FOLR1
entrez
2348
canonical
uniprot
P15328
canonical
ensembl
ENSG00000110195
resolver
ensp
ENSP00000308137
resolver
ensp
ENSP00000377281
resolver
ensp
ENSP00000377284
resolver
ensp
ENSP00000377286
resolver
ensp
ENSP00000502440
resolver
ensp
ENSP00000563369
resolver
ensp
ENSP00000563370
resolver
enst
ENST00000312293
resolver
enst
ENST00000393676
resolver
enst
ENST00000393679
resolver
enst
ENST00000393681
resolver
enst
ENST00000675784
resolver
enst
ENST00000893310
resolver
enst
ENST00000893311
resolver
genesymbol
FOLR1
resolver
genesymbol_syn
FOLR
resolver
hgnc
HGNC:3791
resolver
uniprot
Q53EW2
resolver
uniprot
Q6FGT8
resolver
uniprot
Q6LC90
resolver
uniprot
Q9UCT2
resolver
uniprot_entry
FOLR1_HUMAN
resolver
uniprot_sec
Q53EW2
resolver
uniprot_sec
Q6FGT8
resolver
uniprot_sec
Q6LC90
resolver
uniprot_sec
Q9UCT2
resolver
amino_acid_sequence
MAQRMTTQLLLLLVWVAVVGEAQTRIAWARTELLNVCMNAKHHKEKPGPEDKLHEQCRPWRKNACCSTNTSQEAHKDVSYLYRFNWNHCGEMAPACKRHFIQDTCLYECSPNLGPWIQQVDQSWRKERVLNVPLCKEDCEQWWEDCRTSYTCKSNWHKGWNWTSGFNKCAVGAACQPFHFYFPTPTVLCNEIWTHSYKVSNYSRGSGRCIQMWFDPAQGNPNEEVARFYAAAMSGAGPWAAWPFLLSLALMLLWLLS
uniprot
proteins
disease_involvement
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.
uniprot
proteins
function
FUNCTION: Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells (PubMed:19074442, PubMed:23851396, PubMed:23934049, PubMed:2527252, PubMed:8033114, PubMed:8567728). Has high affinity for folate and folic acid analogs at neutral pH (PubMed:23851396, PubMed:23934049, PubMed:2527252, PubMed:8033114, PubMed:8567728). Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release (PubMed:8567728). Required for normal embryonic development and normal cell proliferation (By similarity). {ECO:0000250|UniProtKB:P35846, ECO:0000269|PubMed:19074442, ECO:0000269|PubMed:23851396, ECO:0000269|PubMed:23934049, ECO:0000269|PubMed:2527252, ECO:0000269|PubMed:8033114, ECO:0000269|PubMed:8567728}.
uniprot
proteins
mass_dalton
29819
uniprot
proteins
mutagenesis
MUTAGEN 82; /note="Y->A: Slightly reduced affinity for folate."; /evidence="ECO:0000269|PubMed:23851396"; MUTAGEN 103; /note="D->A: Strongly reduced affinity for folate."; /evidence="ECO:0000269|PubMed:23851396"; MUTAGEN 107; /note="Y->A: Moderately reduced affinity for folate."; /evidence="ECO:0000269|PubMed:23851396"; MUTAGEN 124; /note="W->A: Moderately reduced affinity for folate."; /evidence="ECO:0000269|PubMed:23851396"; MUTAGEN 125; /note="R->A: Moderately reduced affinity for folate."; /evidence="ECO:0000269|PubMed:23851396"; MUTAGEN 128; /note="R->A: Moderately reduced affinity for folate."; /evidence="ECO:0000269|PubMed:23851396"; MUTAGEN 157; /note="H->A: Moderately reduced affinity for folate."; /evidence="ECO:0000269|PubMed:23851396"; MUTAGEN 162; /note="W->A: Moderately reduced affinity for folate."; /evidence="ECO:0000269|PubMed:23851396"; MUTAGEN 196; /note="S->A: Moderately reduced affinity for folate."; /evidence="ECO:0000269|PubMed:23851396
uniprot
proteins
post_translational_modification
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. {ECO:0000305|PubMed:3476960}.
uniprot
proteins
protein_family
Folate receptor family
uniprot
proteins
pubmed
10787414
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1581364
uniprot
proteins
pubmed
1717147
uniprot
proteins
pubmed
17566972
uniprot
proteins
pubmed
1840502
uniprot
proteins
pubmed
18780401
uniprot
proteins
pubmed
19074442
uniprot
proteins
pubmed
19732866
uniprot
proteins
pubmed
23851396
uniprot
proteins
pubmed
23934049
uniprot
proteins
pubmed
2527252
uniprot
proteins
pubmed
2538429
uniprot
proteins
pubmed
2768245
uniprot
proteins
pubmed
3476960
uniprot
proteins
pubmed
7578066
uniprot
proteins
pubmed
8033114
uniprot
proteins
pubmed
8567728
uniprot
proteins
pubmed
9063895
uniprot
proteins
sequence_length
257
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:2527252, ECO:0000269|PubMed:8033114, ECO:0000269|PubMed:8567728}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:17566972, ECO:0000269|PubMed:7578066}. Apical cell membrane {ECO:0000269|PubMed:10787414}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:17566972, ECO:0000269|PubMed:7578066}. Basolateral cell membrane {ECO:0000269|PubMed:10787414}; Lipid-anchor, GPI-like-anchor {ECO:0000269|PubMed:17566972, ECO:0000269|PubMed:7578066}. Secreted {ECO:0000305|PubMed:3476960}. Cytoplasmic vesicle {ECO:0000269|PubMed:8567728}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000269|PubMed:8567728}. Endosome {ECO:0000269|PubMed:8567728}. Note=Endocytosed into cytoplasmic vesicles and then recycled to the cell membrane. {ECO:0000269|PubMed:8567728}.
uniprot
proteins