{ "uniprot_canonical_ac": "A0A0G2JZP7-1", "uniprot_ac": "A0A0G2JZP7", "uniprot_id": "A0A0G2JZP7_RAT", "mass": { "chemical_mass": 273939.0, "monoisotopic_mass": 273939.0 }, "refseq": { "ac": "NP_001178500", "name": "spatacsin", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001178500" }, "gene_names": [ { "name": "Spg11", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7", "id": "A0A0G2JZP7" }, { "name": "RGD1562529", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001178500", "id": "NP_001178500" }, { "name": "Spg11", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001178500", "id": "NP_001178500" } ], "protein_names": [ { "name": "SPG11 vesicle-trafficking-associated, spatacsin", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7#names_and_taxonomy", "id": "A0A0G2JZP7" }, { "name": "spastic paraplegia 11 (autosomal recessive); SPG11, spatacsin vesicle trafficking associated", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001178500", "id": "NP_001178500" }, { "name": "spatacsin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001178500", "id": "NP_001178500" } ], "function": [], "disease": [ { "disease_id": "DOID:0060197", "recommended_name": { "id": "DOID:0060197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060197", "name": "amyotrophic lateral sclerosis type 5", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21." }, "synonyms": [ { "id": "DOID:0060197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060197", "name": "ALS5", "description": "" }, { "id": "DOID:0060197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060197", "name": "amyotrophic lateral sclerosis 5", "description": "" }, { "id": "MONDO:0011196", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011196", "name": "amyotrophic lateral sclerosis type 5", "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene." }, { "id": "MONDO:0011196", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011196", "name": "amyotrophic lateral sclerosis caused by mutation in SPG11", "description": "" }, { "id": "MONDO:0011196", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011196", "name": "amyotrophic lateral sclerosis 5", "description": "" }, { "id": "MONDO:0011196", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011196", "name": "amyotrophic lateral sclerosis 5, juvenile", "description": "" }, { "id": "MONDO:0011196", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011196", "name": "amyotrophic lateral sclerosis 5, juvenile; ALS5", "description": "" }, { "id": "MONDO:0011196", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011196", "name": "ALS5", "description": "" }, { "id": "MONDO:0011196", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011196", "name": "SPG11 amyotrophic lateral sclerosis", "description": "" }, { "id": "MIM:602099", "resource": "MIM", "url": "https://www.omim.org/entry/602099", "name": "Amyotrophic lateral sclerosis 5, juvenile", "description": "Amyotrophic lateral sclerosis 5, juvenile" } ], "evidence": [ { "id": "0060197", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060197" } ] }, { "disease_id": "DOID:0110176", "recommended_name": { "id": "DOID:0110176", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110176", "name": "Charcot-Marie-Tooth disease axonal type 2X", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21." }, "synonyms": [ { "id": "DOID:0110176", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110176", "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2X", "description": "" }, { "id": "DOID:0110176", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110176", "name": "Charcot-Marie-Tooth neuropathy type 2X", "description": "" }, { "id": "MONDO:0014726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014726", "name": "Charcot-Marie-Tooth disease axonal type 2X", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene." }, { "id": "MONDO:0014726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014726", "name": "Charcot-Marie-Tooth neuropathy, type 2X", "description": "" }, { "id": "MONDO:0014726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014726", "name": "Charcot-Marie-Tooth neuropathy type 