{ "uniprot_canonical_ac": "P25621-1", "uniprot_ac": "P25621", "uniprot_id": "FEN2_YEAST", "mass": { "chemical_mass": 58256.0, "monoisotopic_mass": 58256.0 }, "refseq": { "ac": "NP_009957", "name": "Fen2p", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009957" }, "gene_names": [ { "name": "FEN2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P25621", "id": "P25621" }, { "name": "FEN2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009957", "id": "NP_009957" }, { "name": "YCR28C", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P25621", "id": "P25621" } ], "protein_names": [ { "name": "Pantothenate transporter FEN2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P25621" }, { "name": "Fen2p", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009957", "id": "NP_009957" }, { "name": "Fenpropimorph resistance protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P25621" } ], "function": [ { "annotation": "Transports pantothenate into the cell. Also involved in the catabolite repression-mediated regulation of ergosterol biosynthesis and in fenpropimorph resistance.", "evidence": [ { "database": "UniProtKB", "id": "P25621", "url": "https://www.uniprot.org/uniprot/P25621#function" }, { "database": "PubMed", "id": "8771708", "url": "https://glygen.org/publication/PubMed/8771708" }, { "database": "PubMed", "id": "10373490", "url": "https://glygen.org/publication/PubMed/10373490" } ] } ], "disease": [ { "disease_id": "DOID:0080855", "recommended_name": { "id": "DOID:0080855", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture." }, "synonyms": [], "evidence": [ { "id": "0080855", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ] }, { "disease_id": "DOID:0110555", "recommended_name": { "id": "DOID:0110555", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110555", "name": "autosomal dominant nonsyndromic deafness 25", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23." }, "synonyms": [ { "id": "DOID:0110555", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110555", "name": "DFNA25", "description": "" }, { "id": "DOID:0110555", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110555", "name": "autosomal dominant deafness 25", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "autosomal dominant nonsyndromic hearing loss 25", "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene." }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "DFNA25", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "SLC17A8 autosomal dominant nonsyndromic deafness", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "autosomal dominant deafness 25", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "autosomal dominant nonsyndromic deafness 25", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "autosomal dominant nonsyndromic deafness caused by mutation in SLC17A8", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "autosomal dominant nonsyndromic deafness type 25", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "deafness, autosomal dominant 25", "description": "" }, { "id": "MONDO:0011568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011568", "name": "deafness, autosomal dominant type 25", "description": "" }, { "id": "MIM:605583", "resource": "MIM", "url": "https://www.omim.org/entry/605583", "name": "Deafness, autosomal dominant, 25", "description": "Deafness, autosomal dominant, 25" } ], "evidence": [ { "id": "0110555", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110555" } ] }, { "disease_id": "DOID:11446", "recommended_name": { "id": "DOID:11446", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11446", "name": "sciatic neuropathy", "description": "" }, "synonyms": [], "evidence": [ { "id": "11446", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ] }, { "disease_id": "DOID:13189", "recommended_name": { "id": "DOID:13189", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13189", "name": "gout", "description": "An arthritis that has_material_basis_in uric acid crystal deposits located_in joint." }, "synonyms": [ { "id": "DOID:13189", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13189", "name": "Articular gout", "description": "" }, { "id": "DOID:13189", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13189", "name": "Gouty arthropathy", "description": "" }, { "id": "DOID:13189", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13189", "name": "gouty arthritis", "description": "" } ], "evidence": [ { "id": "13189", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13189" } ] }, { "disease_id": "DOID:224", "recommended_name": { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death." }, "synonyms": [ { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "TIA", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "TIA - Transient ischaemic attack", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "Transient cerebral ischaemia", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "Transient ischemic attacks", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "transient ischemic attack", "description": "" } ], "evidence": [ { "id": "224", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:224" } ] }, { "disease_id": "DOID:3211", "recommended_name": { "id": "DOID:3211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3211", "name": "lysosomal storage disease", "description": "An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function." }, "synonyms": [ { "id": "DOID:3211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3211", "name": "disorder of lysosomal enzyme", "description": "" }, { "id": "DOID:3211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3211", "name": "inborn lysosomal enzyme disorder", "description": "" }, { "id": "DOID:3211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3211", "name": "lysosomal storage metabolism disorder", "description": "" } ], "evidence": [ { "id": "3211", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3211" } ] }, { "disease_id": "DOID:3659", "recommended_name": { "id": "DOID:3659", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3659", "name": "sialuria", "description": "A lysosomal storage disease characterized by increased sialic acid in the urine." }, "synonyms": [ { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "" }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria, French type", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive." }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "sialic acid storage disease", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "SD", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "sialuria, Finnish type", "description": "" }, { "id": "MIM:269921", "resource": "MIM", "url": "https://www.omim.org/entry/269921", "name": "Sialuria", "description": "Sialuria" }, { "id": "MIM:604369", "resource": "MIM", "url": "https://www.omim.org/entry/604369", "name": "Salla disease", "description": "Salla disease" } ], "evidence": [ { "id": "3659", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3659" } ] }, { "disease_id": "DOID:3805", "recommended_name": { "id": "DOID:3805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3805", "name": "porokeratosis", "description": "" }, "synonyms": [ { "id": "DOID:3805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3805", "name": "disseminated superficial actinic porokeratosis", "description": "" }, { "id": "MONDO:0008290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008290", "name": "porokeratosis 1, Mibelli type", "description": "" }, { "id": "MONDO:0008290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008290", "name": "POROK1", "description": "" }, { "id": "MONDO:0008290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008290", "name": "porokeratosis 1, MIBELLI type", "description": "" }, { "id": "MONDO:0008290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008290", "name": "porokeratosis 1, multiple types", "description": "" }, { "id": "MONDO:0008290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008290", "name": "porokeratosis of Mibelli", "description": "" }, { "id": "MIM:175800", "resource": "MIM", "url": "https://www.omim.org/entry/175800", "name": "Porokeratosis 1, multiple types", "description": "Porokeratosis 1, multiple types" } ], "evidence": [ { "id": "3805", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3805" } ] }, { "disease_id": "DOID:5463", "recommended_name": { "id": "DOID:5463", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5463", "name": "cochlear disease", "description": "" }, "synonyms": [], "evidence": [ { "id": "5463", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5463" } ] }, { "disease_id": "DOID:9784", "recommended_name": { "id": "DOID:9784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9784", "name": "trichinosis", "description": "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi. Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur." }, "synonyms": [ { "id": "DOID:9784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9784", "name": "Trichinella spiralis infection", "description": "" } ], "evidence": [ { "id": "9784", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9784" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "P25621", "url": "https://www.uniprot.org/uniprot/P25621" } ], "common_name": "Yeast" } ], "gene": [ { "name": "FEN2", "url": "https://www.uniprot.org/uniprot/P25621", "locus": {} } ], "crossref": [ { "id": "cd17327", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd17327", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "850394", "url": "https://www.ncbi.nlm.nih.gov/gene/850394", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "P25621", "url": "https://www.ebi.ac.uk/intact/interactors/id:P25621*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR011701", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011701", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036259", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036259", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "sce:YCR028C", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+sce:YCR028C", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "WWLFSFV", "url": "https://omabrowser.org/oma/group/WWLFSFV/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3598420at2759", "url": "http://www.orthodb.org/?query=3598420at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR43791", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43791", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR43791:SF4", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43791:SF4", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF07690", "url": "http://pfam.xfam.org/family/PF07690", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P25621", "url": "http://purl.obolibrary.org/obo/PR_P25621", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_009957", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009957", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "S000000623", "url": "https://www.yeastgenome.org/locus/S000000623", "database": "SGD", "categories": [ "Organism-specific" ] }, { "id": "P25621", "url": "https://www.uniprot.org/uniprot/P25621", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P25621-1", "url": "https://www.uniprot.org/uniprot/P25621-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMKESKSITQHEVERESVSSKRAIKKRLLLFKIDLFVLSFVCLQYWINYVDRVGFTNAYISGMKEDLKMVGNDLTVSNTVFMIGYIVGMVPNNLMLLCVPPRIWLSFCTFAWGLLTLGMYKVTSFKHICAIRFFQALFESCTFSGTHFVLGSWYKEDELPIRSAIFTGSGLVGSMFSGFMQTSIFTHLNGRNGLAGWRWLFIIDFCITLPIAIYGFIFFPGLPDQTSAVSKFSMTRYIFNEQELHYARRRLPARDESTRLDWSTIPRVLKRWHWWMFSLVWVLGGENLGFASNSTFALWLQNQKYTLAQRNNYPSGIFAVGIVSTLCSAVYMSKIPRARHWHVSVFISLVMVIVAVLIRADPLNPKVVFSAQYLGGVAYAGQAVFFSWANIICHADLQERAIVLASMNMFSGAVNAWWSILFFASDMVPKFERGCYALLATAISSGIVSVVIRSLQIKENLSKKQVPYIDANDMPGEDDDDDNQDNENDGDDESMEVELHNEEMAEISNPFR", "length": 512, "header": "sp|P25621-1|FEN2_YEAST Isoform 1 of Pantothenate transporter FEN2 OS=Saccharomyces cerevisiae S288C OX=559292 GN=FEN2 PE=1 SV=1 CANONICAL=P25621-1" }, "isoforms": [ { "isoform_ac": "P25621-1", "url": "", "sequence": { "sequence": "MMKESKSITQHEVERESVSSKRAIKKRLLLFKIDLFVLSFVCLQYWINYVDRVGFTNAYISGMKEDLKMVGNDLTVSNTVFMIGYIVGMVPNNLMLLCVPPRIWLSFCTFAWGLLTLGMYKVTSFKHICAIRFFQALFESCTFSGTHFVLGSWYKEDELPIRSAIFTGSGLVGSMFSGFMQTSIFTHLNGRNGLAGWRWLFIIDFCITLPIAIYGFIFFPGLPDQTSAVSKFSMTRYIFNEQELHYARRRLPARDESTRLDWSTIPRVLKRWHWWMFSLVWVLGGENLGFASNSTFALWLQNQKYTLAQRNNYPSGIFAVGIVSTLCSAVYMSKIPRARHWHVSVFISLVMVIVAVLIRADPLNPKVVFSAQYLGGVAYAGQAVFFSWANIICHADLQERAIVLASMNMFSGAVNAWWSILFFASDMVPKFERGCYALLATAISSGIVSVVIRSLQIKENLSKKQVPYIDANDMPGEDDDDDNQDNENDGDDESMEVELHNEEMAEISNPFR", "length": 512, "header": "sp|P25621-1|FEN2_YEAST Isoform 1 of Pantothenate transporter FEN2 OS=Saccharomyces cerevisiae S288C OX=559292 GN=FEN2 PE=1 SV=1 CANONICAL=P25621-1" }, "locus": { "chromosome": "III", "start_pos": 172424, "end_pos": 170889, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "YCR028C_mRNA", "url": "https://www.ensembl.org/id/YCR028C_mRNA" }, { "database": "Ensembl Peptide", "id": "YCR028C", "url": "https://www.ensembl.org/id/YCR028C" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 7, "end_pos": 7, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "SGD", "id": "P25621", "url": "https://www.yeastgenome.org/locus/P25621" }, { "database": "iPTMnet", "id": "P25621", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P25621" }, { "database": "PubMed", "id": "23749301", "url": "https://glygen.org/publication/PubMed/23749301" } ], "site_lbl": "Ser7" } ], "glycation": [], "keywords": [], "publication": [ { "title": "The fenpropimorph resistance gene FEN2 from Saccharomyces cerevisiae encodes a plasma membrane H+-pantothenate symporter.", "journal": "J. Biol. 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