ENSG00000110195


Homo sapiens

Features
Gene ID: ENSG00000110195
  
Biological name :FOLR1
  
Synonyms : folate receptor 1 / FOLR1 / P15328
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q13.4
Gene start: 72189558
Gene end: 72196323
  
Corresponding Affymetrix probe sets: 204437_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000377286
Ensembl peptide - ENSP00000308137
Ensembl peptide - ENSP00000377281
Ensembl peptide - ENSP00000377284
NCBI entrez gene - 2348     See in Manteia.
OMIM - 136430
RefSeq - NM_016724
RefSeq - NM_000802
RefSeq - NM_016725
RefSeq - NM_016729
RefSeq Peptide - NP_000793
RefSeq Peptide - NP_057936
RefSeq Peptide - NP_057937
RefSeq Peptide - NP_057941
swissprot - P15328
swissprot - A0A024R5H1
Ensembl - ENSG00000110195
  
Related genetic diseases (OMIM): 613068 - Neurodegeneration due to cerebral folate transport deficiency, 613068
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 IZUMO1RENSDARG00000102442Danio rerio
 FOLR1ENSGALG00000017343Gallus gallus
 Folr1ENSMUSG00000001827Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FOLR2 / P14207 / folate receptor betaENSG0000016545770
FOLR3 / P41439 / folate receptor 3ENSG0000011020368
A6ND01 / IZUMO1R / IZUMO1 receptor, JUNOENSG0000018356054


Protein motifs (from Interpro)
Interpro ID Name
 IPR004269  Folate receptor
 IPR018143  Folate receptor-like
 IPR032935  Folate receptor alpha


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001947 heart looping ISS
 biological_processGO:0003147 neural crest cell migration involved in heart formation ISS
 biological_processGO:0003253 cardiac neural crest cell migration involved in outflow tract morphogenesis ISS
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport TAS
 biological_processGO:0006898 receptor-mediated endocytosis TAS
 biological_processGO:0015884 folic acid transport IMP
 biological_processGO:0017015 regulation of transforming growth factor beta receptor signaling pathway ISS
 biological_processGO:0031103 axon regeneration ISS
 biological_processGO:0046655 folic acid metabolic process IEA
 biological_processGO:0048208 COPII vesicle coating TAS
 biological_processGO:0048678 response to axon injury IEA
 biological_processGO:0060828 regulation of canonical Wnt signaling pathway ISS
 biological_processGO:0061626 pharyngeal arch artery morphogenesis ISS
 biological_processGO:0061713 anterior neural tube closure ISS
 biological_processGO:0071231 cellular response to folic acid IDA
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005886 plasma membrane NAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0005903 brush border IEA
 cellular_componentGO:0009986 cell surface HDA
 cellular_componentGO:0012507 ER to Golgi transport vesicle membrane TAS
 cellular_componentGO:0016020 membrane TAS
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IDA
 cellular_componentGO:0016324 apical plasma membrane IDA
 cellular_componentGO:0030133 transport vesicle TAS
 cellular_componentGO:0030136 clathrin-coated vesicle IEA
 cellular_componentGO:0031225 anchored component of membrane IEA
 cellular_componentGO:0031362 anchored component of external side of plasma membrane IDA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0031526 brush border membrane IEA
 cellular_componentGO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane TAS
 cellular_componentGO:0046658 anchored component of plasma membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005542 folic acid binding TAS
 molecular_functionGO:0008144 drug binding IPI
 molecular_functionGO:0008517 folic acid transmembrane transporter activity IEA
 molecular_functionGO:0051870 methotrexate binding IDA
 molecular_functionGO:0061714 folic acid receptor activity IMP


Pathways (from Reactome)
Pathway description
COPII-mediated vesicle transport
Cargo concentration in the ER
COPI-mediated anterograde transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0002180 Neurodegeneration 
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 HP:0002376 Developmental regression 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000086598 TMED2 / Q15363 / transmembrane p24 trafficking protein 2  / reaction / complex
 ENSG00000170348 P49755 / TMED10 / transmembrane p24 trafficking protein 10  / complex / reaction






 

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