{ "uniprot_canonical_ac": "Q9W4W8-1", "uniprot_ac": "Q9W4W8", "uniprot_id": "Q9W4W8_DROME", "mass": { "chemical_mass": 90082.0, "monoisotopic_mass": 90082.0 }, "refseq": { "ac": "NP_570017", "name": "paraplegin, isoform A", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570017" }, "gene_names": [ { "name": "Spg7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9W4W8", "id": "Q9W4W8" }, { "name": "CG2658", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9W4W8", "id": "Q9W4W8" }, { "name": "Dm100G10.aj", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9W4W8", "id": "Q9W4W8" }, { "name": "Dmel\\CG2658", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9W4W8", "id": "Q9W4W8" }, { "name": "Dmel_CG2658", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9W4W8", "id": "Q9W4W8" }, { "name": "EG:100G10.7", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9W4W8", "id": "Q9W4W8" }, { "name": "SPG7", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9W4W8", "id": "Q9W4W8" }, { "name": "Spg7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570017", "id": "NP_570017" }, { "name": "anon-3Ba; CG2658; Dm100G10.aj; Dmel\\CG2658; EG:100G10.7; SPG7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570017", "id": "NP_570017" }, { "name": "anon-3Ba", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9W4W8", "id": "Q9W4W8" } ], "protein_names": [ { "name": "3.4.24.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9W4W8" }, { "name": "3.6.1.3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9W4W8" }, { "name": "CG2658-PA; Spg7-PA; paraplegin; paraplegin_DROME", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570017", "id": "NP_570017" }, { "name": "Paraplegin, isoform A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9W4W8" }, { "name": "Paraplegin, isoform C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9W4W8" }, { "name": "paraplegin, isoform A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570017", "id": "NP_570017" } ], "function": [], "disease": [ { "disease_id": "DOID:0050977", "recommended_name": { "id": "DOID:0050977", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050977", "name": "spinocerebellar ataxia type 28", "description": "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene." }, "synonyms": [ { "id": "MONDO:0012450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012450", "name": "spinocerebellar ataxia type 28", "description": "Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." }, { "id": "MONDO:0012450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012450", "name": "SCA28", "description": "" }, { "id": "MONDO:0012450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012450", "name": "spinocerebellar ataxia type 28", "description": "" }, { "id": "MONDO:0012450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012450", "name": "spinocerebellar ataxia 28", "description": "" }, { "id": "MIM:610246", "resource": "MIM", "url": "https://www.omim.org/entry/610246", "name": "Spinocerebellar ataxia 28", "description": "Spinocerebellar ataxia 28" } ], "evidence": [ { "id": "0050977", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050977" } ] }, { "disease_id": "DOID:0080840", "recommended_name": { "id": "DOID:0080840", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080840", "name": "optic atrophy 12", "description": "An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11." }, "synonyms": [ { "id": "MONDO:0033549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033549", "name": "optic atrophy 12", "description": "" }, { "id": "MONDO:0033549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033549", "name": "OPA12", "description": "" }, { "id": "MONDO:0033549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033549", "name": "OPTIC ATROPHY 12", "description": "" }, { "id": "MIM:618977", "resource": "MIM", "url": "https://www.omim.org/entry/618977", "name": "Optic atrophy 12", "description": "Optic atrophy 12" } ], "evidence": [ { "id": "0080840", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080840" } ] }, { "disease_id": "DOID:0110816", "recommended_name": { "id": "DOID:0110816", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110816", "name": "hereditary spastic paraplegia 7", "description": "A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24." }, "synonyms": [ { "id": "DOID:0110816", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110816", "name": "SPG7", "description": "" }, { "id": "DOID:0110816", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110816", "name": "autosomal recessive spastic paraplegia 7", "description": "" }, { "id": "DOID:0110816", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110816", "name": "spastic paraplegia type 7", "description": "" }, { "id": "MONDO:0011803", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011803", "name": "hereditary spastic paraplegia 7", "description": "Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia." }, { "id": "MONDO:0011803", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011803", "name": "SPG7", "description": "" }, { "id": "MONDO:0011803", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011803", "name": "SPG7 hereditary spastic paraplegia", "description": "" }, { "id": "MONDO:0011803", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011803", "name": "autosomal recessive spastic paraplegia 7", "description": "" }, { "id": "MONDO:0011803", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011803", "name": "hereditary spastic paraplegia 7", "description": "" }, { "id": "MONDO:0011803", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011803", "name": "hereditary spastic paraplegia caused by mutation in SPG7", "description": "" }, { "id": "MONDO:0011803", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011803", "name": "hereditary spastic paraplegia type 7", "description": "" }, { "id": "MONDO:0011803", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011803", "name": "spastic paraplegia type 7", "description": "" }, { "id": "MONDO:0011803", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011803", "name": "hereditary spastic paraplegia paraplegin type", "description": "" }, { "id": "MONDO:0011803", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011803", "name": "spastic paraplegia 7", "description": "" }, { "id": "MONDO:0011803", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011803", "name": "spastic paraplegia 7, autosomal recessive", "description": "" }, { "id": "MIM:607259", "resource": "MIM", "url": "https://www.omim.org/entry/607259", "name": "Spastic paraplegia 7, autosomal recessive", "description": "Spastic paraplegia 7, autosomal recessive" } ], "evidence": [ { "id": "0110816", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110816" } ] }, { "disease_id": "DOID:2476", "recommended_name": { "id": "DOID:2476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2476", "name": "hereditary spastic paraplegia", "description": "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs." }, "synonyms": [ { "id": "DOID:2476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2476", "name": "French settlement disease", "description": "" }, { "id": "DOID:2476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2476", "name": "Strumpell-Lorrain disease", "description": "" }, { "id": "DOID:2476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2476", "name": "familial spastic paraplegia", "description": "" }, { "id": "DOID:2476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2476", "name": "hereditary spastic paraparesis", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "MASA syndrome", "description": "MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles." }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "Gareis-Mason syndrome", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "MASA syndrome", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "X-linked complicated hereditary spastic paraplegia type 1", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "X-linked corpus callosum agenesis", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "X-linked spastic paraplegia 1", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "hereditary spastic paraplegia 1", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "masa syndrome, X-linked recessive", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "spastic paraplegia, X-linked", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "CRASH syndrome", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "CRASH syndrome, X-linked recessive", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "Clasped thumb and intellectual disability", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "Clasped thumb and mental retardation", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "adducted