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UniProtKB - P51649 (SSDH_HUMAN)

Entry version 198 (07 Apr 2021)
Sequence version 2 (30 May 2000)
Previous versions | rss
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Protein

Succinate-semialdehyde dehydrogenase, mitochondrial

Gene

ALDH5A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Redox-regulated. Inhibited under oxydizing conditions. Inhibited by hydrogen peroxide H2O2.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: 4-aminobutanoate degradation

This protein is involved in the pathway 4-aminobutanoate degradation, which is part of Amino-acid degradation.
View all proteins of this organism that are known to be involved in the pathway 4-aminobutanoate degradation and in Amino-acid degradation.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei205Transition state stabilizerBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei213SubstrateCombined sources1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei306Proton acceptorPROSITE-ProRule annotation1
Binding sitei306NADBy similarity1
Binding sitei334SubstrateCombined sources1 Publication1
Active sitei340NucleophilePROSITE-ProRule annotation1
Binding sitei498SubstrateCombined sources1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi202 – 204NADBy similarity3
Nucleotide bindingi228 – 231NADCombined sources1 Publication4
Nucleotide bindingi284 – 289NADCombined sources1 Publication6
Nucleotide bindingi438 – 440NADBy similarity3

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionOxidoreductase
LigandNAD

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS03550-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		1.2.1.24, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P51649

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-916853, Degradation of GABA

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		P51649

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00733

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Succinate-semialdehyde dehydrogenase, mitochondrial (EC:1.2.1.24)
Alternative name(s):
Aldehyde dehydrogenase family 5 member A1
NAD(+)-dependent succinic semialdehyde dehydrogenase
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ALDH5A1
Synonyms:SSADH
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:408, ALDH5A1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610045, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P51649

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000112294.12

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Succinic semialdehyde dehydrogenase deficiency (SSADHD)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA rare inborn error of 4-aminobutyric acid (GABA) metabolism, which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is clinically characterized by developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02619993C → F in SSADHD; 3% of activity. 1 PublicationCorresponds to variant dbSNP:rs765561257EnsemblClinVar.1
Natural variantiVAR_026200176G → R in SSADHD; <1% of activity. 1 PublicationCorresponds to variant dbSNP:rs72552281EnsemblClinVar.1
Natural variantiVAR_026201223C → Y in SSADHD; 5% of activity. 1 PublicationCorresponds to variant dbSNP:rs72552282EnsemblClinVar.1
Natural variantiVAR_026202233T → M in SSADHD; 4% of activity. 1 PublicationCorresponds to variant dbSNP:rs1326526453Ensembl.1
Natural variantiVAR_026203255N → S in SSADHD; 17% of activity. 1 PublicationCorresponds to variant dbSNP:rs145087265Ensembl.1
Natural variantiVAR_026204268G → E in SSADHD; <1% of activity. 2 PublicationsCorresponds to variant dbSNP:rs375628463EnsemblClinVar.1
Natural variantiVAR_026205335N → K in SSADHD; 1% of activity. 1 PublicationCorresponds to variant dbSNP:rs72552283Ensembl.1
Natural variantiVAR_026206382P → L in SSADHD; 2% of activity. 1 Publication1
Natural variantiVAR_026207382P → Q in SSADHD. 1 Publication1
Natural variantiVAR_026208409G → D in SSADHD; <1% of activity. 2 PublicationsCorresponds to variant dbSNP:rs118203984EnsemblClinVar.1
Natural variantiVAR_026209487V → E in SSADHD. 1 Publication1
Natural variantiVAR_026210533G → R in SSADHD; <1% of activity. 1 PublicationCorresponds to variant dbSNP:rs72552284EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi213R → A: Reduces catalytic activity to less than 15% of wild-type. 1 Publication1
Mutagenesisi334R → A: Reduces catalytic activity to less than 15% of wild-type. 1 Publication1
Mutagenesisi342C → A: Loss of regulation by redox state. 1 Publication1
Mutagenesisi498S → A: Reduces catalytic activity to less than 15% of wild-type. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		7915

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		ALDH5A1

MalaCards human disease database

More...MalaCardsi		ALDH5A1
MIMi271980, phenotype

Open Targets

More...OpenTargetsi		ENSG00000112294

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		22, Succinic semialdehyde dehydrogenase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24702

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P51649, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1911

Drug and drug target database

More...DrugBanki		DB00534, Chlormerodrin
DB00157, NADH
DB09072, Sodium oxybate
DB00139, Succinic acid
DB00313, Valproic acid

DrugCentral

More...DrugCentrali		P51649

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		2466

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ALDH5A1

Domain mapping of disease mutations (DMDM)

More...DMDMi		7531278

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 47MitochondrionSequence analysisAdd BLAST47
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000718448 – 535Succinate-semialdehyde dehydrogenase, mitochondrialAdd BLAST488

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei126N6-acetyllysine; alternateCombined sources1
Modified residuei126N6-succinyllysine; alternateBy similarity1
Modified residuei135N6-succinyllysineBy similarity1
Modified residuei184N6-succinyllysineBy similarity1
Modified residuei265N6-acetyllysine; alternateBy similarity1
Modified residuei265N6-succinyllysine; alternateBy similarity1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi340 ↔ 342In inhibited form1 Publication
Modified residuei365N6-acetyllysineBy similarity1
Modified residuei402N6-succinyllysineBy similarity1
Modified residuei411N6-acetyllysineBy similarity1
Modified residuei499PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Disulfide bond, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P51649

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P51649

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P51649

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P51649

PeptideAtlas

More...PeptideAtlasi		P51649

PRoteomics IDEntifications database

More...PRIDEi		P51649

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		33829
56358 [P51649-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P51649

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P51649

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P51649

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000112294, Expressed in vastus lateralis and 231 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P51649, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P51649, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000112294, Tissue enhanced (liver)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotetramer.

2 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		113645, 32 interactors

Protein interaction database and analysis system

More...IntActi		P51649, 14 interactors

Molecular INTeraction database

More...MINTi		P51649

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000314649

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P51649

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P51649, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1535
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P51649

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P51649

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the aldehyde dehydrogenase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2451, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00930000151038

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_005391_5_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P51649

Identification of Orthologs from Complete Genome Data

More...OMAi		WHKLIEQ

Database for complete collections of gene phylogenies

More...PhylomeDBi		P51649

TreeFam database of animal gene trees

More...TreeFami		TF352906

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.309.10, 1 hit
3.40.605.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR016161, Ald_DH/histidinol_DH
IPR016163, Ald_DH_C
IPR016160, Ald_DH_CS_CYS
IPR029510, Ald_DH_CS_GLU
IPR016162, Ald_DH_N
IPR015590, Aldehyde_DH_dom
IPR010102, Succ_semiAld_DH

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00171, Aldedh, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53720, SSF53720, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR01780, SSADH, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00070, ALDEHYDE_DEHYDR_CYS, 1 hit
PS00687, ALDEHYDE_DEHYDR_GLU, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P51649-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MATCIWLRSC GARRLGSTFP GCRLRPRAGG LVPASGPAPG PAQLRCYAGR 
        60         70         80         90        100
LAGLSAALLR TDSFVGGRWL PAAATFPVQD PASGAALGMV ADCGVREARA 
       110        120        130        140        150
AVRAAYEAFC RWREVSAKER SSLLRKWYNL MIQNKDDLAR IITAESGKPL 
       160        170        180        190        200
KEAHGEILYS AFFLEWFSEE ARRVYGDIIH TPAKDRRALV LKQPIGVAAV 
       210        220        230        240        250
ITPWNFPSAM ITRKVGAALA AGCTVVVKPA EDTPFSALAL AELASQAGIP 
       260        270        280        290        300
SGVYNVIPCS RKNAKEVGEA ICTDPLVSKI SFTGSTTTGK ILLHHAANSV 
       310        320        330        340        350
KRVSMELGGL APFIVFDSAN VDQAVAGAMA SKFRNTGQTC VCSNQFLVQR 
       360        370        380        390        400
GIHDAFVKAF AEAMKKNLRV GNGFEEGTTQ GPLINEKAVE KVEKQVNDAV 
       410        420        430        440        450
SKGATVVTGG KRHQLGKNFF EPTLLCNVTQ DMLCTHEETF GPLAPVIKFD 
       460        470        480        490        500
TEEEAIAIAN AADVGLAGYF YSQDPAQIWR VAEQLEVGMV GVNEGLISSV 
       510        520        530 
ECPFGGVKQS GLGREGSKYG IDEYLELKYV CYGGL
Length:535
Mass (Da):57,215
Last modified:May 30, 2000 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC63A9431D3FA16C7
GO
Isoform 2 (identifier: P51649-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     242-242: E → EVNQGFLLDLDPLL

Show »
Length:548
Mass (Da):58,653
Checksum:i98C7673CBBF74FC8
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J8Q5C9J8Q5_HUMAN
Succinate-semialdehyde dehydrogenas...
ALDH5A1
507Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A5F9ZI23A0A5F9ZI23_HUMAN
Succinate-semialdehyde dehydrogenas...
ALDH5A1
408Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A5F9ZH05A0A5F9ZH05_HUMAN
Succinate-semialdehyde dehydrogenas...
ALDH5A1
99Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A5F9ZH98A0A5F9ZH98_HUMAN
Succinate-semialdehyde dehydrogenas...
ALDH5A1
229Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02622736G → R1 PublicationCorresponds to variant dbSNP:rs4646832EnsemblClinVar.1
Natural variantiVAR_02619993C → F in SSADHD; 3% of activity. 1 PublicationCorresponds to variant dbSNP:rs765561257EnsemblClinVar.1
Natural variantiVAR_026200176G → R in SSADHD; <1% of activity. 1 PublicationCorresponds to variant dbSNP:rs72552281EnsemblClinVar.1
Natural variantiVAR_016758180H → Y 83% of activity. 2 PublicationsCorresponds to variant dbSNP:rs2760118EnsemblClinVar.1
Natural variantiVAR_016759182P → L 48% of activity. 1 PublicationCorresponds to variant dbSNP:rs3765310EnsemblClinVar.1
Natural variantiVAR_026201223C → Y in SSADHD; 5% of activity. 1 PublicationCorresponds to variant dbSNP:rs72552282EnsemblClinVar.1
Natural variantiVAR_026202233T → M in SSADHD; 4% of activity. 1 PublicationCorresponds to variant dbSNP:rs1326526453Ensembl.1
Natural variantiVAR_026228237A → S 65% of activity. 1 PublicationCorresponds to variant dbSNP:rs62621664EnsemblClinVar.1
Natural variantiVAR_026203255N → S in SSADHD; 17% of activity. 1 PublicationCorresponds to variant dbSNP:rs145087265Ensembl.1
Natural variantiVAR_026204268G → E in SSADHD; <1% of activity. 2 PublicationsCorresponds to variant dbSNP:rs375628463EnsemblClinVar.1
Natural variantiVAR_026205335N → K in SSADHD; 1% of activity. 1 PublicationCorresponds to variant dbSNP:rs72552283Ensembl.1
Natural variantiVAR_069047372N → S1 Publication1
Natural variantiVAR_026206382P → L in SSADHD; 2% of activity. 1 Publication1
Natural variantiVAR_026207382P → Q in SSADHD. 1 Publication1
Natural variantiVAR_026229406V → I1 PublicationCorresponds to variant dbSNP:rs143741652Ensembl.1
Natural variantiVAR_026208409G → D in SSADHD; <1% of activity. 2 PublicationsCorresponds to variant dbSNP:rs118203984EnsemblClinVar.1
Natural variantiVAR_026209487V → E in SSADHD. 1 Publication1
Natural variantiVAR_026210533G → R in SSADHD; <1% of activity. 1 PublicationCorresponds to variant dbSNP:rs72552284EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_045231242E → EVNQGFLLDLDPLL in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
Y11192 mRNA Translation: CAA72076.1
AJ427354 mRNA Translation: CAD20883.2
AJ427355 mRNA Translation: CAD20884.1
AK315380 mRNA Translation: BAG37773.1
AL031230 Genomic DNA No translation available.
CH471087 Genomic DNA Translation: EAW55452.1
CH471087 Genomic DNA Translation: EAW55453.1
BC034321 mRNA Translation: AAH34321.1
L34820 mRNA Translation: AAA67057.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4555.1 [P51649-1]
CCDS4556.1 [P51649-2]

Protein sequence database of the Protein Information Resource

More...PIRi		A55773

NCBI Reference Sequences

More...RefSeqi		NP_001071.1, NM_001080.3 [P51649-1]
NP_733936.1, NM_170740.1 [P51649-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000348925; ENSP00000314649; ENSG00000112294 [P51649-2]
ENST00000357578; ENSP00000350191; ENSG00000112294 [P51649-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		7915

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:7915

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y11192 mRNA Translation: CAA72076.1
AJ427354 mRNA Translation: CAD20883.2
AJ427355 mRNA Translation: CAD20884.1
AK315380 mRNA Translation: BAG37773.1
AL031230 Genomic DNA No translation available.
CH471087 Genomic DNA Translation: EAW55452.1
CH471087 Genomic DNA Translation: EAW55453.1
BC034321 mRNA Translation: AAH34321.1
L34820 mRNA Translation: AAA67057.1
CCDSiCCDS4555.1 [P51649-1]
CCDS4556.1 [P51649-2]
PIRiA55773
RefSeqiNP_001071.1, NM_001080.3 [P51649-1]
NP_733936.1, NM_170740.1 [P51649-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2W8NX-ray2.00A49-535[»]
2W8OX-ray3.40A49-535[»]
2W8PX-ray2.30A49-535[»]
2W8QX-ray2.40A49-535[»]
2W8RX-ray2.40A49-535[»]
SMRiP51649
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi113645, 32 interactors
IntActiP51649, 14 interactors
MINTiP51649
STRINGi9606.ENSP00000314649

Chemistry databases

BindingDBiP51649
ChEMBLiCHEMBL1911
DrugBankiDB00534, Chlormerodrin
DB00157, NADH
DB09072, Sodium oxybate
DB00139, Succinic acid
DB00313, Valproic acid
DrugCentraliP51649
GuidetoPHARMACOLOGYi2466

PTM databases

iPTMnetiP51649
PhosphoSitePlusiP51649
SwissPalmiP51649

Genetic variation databases

BioMutaiALDH5A1
DMDMi7531278

Proteomic databases

EPDiP51649
jPOSTiP51649
MassIVEiP51649
PaxDbiP51649
PeptideAtlasiP51649
PRIDEiP51649
ProteomicsDBi33829
56358 [P51649-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		25307, 439 antibodies

The DNASU plasmid repository

More...DNASUi		7915

Genome annotation databases

EnsembliENST00000348925; ENSP00000314649; ENSG00000112294 [P51649-2]
ENST00000357578; ENSP00000350191; ENSG00000112294 [P51649-1]
GeneIDi7915
KEGGihsa:7915

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		7915
DisGeNETi7915

GeneCards: human genes, protein and diseases

More...GeneCardsi		ALDH5A1
GeneReviewsiALDH5A1
HGNCiHGNC:408, ALDH5A1
HPAiENSG00000112294, Tissue enhanced (liver)
MalaCardsiALDH5A1
MIMi271980, phenotype
610045, gene
neXtProtiNX_P51649
OpenTargetsiENSG00000112294
Orphaneti22, Succinic semialdehyde dehydrogenase deficiency
PharmGKBiPA24702
VEuPathDBiHostDB:ENSG00000112294.12

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2451, Eukaryota
GeneTreeiENSGT00930000151038
HOGENOMiCLU_005391_5_1_1
InParanoidiP51649
OMAiWHKLIEQ
PhylomeDBiP51649
TreeFamiTF352906

Enzyme and pathway databases

UniPathwayiUPA00733
BioCyciMetaCyc:HS03550-MONOMER
BRENDAi1.2.1.24, 2681
PathwayCommonsiP51649
ReactomeiR-HSA-916853, Degradation of GABA
SABIO-RKiP51649

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		7915, 3 hits in 994 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ALDH5A1, human
EvolutionaryTraceiP51649

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Aldehyde_dehydrogenase_5_family,_member_A1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		7915
PharosiP51649, Tclin

Protein Ontology

More...PROi		PR:P51649
RNActiP51649, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000112294, Expressed in vastus lateralis and 231 other tissues
ExpressionAtlasiP51649, baseline and differential
GenevisibleiP51649, HS

Family and domain databases

Gene3Di3.40.309.10, 1 hit
3.40.605.10, 1 hit
InterProiView protein in InterPro
IPR016161, Ald_DH/histidinol_DH
IPR016163, Ald_DH_C
IPR016160, Ald_DH_CS_CYS
IPR029510, Ald_DH_CS_GLU
IPR016162, Ald_DH_N
IPR015590, Aldehyde_DH_dom
IPR010102, Succ_semiAld_DH
PfamiView protein in Pfam
PF00171, Aldedh, 1 hit
SUPFAMiSSF53720, SSF53720, 1 hit
TIGRFAMsiTIGR01780, SSADH, 1 hit
PROSITEiView protein in PROSITE
PS00070, ALDEHYDE_DEHYDR_CYS, 1 hit
PS00687, ALDEHYDE_DEHYDR_GLU, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSSDH_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P51649
Secondary accession number(s): B2RD26
, G5E949, Q546H9, Q8N3W6
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 30, 2000
Last modified: April 7, 2021
This is version 198 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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