2X", "description": "" }, { "id": "MONDO:0014726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014726", "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X", "description": "" }, { "id": "MONDO:0014726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014726", "name": "CMT2X", "description": "" }, { "id": "MONDO:0014726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014726", "name": "SPG11 Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0014726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014726", "name": "ARCMT2X", "description": "" }, { "id": "MONDO:0014726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014726", "name": "autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation", "description": "" }, { "id": "MONDO:0014726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014726", "name": "autosomal recessive Charcot-Marie-Tooth disease type 2X", "description": "" }, { "id": "MONDO:0014726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014726", "name": "Charcot-Marie-Tooth disease, axonal, type 2x", "description": "" }, { "id": "MONDO:0014726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014726", "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2X", "description": "" }, { "id": "MONDO:0014726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014726", "name": "Charcot-Marie-Tooth disease caused by mutation in SPG11", "description": "" }, { "id": "MONDO:0014726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014726", "name": "Charcot-Marie-Tooth disease, axonal, type 2X; CMT2X", "description": "" }, { "id": "MONDO:0014726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014726", "name": "autosomal recessive Charcot Marie Tooth disease type 2X", "description": "" }, { "id": "MIM:616668", "resource": "MIM", "url": "https://www.omim.org/entry/616668", "name": "Charcot-Marie-Tooth disease 2X", "description": "Charcot-Marie-Tooth disease 2X" } ], "evidence": [ { "id": "0110176", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110176" } ] }, { "disease_id": "DOID:0110764", "recommended_name": { "id": "DOID:0110764", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110764", "name": "hereditary spastic paraplegia 11", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21." }, "synonyms": [ { "id": "DOID:0110764", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110764", "name": "HSP-TCC", "description": "" }, { "id": "DOID:0110764", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110764", "name": "Nakamura-Osame syndrome", "description": "" }, { "id": "DOID:0110764", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110764", "name": "SPG11", "description": "" }, { "id": "DOID:0110764", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110764", "name": "autosomal recessive spastic paraplegia 11", "description": "" }, { "id": "DOID:0110764", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110764", "name": "autosomal recessive spastic paraplegia type 11", "description": "" }, { "id": "DOID:0110764", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110764", "name": "autosomal recessive spastic paraplegia complicated with thin corpus callosum", "description": "" }, { "id": "DOID:0110764", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110764", "name": "spastic paraplegia-intellectual disability-thin corpus callosum syndrome", "description": "" }, { "id": "DOID:0110764", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110764", "name": "autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum", "description": "" }, { "id": "MONDO:0011445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011445", "name": "hereditary spastic paraplegia 11", "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene." }, { "id": "MONDO:0011445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011445", "name": "SPG11", "description": "" }, { "id": "MONDO:0011445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011445", "name": "Nakamura Osame syndrome", "description": "" }, { "id": "MONDO:0011445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011445", "name": "autosomal recessive spastic paraplegia 11", "description": "" }, { "id": "MONDO:0011445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011445", "name": "spastic paraplegia 11", "description": "" }, { "id": "MONDO:0011445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011445", "name": "autosomal recessive spastic paraplegia complicated with thin corpus callosum", "description": "" }, { "id": "MONDO:0011445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011445", "name": "spastic paraplegia - intellectual deficit - thin corpus callosum", "description": "" }, { "id": "MONDO:0011445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011445", "name": "hereditary spastic paraplegia type 11", "description": "" }, { "id": "MONDO:0011445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011445", "name": "SPG11 hereditary spastic paraplegia", "description": "" }, { "id": "MONDO:0011445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011445", "name": "spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum", "description": "" }, { "id": "MONDO:0011445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011445", "name": "spastic paraplegia 11, autosomal recessive; SPG11", "description": "" }, { "id": "MONDO:0011445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011445", "name": "spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum", "description": "" }, { "id": "MONDO:0011445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011445", "name": "autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum", "description": "" }, { "id": "MONDO:0011445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011445", "name": "spastic paraplegia-intellectual disability-thin corpus callosum syndrome", "description": "" }, { "id": "MONDO:0011445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011445", "name": "hereditary spastic paraplegia mental impairment and thin corpus callosum", "description": "" }, { "id": "MONDO:0011445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011445", "name": "hereditary spastic paraplegia caused by mutation in SPG11", "description": "" }, { "id": "MONDO:0011445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011445", "name": "spastic paraplegia 11, autosomal recessive", "description": "" }, { "id": "MONDO:0011445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011445", "name": "autosomal recessive spastic paraplegia type 11", "description": "" }, { "id": "MONDO:0011445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011445", "name": "HSP-TCC", "description": "" }, { "id": "MONDO:0011445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011445", "name": "Nakamura-Osame syndrome", "description": "" }, { "id": "MIM:604360", "resource": "MIM", "url": "https://www.omim.org/entry/604360", "name": "Spastic paraplegia 11, autosomal recessive", "description": "Spastic paraplegia 11, autosomal recessive" } ], "evidence": [ { "id": "0110764", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110764" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "common_name": "Rat" } ], "gene": [ { "name": "Spg11", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7", "locus": { "chromosome": "3", "start_pos": 114065170, "end_pos": 113999719, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000021954", "url": "https://www.ensembl.org/id/ENSRNOG00000021954" } ] } } ], "crossref": [ { "id": "ENSRNOG00000021954", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000021954", "database": "Bgee" }, { "id": "311372", "url": "https://www.ncbi.nlm.nih.gov/gene/311372", "database": "GeneID" }, { "id": "IPR028103", "url": "https://www.ebi.ac.uk/interpro/entry/IPR028103", "database": "InterPro" }, { "id": "IPR028107", "url": "https://www.ebi.ac.uk/interpro/entry/IPR028107", "database": "InterPro" }, { "id": "rno:311372", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:311372", "database": "KEGG Pathway" }, { "id": "SYCEDIY", "url": "https://omabrowser.org/oma/group/SYCEDIY/", "database": "OMA" }, { "id": "6211at2759", "url": "http://www.orthodb.org/?query=6211at2759", "database": "OrthoDB" }, { "id": "PTHR13650", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13650", "database": "PANTHER" }, { "id": "PF14649", "url": "http://pfam.xfam.org/family/PF14649", "database": "Pfam" }, { "id": "NP_001178500", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001178500", "database": "RefSeq" }, { "id": "1562529", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1562529", "database": "RGD" }, { "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7", "database": "UniProtKB" }, { "id": "A0A0G2JZP7-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7-1", "database": "UniProtKB" }, { "id": "A0A8I6G5Q3", "url": "https://www.uniprot.org/uniprot/A0A8I6G5Q3", "database": "UniProtKB" }, { "id": "A0A8I6G5Q3-1", "url": "https://www.uniprot.org/uniprot/A0A8I6G5Q3-1", "database": "UniProtKB" }, { "id": "D3Z9Z3", "url": "https://www.uniprot.org/uniprot/D3Z9Z3", "database": "UniProtKB" }, { "id": "D3Z9Z3-1", "url": "https://www.uniprot.org/uniprot/D3Z9Z3-1", "database": "UniProtKB" } ], "sequence": { "sequence": "MAAKPGPGSAASPGCAGAMERVLPMLLVRIPAEETAQLGPRAQLHRELEALGSLTAAGSLQVLSLAPGSRGGSSCRLQGPFRQFLWEESQNSTSADKPRVLVAREDCGLLIYEFDLRDGRCDAALLHSCCGRTLQKLTEDQGVSISFKSLRILSFDNSTSLLLINECLVVRVVFPGRESGIGVLGCLSLPLPAQAVDTIIDVQLCKRFLFLLSTLGWIHIFDTVKGMHVARVDLALPREDSEQQEPASISSFMSLKVSRDLDVLLLVSSSSTAVALNLHLYFRLHPGHLLCEGTLQDLPIEGPTGIDEDDLVNSAHNMKLTKVSFQVDRSWRAQLASLNESVRSSEPELSCYPPWFQGALCLESLESGNHSPIVPNHVFIPGDVPSGQYAFPQKEHSKTSEPRPWRTMHLSEQEQPTELTCLSVTGFTALFIQAVGTTSCTVVLWDLETQSMQCFSLSQKCTPVDISGDQQLCLALTENGLSLILFGLTQEEFLNRLMIHGSASTVDSLCHLNGWGRCSIPIHALEAGIENRQLDTVDFFLKSKENLLTPSSKSPAPDQQQHFSSQLYLRQVEEMTPALDLLCSAIRESDSETQSKHFAEQLLHLTLSFLNKQMRELFDHTEELDEHLQKGAAILTSYINELRTFMIKFPWKPGDAIDESDENEEVLTVKEGQVWEELRSEEVIADAILNNRIPEAQTFFRITGHSAQRLEELVRIGLDLAFDSLKKNSVEEASRLLRNMGFSVEDELLKISFYTTDKNIRDFLVEILKEKECFSEKERRTVDFVHQAERLYSGHFQENAPMQAFPRYWIKEQDCFKHKSVLDTFLKCDTKDEFTKQDHRIALNWAHWWDRQTQECILLPRISSEEYKAHSPEALWRHLTARHDWSSISLWMEEFQAQETVSPQQSKWPPLSAAVIEQNTCCSRHMRNAILDQLARCGIFLASELEDFELLLLRLSRIGGVMQDALPVQSYRSSAGCNFDSQVILYCLEHGLQHLLYVYLDYYKLSPGNCPFLEKKELHEAHPWLEFLVQCRQVSSNLTDPKLIFQASLANAQISIPTNQASVSSMLLEGHTLLALATTMYAPGGVSQVIQHEDSENCLKKVDPQLLKMALTPYPKLKAALFPQCTAPSILPSDITLYHLIQSLPPFDPSRLFGWQSANTLAIGDAAGQLPHFSSPDLVSKYAVVEQLSYTYYLHHGRPSFAFGTFLVQELIKSKTPKQLIQQVGKEAYTLGLSSFHNPSVGAACVCFLELLGLSSLKLRVDLKMANVVLGSRRRNEDAHPSFIRESLAEKLSKLADGDRATTEELLVLLEEGVWDSIEQQGFNRLSSESSSQWSLVLQFCMLHDMKLSVSYLRECAKANDWLQFLVHSQLHNYHPEEVETLLQYFSPVLQSHLKLASEKLSSGSISKDDSCLQELQKNKETSDFFEILHRCSDESASWCWLLAEAVRHRVPILSVLASCIQGASAVPCLCVWIVTSVEDKVAAEAIEHIQISVEDHHWSLEDLSIIWRTVLTRRKIHTLIRGFRLFIKDSPLLLIMEMYELCVFFKNYGKAKVKLVEFQKSLEMLDTVATRVLPVIPATWMREQVCFLLKLMPQQCETQYELQKVLQLFVGMEQLFSDGPDVQKLYRLSQVLKDTPITISPAVISSYSTESLQRECRSILEKLKADGQFAVARRVAELASLPVDGLVIEQLTQEMQMLTHTQQWSLKQARLDFWRKCHENFKKNSVSNRAASSFFSSQAPEASEHPAEQGSLEERHLLLTLAGHWLAQEEPVPVEELEELEKQIWLCRIAQHTCGGAEEETKPSLSQHKLAPAELSSDSSASEFSFSKLAALNTSKYLDLNGLPSKEMCENTLEHREQESLNTLIGQLLDGGCVHEASRVCRYFRVYSQDLVLLLHCRALASAEASMEDLHSEIRALLSNATLPEDLESPGVPLRKVHSTSSLDSLSFAMVPPTDEVARSLQTLISRCLHGKDYCRQVLCLYELAKELGCSYGDVATRDSEAMLRAILASQRPDRCRQAQVFINTQGLEPDTVAELVAEEVTRELLTPSEGAGEKQPFNLAEESQTFLQLTALCQDRTLVGMKLLDKIPSVPHGELSCTTELLILAHHCFTCACYMEGIIRVLQAARMLTDNHLAPNEEYGLVVRLLTGIGRYNEMTYIFDLLHQKHYFEVLMRKKLDPTGTLKTALLDYIKRCHPGDSEKHNMIALCFSMCREIGENHEAAACIQLKLIESQPWEESLKDGAQLKQLLLKALTLMLDAAESYAKDSCVRQALHCNRLTKLITLQIHFLNSGQNTMLINLGHQKLMDCIMTLPRFYQASIVAEAYDFVPDWAEVLYQQVILKGDFSYLEEFKQQKLLKPNIFEDISKKYKQHQPTDRVTENLKKLLSYCEDIYLYYKLAYEHKFFEIVNMLLKDPQTGCCLKDMLAG", "length": 2428, "header": "tr|A0A0G2JZP7-1|A0A0G2JZP7_RAT Isoform 1 of SPG11 vesicle-trafficking-associated, spatacsin OS=Rattus norvegicus OX=10116 GN=Spg11 PE=4 SV=2 CANONICAL=A0A0G2JZP7-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JZP7-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7#A0A0G2JZP7-1", "sequence": { "sequence": "MAAKPGPGSAASPGCAGAMERVLPMLLVRIPAEETAQLGPRAQLHRELEALGSLTAAGSLQVLSLAPGSRGGSSCRLQGPFRQFLWEESQNSTSADKPRVLVAREDCGLLIYEFDLRDGRCDAALLHSCCGRTLQKLTEDQGVSISFKSLRILSFDNSTSLLLINECLVVRVVFPGRESGIGVLGCLSLPLPAQAVDTIIDVQLCKRFLFLLSTLGWIHIFDTVKGMHVARVDLALPREDSEQQEPASISSFMSLKVSRDLDVLLLVSSSSTAVALNLHLYFRLHPGHLLCEGTLQDLPIEGPTGIDEDDLVNSAHNMKLTKVSFQVDRSWRAQLASLNESVRSSEPELSCYPPWFQGALCLESLESGNHSPIVPNHVFIPGDVPSGQYAFPQKEHSKTSEPRPWRTMHLSEQEQPTELTCLSVTGFTALFIQAVGTTSCTVVLWDLETQSMQCFSLSQKCTPVDISGDQQLCLALTENGLSLILFGLTQEEFLNRLMIHGSASTVDSLCHLNGWGRCSIPIHALEAGIENRQLDTVDFFLKSKENLLTPSSKSPAPDQQQHFSSQLYLRQVEEMTPALDLLCSAIRESDSETQSKHFAEQLLHLTLSFLNKQMRELFDHTEELDEHLQKGAAILTSYINELRTFMIKFPWKPGDAIDESDENEEVLTVKEGQVWEELRSEEVIADAILNNRIPEAQTFFRITGHSAQRLEELVRIGLDLAFDSLKKNSVEEASRLLRNMGFSVEDELLKISFYTTDKNIRDFLVEILKEKECFSEKERRTVDFVHQAERLYSGHFQENAPMQAFPRYWIKEQDCFKHKSVLDTFLKCDTKDEFTKQDHRIALNWAHWWDRQTQECILLPRISSEEYKAHSPEALWRHLTARHDWSSISLWMEEFQAQETVSPQQSKWPPLSAAVIEQNTCCSRHMRNAILDQLARCGIFLASELEDFELLLLRLSRIGGVMQDALPVQSYRSSAGCNFDSQVILYCLEHGLQHLLYVYLDYYKLSPGNCPFLEKKELHEAHPWLEFLVQCRQVSSNLTDPKLIFQASLANAQISIPTNQASVSSMLLEGHTLLALATTMYAPGGVSQVIQHEDSENCLKKVDPQLLKMALTPYPKLKAALFPQCTAPSILPSDITLYHLIQSLPPFDPSRLFGWQSANTLAIGDAAGQLPHFSSPDLVSKYAVVEQLSYTYYLHHGRPSFAFGTFLVQELIKSKTPKQLIQQVGKEAYTLGLSSFHNPSVGAACVCFLELLGLSSLKLRVDLKMANVVLGSRRRNEDAHPSFIRESLAEKLSKLADGDRATTEELLVLLEEGVWDSIEQQGFNRLSSESSSQWSLVLQFCMLHDMKLSVSYLRECAKANDWLQFLVHSQLHNYHPEEVETLLQYFSPVLQSHLKLASEKLSSGSISKDDSCLQELQKNKETSDFFEILHRCSDESASWCWLLAEAVRHRVPILSVLASCIQGASAVPCLCVWIVTSVEDKVAAEAIEHIQISVEDHHWSLEDLSIIWRTVLTRRKIHTLIRGFRLFIKDSPLLLIMEMYELCVFFKNYGKAKVKLVEFQKSLEMLDTVATRVLPVIPATWMREQVCFLLKLMPQQCETQYELQKVLQLFVGMEQLFSDGPDVQKLYRLSQVLKDTPITISPAVISSYSTESLQRECRSILEKLKADGQFAVARRVAELASLPVDGLVIEQLTQEMQMLTHTQQWSLKQARLDFWRKCHENFKKNSVSNRAASSFFSSQAPEASEHPAEQGSLEERHLLLTLAGHWLAQEEPVPVEELEELEKQIWLCRIAQHTCGGAEEETKPSLSQHKLAPAELSSDSSASEFSFSKLAALNTSKYLDLNGLPSKEMCENTLEHREQESLNTLIGQLLDGGCVHEASRVCRYFRVYSQDLVLLLHCRALASAEASMEDLHSEIRALLSNATLPEDLESPGVPLRKVHSTSSLDSLSFAMVPPTDEVARSLQTLISRCLHGKDYCRQVLCLYELAKELGCSYGDVATRDSEAMLRAILASQRPDRCRQAQVFINTQGLEPDTVAELVAEEVTRELLTPSEGAGEKQPFNLAEESQTFLQLTALCQDRTLVGMKLLDKIPSVPHGELSCTTELLILAHHCFTCACYMEGIIRVLQAARMLTDNHLAPNEEYGLVVRLLTGIGRYNEMTYIFDLLHQKHYFEVLMRKKLDPTGTLKTALLDYIKRCHPGDSEKHNMIALCFSMCREIGENHEAAACIQLKLIESQPWEESLKDGAQLKQLLLKALTLMLDAAESYAKDSCVRQALHCNRLTKLITLQIHFLNSGQNTMLINLGHQKLMDCIMTLPRFYQASIVAEAYDFVPDWAEVLYQQVILKGDFSYLEEFKQQKLLKPNIFEDISKKYKQHQPTDRVTENLKKLLSYCEDIYLYYKLAYEHKFFEIVNMLLKDPQTGCCLKDMLAG", "length": 2428, "header": "tr|A0A0G2JZP7-1|A0A0G2JZP7_RAT Isoform 1 of SPG11 vesicle-trafficking-associated, spatacsin OS=Rattus norvegicus OX=10116 GN=Spg11 PE=4 SV=2 CANONICAL=A0A0G2JZP7-1" }, "locus": { "chromosome": "3", "start_pos": 109072839, "end_pos": 109008219, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000080253.2", "url": "https://www.ensembl.org/id/ENSRNOT00000080253.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000071131.2", "url": "https://www.ensembl.org/id/ENSRNOP00000071131.2" } ] } }, { "isoform_ac": "A0A8I6G5Q3-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7#A0A8I6G5Q3-1", "sequence": { "sequence": "MAAKPGPGSAASPGCAGAMERVLPMLLVRIPAEETAQLGPRAQLHRELEALGSLTAAGSLQVLSLAPGSRGGSSCRLQGPFRQFLWEESQNSTSADKPRVLVAREDCGLLIYEFDLRDGRCDAALLHSCCGRTLQKLTEDQGVSISFKSLRILSFDNSTSLLLINECLVVRVVFPGRESGIGVLGCLSLPLPAQAVDTIIDVQLCKRFLFLLSTLGWIHIFDTVKGMHVARVDLALPREDSEQQEPASISSFMSLKVSRDLDVLLLVSSSSTAVALNLHLYFRLHPGHLLCEGTLQDLPIEGPTGIDEDDLVNSAHNMKLTKVSFQVDRSWRAQLASLNESVRSSEPELSCYPPWFQGALCLESLESGNHSPIVPNHVFIPGDVPSGQYAFPQKEHSKTSEPRPWRTMHLSEQEQPTELTCLSVTGFTALFIQAVGTTSCTVVLWDLETQSMQCFSLSQKCTPVDISGDQQLCLALTENGLSLILFGLTQEEFLNRLMIHGSASTVDSLCHLNGWGRCSIPIHALEAGIENRQLDTVDFFLKSKENLLTPSSKSPAPDQQQHFSSQLYLRQVEEMTPALDLLCSAIRESDSETQSKHFAEQLLHLTLSFLNKQMRELFDHTEELDEHLQKGAAILTSYINELRTFMIKFPWKPGDAIDESDENEEVLTVKEGQVWEELRSEEVIADAILNNRIPEAQTFFRITGHSAQRLEELVRIGLDLAFDSLKKNSVEEASRLLRNMGFSVEDELLKISFYTTDKNIRDFLVEILKEKECFSEKERRTVDFVHQAERLYSGHFQENAPMQAFPRYWIKEQDCFKHKSVLDTFLKCDTKDEFTKQDHRIALNWAHWWDRQTQECILLPRISSEEYKAHSPEALWRHLTARHDWSSISLWMEEFQAQETVSPQQSKWPPLSAAVIEQNTCCSRHMRNAILDQLARCGIFLASELEDFELLLLRLSRIGGVMQDALPVQSYRSSAGCNFDSQVILYCLEHGLQHLLYVYLDYYKLSPGNCPFLEKKELHEAHPWLEFLVQCRQVSSNLTDPKLIFQASLANAQISIPTNQASVSSMLLEGHTLLALATTMYAPGGVSQSLPPFDPSRLFGWQSANTLAIGDAAGQLPHFSSPDLVSKYAVVEQLSYTYYLHHGRPSFAFGTFLVQELIKSKTPKQLIQQVGKEAYTLGLSSFHNPSVGAACVCFLELLGLSSLKLRVDLKMANVVLGSRRRNEDAHPSFIRESLAEKLSKLADGDRATTEELLVLLEEGVWDSIEQQGFNRLSSESSSQWSLVLQFCMLHDMKLSVSYLRECAKANDWLQFLVHSQLHNYHPEEVETLLQYFSPVLQSHLKLASEKLSSGSISKDDSCLQELQKNKETSDFFEILHRCSDESASWCWLLAEAVRHRVPILSVLASCIQGASAVPCLCVWIVTSVEDKVAAEAIEHIQISVEDHHWSLEDLSIIWRTVLTRRKIHTLIRGFRLFIKDSPLLLIMEMYELCVFFKNYGKAKVKLVEFQKSLEMLDTVATRVLPVIPATWMREQVCFLLKLMPQQCETQYELQKVLQLFVGMEQLFSDGPDVQKLYRLSQVLKDTPITISPAVISSYSTESLQRECRSILEKLKADGQFAVARRVAELASLPVDGLVIEQLTQEMQMLTHTQQWSLKQARLDFWRKCHENFKKNSVSNRAASSFFSSQAPEASEHPAEQGSLEERHLLLTLAGHWLAQEEPVPVEELEELEKQIWLCRIAQHTCGGAEEETKPSLSQHKLAPAELSSDSSASEFSFSKLAALNTSKYLDLNGLPSKEMCENTLEHREQESLNTLIGQLLDGGCVHEASRVCRYFRVYSQDLVLLLHCRALASAEASMEDLHSEIRALLSNATLPEDLESPGVPLRKVHSTSSLDSLSFAMVPPTDEVARSLQTLISRCLHGKDYCRQVLCLYELAKELGCSYGDVATRDSEAMLRAILASQRPDRCRQAQVFINTQGLEPDTVAELVAEEVTRELLTPSEGAGEKQPFNLAEESQTFLQLTALCQDRTLVGMKLLDKIPSVPHGELSCTTELLILAHHCFTCACYMEGIIRVLQAARMLTDNHLAPNEEYGLVVRLLTGIGRYNEMTYIFDLLHQKHYFEVLMRKKLDPTGTLKTALLDYIKRCHPGDSEKHNMIALCFSMCREIGENHEAAACIQLKLIESQPWEESLKDGAQLKQLLLKALTLMLDAAESYAKDSCVRQALHCNRLTKLITLQIHFLNSGQNTMLINLGHQKLMDCIMTLPRFYQASIVAEAYDFVPDWAEVLYQQVILKGDFSYLEEFKQQKLLKPNIFEDISKKYKQHQPTDRVTENLKKLLSYCEDIYLYYKLAYEHKFFEIVNMLLKDPQTGCCLKDMLAG", "length": 2374, "header": "tr|A0A8I6G5Q3-1|A0A0G2JZP7_RAT Computationally mapped isoform of SPG11 vesicle-trafficking-associated, spatacsin OS=Rattus norvegicus OX=10116 GN=Spg11 PE=4 SV=1 CANONICAL=A0A0G2JZP7-1" }, "locus": { "chromosome": "3", "start_pos": 109072839, "end_pos": 109008219, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000097776.1", "url": "https://www.ensembl.org/id/ENSRNOT00000097776.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000081282.1", "url": "https://www.ensembl.org/id/ENSRNOP00000081282.1" } ] } }, { "isoform_ac": "D3Z9Z3-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7#D3Z9Z3-1", "sequence": { "sequence": "MAAKPGPGSAASPGCAGAMERVLPMLLVRIPAEETAQLGPRAQLHRELEALGSLTAAGSLQVLSLAPGSRGGSSCRLQGPFRQFLWEESQNSTSADKPRVLVAREDCGLLIYEFDLRDGRCDAALLHSCCGRTLQKLTEDQGVSISFKSLRILSFDNSTSLLLINECLVVRVVFPGRESGIGVLGCLSLPLPAQAVDTIIDVQLCKRFLFLLSTLGWIHIFDTVKGMHVARVDLALPREDSEQQEPASISSFMSLKVSRDLDVLLLVSSSSTAVALNLHLYFRLHPGHLLCEGTLQDLPIEGPTGIDEDDLVNSAHNMKLTKVSFQVDRSWRAQLASLNESVRSSEPELSCYPPWFQGALCLESLESGNHSPIVPNHVFIPGDVPSGQYAFPQKEHSKTSEPRPWRTMHLSEQEQPTELTCLSVTGFTALFIQAVGTTSCTVVLWDLETQSMQCFSLSQKCTPVDISGDQQLCLALTENGLSLILFGLTQEEFLNRLMIHGSASTVDSLCHLNGWGRCSIPIHALEAGIENRQLDTVDFFLKSKENLLTPSSKSPAPDQQQHFSSQLYLRQVEEMTPALDLLCSAIRESDSETQSKHFAEQLLHLTLSFLNKQMRELFDHTEELDEHLQKGAAILTSYINELRTFMIKFPWKPGDAIDESDENEEVLTVKEGQVWEELRSEEVIADAILNNRIPEAQTFFRITGHSAQRLEELVRIGLDLAFDSLKKNSVEEASRLLRNMGFSVEDELLKISFYTTDKNIRDFLVEILKEKECFSEKERRTVDFVHQAERLYSGHFQENAPMQAFPRYWIKEQDCFKHKSVLDTFLKCDTKDEFTKQDHRIALNWAHWWDRQTQECILLPRISSEEYKAHSPEALWRHLTARHDWSSISLWMEEFQAQETVSPQQSKWPPLSAAVIEQNTCCSRHMRNAILDQLARCGIFLASELEDFELLLLRLSRIGGVMQDALPVQSYRSSAGCNFDSQVILYCLEHGLQHLLYVYLDYYKLSPGNCPFLEKKELHEAHPWLEFLVQCRQVSSNLTDPKLIFQASLANAQISIPTNQASVSSMLLEGHTLLALATTMYAPGGVSQVIQHEDSENCLKKVDPQLLKMALTPYPKLKAALFPQCTAPSILPSDITLYHLIQSLPPFDPSRLFGWQSANTLAIGDAAGQLPHFSSPDLVSKYAVVEQLSYTYYLHHGRPSFAFGTFLVQELIKSKTPKQLIQQVGKEAYTLGLSSFHNPSVGAACVCFLELLGLSSLKLRVDLKMANVVLGSRRRNEDAHPSFIRESLAEKLSKLADGDRATTEELLVLLEEGVWDSIEQQGFNRLSSESSSQWSLVLQFCMLHDMKLSVSYLRECAKANDWLQFLVHSQLHNYHPEEVETLLQYFSPVLQSHLKLASEKLSSGSISKDDSCLQELQKNKETSDFFEILHRCSDESASWCWLLAEAVRHRVPILSVLASCIQGASAVPCLCVWIVTSVEDKVAAEAIEHIQISVEDHHWSLEDLSIIWRTVLTRRKIHTLIRGFRLFIKDSPLLLIMEMYELCVFFKNYGKAKVKLVEFQKSLEMLDTVATRVLPVIPATWMREQVCFLLKLMPQQCETQYELQKVLQLFVGMEQLFSDGPDVQKLYRLSQVLKDTPITISPAVISSYSTESLQRECRSILEKLKADGQFAVARRVAELASLPVDGLVIEQLTQEMQMLTHTQQWSLKQARLDFWRKCHENFKKNSVSNRAASSFFSSQAPEASEHPAEQGSLEERHLLLTLAGHWLAQEEPVPVEELEELEKQIWLCRIAQHTCGGAEEETKPSLSQHKLAPAELSSDSSASEFSFSKLAALNTSKYLDLNGLPSKEMCENTLEHREQESLNTLIGQLLDGGCVHEASRVCRYFRVYSQDLVLLLHCRALASAEASMEDLHSEIRALLSNATLPEDLESPGVPLRKVHSREKQPFNLAEESQTFLQLTALCQDRTLVGMKLLDKIPSVPHGELSCTTELLILAHHCFTCACYMEGIIRVLQAARMLTDNHLAPNEEYGLVVRLLTGIGRYNEMTYIFDLLHQKHYFEVLMRKKLDPTGTLKTALLDYIKRCHPGDSEKHNMIALCFSMCREIGENHEAAACIQLKLIESQPWEESLKDGAQLKQLLLKALTLMLDAAESYAKDSCVRQALHCNRLTKLITLQIHFLNSGQNTMLINLGHQKLMDCIMTLPRFYQASIVAEAYDFVPDWAEVLYQQVILKGDFSYLEEFKQQKLLKPNIFEDISKKYKQHQPTDRVTENLKKLLSYCEDIYLYYKLAYEHKFFEIVNMLLKDPQTGCCLKDMLAG", "length": 2315, "header": "tr|D3Z9Z3-1|A0A0G2JZP7_RAT Computationally mapped isoform of SPG11 vesicle-trafficking-associated, spatacsin OS=Rattus norvegicus OX=10116 GN=Spg11 PE=4 SV=2 CANONICAL=A0A0G2JZP7-1" }, "locus": { "chromosome": "3", "start_pos": 109072839, "end_pos": 109008219, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000022875.7", "url": "https://www.ensembl.org/id/ENSRNOT00000022875.7" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000022875.6", "url": "https://www.ensembl.org/id/ENSRNOP00000022875.6" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.", "journal": "Nature genetics", "date": "2007", "authors": "Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A", "evidence": [ { "database": "RefSeq", "id": "NP_001178500", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001178500" } ], "reference": [ { "type": "PubMed", "id": "17322883", "url": "https://glygen.org/publication/PubMed/17322883" } ] }, { "title": "Integral and associated lysosomal membrane proteins.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2007", "authors": "Schroder B, Wrocklage C, Pan C, Jager R, Kosters B, Schafer H, Elsasser HP, Mann M, Hasilik A", "evidence": [ { "database": "RefSeq", "id": "NP_001178500", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001178500" } ], "reference": [ { "type": "PubMed", "id": "17897319", "url": "https://glygen.org/publication/PubMed/17897319" } ] }, { "title": "Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia.", "journal": "Human molecular genetics", "date": "2014", "authors": "Perez-Branguli F, Mishra HK, Prots I, Havlicek S, Kohl Z, Saul D, Rummel C, Dorca-Arevalo J, Regensburger M, Graef D, Sock E, Blasi J, Groemer TW, Schlotzer-Schrehardt U, Winkler J, Winner B", "evidence": [ { "database": "RefSeq", "id": "NP_001178500", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001178500" } ], "reference": [ { "type": "PubMed", "id": "24794856", "url": "https://glygen.org/publication/PubMed/24794856" } ] } ], "pathway": [ { "id": "rno:311372", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:311372", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q3UHA3-1", "protein_name": "Spatacsin", "gene_name": "Spg11", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAAQPGPGSAASPGCAGAMERVLPMLLVRIPAEETAQLGPRAQLHRELEALGSLTAAGSLQVLSLAPGSRGGSSCCLPGPFRQFLWEESQNSTSRDRPKLLVAREDYELLVYEFDLRDGRCDAALLHGCCGRTLQKLTEDQGVSISFKSLRILSFHNNTSLLLINRCLILRVVFPGKEPGVPVLDCLSLPLPAQAADMIIDAQLCERFLFVLSTVGLIYIFNTMDGTQVAQVDLALLREDSEQLEPASVSSFTSLRVSQDLDVLVLVSSASTAVALNLHLYFRQHPGHLLCEGTLEDLPIEGPPGIDEDDLVNSAHNMKLSKVSFQVDRSWRAQLLSLNESVRGSEPEVSCCAPWFQSALRLESLESADHTPTVPTHVFIPGDVPRGRCAFPQKEHVKSSDPGRPWKTMHLSEHEQPTELTCLSVTGFTALFTWAVGATSCTIGLWDLETQSMQCFSLSQKCTPVDIGGDQQLCLALTDDGLSLILFGLTQEEFLNRLMIHGSASTVDSLCHLNGWGRCSIPIHALEAGIENRQLDTVDFFLKSKENLLTPSSQSPAPDQQHPFSSHLYLRQVEEMSPALDLLCSAIRESDSETQSKHFAEQLLHLTLSFLNKQIRELCVHTEELDEHFQKGVAILTSYINELRTFMIKFPWKPGDAIDESDVNEGVVTVKEDRVWEELSFEEVIADAILNNRIPEAQTFFRISGHSAQRLEELVRIGLDLAFDSLKKNNVEEASRLLRNMGFSVEDELLKICFYTTDKNIRDFLVEILKEKECFSEKERRTVDFVHQLEALYSGHFQENAQTQAFPRYWIKEQDCFKHKSVLDTFLKYDKKDEFHKQDHRIALNWAHRWDLQTQECILLRRLSPEEYKARSPEALWRHLTARHDCSSISLWMEEFQTQETESPQQSKWPPLSADIIEQGTCCHSHMRNEILDKLARSGIFLASELEDFERLLLRLSRIGGVMQDSLPVQSYKSRAGCDFHSRFILYCLEHGLQHLLYTYLDYYKLSPGNCPFLEKKELHEAHPWLEFLVQCRQVSSNLTDPKLIFQASLANAQILIPTNQASVSSMLLEGHTLLALATTMYAPGGVSQVIQNEDSENCLKKVDPQLLKVALTPYPKLKAALFPQYTAPSILPSDITLYHLIQSLPPFDPSRLFVWQSANTLAIGDTGSQLPHFSSPDLVSKYAVLERLNYAYYLHHGRPSFAFGTFLVQELIKSKTPKQLIQQVGKEAYTLGLSSFTNPSVGAACVCFLELLGLSSLKLRVDLKMANVILGSKRRDEDARSSFIRESLAEKLSKLADGDRAATEELLVLLEEGVWDSIEQQGFSRLSSESSSQWALVLQFCMLHDRKLSVSYLRECAKANDWLQFLVHSQLHNYHPAEVESLLQYFSPVLQSHLKLASEKLSSGSISRDDSCLQELQKNKGETSNFFEILHRCSDESTSWSWLLAEAVRHRAPILSVLASCVQGASVVSCLCVWIVTSVEDKVAAEAMGHIQISVEDHHWSLKDLSIIWRTVLTRRKSHTLIRGFQLFIKDSPLLLIMEMYELCMFFKNYEKAKVKLLEFQKSLETLDTVAARVLPIIPASWMKDQVCFLLKLMPQQCETQYELGKLLQLFVGTEQLFSDGPDVQKLCLLSQVLKDTPIAISPAVISSYSTENFQRECRSILEKLKADGQFAVARRVAELAALPVDSLLIEQLTQEMQTLTHTPQWSLKQERLGFWKKCHEIFKKNSISKRAASSFFSSQAPEVSEHPAEQGSLEERHLLLTLAGHWLAQEEPVPVEELEGLEKQIWICRVAQHTCGGAEEEAKPSLSQHKLAAAELSFDSLASELSFSKLAALNTSKYLGLNDLPSKTTCENRLKHKEQESLNTLIGQLLDGGCVHEASRVCQYFRFYSQDLVLVLHCRALASAEATMEDLHSEIRALLSSAAQPEDLESPSVPLRKAHSSSSLDSQSFVMVPPTDEVAQNLHTLISKCLHGKNYCRQVLCLYELAKDLGCSYGDVAARDSEAMLRAILASQRPDRCRQAQVFINTQGLEADTVAELVAEEVTRELLTPSEGTGEKQPFNPAEESQTFLQLTALCQDRTLVGMKLLDKIPSVPHGELSCTTELLILAHHCFTFTCHMEGITRVLQAARMLTDNHLAPNEEYGLVVRLLTGIGRYNEMTYIFDLLHQKHYFEVLMRKKLDPTGTLKTALLDYIKRCRPGDSEKHNMIALCFSMCREIGENHEAAACIQLKLIESQPWEESLKDGAQLKQLLLKALTLMLDAAESYAKDSCVRQALHCNRLTKLITLQIHFLNSGQNTMLINLGHQKLMDCIMTLPRFYQASIVAEAYDFVPDWAEVLYQQVILKGDFSYLEEFKQQKLLRPNIFEDISKKYKQHQPTDRVTENLKKLLSYCEDIYLYYKLAYEHKFFEIVNMLLKDPQTGCCLKDMLAG", "length": 2430 }, "evidence": [ { "id": "41492625", "url": "http://www.informatics.jax.org/homology/41492625", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q96JI7-1", "protein_name": "Spatacsin", "gene_name": "SPG11", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MAAEEGVASAASAGGSWGTAAMGRVLPMLLVPVPAEAMGQLGSRAQLRTQPEALGSLTAAGSLQVLSLTPGSRGGGRCCLEGPFWHFLWEDSRNSSTPTEKPKLLALGENYELLIYEFNLKDGRCDATILYSCSREALQKLIDDQDISISLLSLRILSFHNNTSLLFINKCVILHIIFPERDAAIRVLNCFTLPLPAQAVDMIIDTQLCRGILFVLSSLGWIYIFDVVDGTYVAHVDLALHKEDMCNEQQQEPAKISSFTSLKVSQDLDVAVIVSSSNSAVALNLNLYFRQHPGHLLCERILEDLPIQGPKGVDEDDPVNSAYNMKLAKFSFQIDRSWKAQLSSLNETIKNSKLEVSCCAPWFQDILHLESPESGNHSTSVQSWAFIPQDIMHGQYNVLQKDHAKTSDPGRSWKIMHISEQEEPIELKCVSVTGFTALFTWEVERMGYTITLWDLETQGMQCFSLGTKCIPVDSSGDQQLCFVLTENGLSLILFGLTQEEFLNRLMIHGSASTVDTLCHLNGWGRCSIPIHALEAGIENRQLDTVNFFLKSKENLFNPSSKSSVSDQFDHLSSHLYLRNVEELIPALDLLCSAIRESYSEPQSKHFSEQLLNLTLSFLNNQIKELFIHTEELDEHLQKGVNILTSYINELRTFMIKFPWKLTDAIDEYDVHENVPKVKESNIWKKLSFEEVIASAILNNKIPEAQTFFRIDSHSAQKLEELIGIGLNLVFDNLKKNNIKEASELLKNMGFDVKGQLLKICFYTTNKNIRDFLVEILKEKNYFSEKEKRTIDFVHQVEKLYLGHFQENMQIQSFPRYWIKEQDFFKHKSVLDSFLKYDCKDEFNKQDHRIVLNWALWWDQLTQESILLPRISPEEYKSYSPEALWRYLTARHDWLNIILWIGEFQTQHSYASLQQNKWPLLTVDVINQNTSCNNYMRNEILDKLARNGVFLASELEDFECFLLRLSRIGGVIQDTLPVQNYKTKEGWDFHSQFILYCLEHSLQHLLYVYLDCYKLSPENCPFLEKKELHEAHPWFEFLVQCRQVASNLTDPKLIFQASLANAQILIPTNQASVSSMLLEGHTLLALATTMYSPGGVSQVVQNEENENCLKKVDPQLLKMALTPYPKLKTALFPQCTPPSVLPSDITIYHLIQSLSPFDPSRLFGWQSANTLAIGDAWSHLPHFSSPDLVNKYAIVERLNFAYYLHNGRPSFAFGTFLVQELIKSKTPKQLIQQVGNEAYVIGLSSFHIPSIGAACVCFLELLGLDSLKLRVDMKVANIILSYKCRNEDAQYSFIRESVAEKLSKLADGEKTTTEELLVLLEEGTWNSIQQQEIKRLSSESSSQWALVVQFCRLHNMKLSISYLRECAKANDWLQFIIHSQLHNYHPAEVKSLIQYFSPVIQDHLRLAFENLPSVPTSKMDSDQVCNKCPQELQGSKQEMTDLFEILLQCSEEPDSWHWLLVEAVKQQAPILSVLASCLQGASAISCLCVWIITSVEDNVATEAMGHIQDSTEDHTWNLEDLSVIWRTLLTRQKSKTLIRGFQLFFKDSPLLLVMEMYELCMFFRNYKEAEAKLLEFQKSLETLNTAATKVHPVIPAMWLEDQVCFLLKLMLQQCKTQYELGKLLQLFVEREHLFSDGPDVKKLCILCQILKDTSIAINHTIITSYSIENLQHECRSILERLQTDGQFALARRVAELAELPVDNLVIKEITQEMQTLKHIEQWSLKQARIDFWKKCHENFKKNSISSKAASSFFSTQAHVACEHPTGWSSMEERHLLLTLAGHWLAQEDVVPLDKLEELEKQIWLCRITQHTLGRNQEETEPRFSRQISTSGELSFDSLASEFSFSKLAALNTSKYLELNSLPSKETCENRLDWKEQESLNFLIGRLLDDGCVHEASRVCRYFHFYNPDVALVLHCRALASGEASMEDLHPEIHALLQSAELLEEEAPDIPLRRVHSTSSLDSQKFVTVPSSNEVVTNLEVLTSKCLHGKNYCRQVLCLYDLAKELGCSYTDVAAQDGEAMLRKILASQQPDRCKRAQAFISTQGLKPDTVAELVAEEVTRELLTSSQGTGHKQMFNPTEESQTFLQLTTLCQDRTLVGMKLLDKISSVPHGELSCTTELLILAHHCFTLTCHMEGIIRVLQAAHMLTDNHLAPSEEYGLVVRLLTGIGRYNEMTYIFDLLHKKHYFEVLMRKKLDPSGTLKTALLDYIKRCRPGDSEKHNMIALCFSMCREIGENHEAAARIQLKLIESQPWEDSLKDGHQLKQLLLKALTLMLDAAESYAKDSCVRQAQHCQRLTKLITLQIHFLNTGQNTMLINLGRHKLMDCILALPRFYQASIVAEAYDFVPDWAEILYQQVILKGDFNYLEEFKQQRLLKSSIFEEISKKYKQHQPTDMVMENLKKLLTYCEDVYLYYKLAYEHKFYEIVNVLLKDPQTGCCLKDMLAG", "length": 2443 }, "evidence": [ { "id": "41492625", "url": "http://www.informatics.jax.org/homology/41492625", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "21545838" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 19, "go_terms": [ { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "axo-dendritic transport", "id": "GO:0008088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008088", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "skeletal muscle fiber development", "id": "GO:0048741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048741", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "autophagosome organization", "id": "GO:1905037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905037", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "regulation of store-operated calcium entry", "id": "GO:2001256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001256", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "motor neuron apoptotic process", "id": "GO:0097049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097049", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "phagosome-lysosome fusion involved in apoptotic cell clearance", "id": "GO:0090389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090389", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "walking behavior", "id": "GO:0090659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090659", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "corticospinal tract morphogenesis", "id": "GO:0021957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021957", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "synaptic vesicle transport", "id": "GO:0048489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048489", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "motor behavior", "id": "GO:0061744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061744", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" }, { "name": "localization within membrane", "id": "GO:0051668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051668", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JZP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JZP7" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1037, "end_pos": 1039, "annotation": "n_glycosylation_sequon" }, { "start_pos": 157, "end_pos": 159, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1834, "end_pos": 1836, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1921, "end_pos": 1923, "annotation": "n_glycosylation_sequon" }, { "start_pos": 339, "end_pos": 341, "annotation": "n_glycosylation_sequon" }, { "start_pos": 369, "end_pos": 371, "annotation": "n_glycosylation_sequon" }, { "start_pos": 91, "end_pos": 93, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ] }