{ "uniprot_canonical_ac": "P60815-1", "uniprot_ac": "P60815", "uniprot_id": "FLVC2_RAT", "mass": { "chemical_mass": 59742.0, "monoisotopic_mass": 59742.0 }, "refseq": {}, "gene_names": [ { "name": "Flvcr2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P60815", "id": "P60815" } ], "protein_names": [ { "name": "Heme transporter FLVCR2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P60815" }, { "name": "CCT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P60815" }, { "name": "Calcium-chelate transporter", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P60815" }, { "name": "Feline leukemia virus subgroup C receptor-related protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P60815" } ], "function": [ { "annotation": "Putative heme b importer/sensor involved in heme homeostasis in response to the metabolic state of the cell and to diet. May act as a sensor of cytosolic and/or mitochondrial heme levels to regulate mitochondrial respiration processes, ATP synthesis and thermogenesis. At low heme levels, interacts with components of electron transfer chain (ETC) complexes and ATP2A2, leading to ubiquitin-mediated degradation of ATP2A2 and inhibition of thermogenesis. Upon heme binding, dissociates from ETC complexes to allow switching from mitochondrial ATP synthesis to thermogenesis. Alternatively, in coordination with ATP2A2 may mediate calcium transport and signaling in response to heme.", "evidence": [ { "database": "UniProtKB", "id": "P60815", "url": "https://www.uniprot.org/uniprot/P60815#function" }, { "database": "UniProtKB", "id": "Q9UPI3", "url": "https://www.uniprot.org/uniprot/Q9UPI3#function" } ] } ], "disease": [ { "disease_id": "DOID:0111666", "recommended_name": { "id": "DOID:0111666", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111666", "name": "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome", "description": "A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3." }, "synonyms": [ { "id": "DOID:0111666", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111666", "name": "EPV", "description": "" }, { "id": "DOID:0111666", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111666", "name": "Fowler syndrome", "description": "" }, { "id": "DOID:0111666", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111666", "name": "Fowler vasculopathy", "description": "" }, { "id": "DOID:0111666", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111666", "name": "proliferative vasculopathy and hydranencephaly/hydrocephaly", "description": "" }, { "id": "DOID:0111666", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111666", "name": "PVHH", "description": "" }, { "id": "DOID:0111666", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111666", "name": "cerebral proliferative glomeruloid vasculopathy", "description": "" }, { "id": "DOID:0111666", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111666", "name": "encephaloclastic proliferative vasculopathy", "description": "" }, { "id": "DOID:0111666", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111666", "name": "hydranencephaly, Fowler type", "description": "" }, { "id": "DOID:0111666", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111666", "name": "hydrocephaly/hydranencephaly due to cerebral vasculopathy", "description": "" }, { "id": "MONDO:0009168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009168", "name": "Fowler syndrome", "description": "" }, { "id": "MONDO:0009168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009168", "name": "Encephaloclastic proliferative vasculopathy", "description": "" }, { "id": "MONDO:0009168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009168", "name": "Fowler syndrome", "description": "" }, { "id": "MONDO:0009168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009168", "name": "cerebral proliferative glomeruloid vasculopathy", "description": "" }, { "id": "MONDO:0009168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009168", "name": "hydrocephaly/hydranencephaly due to cerebral vasculopathy", "description": "" }, { "id": "MONDO:0009168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009168", "name": "proliferative vasculopathy and hydranencephaly/hydrocephaly", "description": "" }, { "id": "MONDO:0009168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009168", "name": "PVHH", "description": "" }, { "id": "MONDO:0009168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009168", "name": "hydranencephaly, fowler