thumb with intellectual disability", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "adducted thumb with mental retardation", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "intellectual disability aphasia shuffling Gait adducted thumbs (MASA)", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "intellectual disability, aphasia, shuffling Gait, and adducted thumbs", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "mental retardation aphasia shuffling Gait adducted thumbs (MASA)", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "mental retardation, aphasia, shuffling Gait, and adducted thumbs", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "spastic paraplegia 1", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "spastic paraplegia 1, X-linked", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "thumb congenital clasped with intellectual disability", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "thumb congenital clasped with mental retardation", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "thumb, congenital Clasped, with intellectual disability", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "thumb, congenital Clasped, with mental retardation", "description": "" }, { "id": "MIM:303350", "resource": "MIM", "url": "https://www.omim.org/entry/303350", "name": "MASA syndrome", "description": "MASA syndrome" } ], "evidence": [ { "id": "2476", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2476" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "Spg7", "url": "https://www.uniprot.org/uniprot/Q9W4W8", "locus": { "chromosome": "X", "start_pos": 2694392, "end_pos": 2698211, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0024992", "url": "https://www.ensembl.org/id/FBgn0024992" } ] } } ], "crossref": [ { "id": "FBgn0024992", "url": "https://bgee.org/?page=gene&gene_id=FBgn0024992", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "3.4.24.B18", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.4.24.B18&UniProtAcc=Q9W4W8", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd19501", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd19501", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FBgn0024992", "url": "https://flybase.org/reports/FBgn0024992", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "31253", "url": "https://www.ncbi.nlm.nih.gov/gene/31253", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "Q9W4W8", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9W4W8*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000642", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000642", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003593", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003593", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003959", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003959", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005936", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005936", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011546", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011546", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037219", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037219", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041569", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041569", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG2658", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG2658", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "TRMKSMK", "url": "https://omabrowser.org/oma/group/TRMKSMK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "9585at2759", "url": "http://www.orthodb.org/?query=9585at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR43655", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43655", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR43655:SF8", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43655:SF8", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00004", "url": "http://pfam.xfam.org/family/PF00004", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01434", "url": "http://pfam.xfam.org/family/PF01434", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF06480", "url": "http://pfam.xfam.org/family/PF06480", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17862", "url": "http://pfam.xfam.org/family/PF17862", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "R-DME-8949664", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-8949664", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_570017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570017", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9W4W8-1", "url": "https://www.uniprot.org/uniprot/Q9W4W8-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLKGLRHVRNALQRGGSQLIQLRSATGQPPRIGRELSLLQLSRRQVMQLQAEYKAIVGLIARSLQLTPKEVRLMHLRSLSSTAKPPTASDGKTEKHEQPEKGSAKAKDDSSKEKKSAVAAEDGDKSSRAAGEEAASTPTSSSTIGEPGEDPNKNSNENDEKMRSVLTKAVLWLFTIYMFVAFFSLLITPRSERPEGSTRYVSWNEFVHHMLAVGEVKELIIRPDMEMVTIILHEGAVIKGRKVSSTIFHMAVADANKFEEKLRDVEKRLGIKDGVPVTYDRQTDTTGRILMLLLVCALLMSIATRMKSIKSPLSMDSFNQMGRAKFTLVDPFDGGRGVLFRDVAGLSEAKQEVKEFVDYLKSPEKYQRLGAKVPRGALLLGPPGCGKTLLAKAVATEAQVPFLSMNGSEFIEMIGGLGAARVRDLFKEGKKRAPCIIYIDEIDAIGRQRSGTESMGQGSSGESEQTLNQLLVEMDGMATKEGVLMLASTNRADILDKALLRPGRFDRHILIDLPTLAERKEIFEKHLSSVKLESPPTTFSQRLARLTPGFSGADIANVCNEAALHAARNTQMEVSSKNLEYAVERLVGGTEKRSHALSLAERKVIAYHESGHALVGWMLPNSDILLKVTIVPRTSLALGFAQYTPSEQHLYSKEELFDKMCMALGGRAAENLVFNRITTGAQNDLEKVTKIAYSQIKKFGMNDTLGPIYVRDADETEGGGAMGSGGKKPFSRAMESMIDNEARHVVASAYQTTEGILTTHRDKLEKLAEALLEKETLDYDQVVQLIGPPPYDLGKRQVESVEFEQSLKNLSTDTDATKA", "length": 819, "header": "tr|Q9W4W8-1|Q9W4W8_DROME Isoform 1 of Paraplegin, isoform C OS=Drosophila melanogaster OX=7227 GN=Spg7 PE=1 SV=1 CANONICAL=Q9W4W8-1" }, "isoforms": [ { "isoform_ac": "Q9W4W8-1", "url": "", "sequence": { "sequence": "MLKGLRHVRNALQRGGSQLIQLRSATGQPPRIGRELSLLQLSRRQVMQLQAEYKAIVGLIARSLQLTPKEVRLMHLRSLSSTAKPPTASDGKTEKHEQPEKGSAKAKDDSSKEKKSAVAAEDGDKSSRAAGEEAASTPTSSSTIGEPGEDPNKNSNENDEKMRSVLTKAVLWLFTIYMFVAFFSLLITPRSERPEGSTRYVSWNEFVHHMLAVGEVKELIIRPDMEMVTIILHEGAVIKGRKVSSTIFHMAVADANKFEEKLRDVEKRLGIKDGVPVTYDRQTDTTGRILMLLLVCALLMSIATRMKSIKSPLSMDSFNQMGRAKFTLVDPFDGGRGVLFRDVAGLSEAKQEVKEFVDYLKSPEKYQRLGAKVPRGALLLGPPGCGKTLLAKAVATEAQVPFLSMNGSEFIEMIGGLGAARVRDLFKEGKKRAPCIIYIDEIDAIGRQRSGTESMGQGSSGESEQTLNQLLVEMDGMATKEGVLMLASTNRADILDKALLRPGRFDRHILIDLPTLAERKEIFEKHLSSVKLESPPTTFSQRLARLTPGFSGADIANVCNEAALHAARNTQMEVSSKNLEYAVERLVGGTEKRSHALSLAERKVIAYHESGHALVGWMLPNSDILLKVTIVPRTSLALGFAQYTPSEQHLYSKEELFDKMCMALGGRAAENLVFNRITTGAQNDLEKVTKIAYSQIKKFGMNDTLGPIYVRDADETEGGGAMGSGGKKPFSRAMESMIDNEARHVVASAYQTTEGILTTHRDKLEKLAEALLEKETLDYDQVVQLIGPPPYDLGKRQVESVEFEQSLKNLSTDTDATKA", "length": 819, "header": "tr|Q9W4W8-1|Q9W4W8_DROME Isoform 1 of Paraplegin, isoform C OS=Drosophila melanogaster OX=7227 GN=Spg7 PE=1 SV=1 CANONICAL=Q9W4W8-1" }, "locus": { "chromosome": "X", "start_pos": 2697983, "end_pos": 2695067, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0345716", "url": "https://www.ensembl.org/id/FBtr0345716" }, { "database": "Ensembl Peptide", "id": "FBpp0311759", "url": "https://www.ensembl.org/id/FBpp0311759" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "The genome sequence of Drosophila melanogaster.", "journal": "Science", "date": "2000", "authors": "Adams MD, Celniker SE, Holt RA, Evans CA, Gocayne JD, Amanatides PG, Scherer SE, Li PW, Hoskins RA, Galle RF, George RA, Lewis SE, Richards S, Ashburner M, Henderson SN, Sutton GG, Wortman JR, Yandell MD, Zhang Q, Chen LX, Brandon RC, Rogers YH, Blazej RG, Champe M, Pfeiffer BD, Wan KH, Doyle C, Baxter EG, Helt G, Nelson CR, Gabor GL, Abril JF, Agbayani A, An HJ, Andrews-Pfannkoch C, Baldwin D, Ballew RM, Basu A, Baxendale J, Bayraktaroglu L, Beasley EM, Beeson KY, Benos PV, Berman BP, Bhandari D, Bolshakov S, Borkova D, Botchan MR, Bouck J, Brokstein P, Brottier P, Burtis KC, Busam DA, Butler H, Cadieu E, Center A, Chandra I, Cherry JM, Cawley S, Dahlke C, Davenport LB, Davies P, de Pablos B, Delcher A, Deng Z, Mays AD, Dew I, Dietz SM, Dodson K, Doup LE, Downes M, Dugan-Rocha S, Dunkov BC, Dunn P, Durbin KJ, Evangelista CC, Ferraz C, Ferriera S, Fleischmann W, Fosler C, Gabrielian AE, Garg NS, Gelbart WM, Glasser K, Glodek A, Gong F, Gorrell JH, Gu Z, Guan P, Harris M, Harris NL, Harvey D, Heiman TJ, Hernandez JR, Houck J, Hostin D, Houston KA, Howland TJ, Wei MH, Ibegwam C, Jalali M, Kalush F, Karpen GH, Ke Z, Kennison JA, Ketchum KA, Kimmel BE, Kodira CD, Kraft C, Kravitz S, Kulp D, Lai Z, Lasko P, Lei Y, Levitsky AA, Li J, Li Z, Liang Y, Lin X, Liu X, Mattei B, McIntosh TC, McLeod MP, McPherson D, Merkulov G, Milshina NV, Mobarry C, Morris J, Moshrefi A, Mount SM, Moy M, Murphy B, Murphy L, Muzny DM, Nelson DL, Nelson DR, Nelson KA, Nixon K, Nusskern DR, Pacleb JM, Palazzolo M, Pittman GS, Pan S, Pollard J, Puri V, Reese MG, Reinert K, Remington K, Saunders RD, Scheeler F, Shen H, Shue BC, Siden-Kiamos I, Simpson M, Skupski MP, Smith T, Spier E, Spradling AC, Stapleton M, Strong R, Sun E, Svirskas R, Tector C, Turner R, Venter E, Wang AH, Wang X, Wang ZY, Wassarman DA, Weinstock GM, Weissenbach J, Williams SM, WoodageT, Worley KC, Wu D, Yang S, Yao QA, Ye J, Yeh RF, Zaveri JS, Zhan M, Zhang G, Zhao Q, Zheng L, Zheng XH, Zhong FN, Zhong W, Zhou X, Zhu S, Zhu X, Smith HO, Gibbs RA, Myers EW, Rubin GM, Venter JC", "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ], "reference": [ { "type": "PubMed", "id": "10731132", "url": "https://glygen.org/publication/PubMed/10731132" } ] }, { "title": "Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence.", "journal": "Genome Biol.", "date": "2002", "authors": "Celniker SE, Wheeler DA, Kronmiller B, Carlson JW, Halpern A, Patel S, Adams M, Champe M, Dugan SP, Frise E, Hodgson A, George RA, Hoskins RA, Laverty T, Muzny DM, Nelson CR, Pacleb JM, Park S, Pfeiffer BD, Richards S, Sodergren EJ, Svirskas R, Tabor PE, Wan K, Stapleton M, Sutton GG, Venter C, Weinstock G, Scherer SE, Myers EW, Gibbs RA, Rubin GM", "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ], "reference": [ { "type": "PubMed", "id": "12537568", "url": "https://glygen.org/publication/PubMed/12537568" } ] }, { "title": "Annotation of the Drosophila melanogaster euchromatic genome: a systematic review.", "journal": "Genome Biol.", "date": "2002", "authors": "Misra S, Crosby MA, Mungall CJ, Matthews BB, Campbell KS, Hradecky P, Huang Y, Kaminker JS, Millburn GH, Prochnik SE, Smith CD, Tupy JL, Whitfied EJ, Bayraktaroglu L, Berman BP, Bettencourt BR, Celniker SE, de Grey AD, Drysdale RA, Harris NL, Richter J, Russo S, Schroeder AJ, Shu SQ, Stapleton M, Yamada C, Ashburner M, Gelbart WM, Rubin GM, Lewis SE", "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ], "reference": [ { "type": "PubMed", "id": "12537572", "url": "https://glygen.org/publication/PubMed/12537572" } ] }, { "title": "The transposable elements of the Drosophila melanogaster euchromatin: a genomics perspective.", "journal": "Genome Biol.", "date": "2002", "authors": "Kaminker JS, Bergman CM, Kronmiller B, Carlson J, Svirskas R, Patel S, Frise E, Wheeler DA, Lewis SE, Rubin GM, Ashburner M, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ], "reference": [ { "type": "PubMed", "id": "12537573", "url": "https://glygen.org/publication/PubMed/12537573" } ] }, { "title": "Heterochromatic sequences in a Drosophila whole-genome shotgun assembly.", "journal": "Genome Biol.", "date": "2002", "authors": "Hoskins RA, Smith CD, Carlson JW, Carvalho AB, Halpern A, Kaminker JS, Kennedy C, Mungall CJ, Sullivan BA, Sutton GG, Yasuhara JC, Wakimoto BT, Myers EW, Celniker SE, Rubin GM, Karpen GH", "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ], "reference": [ { "type": "PubMed", "id": "12537574", "url": "https://glygen.org/publication/PubMed/12537574" } ] }, { "title": "Combined evidence annotation of transposable elements in genome sequences.", "journal": "PLoS Comput. Biol.", "date": "2005", "authors": "Quesneville H, Bergman CM, Andrieu O, Autard D, Nouaud D, Ashburner M, Anxolabehere D", "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ], "reference": [ { "type": "PubMed", "id": "16110336", "url": "https://glygen.org/publication/PubMed/16110336" } ] }, { "title": "The Release 5.1 annotation of Drosophila melanogaster heterochromatin.", "journal": "Science", "date": "2007", "authors": "Smith CD, Shu S, Mungall CJ, Karpen GH", "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ], "reference": [ { "type": "PubMed", "id": "17569856", "url": "https://glygen.org/publication/PubMed/17569856" } ] }, { "title": "Sequence finishing and mapping of Drosophila melanogaster heterochromatin.", "journal": "Science", "date": "2007", "authors": "Hoskins RA, Carlson JW, Kennedy C, Acevedo D, Evans-Holm M, Frise E, Wan KH, Park S, Mendez-Lago M, Rossi F, Villasante A, Dimitri P, Karpen GH, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ], "reference": [ { "type": "PubMed", "id": "17569867", "url": "https://glygen.org/publication/PubMed/17569867" } ] }, { "title": "The Release 6 reference sequence of the Drosophila melanogaster genome.", "journal": "Genome Res.", "date": "2015", "authors": "Hoskins RA, Carlson JW, Wan KH, Park S, Mendez I, Galle SE, Booth BW, Pfeiffer BD, George