InnateDB Protein
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IDBP-243129.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FOLR1
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Protein Name
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folate receptor 1 (adult)
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Synonyms
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FBP; FOLR;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000377286
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InnateDB Gene
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IDBG-63244 (FOLR1)
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Protein Structure
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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:0000269PubMed:23851396, ECO:0000269PubMed:23934049, ECO:0000269PubMed:2527252, ECO:0000269PubMed:8033114, ECO:0000269PubMed:8567728}.
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Subcellular Localization |
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.
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Disease Associations |
Neurodegeneration due to cerebral folate transport deficiency (NCFTD) [MIM:613068]: A 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:0000269PubMed:19732866}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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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:0000269PubMed:2527252, ECO:0000269PubMed:2768245, ECO:0000269PubMed:9063895}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
15
[view]
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Protein-Protein |
15
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR018143
Folate receptor-like
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PFAM |
PF03024
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P15328
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PhosphoSite |
PhosphoSite-
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TrEMBL |
Q9NP04
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UniProt Splice Variant |
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Entrez Gene |
2348
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UniGene |
Hs.73769
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RefSeq |
NP_057936
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HUGO |
HGNC:3791
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OMIM |
136430
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CCDS |
CCDS8211
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HPRD |
00638
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IMGT |
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EMBL |
AK223527
BC002947
BT007158
CH471076
CR542019
J05013
M25317
M28099
M35069
S73474
S73490
U20391
U78793
U78794
X62753
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GenPept |
AAA35822
AAA35823
AAA35824
AAA74896
AAB05827
AAB31700
AAB31702
AAB39751
AAB39752
AAH02947
AAP35822
BAD97247
CAA44610
CAG46816
EAW74848
EAW74850
EAW74851
EAW74852
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