., Simpson R.J., McKie A.T.
Cell 122:789-801(2005) [PubMed] [Europe PMC] [Abstract]
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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001229295.1. NM_001242366.2. [Q96NT5-2]
NP_542400.2. NM_080669.5. [Q96NT5-1]
UniGeneHs.446689.

3D structure databases

ProteinModelPortalQ96NT5.
SMRQ96NT5. Positions 94-130.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125236. 1 interaction.
IntActQ96NT5. 1 interaction.
STRING9606.ENSP00000395653.

Chemistry

BindingDBQ96NT5.
ChEMBLCHEMBL1795188.
DrugBankDB00158. Folic Acid.
GuidetoPHARMACOLOGY1213.

Protein family/group databases

TCDB2.A.1.50.1. the major facilitator superfamily (mfs).

PTM databases

PhosphoSiteQ96NT5.

Polymorphism databases

DMDM74732636.

Proteomic databases

MaxQBQ96NT5.
PaxDbQ96NT5.
PRIDEQ96NT5.

Protocols and materials databases

DNASU113235.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000440501; ENSP00000395653; ENSG00000076351. [Q96NT5-1]
ENST00000576273; ENSP00000461713; ENSG00000262186. [Q96NT5-1]
ENST00000592419; ENSP00000466554; ENSG00000262186. [Q96NT5-2]
GeneID113235.
KEGGhsa:113235.
UCSCuc002hbf.2. human. [Q96NT5-1]
uc021ttr.1. human. [Q96NT5-2]

Organism-specific databases

CTD113235.
GeneCardsGC17M026721.
GeneReviewsSLC46A1.
H-InvDBHIX0022189.
HGNCHGNC:30521. SLC46A1.
HPACAB011614.
MIM229050. phenotype.
611672. gene.
neXtProtNX_Q96NT5.
Orphanet90045. Hereditary folate malabsorption.
PharmGKBPA162403775.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG306680.
HOGENOMHOG000054191.
HOVERGENHBG055334.
InParanoidQ96NT5.
KOK14613.
OMAQRGGCSN.
PhylomeDBQ96NT5.
TreeFamTF315701.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.
REACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ96NT5.
BgeeQ96NT5.
CleanExHS_SLC46A1.
GenevestigatorQ96NT5.

Family and domain databases

InterProIPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
IPR005829. Sugar_transporter_CS.
[Graphical view]
PfamPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMSSF103473. SSF103473. 1 hit.
PROSITEPS50850. MFS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSLC46A1.
GenomeRNAi113235.
NextBio78800.
PROQ96NT5.
SOURCESearch...

Entry information

Entry namePCFT_HUMAN
AccessionPrimary (citable) accession number: Q96NT5
Secondary accession number(s): Q1HE20 expand/collapse secondary AC list , Q86T92, Q8TEG3, Q96FL0
Entry history
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 110 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM