{ "uniprot_canonical_ac": "A2VCW9-1", "ptm_annotation": [], "sequence": { "header": "sp|A2VCW9-1|AASS_RAT Isoform 1 of Alpha-aminoadipic semialdehyde synthase, mitochondrial OS=Rattus norvegicus OX=10116 GN=Aass PE=2 SV=1 CANONICAL=A2VCW9-1", "length": 926, "sequence": "MLRAQRLRLARLRACVSRGLHHKPVMALRREDVNAWERRAPLAPKHIKGITKLGYKVLIQPSNRRAIHDKEYVRAGGILQEDITEACLILGVKRPPEEKLMSKKTYAFFSHTIKAQEANMSLLDEVLKQEIRLIDYEKMVDHRGSRIVAFGHWAGVAGMINILHGMGLRLLALGHHTPFMHLGMAHNYRNSSQAVQAVRDAGYEISLGLMPKSIGPLTFVFTGTGNVSKGAQEVFNELPCEYVEPHELKEVSKTGDLRKVYGTVLSRHHHLVRKTDGVYDPVEYEKYPERYISRFNADIAPYTTCLINGIYWEQNTPRLLTRQDAQSLLVPVKSSVVPVEGCPELPHKLVAICDISADTGGSIDFMTECTTIERPFCMYDADQHIIHDSVEGSGILMCSIDNLPAQLPIEATEYFGDMLYPYVEEMLLSDASQPLESQNFSPVVRDAVITSNGLLTDKYKYIQKLRESRERIQFLSMSTKKKVLVLGSGYVSGPVLEYLSRGNNIEITLGSDMTNQMQQLSKKYDINTVNVTVGKQEDKLQSLVESQDLVISLLPYVLHPVVAKACIDSKVNMVTASYITPAMKELEKSVDDAGITVIGELGLDPGLDHMLAMETIDKAKDLGATIESYVSYCGGLPAPEHSDNPLRYKFSWSPVGVLMNIMQPASYLLNGKVVNVTGGVSFLNSVTPMDYFPGLNLEGYPNRDSTKYAEIYGISSAHTLLRGTLRYKGYSKALNGFVKLGLINRETYPALRPEANPLTWKQLLCDLVGISRSSSCEKLKEVVFTKLGGDSTQLEAAEWLGLLGDEQVPQAESIVDAFSKHLVSKLSYGPEEKDMIVMRDSFGIRHPSGHLENKTIDLVVYGDFNGFSAMAKTVGLPTAMAAKMLLDGEIETKGLMGPFSKEIYGPILERIKAEGIVFNTQSTIKL" }, "uniprot_id": "D4ACE9_RAT", "glycation": [], "keywords": [], "species": [ { "common_name": "Rat", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VCW9", "id": "A2VCW9", "database": "UniProtKB" } ], "name": "Rattus norvegicus", "taxid": 10116 } ], "reaction_enzymes": [ { "gene_name": "Aass", "uniprot_ac": "A2VCW9", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VCW9", "id": "A2VCW9", "database": "UniProtKB" } ], "ec_number": "1.5.1.8", "activity": "N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NADP(+) + H(2)O = L-lysine + 2-oxoglutarate + NADPH." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VCW9", "id": "A2VCW9", "database": "UniProtKB" } ], "ec_number": "1.5.1.9", "activity": "N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NAD(+) + H(2)O = L-glutamate + (S)-2-amino-6-oxohexanoate + NADH." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VCW9", "id": "A2VCW9", "database": "UniProtKB" } ], "ec_number": "1.5.1.9", "activity": "" }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VCW9", "id": "A2VCW9", "database": "UniProtKB" } ], "ec_number": "1.5.1.8", "activity": "" } ] }, { "gene_name": "Aass", "uniprot_ac": "Q99K67", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/Q99K67", "id": "Q99K67", "database": "UniProtKB" } ], "ec_number": "1.5.1.8", "activity": "N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NADP(+) + H(2)O = L-lysine + 2-oxoglutarate + NADPH." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/Q99K67", "id": "Q99K67", "database": "UniProtKB" } ], "ec_number": "1.5.1.9", "activity": "N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NAD(+) + H(2)O = L-glutamate + (S)-2-amino-6-oxohexanoate + NADH." } ] }, { "gene_name": "AASS", "uniprot_ac": "Q9UDR5", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/Q9UDR5", "id": "Q9UDR5", "database": "UniProtKB" } ], "ec_number": "1.5.1.8", "activity": "N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NADP(+) + H(2)O = L-lysine + 2-oxoglutarate + NADPH." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/Q9UDR5", "id": "Q9UDR5", "database": "UniProtKB" } ], "ec_number": "1.5.1.9", "activity": "N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NAD(+) + H(2)O = L-glutamate + (S)-2-amino-6-oxohexanoate + NADH." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/Q9UDR5", "id": "Q9UDR5", "database": "UniProtKB" } ], "ec_number": "1.5.1.9", "activity": "" }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/Q9UDR5", "id": "Q9UDR5", "database": "UniProtKB" } ], "ec_number": "1.5.1.8", "activity": "" } ] } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/10567240", "type": "PubMed", "id": "10567240" } ], "title": "Lysine degradation through the saccharopine pathway in mammals: involvement of both bifunctional and monofunctional lysine-degrading enzymes in mouse.", "journal": "The Biochemical journal", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094433.1", "id": "NP_001094433.1", "database": "RefSeq" } ], "authors": "Papes F, Kemper EL, Cord-Neto G, Langone F, Arruda P", "date": "1999" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/6434529", "type": "PubMed", "id": "6434529" } ], "title": "Familial hyperlysinemias. Purification and characterization of the bifunctional aminoadipic semialdehyde synthase with lysine-ketoglutarate reductase and saccharopine dehydrogenase activities.", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094433.1", "id": "NP_001094433.1", "database": "RefSeq" } ], "authors": "Markovitz PJ, Chuang DT, Cox RP", "date": "1984" } ], "uniprot_ac": "A2VCW9", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2VCW9", "type": "synonym", "resource": "RefSeq", "name": "Aass" }, { "url": "https://www.uniprot.org/uniprot/A2VCW9", "type": "recommended", "resource": "UniProtKB", "name": "Aass" } ], "reactions": [ { "output_participant_list": [], "evidence": [ { "url": "https://www.rhea-db.org/rhea/19373", "id": "19373", "database": "Rhea" } ], "name": "", "cellular_location": "plasma membrane", "equation": "H2O + L-saccharopine + NADP(+) = 2-oxoglutarate + H(+) + L-lysine + NADPH", "input_participant_list": [], "enzyme_list": [ "A2VCW9-1", "Q9UDR5-1", "Q99K67-1" ], "id": "19373", "summary": "" }, { "output_participant_list": [], "evidence": [ { "url": "https://www.rhea-db.org/rhea/24520", "id": "24520", "database": "Rhea" } ], "name": "", "cellular_location": "plasma membrane", "equation": "H2O + L-saccharopine + NAD(+) = (S)-2-amino-6-oxohexanoate + H(+) + L-glutamate + NADH", "input_participant_list": [], "enzyme_list": [ "A2VCW9-1", "Q9UDR5-1", "Q99K67-1" ], "id": "24520", "summary": "" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2VCW9#A2VCW9-1", "isoform_ac": "A2VCW9-1", "locus": {}, "sequence": { "header": "sp|A2VCW9-1|AASS_RAT Isoform 1 of Alpha-aminoadipic semialdehyde synthase, mitochondrial OS=Rattus norvegicus OX=10116 GN=Aass PE=2 SV=1 CANONICAL=A2VCW9-1", "length": 926, "sequence": "MLRAQRLRLARLRACVSRGLHHKPVMALRREDVNAWERRAPLAPKHIKGITKLGYKVLIQPSNRRAIHDKEYVRAGGILQEDITEACLILGVKRPPEEKLMSKKTYAFFSHTIKAQEANMSLLDEVLKQEIRLIDYEKMVDHRGSRIVAFGHWAGVAGMINILHGMGLRLLALGHHTPFMHLGMAHNYRNSSQAVQAVRDAGYEISLGLMPKSIGPLTFVFTGTGNVSKGAQEVFNELPCEYVEPHELKEVSKTGDLRKVYGTVLSRHHHLVRKTDGVYDPVEYEKYPERYISRFNADIAPYTTCLINGIYWEQNTPRLLTRQDAQSLLVPVKSSVVPVEGCPELPHKLVAICDISADTGGSIDFMTECTTIERPFCMYDADQHIIHDSVEGSGILMCSIDNLPAQLPIEATEYFGDMLYPYVEEMLLSDASQPLESQNFSPVVRDAVITSNGLLTDKYKYIQKLRESRERIQFLSMSTKKKVLVLGSGYVSGPVLEYLSRGNNIEITLGSDMTNQMQQLSKKYDINTVNVTVGKQEDKLQSLVESQDLVISLLPYVLHPVVAKACIDSKVNMVTASYITPAMKELEKSVDDAGITVIGELGLDPGLDHMLAMETIDKAKDLGATIESYVSYCGGLPAPEHSDNPLRYKFSWSPVGVLMNIMQPASYLLNGKVVNVTGGVSFLNSVTPMDYFPGLNLEGYPNRDSTKYAEIYGISSAHTLLRGTLRYKGYSKALNGFVKLGLINRETYPALRPEANPLTWKQLLCDLVGISRSSSCEKLKEVVFTKLGGDSTQLEAAEWLGLLGDEQVPQAESIVDAFSKHLVSKLSYGPEEKDMIVMRDSFGIRHPSGHLENKTIDLVVYGDFNGFSAMAKTVGLPTAMAAKMLLDGEIETKGLMGPFSKEIYGPILERIKAEGIVFNTQSTIKL" } }, { "url": "https://www.uniprot.org/uniprot/A2VCW9#D4ACE9-1", "isoform_ac": "D4ACE9-1", "locus": { "end_pos": 50152455, "strand": "+", "start_pos": 50200328, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000060530", "id": "ENSRNOT00000060530", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000057271", "id": "ENSRNOP00000057271", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|D4ACE9-1|AASS_RAT Computationally mapped isoform of Alpha-aminoadipic semialdehyde synthase, mitochondrial OS=Rattus norvegicus OX=10116 GN=Aass PE=2 SV=3 CANONICAL=A2VCW9-1", "length": 926, "sequence": "MLRAQRLRLARLRACVSRGLHHKPVMALRREDVNAWERRAPLAPKHIKGITKLGYKVLIQPSNRRAIHDKEYVRAGGILQEDITEACLILGVKRPPEEKLMSKKTYAFFSHTIKAQEANMSLLDEVLKQEIRLIDYEKMVDHRGSRIVAFGQWAGVAGMINILHGMGLRLLALGHHTPFMHLGMAHNYRNSSQAVQAVRDAGYEISLGLMPKSIGPLTFVFTGTGNVSKGAQEVFNELPCEYVEPHELKEVSKTGDLRKVYGTVLSRHHHLVRKTDGVYDPVEYEKYPERYISRFNADIAPYTTFRICGIGWHCGSRRISISIQDCYLIKVKIKLICRVDTCYVAVIFRLVAICDISADTGGSIDFMTECTTIERPFCMYDADQHIIHDSVEGSGILMCSIDNLPAQLPIEATEYFGDMLYPYVEEMLLSDASQPLESQNFSPVVRDAVITSNGLLTDKYKYIQKLRESRERIQFLSMSTKKKVLVLGSGYVSGPVLEYLSRGNNIEITLGSDMTNQMQQLSKKYDINTVNVTVGKQEDKLQSLVESQDLVISLLPYVLHPVVAKACIDSKVNMVTASYITPAMKELEKSVDDAGITVIGELGLDPGLDHMLAMETIDKAKDLGATIESYVSYCGGLPAPEHSDNPLRYKFSWSPVGVLMNIMQPASYLLNGKVVNVTGGVSFLNSVPMDYFPGLNLEGYPNRDSTKYAEIYGISSAHTLLRGTLRYKGYSKALNGFVKLGLINRETYPALRPEANPLTWKQLLCDLVGISRSSSCEKLKEVVFTKLGGDSTQLEAAEWLGLLGDEQVPQAESIVDAFSKHLVSKLSYGPEEKDMIVMRDSFGIRHPSGHLENKTIDLVVYGDFNGFSAMAKTVGLPTAMAAKMLLDGEIETKGLMGPFSKEIYGPILERIKAEGIVFNTQSTIKL" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:296925", "resource": "KEGG Pathway", "id": "rno:296925", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-71064", "description": "Lysine catabolism", "resource": "Reactome", "id": "R-RNO-71064", "name": "Lysine catabolism" } ], "reaction_participants": [], "function": [ { "url": "https://www.uniprot.org/uniprot/A2VCW9#function", "annotation": "Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The N-terminal and the C-terminal contain lysine-oxoglutarate reductase and saccharopine dehydrogenase activity, respectively (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VCW9#function", "id": "A2VCW9", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q99K67-1", "protein_name": "Alpha-aminoadipic semialdehyde synthase, mitochondrial", "sequence": { "length": 926, "sequence": "MLRAQRPRLARLRACLSRGLHHKPVMALRREDVNAWERRAPLAPKHIKGITKLGYKVLIQPSNRRAIHDKEYVRAGGILQEDITEACLILGVKRPPEEKLMSKKTYAFFSHTIKAQEANMNLLDEVLKQEIRLIDYEKMVDHRGSRIVAFGQWAGVAGMINILHGMGLRLLALGHHTPFMHLGMAHNYRNSSQAVQAVRDAGYEISLGLMPKSIGPLTFVFTGTGNVSKGAQEVFNELPCEYVEPHELREVSKTGDLRKVYGTVLSRHHHLVRKTDGVYDPVEYEKYPERYTSRFNTDIAPYTTCLINGIYWEQNTPRLLTRQDAQSLLVPVKSSVVPVEGCPELPHKLVAICDISADTGGSIDFMTECTTIERPFCMYDADQQIIHDSVEGSGILMCSIDNLPAQLPIEATEYFGDMLYPYVEEMLLSDASQPLESQNFSPVVRDAVITSNGLLTDKYKYIQKLRESRERIQFLSMSTKKKVLVLGSGYVSGPVLEYLSRDNNIEITLGSDMTNQMQQLSKKYNINPVSLTVGKQEAKLQSLVESQDLVISLLPYVLHPVVAKACIESRVNMVTASYITPAMKELEKSVDDAGITVIGELGLDPGLDHMLAMETIDTAKELGATVESYVSYCGGLPAPEHSDNPLRYKFSWSPVGVLMNIMQPASYLLNGKVVNVTGGVSFLNSVTPMDYFPGLNLEGYPNRDSIKYAEIYGISSAHTLLRGTLRYKGYSKALNGFVKLGLINREAYPALRPEANPLTWKQLLCDLVGISRSSPCEKLKEVVFTKLGGDNTQLEAAEWLGLLGDEQVPQAESIVDAFSKHLVSKLSYGPEEKDMIVMRDSFGIRHPSGHLENKTIDLVVYGDFNGFSAMAKTVGLPTAMAAKMLLDGEIEAKGLMGPFTKEIYGPILERIKAEGIVFNTQSTIKL" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/4212", "id": "4212", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Aass", "tax_id": 10090 }, { "uniprot_canonical_ac": "Q9UDR5-1", "protein_name": "Lysine ketoglutarate reductase", "sequence": { "length": 926, "sequence": "MLQVHRTGLGRLGVSLSKGLHHKAVLAVRREDVNAWERRAPLAPKHIKGITNLGYKVLIQPSNRRAIHDKDYVKAGGILQEDISEACLILGVKRPPEEKLMSRKTYAFFSHTIKAQEANMGLLDEILKQEIRLIDYEKMVDHRGVRVVAFGQWAGVAGMINILHGMGLRLLALGHHTPFMHIGMAHNYRNSSQAVQAVRDAGYEISLGLMPKSIGPLTFVFTGTGNVSKGAQAIFNELPCEYVEPHELKEVSQTGDLRKVYGTVLSRHHHLVRKTDAVYDPAEYDKHPERYISRFNTDIAPYTTCLINGIYWEQNTPRLLTRQDAQSLLAPGKFSPAGVEGCPALPHKLVAICDISADTGGSIEFMTECTTIEHPFCMYDADQHIIHDSVEGSGILMCSIDNLPAQLPIEATECFGDMLYPYVEEMILSDATQPLESQNFSPVVRDAVITSNGTLPDKYKYIQTLRESRERAQSLSMGTRRKVLVLGSGYISEPVLEYLSRDGNIEITVGSDMKNQIEQLGKKYNINPVSMDICKQEEKLGFLVAKQDLVISLLPYVLHPLVAKACITNKVNMVTASYITPALKELEKSVEDAGITIIGELGLDPGLDHMLAMETIDKAKEVGATIESYISYCGGLPAPEHSNNPLRYKFSWSPVGVLMNVMQSATYLLDGKVVNVAGGISFLDAVTSMDFFPGLNLEGYPNRDSTKYAEIYGISSAHTLLRGTLRYKGYMKALNGFVKLGLINREALPAFRPEANPLTWKQLLCDLVGISPSSEHDVLKEAVLKKLGGDNTQLEAAEWLGLLGDEQVPQAESILDALSKHLVMKLSYGPEEKDMIVMRDSFGIRHPSGHLEHKTIDLVAYGDINGFSAMAKTVGLPTAMAAKMLLDGEIGAKGLMGPFSKEIYGPILERIKAEGIIYTTQSTIKP" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/4212", "id": "4212", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "AASS", "tax_id": 9606 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094433.1", "ac": "NP_001094433.1", "name": "alpha-aminoadipic semialdehyde synthase, mitochondrial precursor", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047130", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VCW9", "id": "A2VCW9", "database": "UniProtKB" } ], "name": "saccharopine dehydrogenase (NADP+, L-lysine-forming) activity", "id": "GO:0047130" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047131", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VCW9", "id": "A2VCW9", "database": "UniProtKB" } ], "name": "saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity", "id": "GO:0047131" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004753", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VCW9", "id": "A2VCW9", "database": "UniProtKB" } ], "name": "saccharopine dehydrogenase activity", "id": "GO:0004753" } ], "total": 3, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VCW9", "id": "A2VCW9", "database": "UniProtKB" } ], "name": "mitochondrion", "id": "GO:0005739" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VCW9", "id": "A2VCW9", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" } ], "total": 2, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033512", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VCW9", "id": "A2VCW9", "database": "UniProtKB" } ], "name": "L-lysine catabolic process to acetyl-CoA via saccharopine", "id": "GO:0033512" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019878", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VCW9", "id": "A2VCW9", "database": "UniProtKB" } ], "name": "lysine biosynthetic process via aminoadipic acid", "id": "GO:0019878" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019477", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VCW9", "id": "A2VCW9", "database": "UniProtKB" } ], "name": "L-lysine catabolic process", "id": "GO:0019477" } ], "total": 3, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 121, "annotation": "n_glycosylation_sequon", "start_pos": 119 }, { "end_pos": 192, "annotation": "n_glycosylation_sequon", "start_pos": 190 }, { "end_pos": 228, "annotation": "n_glycosylation_sequon", "start_pos": 226 }, { "end_pos": 441, "annotation": "n_glycosylation_sequon", "start_pos": 439 }, { "end_pos": 532, "annotation": "n_glycosylation_sequon", "start_pos": 530 }, { "end_pos": 677, "annotation": "n_glycosylation_sequon", "start_pos": 675 }, { "end_pos": 855, "annotation": "n_glycosylation_sequon", "start_pos": 853 } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000039494", "id": "ENSRNOG00000039494", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/296925", "id": "296925", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR005097", "id": "IPR005097", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR007698", "id": "IPR007698", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR007886", "id": "IPR007886", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR032095", "id": "IPR032095", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036291", "id": "IPR036291", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:296925", "id": "rno:296925", "database": "KEGG Pathway" }, { "url": "https://omabrowser.org/oma/group/KMEGRSE/", "id": "KMEGRSE", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=498994at2759", "id": "498994at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF03435", "id": "PF03435", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF05222", "id": "PF05222", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF16653", "id": "PF16653", "database": "Pfam" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A2VCW9", "id": "PR_A2VCW9", "database": "PRO" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-71064", "id": "R-RNO-71064", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094433", "id": "NP_001094433", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094433.1", "id": "NP_001094433.1", "database": "RefSeq" }, { "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1310811", "id": "1310811", "database": "RGD" }, { "url": "https://www.rhea-db.org/rhea/19373", "id": "19373", "database": "Rhea" }, { "url": "https://www.rhea-db.org/rhea/24520", "id": "24520", "database": "Rhea" }, { "url": "https://www.uniprot.org/uniprot/A2VCW9", "id": "A2VCW9", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A2VCW9-1", "id": "A2VCW9-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/D4ACE9", "id": "D4ACE9", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/D4ACE9-1", "id": "D4ACE9-1", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "disease_id": "DOID:9274", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0009388", "resource": "MONDO", "description": "Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.", "name": "hyperlysinemia (disease)", "id": "MONDO:0009388" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009388", "resource": "MONDO", "description": "", "name": "hyperlysinemia type I", "id": "MONDO:0009388" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009388", "resource": "MONDO", "description": "", "name": "hyperlysinemia, type 1", "id": "MONDO:0009388" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009388", "resource": "MONDO", "description": "", "name": "hyperlysinemia", "id": "MONDO:0009388" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009388", "resource": "MONDO", "description": "", "name": "L-lysine NAD-oxido-reductase deficiency", "id": "MONDO:0009388" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009388", "resource": "MONDO", "description": "", "name": "lysine:Alpha-ketoglutarate reductase deficiency", "id": "MONDO:0009388" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009388", "resource": "MONDO", "description": "", "name": "lysine intolerance", "id": "MONDO:0009388" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009388", "resource": "MONDO", "description": "", "name": "lysine alpha-ketoglutarate reductase deficiency", "id": "MONDO:0009388" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009388", "resource": "MONDO", "description": "", "name": "L-lysine:NAD-oxido-reductase deficiency", "id": "MONDO:0009388" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009388", "resource": "MONDO", "description": "", "name": "Alpha-aminoadipic semialdehyde synthase deficiency", "id": "MONDO:0009388" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009388", "resource": "MONDO", "description": "", "name": "hyperlysinemia, type I", "id": "MONDO:0009388" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009389", "resource": "MONDO", "description": "", "name": "hyperlysinemia due to defect in lysine transport into mitochondria", "id": "MONDO:0009389" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009389", "resource": "MONDO", "description": "", "name": "hyperlysinemia due to defect in lysine TRANSPORT into mitochondria", "id": "MONDO:0009389" }, { "url": "https://www.omim.org/entry/238700", "resource": "MIM", "description": "Hyperlysinemia, 1", "name": "Hyperlysinemia, 1", "id": "MIM:238700" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9274", "resource": "Disease Ontology", "description": "An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.", "name": "hyperlysinemia", "id": "DOID:9274" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/9274#disease-associations", "id": "9274", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 102908.0, "chemical_mass": 102908.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2VCW9", "name": "Aass", "locus": { "end_pos": 50152452, "strand": "-", "start_pos": 50200328, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOG00000039494", "id": "ENSRNOG00000039494", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2VCW9#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "1.5.1.8" }, { "url": "https://www.uniprot.org/uniprot/A2VCW9#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "1.5.1.9" }, { "url": "https://www.uniprot.org/uniprot/A2VCW9#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Alpha-aminoadipic semialdehyde synthase, mitochondrial" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2VCW9", "type": "synonym", "resource": "RefSeq", "name": "LKR/SDH; alpha-aminoadipic semialdehyde synthase, mitochondrial" }, { "url": "https://www.uniprot.org/uniprot/A2VCW9#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "LKR/SDH" }, { "url": "https://www.uniprot.org/uniprot/A2VCW9#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "LKR" }, { "url": "https://www.uniprot.org/uniprot/A2VCW9#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "LOR" }, { "url": "https://www.uniprot.org/uniprot/A2VCW9#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Lysine ketoglutarate reductase" }, { "url": "https://www.uniprot.org/uniprot/A2VCW9#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "SDH" }, { "url": "https://www.uniprot.org/uniprot/A2VCW9#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Saccharopine dehydrogenase" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2VCW9", "type": "synonym", "resource": "RefSeq", "name": "alpha-aminoadipic semialdehyde synthase, mitochondrial precursor" } ] }