{ "uniprot_canonical_ac": "A0A0R4IIB7-1", "uniprot_ac": "A0A0R4IIB7", "uniprot_id": "A0A0R4IIB7_DANRE", "mass": { "chemical_mass": 56048.0, "monoisotopic_mass": 56048.0 }, "refseq": { "ac": "XP_009290813", "name": "succinate-semialdehyde dehydrogenase, mitochondrial isoform X1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_009290813" }, "gene_names": [ { "name": "aldh5a1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IIB7", "id": "A0A0R4IIB7" }, { "name": "aldh5a1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_009290813", "id": "XP_009290813" } ], "protein_names": [ { "name": "Succinate-semialdehyde dehydrogenase", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IIB7/entry#names_and_taxonomy", "id": "A0A0R4IIB7" }, { "name": "1.2.1.24", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IIB7/entry#names_and_taxonomy", "id": "A0A0R4IIB7" }, { "name": "succinate-semialdehyde dehydrogenase, mitochondrial isoform X1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_009290813", "id": "XP_009290813" } ], "function": [ { "annotation": "##Genome-Annotation-Data-START## Annotation Provider :: NCBI RefSeq Annotation Status :: Full annotation Annotation Name :: GCF_049306965.1-RS_2025_04 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 10.3 Annotation Method :: Best-placed RefSeq; Gnomon; cmsearch; tRNAscan-SE Features Annotated :: Gene; mRNA; CDS; ncRNA Annotation Date :: 04/11/2025 ##Genome-Annotation-Data-END## MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_133191) annotated using gene prediction method: Gnomon, supported by EST evidence. Also see: Documentation of NCBI's Annotation Process COMPLETENESS: full length.", "evidence": [ { "database": "RefSeq", "id": "XP_009290813", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_009290813" } ] }, { "annotation": "Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IIB7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IIB7#function" }, { "database": "UniProtKB", "id": "ARBA00003743", "url": "https://www.uniprot.org/uniprotkb/ARBA00003743#function" } ] } ], "disease": [ { "disease_id": "DOID:0060175", "recommended_name": { "id": "DOID:0060175", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060175", "name": "succinic semialdehyde dehydrogenase deficiency", "description": "A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid." }, "synonyms": [ { "id": "DOID:0060175", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060175", "name": "4-hydroxybutyric aciduria", "description": "" }, { "id": "DOID:0060175", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060175", "name": "SSADH", "description": "" }, { "id": "DOID:0060175", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060175", "name": "gamma-hydroxybutyric aciduria", "description": "" }, { "id": "MONDO:0010083", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010083", "name": "succinic semialdehyde dehydrogenase deficiency", "description": "Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation." }, { "id": "MONDO:0010083", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010083", "name": "4-hydroxybutyric aciduria", "description": "" }, { "id": "MONDO:0010083", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010083", "name": "SSADH", "description": "" }, { "id": "MONDO:0010083", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010083", "name": "SSADH deficiency", "description": "" }, { "id": "MONDO:0010083", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010083", "name": "gamma-hydroxybutyric aciduria", "description": "" }, { "id": "MONDO:0010083", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010083", "name": "succinic semialdehyde dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0010083", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010083", "name": "GABA metabolic defect", "description": "" }, { "id": "MONDO:0010083", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010083", "name": "SSADHD", "description": "" }, { "id": "MONDO:0010083", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010083", "name": "Ssadh deficiency", "description": "" }, { "id": "MONDO:0010083", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010083", "name": "gamma-hydroxybutyricaciduria", "description": "" }, { "id": "MIM:271980", "resource": "MIM", "url": "https://www.omim.org/entry/271980", "name": "Succinic semialdehyde dehydrogenase deficiency", "description": "Succinic semialdehyde dehydrogenase deficiency" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060175", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060175" } ] }, { "disease_id": "DOID:1826", "recommended_name": { "id": "DOID:1826", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions." }, "synonyms": [ { "id": "DOID:1826", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1826", "name": "epilepsy syndrome", "description": "" }, { "id": "DOID:1826", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1826", "name": "epileptic syndrome", "description": "" } ], "unlinked_id_list": [ "DOID:0050703", "DOID:0050701", "DOID:0050705", "DOID:3331", "DOID:0060169", "DOID:0050706", "DOID:0050702", "DOID:0060172" ], "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IIB7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IIB7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "gene": [ { "name": "aldh5a1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IIB7", "locus": {} } ], "crossref": [ { "id": "ZFIN:ZDB-GENE-070228-2", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070228-2", "database": "AGR", "categories": [ "Protein Classification" ] }, { "id": "ENSDARG00000076544", "url": "https://bgee.org/?page=gene&gene_id=ENSDARG00000076544", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd07103", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd07103", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "565235", "url": "https://www.ncbi.nlm.nih.gov/gene/565235", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR010102", "url": "https://www.ebi.ac.uk/interpro/entry/IPR010102", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015590", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015590", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016160", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016160", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016161", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016161", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016162", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016162", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016163", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016163", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR050740", "url": "https://www.ebi.ac.uk/interpro/entry/IPR050740", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dre:565235", "url": "https://www.genome.jp/dbget-bin/www_bget?dre:565235", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "IGELFCK", "url": "https://omabrowser.org/oma/group/IGELFCK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "A0A0R4IIB7", "url": "https://www.orthodb.org/?gene=A0A0R4IIB7", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "F1QE89", "url": "https://www.orthodb.org/?gene=F1QE89", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR43353", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43353", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR43353:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43353:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00171", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF00171", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "XP_009290813", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_009290813", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "13217", "url": "https://www.rhea-db.org/rhea/13217", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A0R4IIB7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IIB7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0R4IIB7-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IIB7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F1QE89", "url": "https://www.uniprot.org/uniprotkb/F1QE89", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F1QE89-1", "url": "https://www.uniprot.org/uniprotkb/F1QE89-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "ZDB-GENE-070228-2", "url": "https://zfin.org/ZDB-GENE-070228-2", "database": "ZFIN", "categories": [ "Protein", "Organism-specific" ] } ], "sequence": { "sequence": "MNRTPLTSPINTRVLTFPALQFAVLTGLPSMVQLQRPYSLDVSASLLRTEGFIDGRWVSAASSFPVFDPATGEEIAKVSDCGTKEAQDAVNAAHKAFNLWKNHTAKERSILLRKWFDLIIQHREDLAKLITAECGKPMKESLGEMTYSASFLEWFSEEARRVYGDIVAAPAKDRKILILKQPVGVASIITPWNFPSAMITRKVGAALAVGCTVVVKPAEDTPLSALALAELSVQAGIPAGVFNVVPCSREKTPAVGELLCTDPLVAKISFTGSTATGKVLLRHAAGTVKRVSMELGGHAPFIVFDSADVDKAVAGAMGSKFRNSGQTCVCSNRFLVQTGIHDAFVEKLAKTMDAELKLGHGSEPSTTQGPLINSRAAEKVEKQVADAVDHGAVVVRGGKRLQGSFMEPTLLSNVTSDMLCMREETFGPLIPVVKFNTEQEALAIANASPVGLAGYFYSRDMAQIWRVAEQMEVGMVGVNEGMISTTEAPFGGIKQSGLGREGSIYGVDEYLEIKYMCLGGLS", "length": 522, "header": "tr|A0A0R4IIB7-1|A0A0R4IIB7_DANRE Isoform 1 of Succinate-semialdehyde dehydrogenase OS=Danio rerio OX=7955 GN=aldh5a1 PE=1 SV=1 CANONICAL=A0A0R4IIB7-1" }, "isoforms": [ { "isoform_ac": "A0A0R4IIB7-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IIB7/entry#A0A0R4IIB7-1", "sequence": { "sequence": "MNRTPLTSPINTRVLTFPALQFAVLTGLPSMVQLQRPYSLDVSASLLRTEGFIDGRWVSAASSFPVFDPATGEEIAKVSDCGTKEAQDAVNAAHKAFNLWKNHTAKERSILLRKWFDLIIQHREDLAKLITAECGKPMKESLGEMTYSASFLEWFSEEARRVYGDIVAAPAKDRKILILKQPVGVASIITPWNFPSAMITRKVGAALAVGCTVVVKPAEDTPLSALALAELSVQAGIPAGVFNVVPCSREKTPAVGELLCTDPLVAKISFTGSTATGKVLLRHAAGTVKRVSMELGGHAPFIVFDSADVDKAVAGAMGSKFRNSGQTCVCSNRFLVQTGIHDAFVEKLAKTMDAELKLGHGSEPSTTQGPLINSRAAEKVEKQVADAVDHGAVVVRGGKRLQGSFMEPTLLSNVTSDMLCMREETFGPLIPVVKFNTEQEALAIANASPVGLAGYFYSRDMAQIWRVAEQMEVGMVGVNEGMISTTEAPFGGIKQSGLGREGSIYGVDEYLEIKYMCLGGLS", "length": 522, "header": "tr|A0A0R4IIB7-1|A0A0R4IIB7_DANRE Isoform 1 of Succinate-semialdehyde dehydrogenase OS=Danio rerio OX=7955 GN=aldh5a1 PE=1 SV=1 CANONICAL=A0A0R4IIB7-1" }, "locus": {} }, { "isoform_ac": "F1QE89-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IIB7/entry#F1QE89-1", "sequence": { "sequence": "MASLCLSRGRCVLRQVLTGLPSMVQLQRPYSLDVSASLLRTEGFIDGRWVSAASSFPVFDPATGEEIAKVSDCGTKEAQDAVNAAHKAFNLWKNHTAKERSILLRKWFDLIIQHREDLAKLITAECGKPMKESLGEMTYSASFLEWFSEEARRVYGDIVAAPAKDRKILILKQPVGVASIITPWNFPSAMITRKVGAALAVGCTVVVKPAEDTPLSALALAELSVQAGIPAGVFNVVPCSREKTPAVGELLCTDPLVAKISFTGSTATGKVLLRHAAGTVKRVSMELGGHAPFIVFDSADVDKAVAGAMGSKFRNSGQTCVCSNRFLVQTGIHDAFVEKLAKTMDAELKLGHGSEPSTTQGPLINSRAAEKVEKQVADAVDHGAVVVRGGKRLQGSFMEPTLLSNVTSDMLCMREETFGPLIPVVK", "length": 426, "header": "tr|F1QE89-1|F1QE89_DANRE Computationally mapped isoform of Succinate-semialdehyde dehydrogenase, mitochondrial OS=Danio rerio OX=7955 GN=aldh5a1 PE=1 SV=1 CANONICAL=A0A0R4IIB7-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Analysis of the goldfish Carassius auratus olfactory epithelium transcriptome reveals the presence of numerous non-olfactory GPCR and putative receptors for progestin pheromones.", "journal": "BMC Genomics", "date": "2008", "authors": "Kolmakov Nikolay N, Kube Michael, Reinhardt Richard, Canario Adelino V M", "evidence": [ { "database": "UniProtKB", "id": "F1QE89", "url": "https://www.uniprot.org/uniprotkb/F1QE89" } ], "reference": [ { "type": "PubMed", "id": "18803863", "url": "https://glygen.org/publication/PubMed/18803863" } ] }, { "title": "A DEAB-sensitive aldehyde dehydrogenase regulates hematopoietic stem and progenitor cells development during primitive hematopoiesis in zebrafish embryos.", "journal": "Leukemia", "date": "2010", "authors": "Ma A C H, Chung M I S, Liang R, Leung A Y H", "evidence": [ { "database": "UniProtKB", "id": "F1QE89", "url": "https://www.uniprot.org/uniprotkb/F1QE89" } ], "reference": [ { "type": "PubMed", "id": "20927131", "url": "https://glygen.org/publication/PubMed/20927131" } ] }, { "title": "ALDH2 mediates 5-nitrofuran activity in multiple species.", "journal": "Chem. Biol.", "date": "2012", "authors": "Zhou Linna, Ishizaki Hironori, Spitzer Michaela, Taylor Kerrie L, Temperley Nicholas D, Johnson Stephen L, Brear Paul, Gautier Philippe, Zeng Zhiqiang, Mitchell Amy, Narayan Vikram, McNeil Ewan M, Melton David W, Smith Terry K, Tyers Mike, Westwood Nicholas J, Patton E Elizabeth", "evidence": [ { "database": "UniProtKB", "id": "F1QE89", "url": "https://www.uniprot.org/uniprotkb/F1QE89" } ], "reference": [ { "type": "PubMed", "id": "22840776", "url": "https://glygen.org/publication/PubMed/22840776" } ] }, { "title": "The zebrafish reference genome sequence and its relationship to the human genome.", "journal": "Nature", "date": "2013", "authors": "Howe Kerstin, Clark Matthew D, Torroja Carlos F, Torrance James, Berthelot Camille, Muffato Matthieu, Collins John E, Humphray Sean, McLaren Karen, Matthews Lucy, McLaren Stuart, Sealy Ian, Caccamo Mario, Churcher Carol, Scott Carol, Barrett Jeffrey C, Koch Romke, Rauch Gerd-J\u00f6rg, White Simon, Chow William, Kilian Britt, Quintais Leonor T, Guerra-Assun\u00e7\u00e3o Jos\u00e9 A, Zhou Yi, Gu Yong, Yen Jennifer, Vogel Jan-Hinnerk, Eyre Tina, Redmond Seth, Banerjee Ruby, Chi Jianxiang, Fu Beiyuan, Langley Elizabeth, Maguire Sean F, Laird Gavin K, Lloyd David, Kenyon Emma, Donaldson Sarah, Sehra Harminder, Almeida-King Jeff, Loveland Jane, Trevanion Stephen, Jones Matt, Quail Mike, Willey Dave, Hunt Adrienne, Burton John, Sims Sarah, McLay Kirsten, Plumb Bob, Davis Joy, Clee Chris, Oliver Karen, Clark Richard, Riddle Clare, Elliot David, Eliott David, Threadgold Glen, Harden Glenn, Ware Darren, Begum Sharmin, Mortimore Beverley, Mortimer Beverly, Kerry Giselle, Heath Paul, Phillimore Benjamin, Tracey Alan, Corby Nicole, Dunn Matthew, Johnson Christopher, Wood Jonathan, Clark Susan, Pelan Sarah, Griffiths Guy, Smith Michelle, Glithero Rebecca, Howden Philip, Barker Nicholas, Lloyd Christine, Stevens Christopher, Harley Joanna, Holt Karen, Panagiotidis Georgios, Lovell Jamieson, Beasley Helen, Henderson Carl, Gordon Daria, Auger Katherine, Wright Deborah, Collins Joanna, Raisen Claire, Dyer Lauren, Leung Kenric, Robertson Lauren, Ambridge Kirsty, Leongamornlert Daniel, McGuire Sarah, Gilderthorp Ruth, Griffiths Coline, Manthravadi Deepa, Nichol Sarah, Barker Gary, Whitehead Siobhan, Kay Michael, Brown Jacqueline, Murnane Clare, Gray Emma, Humphries Matthew, Sycamore Neil, Barker Darren, Saunders David, Wallis Justene, Babbage Anne, Hammond Sian, Mashreghi-Mohammadi Maryam, Barr Lucy, Martin Sancha, Wray Paul, Ellington Andrew, Matthews Nicholas, Ellwood Matthew, Woodmansey Rebecca, Clark Graham, Cooper James D, Cooper James, Tromans Anthony, Grafham Darren, Skuce Carl, Pandian Richard, Andrews Robert, Harrison Elliot, Kimberley Andrew, Garnett Jane, Fosker Nigel, Hall Rebekah, Garner Patrick, Kelly Daniel, Bird Christine, Palmer Sophie, Gehring Ines, Berger Andrea, Dooley Christopher M, Ersan-\u00dcr\u00fcn Z\u00fcbeyde, Eser Cigdem, Geiger Horst, Geisler Maria, Karotki Lena, Kirn Anette, Konantz Judith, Konantz Martina, Oberl\u00e4nder Martina, Rudolph-Geiger Silke, Teucke Mathias, Lanz Christa, Raddatz G\u00fcnter, Osoegawa Kazutoyo, Zhu Baoli, Rapp Amanda, Widaa Sara, Langford Cordelia, Yang Fengtang, Schuster Stephan C, Carter Nigel P, Harrow Jennifer, Ning Zemin, Herrero Javier, Searle Steve M J, Enright Anton, Geisler Robert, Plasterk Ronald H A, Lee Charles, Westerfield Monte, de Jong Pieter J, Zon Leonard I, Postlethwait John H, N\u00fcsslein-Volhard Christiane, Hubbard Tim J P, Roest Crollius Hugues, Rogers Jane, Stemple Derek L", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IIB7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IIB7" } ], "reference": [ { "type": "PubMed", "id": "23594743", "url": "https://glygen.org/publication/PubMed/23594743" } ] }, { "title": "Evolution of complexity in the zebrafish synapse proteome.", "journal": "Nat. Commun.", "date": "2017", "authors": "Bayes A, Collins MO, Reig-Viader R, Gou G, Goulding D, Izquierdo A, Choudhary JS, Emes RD, Grant SG", "evidence": [ { "database": "UniProtKB", "id": "F1QE89", "url": "https://www.uniprot.org/uniprotkb/F1QE89" } ], "reference": [ { "type": "PubMed", "id": "28252024", "url": "https://glygen.org/publication/PubMed/28252024" } ] }, { "title": "The combination of loss of glyoxalase1 and obesity results in hyperglycemia.", "journal": "JCI Insight", "date": "2019", "authors": "Lodd Elisabeth, Wiggenhauser Lucas M, Morgenstern Jakob, Fleming Thomas H, Poschet Gernot, B\u00fcttner Michael, Tabler Christoph T, Wohlfart David P, Nawroth Peter P, Kroll Jens", "evidence": [ { "database": "UniProtKB", "id": "F1QE89", "url": "https://www.uniprot.org/uniprotkb/F1QE89" } ], "reference": [ { "type": "PubMed", "id": "31217350", "url": "https://glygen.org/publication/PubMed/31217350" } ] }, { "title": "Elevated 4-hydroxynonenal induces hyperglycaemia via Aldh3a1 loss in zebrafish and associates with diabetes progression in humans.", "journal": "Redox Biol.", "date": "2020", "authors": "Lou Bowen, Boger Mike, Bennewitz Katrin, Sticht Carsten, Kopf Stefan, Morgenstern Jakob, Fleming Thomas, Hell R\u00fcdiger, Yuan Zuyi, Nawroth Peter Paul, Kroll Jens", "evidence": [ { "database": "UniProtKB", "id": "F1QE89", "url": "https://www.uniprot.org/uniprotkb/F1QE89" } ], "reference": [ { "type": "PubMed", "id": "32980661", "url": "https://glygen.org/publication/PubMed/32980661" } ] }, { "title": "Aldh2 is a lineage-specific metabolic gatekeeper in melanocyte stem cells.", "journal": "Development", "date": "2022", "authors": "Brunsdon Hannah, Brombin Alessandro, Peterson Samuel, Postlethwait John H, Patton E Elizabeth", "evidence": [ { "database": "UniProtKB", "id": "F1QE89", "url": "https://www.uniprot.org/uniprotkb/F1QE89" } ], "reference": [ { "type": "PubMed", "id": "35485397", "url": "https://glygen.org/publication/PubMed/35485397" } ] }, { "title": "ALDH1A3-acetaldehyde metabolism potentiates transcriptional heterogeneity in melanoma.", "journal": "Cell Rep.", "date": "2024", "authors": "Lu Yuting, Travnickova Jana, Badonyi Mihaly, Rambow Florian, Coates Andrea, Khan Zaid, Marques Jair, Murphy Laura C, Garcia-Martinez Pablo, Marais Richard, Louphrasitthiphol Pakavarin, Chan Alex H Y, Schofield Christopher J, von Kriegsheim Alex, Marsh Joseph A, Pavet Valeria, Sansom Owen J, Illingworth Robert S, Patton E Elizabeth", "evidence": [ { "database": "UniProtKB", "id": "F1QE89", "url": "https://www.uniprot.org/uniprotkb/F1QE89" } ], "reference": [ { "type": "PubMed", "id": "38963759", "url": "https://glygen.org/publication/PubMed/38963759" } ] } ], "pathway": [ { "id": "dre:565235", "name": "", "url": "https://www.genome.jp/dbget-bin/www_bget?dre:565235", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0AAA9TXM1-1", "protein_name": "Succinate-semialdehyde dehydrogenase", "gene_name": "ALDH5A1", "tax_id": 9913, "organism": "Bos taurus", "sequence": { "sequence": "MATCLRLRSCAAPHLRRAPPSRICRPRADCPVAPIRGYARGPAGLSSALLRTDGFVGGLWVSAAATFPVHDPASGAELGLVADCGVPEARAAVRAAYEAFCSWRGVSAKERSSLLRKWYDLMIQNKDDLAKIITAESGKPLKEAQGEILYSANFLEWFSEEARRVYGDIISTPAKERRALVLKQPVGVAAVITPWNFPSAMITRKVGAALAAGCTVVVKPAEDTPFSALALAELANQAGIPPGVYNVIPCSQKKAKEVGEALCTDPLVSKISFTGSTATGKVLLHHAANSVKRVSMELGGHAPFIVFDSANVDQAVAGAMASKFRNSGQTCVCSNRFLVQSGIHDSFVKKFAEAIKTNLHVGNGFDERTTQGPLINAKAVEKVEKHVSDAISKGATVVTGGKRHHVGKNFFEPTLLSNVTRDMLCSQEETFGPVAPVIKFNTEEEAVAIANAANVGLAGYFYSQDPAQIWRVAERLEVGMVGVNEGLISSVECPFGGVKQSGLGREGSKYGIDEYLELKYVCFGGL", "length": 526 }, "evidence": [ { "id": "A0A0R4IIB7", "url": "https://omabrowser.org/oma/group/A0A0R4IIB7/", "database": "OMA" } ], "glygen_name": "Bovine", "common_name": "Bovine" }, { "uniprot_canonical_ac": "P38067-1", "protein_name": "Succinate-semialdehyde dehydrogenase [NADP(+)]", "gene_name": "UGA2", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MTLSKYSKPTLNDPNLFRESGYIDGKWVKGTDEVFEVVDPASGEIIARVPEQPVSVVEEAIDVAYETFKTYKNTTPRERAKWLRNMYNLMLENLDDLATIITLENGKALGEAKGEIKYAASYFEWYAEEAPRLYGATIQPLNPHNRVFTIRQPVGVCGIICPWNFPSAMITRKAAAALAVGCTVVIKPDSQTPLSALAMAYLAEKAGFPKGSFNVILSHANTPKLGKTLCESPKVKKVTFTGSTNVGKILMKQSSSTLKKLSFELGGNAPFIVFEDADLDQALEQAMACKFRGLGQTCVCANRLYVHSSIIDKFAKLLAERVKKFVIGHGLDPKTTHGCVINSSAIEKVERHKQDAIDKGAKVVLEGGRLTELGPNFYAPVILSHVPSTAIVSKEETFGPLCPIFSFDTMEEVVGYANDTEFGLAAYVFSKNVNTLYTVSEALETGMVSCNTGVFSDCSIPFGGVKESGFGREGSLYGIEDYTVLKTITIGNLPNSI", "length": 497 }, "evidence": [ { "id": "HGNC:408", "url": "https://alliancegenome.org/gene/HGNC:408#orthology", "database": "AGR" }, { "id": "MGI:2441982", "url": "https://alliancegenome.org/gene/MGI:2441982#orthology", "database": "AGR" } ], "glygen_name": "Yeast", "common_name": "Baker's yeast" }, { "uniprot_canonical_ac": "P51649-1", "protein_name": "Succinate-semialdehyde dehydrogenase, mitochondrial", "gene_name": "ALDH5A1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQLRCYAGRLAGLSAALLRTDSFVGGRWLPAAATFPVQDPASGAALGMVADCGVREARAAVRAAYEAFCRWREVSAKERSSLLRKWYNLMIQNKDDLARIITAESGKPLKEAHGEILYSAFFLEWFSEEARRVYGDIIHTPAKDRRALVLKQPIGVAAVITPWNFPSAMITRKVGAALAAGCTVVVKPAEDTPFSALALAELASQAGIPSGVYNVIPCSRKNAKEVGEAICTDPLVSKISFTGSTTTGKILLHHAANSVKRVSMELGGLAPFIVFDSANVDQAVAGAMASKFRNTGQTCVCSNQFLVQRGIHDAFVKAFAEAMKKNLRVGNGFEEGTTQGPLINEKAVEKVEKQVNDAVSKGATVVTGGKRHQLGKNFFEPTLLCNVTQDMLCTHEETFGPLAPVIKFDTEEEAIAIANAADVGLAGYFYSQDPAQIWRVAEQLEVGMVGVNEGLISSVECPFGGVKQSGLGREGSKYGIDEYLELKYVCYGGL", "length": 535 }, "evidence": [ { "id": "ZFIN:ZDB-GENE-070228-2", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070228-2#orthology", "database": "AGR" }, { "id": "HGNC:408", "url": "https://alliancegenome.org/gene/HGNC:408#orthology", "database": "AGR" }, { "id": "MGI:2441982", "url": "https://alliancegenome.org/gene/MGI:2441982#orthology", "database": "AGR" }, { "id": "A0A0R4IIB7", "url": "https://omabrowser.org/oma/group/A0A0R4IIB7/", "database": "OMA" } ], "glygen_name": "Human", "common_name": "Human" }, { "uniprot_canonical_ac": "P51650-1", "protein_name": "Succinate-semialdehyde dehydrogenase, mitochondrial", "gene_name": "Aldh5a1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MATCFLLRNFCAARPALRPPGRLLREPAGAQRRSYVGGPADLHADLLRGDSFVGGRWLPTPATFPVYDPASGAKLGTVADCGVPEARAAVRAAYDAFSSWKEISVKERSSLLRKWYDLMIQNKDELAKIITAESGKPLKEAQGEILYSAFFLEWFSEEARRVYGDIIYTSAKDKRGLVLKQPVGVASIITPWNFPSAMITRKVGAALAAGCTVVVKPAEDTPYSALALAQLANQAGIPPGVYNVIPCSRTKAKEVGEVLCTDPLVSKISFTGSTATGKILLHHAANSVKRVSMELGGLAPFIVFDSANVDQAVAGAMASKFRNAGQTCVCSNRFLVQRGIHDSFVTKFAEAMKKSLRVGNGFEEGTTQGPLINEKAVEKVEKHVNDAVAKGATVVTGGKRHQSGGNFFEPTLLSNVTRDMLCITEETFGPVAPVIKFDKEEEAVAIANAADVGLAGYFYSQDPAQIWRVAEQLEVGMVGVNEGLISSVECPFGGVKQSGLGREGSKYGIDEYLEVKYVCYGGL", "length": 523 }, "evidence": [ { "id": "HGNC:408", "url": "https://alliancegenome.org/gene/HGNC:408#orthology", "database": "AGR" }, { "id": "MGI:2441982", "url": "https://alliancegenome.org/gene/MGI:2441982#orthology", "database": "AGR" }, { "id": "A0A0R4IIB7", "url": "https://omabrowser.org/oma/group/A0A0R4IIB7/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8BWF0-1", "protein_name": "Succinate-semialdehyde dehydrogenase, mitochondrial", "gene_name": "Aldh5a1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MATCFLLRSFWAARPALPPPGRFRPEPAGTPRRSYASGPGGLHADLLRGDSFVGGRWLPAPATFPVYDPASGAKLGTVADCGVPEARAAVRAAYDAFNSWKGVSVKERSLLLRKWYDLMIQNKDDLAKIITAESGKPLKEAQGEILYSALFLEWFSEEARRIYGDIIYTSAKDKRGLVLKQPVGVAAIITPWNFPSAMITRKVGAALAAGCTVVVKPAEDTPYSALALAQLANQAGIPAGVYNVIPCSRNKAKEVGEVLCTDPLVSKISFTGSTATGKILLHHAANSVKRVSMELGGLAPFIVFDSANVDQAVAGAMASKFRNAGQTCVCSNRFLVQRGIHDSFVTKFAEAMKKSLRVGNGFEEGTTQGPLINEKAVEKVEKQVNDAVAKGATVVTGGKRHQSGGNFFEPTLLSNVTRDMLCITEETFGPLAPVIKFDKEEEAVAIANAAEVGLAGYFYSQDPAQIWRVAEQLEVGMVGVNEGLISSVECPFGGVKQSGLGREGSKYGIDEYLEVKYVCYGGL", "length": 523 }, "evidence": [ { "id": "ZFIN:ZDB-GENE-070228-2", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070228-2#orthology", "database": "AGR" }, { "id": "HGNC:408", "url": "https://alliancegenome.org/gene/HGNC:408#orthology", "database": "AGR" }, { "id": "MGI:2441982", "url": "https://alliancegenome.org/gene/MGI:2441982#orthology", "database": "AGR" }, { "id": "A0A0R4IIB7", "url": "https://omabrowser.org/oma/group/A0A0R4IIB7/", "database": "OMA" } ], "glygen_name": "Mouse", "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9SAK4-1", "protein_name": "Succinate-semialdehyde dehydrogenase, mitochondrial", "gene_name": "ALDH5F1", "tax_id": 3702, "organism": "Arabidopsis thaliana", "sequence": { "sequence": "MVIGAAARVAIGGCRKLISSHTSLLLVSSQCRQMSMDAQSVSEKLRSSGLLRTQGLIGGKWLDSYDNKTIKVNNPATGEIIADVACMGTKETNDAIASSYEAFTSWSRLTAGERSKVLRRWYDLLIAHKEELGQLITLEQGKPLKEAIGEVAYGASFIEYYAEEAKRVYGDIIPPNLSDRRLLVLKQPVGVVGAITPWNFPLAMITRKVGPALASGCTVVVKPSELTPLTALAAAELALQAGVPPGALNVVMGNAPEIGDALLTSPQVRKITFTGSTAVGKKLMAAAAPTVKKVSLELGGNAPSIVFDDADLDVAVKGTLAAKFRNSGQTCVCANRVLVQDGIYDKFAEAFSEAVQKLEVGDGFRDGTTQGPLINDAAVQKVETFVQDAVSKGAKIIIGGKRHSLGMTFYEPTVIRDVSDNMIMSKEEIFGPVAPLIRFKTEEDAIRIANDTIAGLAAYIFTNSVQRSWRVFEALEYGLVGVNEGLISTEVAPFGGVKQSGLGREGSKYGMDEYLEIKYVCLGDMNRH", "length": 528 }, "evidence": [ { "id": "A0A0R4IIB7", "url": "https://omabrowser.org/oma/group/A0A0R4IIB7/", "database": "OMA" } ], "glygen_name": "Arabidopsis", "common_name": "Mouse-ear cress" }, { "uniprot_canonical_ac": "Q9VBP6-1", "protein_name": "Succinate-semialdehyde dehydrogenase", "gene_name": "Ssadh", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MWRQLSGVARTGSSLSLCRMRGFSALVQDKALVDGAWVDSSNAKATFEVRNPANGAVIGKVPNMTVADAQKAIDAAKQAYESKEWRSLTAKDRSNLLKKWHKLIEQHSQEIAEIMTAESGKPINESKGEVAYGNAFVEWFAEEARRIYGEIVPSASPNREIIVMKQPIGVAALITPWNFPMAMITRKAGAALAAGCTVVVKPSEDTPLTALAVAKLAVDAGIPKGVINVVTTNKAAPIGDLFCKSPDVRGISFTGSTEVGKLLFRNSADGIKRICLELGGNAPFIVFDSADIEKAVDGAMASKFRNCGQTCVSANRFFVQDSVYDKFVGQLKKRVEALKIGDGQGCDVQIGPLINEMQFNKVSGFVEDARSKKANIILGGQPLPDKGSLFYAPTIVTDVPPSAQLYSEEVFGPVVSIIRFRDEEEAVKKANDTRRGLAGYFYSENLQQVFRVAKRLEVGMVGVNEGIISAAEAPFGGVKESGVGREGSKHGIDDYVDIKYICMGNLKYD", "length": 509 }, "evidence": [ { "id": "HGNC:408", "url": "https://alliancegenome.org/gene/HGNC:408#orthology", "database": "AGR" }, { "id": "MGI:2441982", "url": "https://alliancegenome.org/gene/MGI:2441982#orthology", "database": "AGR" }, { "id": "A0A0R4IIB7", "url": "https://omabrowser.org/oma/group/A0A0R4IIB7/", "database": "OMA" } ], "glygen_name": "Fruit fly", "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "succinate-semialdehyde dehydrogenase (NAD+) activity", "id": "GO:0004777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004777", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IIB7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IIB7" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IIB7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IIB7" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "gamma-aminobutyric acid catabolic process", "id": "GO:0009450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009450", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IIB7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IIB7" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 102, "end_pos": 104, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2, "end_pos": 4, "annotation": "n_glycosylation_sequon" }, { "start_pos": 413, "end_pos": 415, "annotation": "n_glycosylation_sequon" }, { "start_pos": 446, "end_pos": 448, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "13217", "name": "", "equation": "succinate semialdehyde + NAD(+) + H2O = succinate + NADH + 2 H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "A0A0R4IIB7-1" ], "evidence": [ { "id": "13217", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/13217" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A0A0R4IIB7", "gene_name": "aldh5a1", "activity": [ { "ec_number": "1.2.1.24", "activity": "succinate semialdehyde + NAD(+) + H2O = succinate + NADH + 2 H(+).", "evidence": [ { "id": "A0A0R4IIB7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IIB7" } ] }, { "ec_number": "1.2.1.24", "activity": "", "evidence": [ { "id": "A0A0R4IIB7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IIB7" } ] } ] } ], "biomarkers": [], "structures": [], "synthesized_glycans": [], "enzyme_annotation": [ { "ec_number": "1.2.1.24", "ec_name": "succinate semialdehyde + NAD(+) + H2O = succinate + NADH + 2 H(+).", "evidence": [ { "id": "1.2.1.24", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.24" }, { "id": "1.2.1.24", "database": "BRENDA Enzymes", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=1.2.1.24" } ] } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.agr", "label": "AGR Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 102, "end_pos": 104 }, { "start_pos": 2, "end_pos": 4 }, { "start_pos": 413, "end_pos": 415 }, { "start_pos": 446, "end_pos": 448 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "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": 9 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }