UniProt functional annotation for P15328



	UniProt functional annotation for P15328

UniProt code: P15328.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells. Has high affinity for folate and folic acid analogs at neutral pH. Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release. Required for normal embryonic development and normal cell proliferation. {ECO:0000269|PubMed:23851396, ECO:0000269|PubMed:23934049, ECO:0000269|PubMed:2527252, ECO:0000269|PubMed:8033114, ECO:0000269|PubMed:8567728}.

Subcellular location: Cell membrane; Lipid-anchor, GPI-anchor. Secreted {ECO:0000305}. Cytoplasmic vesicle. Cytoplasmic vesicle, clathrin- coated vesicle. Endosome. Apical cell membrane {ECO:0000250}. Note=Endocytosed into cytoplasmic vesicles and then recycled to the cell membrane.

Tissue specificity: Primarily expressed in tissues of epithelial origin. Expression is increased in malignant tissues. Expressed in kidney, lung and cerebellum. Detected in placenta and thymus epithelium. {ECO:0000269|PubMed:2527252, ECO:0000269|PubMed:2768245, ECO:0000269|PubMed:9063895}.

Ptm: The secreted form is derived from the membrane-bound form either by cleavage of the GPI anchor, or/and by proteolysis catalyzed by a metalloprotease.

Disease: Neurodegeneration due to cerebral folate transport deficiency (NCFTD) [MIM:613068]: An autosomal recessive neurodegenerative disorder resulting from brain-specific folate deficiency early in life. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy and leukodystrophy. {ECO:0000269|PubMed:19732866}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the folate receptor family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells. Has high affinity for folate and folic acid analogs at neutral pH. Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release. Required for normal embryonic development and normal cell proliferation. {ECO:0000269\|PubMed:23851396, ECO:0000269\|PubMed:23934049, ECO:0000269\|PubMed:2527252, ECO:0000269\|PubMed:8033114, ECO:0000269\|PubMed:8567728}.


Subcellular location:		Cell membrane; Lipid-anchor, GPI-anchor. Secreted {ECO:0000305}. Cytoplasmic vesicle. Cytoplasmic vesicle, clathrin- coated vesicle. Endosome. Apical cell membrane {ECO:0000250}. Note=Endocytosed into cytoplasmic vesicles and then recycled to the cell membrane.
Tissue specificity:		Primarily expressed in tissues of epithelial origin. Expression is increased in malignant tissues. Expressed in kidney, lung and cerebellum. Detected in placenta and thymus epithelium. {ECO:0000269\|PubMed:2527252, ECO:0000269\|PubMed:2768245, ECO:0000269\|PubMed:9063895}.
Ptm:		The secreted form is derived from the membrane-bound form either by cleavage of the GPI anchor, or/and by proteolysis catalyzed by a metalloprotease.
Disease:		Neurodegeneration due to cerebral folate transport deficiency (NCFTD) [MIM:613068]: An autosomal recessive neurodegenerative disorder resulting from brain-specific folate deficiency early in life. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy and leukodystrophy. {ECO:0000269\|PubMed:19732866}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the folate receptor family. {ECO:0000305}.