type", "description": "" }, { "id": "MONDO:0009168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009168", "name": "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome", "description": "" }, { "id": "MIM:225790", "resource": "MIM", "url": "https://www.omim.org/entry/225790", "name": "Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome", "description": "Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome" } ], "evidence": [ { "id": "0111666", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111666" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P60815", "url": "https://www.uniprot.org/uniprot/P60815" } ], "common_name": "Rat" } ], "gene": [ { "name": "Flvcr2", "url": "https://www.uniprot.org/uniprot/P60815", "locus": { "chromosome": "6", "start_pos": 105472353, "end_pos": 105408339, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000008754", "url": "https://www.ensembl.org/id/ENSRNOG00000008754" } ] } } ], "crossref": [ { "id": "ENSRNOG00000008754", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000008754", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "IPR011701", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011701", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020846", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020846", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036259", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036259", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "TRPGNIF", "url": "https://omabrowser.org/oma/group/TRPGNIF/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "PTHR10924", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10924", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10924:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10924:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF07690", "url": "http://pfam.xfam.org/family/PF07690", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P60815", "url": "http://purl.obolibrary.org/obo/PR_P60815", "database": "PRO", "categories": [ "Protein" ] }, { "id": "735098", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=735098", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "75443", "url": "https://www.rhea-db.org/rhea/75443", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A0G2JZD2", "url": "https://www.uniprot.org/uniprot/A0A0G2JZD2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JZD2-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JZD2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F1LSF8", "url": "https://www.uniprot.org/uniprot/F1LSF8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F1LSF8-1", "url": "https://www.uniprot.org/uniprot/F1LSF8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P60815", "url": "https://www.uniprot.org/uniprot/P60815", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P60815-1", "url": "https://www.uniprot.org/uniprot/P60815-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVNESLNQEESNDRPVPESEFQADTSYSTQPSVSIHPSVSGHPSVSIHPSVSGHPSVSIDPSVSVHPSSSAHPSTLAQPSGLTHPNELVKEDSVIKVSKRRWAVVLVFSCYSLCNAFQWIQYGSINNIFMNFYGVSAFAIDWLSMCYMLTYIPLLLPVAWMLEKFGLRTIAITGSALNCLGAWVKLGSLEPHLFPVTMVGQVICSVAQVFILGMPSRIASVWFGANEVSTACSMAVFGNQLGIAIGFLVPPVLVPNIKDQEKLAYHISIMFYIIGGVATLLFILVIIVFKEKPKYPPSRAQSLSYALATTDASYLSSIVRLFKNLNFVLLVITYGLNAGAFYALSTLLNRMVIMHFPGQEVNAGRIGLTIVIAGMFGAMISGIWLDKSKTYKETTLVVYIMTLVGMVVYTFTLNLNHLWIVFITADSLGFFMTGYLPLGFEFAVELTYPESEGVSSGLLNVSAQVFGIIFTISQGQIIDNYGSVPGNIFLCVFLALGSALTAFIKSDLRRQRANKDAPETKVQEEEEEEEESNTSKVPTVLSEAHL", "length": 546, "header": "sp|P60815-1|FLVC2_RAT Isoform 1 of Heme transporter FLVCR2 OS=Rattus norvegicus OX=10116 GN=Flvcr2 PE=1 SV=1 CANONICAL=P60815-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JZD2-1", "url": "", "sequence": { "sequence": "MVNESLNQEESNDRPVPESEFQADTSYSTQPSVSIHPSVSGHPSVSIHPSVSGHPSVSIDPSVSVHPSSSAHPSTLAQPSGLTHPNELVKEDSVIKVSKRRWAVVLVFSCYSLCNAFQWIQYGSINNIFMNFYGVSAFAIDWLSMCYMLTYIPLLLPVAWMLEKFGLRTIAITGSALNCLGAWVKLGSLEPHLFPVTMVGQVICSVAQVFILGMPSRIASVWFGANEVSTACSMAVFGNQLGIAIGFLVPPVLVPNIKDQEKLAYHISIMFYIIGGVATLLFILVIIVFKEKPKYPPSRAQSLSYALATTDASYLSSIVRLFKNLNFVLLVITYGLNAGAFYALSTLLNRMVIMHFPGQEVNAGRIGLTIVIAGMFGAMISGIWLDKSKTYKETTLVVYIMTLVGMVVYTFTLNLNHLWIVFITAGSLGFFMTGYLPLGFEFAVELTYPESEGVSSGLLNVSAQVFGIIFTISQGQIIDNYGSVPGNIFLCVFLALGSALTAFIKSDLRRQRANKDAPETVNTQTHTHTHTPSNSLQINTILHRKK", "length": 546, "header": "tr|A0A0G2JZD2-1|FLVC2_RAT Computationally mapped isoform of Heme transporter FLVCR2 OS=Rattus norvegicus OX=10116 GN=Flvcr2 PE=1 SV=2 CANONICAL=P60815-1" }, "locus": { "chromosome": "6", "start_pos": 105466868, "end_pos": 105408650, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000085031.2", "url": "https://www.ensembl.org/id/ENSRNOT00000085031.