RA, Svirskas R, Krzywinski M, Schein J, Accardo MC, Damia E, Messina G, Mendez-Lago M, de Pablos B, Demakova OV, Andreyeva EN, Boldyreva LV, Marra M, Carvalho AB, Dimitri P, Villasante A, Zhimulev IF, Rubin GM, Karpen GH, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ], "reference": [ { "type": "PubMed", "id": "25589440", "url": "https://glygen.org/publication/PubMed/25589440" } ] }, { "title": "Gene Model Annotations for Drosophila melanogaster: The Rule-Benders.", "journal": "G3 (Bethesda)", "date": "2015", "authors": "Crosby MA, Gramates LS, Dos Santos G, Matthews BB, St Pierre SE, Zhou P, Schroeder AJ, Falls K, Emmert DB, Russo SM, Gelbart WM", "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ], "reference": [ { "type": "PubMed", "id": "26109356", "url": "https://glygen.org/publication/PubMed/26109356" } ] }, { "title": "Gene Model Annotations for Drosophila melanogaster: Impact of High-Throughput Data.", "journal": "G3 (Bethesda)", "date": "2015", "authors": "Matthews BB, Dos Santos G, Crosby MA, Emmert DB, St Pierre SE, Gramates LS, Zhou P, Schroeder AJ, Falls K, Strelets V, Russo SM, Gelbart WM", "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ], "reference": [ { "type": "PubMed", "id": "26109357", "url": "https://glygen.org/publication/PubMed/26109357" } ] } ], "pathway": [ { "id": "dme:Dmel_CG2658", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG2658", "resource": "KEGG Pathway" }, { "id": "R-DME-8949664", "name": "Processing of SMDT1", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-8949664", "resource": "Reactome", "description": "Processing of SMDT1" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ], "pmid": "" }, { "name": "ATP-dependent peptidase activity", "id": "GO:0004176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004176", "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ], "pmid": "" }, { "name": "m-AAA complex", "id": "GO:0005745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005745", "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "mitochondrial protein processing", "id": "GO:0034982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034982", "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 406, "end_pos": 408, "annotation": "n_glycosylation_sequon" }, { "start_pos": 702, "end_pos": 704, "annotation": "n_glycosylation_sequon" }, { "start_pos": 809, "end_pos": 811, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-DME-8949649", "name": "PMPCA:PMPCB cleaves the transit peptide of proSMDT1 (proEMRE)", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "mitochondrial inner membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9W4W8-1", "Q9VFF0-1", "Q8T4G5-1" ], "evidence": [ { "id": "R-DME-8949649", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-8949649" } ] }, { "id": "R-DME-8949659", "name": "AFG3L2 (m-AAA protease) degrades SMDT1 that is not assembled in MCU", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "mitochondrial inner membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9W4W8-1", "Q8T4G5-1" ], "evidence": [ { "id": "R-DME-8949659", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-8949659" } ] }, { "id": "R-DME-8949661", "name": "C2orf47:AFG3L2 binds the transit peptide of SMDT1", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "mitochondrial inner membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9W4W8-1", "Q8T4G5-1" ], "evidence": [ { "id": "R-DME-8949661", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-8949661" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "Q8T4G5", "gene_name": "Afg3l2", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q8T4G5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8T4G5" } ] } ] }, { "uniprot_ac": "Q9VFF0", "gene_name": "UQCR-C1", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q9VFF0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VFF0" } ] } ] }, { "uniprot_ac": "Q9W4W8", "gene_name": "Spg7", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q9W4W8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ] }, { "ec_number": "3.6.1.3", "activity": "", "evidence": [ { "id": "Q9W4W8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W4W8" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [], "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "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": 11 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }