Entity Details

Primary name PCFT_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96NT5
EntryNamePCFT_HUMAN
FullNameProton-coupled folate transporter
TaxID9606
Evidenceevidence at protein level
Length459
SequenceStatuscomplete
DateCreated2005-11-08
DateModified2021-04-07

Ontological Relatives

GenesSLC46A1

GO terms

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GOName
GO:0005542 folic acid binding
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0006879 cellular iron ion homeostasis
GO:0008517 folic acid transmembrane transporter activity
GO:0009986 cell surface
GO:0015078 proton transmembrane transporter activity
GO:0015350 methotrexate transmembrane transporter activity
GO:0015884 folic acid transport
GO:0015886 heme transport
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0031526 brush border membrane
GO:0046655 folic acid metabolic process
GO:0051958 methotrexate transport
GO:0098829 intestinal folate absorption
GO:1902600 proton transmembrane transport
GO:1904447 folate import across plasma membrane

Subcellular Location

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Subcellular Location
Apical cell membrane
Cytoplasm

Domains

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DomainNameCategoryType
IPR005829 Sugar transporter, conserved siteSiteConserved site
IPR011701 Major facilitator superfamilyFamilyFamily
IPR020846 Major facilitator superfamily domainDomainDomain
IPR036259 MFS transporter superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
229050 OMIMHereditary folate malabsorption (HFM)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00158 Folic acidDrugbanksmall molecule
DB00563 MethotrexateDrugbanksmall molecule
DB00795 SulfasalazineDrugbanksmall molecule
DB08878 AminopterinSwissprotsmall molecule
DB11256 Levomefolic acidSwissprotsmall molecule

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
PCFT_HUMANPCFT_HUMANMINT23601781 details