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000071003.2", "url": "https://www.ensembl.org/id/ENSRNOP00000071003.2" } ] } }, { "isoform_ac": "F1LSF8-1", "url": "", "sequence": { "sequence": "MVNESLNQEESNDRPVPESEFQADTSYSTQPSVSIHPSVSGHPSVSIHPSVSGHPSVSIDPSVSVHPSSSAHPSTLAQPSGLTHPNELVKEDSVIKVSKRRWAVVLVFSCYSLCNAFQWIQYGSINNIFMNFYGVSAFAIDWLSMCYMLTYIPLLLPVAWMLEKFGLRTIAITGSALNCLGAWVKLGSLEPHLFPVTMVGQVICSVAQVFILGMPSRIASVWFGANEVSTACSMAVFGNQLGIAIGFLVPPVLVPNIKDQEKLAYHISIMFYIIGGVATLLFILVIIVFKEKPKYPPSRAQSLSYALATTDASYLSSIVRLFKNLNFVLLVITYGLNAGAFYALSTLLNRMVIMHFPGQEVNAGRIGLTIVIAGMFGAMISGIWLDKSKTYKETTLVVYIMTLVGMVVYTFTLNLNHLWIVFITAGSLGFFMTGYLPLGFEFAVELTYPESEGVSSGLLNVSAQVFGIIFTISQGQIIDNYGSVPGNIFLCVFLALGSALTAFIKSDLRRQRANKDAPETKVQEEEEEEEESNTSKVPTVLSEAHL", "length": 546, "header": "tr|F1LSF8-1|F1LSF8_RAT Computationally mapped isoform of FLVCR heme transporter 2 OS=Rattus norvegicus OX=10116 GN=Flvcr2 PE=4 SV=4 CANONICAL=P60815-1" }, "locus": { "chromosome": "6", "start_pos": 105470887, "end_pos": 105408650, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000011599.7", "url": "https://www.ensembl.org/id/ENSRNOT00000011599.7" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000011599.7", "url": "https://www.ensembl.org/id/ENSRNOP00000011599.7" } ] } }, { "isoform_ac": "P60815-1", "url": "", "sequence": { "sequence": "MVNESLNQEESNDRPVPESEFQADTSYSTQPSVSIHPSVSGHPSVSIHPSVSGHPSVSIDPSVSVHPSSSAHPSTLAQPSGLTHPNELVKEDSVIKVSKRRWAVVLVFSCYSLCNAFQWIQYGSINNIFMNFYGVSAFAIDWLSMCYMLTYIPLLLPVAWMLEKFGLRTIAITGSALNCLGAWVKLGSLEPHLFPVTMVGQVICSVAQVFILGMPSRIASVWFGANEVSTACSMAVFGNQLGIAIGFLVPPVLVPNIKDQEKLAYHISIMFYIIGGVATLLFILVIIVFKEKPKYPPSRAQSLSYALATTDASYLSSIVRLFKNLNFVLLVITYGLNAGAFYALSTLLNRMVIMHFPGQEVNAGRIGLTIVIAGMFGAMISGIWLDKSKTYKETTLVVYIMTLVGMVVYTFTLNLNHLWIVFITADSLGFFMTGYLPLGFEFAVELTYPESEGVSSGLLNVSAQVFGIIFTISQGQIIDNYGSVPGNIFLCVFLALGSALTAFIKSDLRRQRANKDAPETKVQEEEEEEEESNTSKVPTVLSEAHL", "length": 546, "header": "sp|P60815-1|FLVC2_RAT Isoform 1 of Heme transporter FLVCR2 OS=Rattus norvegicus OX=10116 GN=Flvcr2 PE=1 SV=1 CANONICAL=P60815-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 535, "end_pos": 535, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P60815", "url": "https://www.uniprot.org/uniprot/P60815" } ], "site_lbl": "Ser535" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Novel hexad repeats conserved in a putative transporter with restricted expression in cell types associated with growth, calcium exchange and homeostasis.", "journal": "Exp. Cell Res.", "date": "2004", "authors": "Brasier G, Tikellis C, Xuereb L, Craigie J, Casley D, Kovacs CS, Fudge NJ, Kalnins R, Cooper ME, Wookey PJ", "evidence": [ { "database": "UniProtKB", "id": "P60815", "url": "https://www.uniprot.org/uniprot/P60815" } ], "reference": [ { "type": "PubMed", "id": "14729055", "url": "https://glygen.org/publication/PubMed/14729055" } ] } ], "pathway": [], "orthologs": [], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P60815", "url": "https://www.uniprot.org/uniprot/P60815" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P60815", "url": "https://www.uniprot.org/uniprot/P60815" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P60815", "url": "https://www.uniprot.org/uniprot/P60815" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P60815", "url": "https://www.uniprot.org/uniprot/P60815" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "heme transmembrane transporter activity", "id": "GO:0015232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015232", "evidence": [ { "database": "UniProtKB", "id": "P60815", "url": "https://www.uniprot.org/uniprot/P60815" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P60815", "url": "https://www.uniprot.org/uniprot/P60815" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "P60815", "url": "https://www.uniprot.org/uniprot/P60815" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "heme export", "id": "GO:0097037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097037", "evidence": [ { "database": "UniProtKB", "id": "P60815", "url": "https://www.uniprot.org/uniprot/P60815" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 3, "end_pos": 5, "annotation": "n_glycosylation_sequon" }, { "start_pos": 460, "end_pos": 462, "annotation": "n_glycosylation_sequon" }, { "start_pos": 533, "end_pos": 535, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "75443", "name": "", "equation": "heme b(in) = heme b(out)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "75443", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/75443" } ] } ], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }