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UniProtKB - Q9UDR5 (AASS_HUMAN)

Entry version 167 (10 Feb 2021)
Sequence version 1 (01 May 2000)
Previous versions | rss
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Protein

Alpha-aminoadipic semialdehyde synthase, mitochondrial

Gene

AASS

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

Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The N-terminal and the C-terminal contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively.

<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 the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: L-lysine degradation via saccharopine pathway

This protein is involved in step 1 and 2 of the subpathway that synthesizes glutaryl-CoA from L-lysine.
Proteins known to be involved in the 6 steps of the subpathway in this organism are:
  1. Lysine ketoglutarate reductase (AASS), Alpha-aminoadipic semialdehyde synthase, mitochondrial (AASS), Lysine ketoglutarate reductase (AASS)
  2. Lysine ketoglutarate reductase (AASS), Alpha-aminoadipic semialdehyde synthase, mitochondrial (AASS), Lysine ketoglutarate reductase (AASS)
  3. no protein annotated in this organism
  4. Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial (AADAT)
  5. no protein annotated in this organism
  6. Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial (DLST), Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial (DLST), Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial (DLST), Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial (E2k)
This subpathway is part of the pathway L-lysine degradation via saccharopine pathway, which is itself part of Amino-acid degradation.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes glutaryl-CoA from L-lysine, the pathway L-lysine degradation via saccharopine pathway and in Amino-acid degradation.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 sitei604SaccharopineBy similarity1
Binding sitei653NADP; via amide nitrogenBy similarity1
Binding sitei703SaccharopineBy similarity1

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 bindingi488 – 491NADPBy similarity4
Nucleotide bindingi603 – 605NADPBy 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 functionMultifunctional enzyme, Oxidoreductase
LigandNAD, NADP

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS00244-MONOMER

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9UDR5

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-71064, Lysine catabolism

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		Q9UDR5

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

More...UniPathwayi		UPA00868;UER00835
UPA00868;UER00836

<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:
Alpha-aminoadipic semialdehyde synthase, mitochondrial
Alternative name(s):
LKR/SDH
Including the following 2 domains:
Lysine ketoglutarate reductase (EC:1.5.1.8)
Short name:
LKR
Short name:
LOR
Saccharopine dehydrogenase (EC:1.5.1.9)
Short name:
SDH
<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:AASS
<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 7

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:17366, AASS

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605113, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UDR5

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000008311.14

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

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

Hyperlysinemia, 1 (HYPLYS1)1 Publication
The disease is caused by variants affecting the gene represented in this entry. In hyperlysinemia 1, both enzymatic functions of AASS are defective and patients have increased serum lysine and possibly increased saccharopine. Some individuals, however, retain significant amounts of lysine-ketoglutarate reductase and present with saccharopinuria, a metabolic condition with few, if any, clinical manifestations.1 Publication
Disease descriptionAn autosomal recessive metabolic condition with variable clinical features. Some patients present with non-specific seizures, hypotonia, or mildly delayed psychomotor development, and increased serum lysine and pipecolic acid on laboratory analysis. However, about half of the probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant.
Related information in OMIM
2,4-dienoyl-CoA reductase deficiency (DECRD)1 Publication
The protein represented in this entry is involved in disease pathogenesis. A selective decrease in mitochondrial NADP(H) levels due to NADK2 mutations causes a deficiency of NADPH-dependent mitochondrial enzymes, such as DECR1 and AASS.1 Publication
Disease descriptionA rare, autosomal recessive, inborn error of polyunsaturated fatty acids and lysine metabolism, resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic abnormalities beginning in early infancy. Laboratory studies show increased C10:2 carnitine levels and hyperlysinemia.
Related information in OMIM

Organism-specific databases

DisGeNET

More...DisGeNETi		10157

MalaCards human disease database

More...MalaCardsi		AASS
MIMi238700, phenotype
616034, phenotype

Open Targets

More...OpenTargetsi		ENSG00000008311

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

More...Orphaneti		2203, Hyperlysinemia
3124, Saccharopinuria

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24369

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9UDR5, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00142, Glutamic acid
DB04207, L-Saccharopine
DB00157, NADH
DB02338, NADPH

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		AASS

Domain mapping of disease mutations (DMDM)

More...DMDMi		46396032

<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 – 32MitochondrionBy similarityAdd BLAST32
<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_000000105233 – 926Alpha-aminoadipic semialdehyde synthase, mitochondrialAdd BLAST894

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 residuei48N6-acetyllysineBy similarity1
Modified residuei56N6-acetyllysineBy similarity1
Modified residuei93N6-acetyllysine; alternateBy similarity1
Modified residuei93N6-succinyllysine; alternateBy similarity1
Modified residuei128N6-acetyllysineBy similarity1
Modified residuei138N6-acetyllysine; alternateBy similarity1
Modified residuei138N6-succinyllysine; alternateBy similarity1
Modified residuei274N6-succinyllysineBy similarity1
Modified residuei286N6-acetyllysine; alternateBy similarity1
Modified residuei286N6-succinyllysine; alternateBy similarity1
Modified residuei333N6-succinyllysineBy similarity1
Modified residuei458N6-acetyllysine; alternateBy similarity1
Modified residuei458N6-succinyllysine; alternateBy similarity1
Modified residuei523N6-acetyllysine; alternateBy similarity1
Modified residuei523N6-succinyllysine; alternateBy similarity1
Modified residuei535N6-acetyllysine; alternateBy similarity1
Modified residuei535N6-succinyllysine; alternateBy similarity1
Modified residuei584N6-acetyllysine; alternateBy similarity1
Modified residuei584N6-succinyllysine; alternateBy similarity1
Modified residuei707N6-acetyllysineBy similarity1
Modified residuei732N6-succinyllysineBy similarity1
Modified residuei739N6-acetyllysineBy similarity1
Modified residuei761N6-acetyllysine; alternateBy similarity1
Modified residuei761N6-succinyllysine; alternateBy similarity1
Modified residuei780N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9UDR5

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9UDR5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9UDR5

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9UDR5

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

More...PaxDbi		Q9UDR5

PeptideAtlas

More...PeptideAtlasi		Q9UDR5

PRoteomics IDEntifications database

More...PRIDEi		Q9UDR5

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		84114

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		Q9UDR5

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UDR5

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q9UDR5

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

More...PhosphoSitePlusi		Q9UDR5

<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

Expressed in all 16 tissues examined with highest expression in the liver.

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Induced by starvation.By similarity

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000008311, Expressed in right ovary and 212 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UDR5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UDR5, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000008311, Low tissue specificity

<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

Homodimer.

By similarity

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115459, 36 interactors

Protein interaction database and analysis system

More...IntActi		Q9UDR5, 9 interactors

Molecular INTeraction database

More...MINTi		Q9UDR5

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000377040

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9UDR5, 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

1926
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		Q9UDR5

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni33 – 455Lysine-ketoglutarate reductaseAdd BLAST423
Regioni477 – 926Saccharopine dehydrogenaseAdd BLAST450
Regioni577 – 578Saccharopine bindingBy similarity2
Regioni724 – 726Saccharopine bindingBy similarity3

<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

In the N-terminal section; belongs to the AlaDH/PNT family.Curated
In the C-terminal section; belongs to the saccharopine dehydrogenase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0172, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000013249

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_005231_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UDR5

Identification of Orthologs from Complete Genome Data

More...OMAi		KMEGRSE

Database of Orthologous Groups

More...OrthoDBi		498994at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UDR5

TreeFam database of animal gene trees

More...TreeFami		TF105728

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007886, AlaDH/PNT_N
IPR007698, AlaDH/PNT_NAD(H)-bd
IPR036291, NAD(P)-bd_dom_sf
IPR032095, Sacchrp_dh_C
IPR005097, Sacchrp_dh_NADP

Pfam protein domain database

More...Pfami		View protein in Pfam
PF05222, AlaDh_PNT_N, 1 hit
PF16653, Sacchrp_dh_C, 1 hit
PF03435, Sacchrp_dh_NADP, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01002, AlaDh_PNT_C, 1 hit
SM01003, AlaDh_PNT_N, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF51735, SSF51735, 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>Sequence (1+)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 has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q9UDR5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLQVHRTGLG RLGVSLSKGL HHKAVLAVRR EDVNAWERRA PLAPKHIKGI 
        60         70         80         90        100
TNLGYKVLIQ PSNRRAIHDK DYVKAGGILQ EDISEACLIL GVKRPPEEKL 
       110        120        130        140        150
MSRKTYAFFS HTIKAQEANM GLLDEILKQE IRLIDYEKMV DHRGVRVVAF 
       160        170        180        190        200
GQWAGVAGMI NILHGMGLRL LALGHHTPFM HIGMAHNYRN SSQAVQAVRD 
       210        220        230        240        250
AGYEISLGLM PKSIGPLTFV FTGTGNVSKG AQAIFNELPC EYVEPHELKE 
       260        270        280        290        300
VSQTGDLRKV YGTVLSRHHH LVRKTDAVYD PAEYDKHPER YISRFNTDIA 
       310        320        330        340        350
PYTTCLINGI YWEQNTPRLL TRQDAQSLLA PGKFSPAGVE GCPALPHKLV 
       360        370        380        390        400
AICDISADTG GSIEFMTECT TIEHPFCMYD ADQHIIHDSV EGSGILMCSI 
       410        420        430        440        450
DNLPAQLPIE ATECFGDMLY PYVEEMILSD ATQPLESQNF SPVVRDAVIT 
       460        470        480        490        500
SNGTLPDKYK YIQTLRESRE RAQSLSMGTR RKVLVLGSGY ISEPVLEYLS 
       510        520        530        540        550
RDGNIEITVG SDMKNQIEQL GKKYNINPVS MDICKQEEKL GFLVAKQDLV 
       560        570        580        590        600
ISLLPYVLHP LVAKACITNK VNMVTASYIT PALKELEKSV EDAGITIIGE 
       610        620        630        640        650
LGLDPGLDHM LAMETIDKAK EVGATIESYI SYCGGLPAPE HSNNPLRYKF 
       660        670        680        690        700
SWSPVGVLMN VMQSATYLLD GKVVNVAGGI SFLDAVTSMD FFPGLNLEGY 
       710        720        730        740        750
PNRDSTKYAE IYGISSAHTL LRGTLRYKGY MKALNGFVKL GLINREALPA 
       760        770        780        790        800
FRPEANPLTW KQLLCDLVGI SPSSEHDVLK EAVLKKLGGD NTQLEAAEWL 
       810        820        830        840        850
GLLGDEQVPQ AESILDALSK HLVMKLSYGP EEKDMIVMRD SFGIRHPSGH 
       860        870        880        890        900
LEHKTIDLVA YGDINGFSAM AKTVGLPTAM AAKMLLDGEI GAKGLMGPFS 
       910        920 
KEIYGPILER IKAEGIIYTT QSTIKP
Length:926
Mass (Da):102,132
Last modified:May 1, 2000 - v1
<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:iCB4194014351A18D
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WAH1F8WAH1_HUMAN
Lysine ketoglutarate reductase
AASS
732Annotation 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>
F8WE53F8WE53_HUMAN
Alpha-aminoadipic semialdehyde synt...
AASS
511Annotation 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>
H7C0C6H7C0C6_HUMAN
Alpha-aminoadipic semialdehyde synt...
AASS
21Annotation 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>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti589S → C in CAA07619 (Ref. 2) Curated1

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
AF229180 mRNA Translation: AAF44328.1
AJ007714 mRNA Translation: CAA07619.2
AC006020 Genomic DNA Translation: AAF03526.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5783.1

NCBI Reference Sequences

More...RefSeqi		NP_005754.2, NM_005763.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000393376; ENSP00000377040; ENSG00000008311
ENST00000417368; ENSP00000403768; ENSG00000008311

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10157

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10157

UCSC genome browser

More...UCSCi		uc003vka.4, human

<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
AF229180 mRNA Translation: AAF44328.1
AJ007714 mRNA Translation: CAA07619.2
AC006020 Genomic DNA Translation: AAF03526.1
CCDSiCCDS5783.1
RefSeqiNP_005754.2, NM_005763.3

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
5L76X-ray2.57A455-926[»]
5L78X-ray2.68A/B455-926[»]
5O1NX-ray2.28A455-926[»]
5O1OX-ray2.48A/B455-926[»]
5O1PX-ray1.90A455-926[»]
SMRiQ9UDR5
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115459, 36 interactors
IntActiQ9UDR5, 9 interactors
MINTiQ9UDR5
STRINGi9606.ENSP00000377040

Chemistry databases

DrugBankiDB00142, Glutamic acid
DB04207, L-Saccharopine
DB00157, NADH
DB02338, NADPH

PTM databases

CarbonylDBiQ9UDR5
iPTMnetiQ9UDR5
MetOSiteiQ9UDR5
PhosphoSitePlusiQ9UDR5

Genetic variation databases

BioMutaiAASS
DMDMi46396032

Proteomic databases

EPDiQ9UDR5
jPOSTiQ9UDR5
MassIVEiQ9UDR5
MaxQBiQ9UDR5
PaxDbiQ9UDR5
PeptideAtlasiQ9UDR5
PRIDEiQ9UDR5
ProteomicsDBi84114

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		17598, 193 antibodies

Genome annotation databases

EnsembliENST00000393376; ENSP00000377040; ENSG00000008311
ENST00000417368; ENSP00000403768; ENSG00000008311
GeneIDi10157
KEGGihsa:10157
UCSCiuc003vka.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10157
DisGeNETi10157

GeneCards: human genes, protein and diseases

More...GeneCardsi		AASS
HGNCiHGNC:17366, AASS
HPAiENSG00000008311, Low tissue specificity
MalaCardsiAASS
MIMi238700, phenotype
605113, gene
616034, phenotype
neXtProtiNX_Q9UDR5
OpenTargetsiENSG00000008311
Orphaneti2203, Hyperlysinemia
3124, Saccharopinuria
PharmGKBiPA24369
VEuPathDBiHostDB:ENSG00000008311.14

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0172, Eukaryota
GeneTreeiENSGT00390000013249
HOGENOMiCLU_005231_0_1_1
InParanoidiQ9UDR5
OMAiKMEGRSE
OrthoDBi498994at2759
PhylomeDBiQ9UDR5
TreeFamiTF105728

Enzyme and pathway databases

UniPathwayiUPA00868;UER00835
UPA00868;UER00836
BioCyciMetaCyc:HS00244-MONOMER
PathwayCommonsiQ9UDR5
ReactomeiR-HSA-71064, Lysine catabolism
SABIO-RKiQ9UDR5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10157, 9 hits in 872 CRISPR screens

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

More...ChiTaRSi		AASS, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		AASS

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

More...GenomeRNAii		10157
PharosiQ9UDR5, Tbio

Protein Ontology

More...PROi		PR:Q9UDR5
RNActiQ9UDR5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000008311, Expressed in right ovary and 212 other tissues
ExpressionAtlasiQ9UDR5, baseline and differential
GenevisibleiQ9UDR5, HS

Family and domain databases

InterProiView protein in InterPro
IPR007886, AlaDH/PNT_N
IPR007698, AlaDH/PNT_NAD(H)-bd
IPR036291, NAD(P)-bd_dom_sf
IPR032095, Sacchrp_dh_C
IPR005097, Sacchrp_dh_NADP
PfamiView protein in Pfam
PF05222, AlaDh_PNT_N, 1 hit
PF16653, Sacchrp_dh_C, 1 hit
PF03435, Sacchrp_dh_NADP, 1 hit
SMARTiView protein in SMART
SM01002, AlaDh_PNT_C, 1 hit
SM01003, AlaDh_PNT_N, 1 hit
SUPFAMiSSF51735, SSF51735, 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 nameiAASS_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: Q9UDR5
Secondary accession number(s): O95462
<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: April 13, 2004
Last sequence update: May 1, 2000
Last modified: February 10, 2021
This is version 167 of the entry and version 1 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 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
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