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UniProtKB - P00367 (DHE3_HUMAN)

Entry version 222 (22 Apr 2020)
Sequence version 2 (01 Jan 1990)
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Protein

Glutamate dehydrogenase 1, mitochondrial

Gene

GLUD1

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

Mitochondrial glutamate dehydrogenase that converts L-glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle. May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity).By similarity

<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

Subject to allosteric regulation. Activated by ADP. Inhibited by GTP and ATP. ADP can occupy the NADH binding site and activate the enzyme.

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 sitei147SubstrateBy similarity1
Binding sitei171SubstrateBy similarity1
Binding sitei176NADBy similarity1
<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 sitei1831
Binding sitei252NADBy similarity1
Binding sitei266GTPBy similarity1
Binding sitei270GTPBy similarity1
Binding sitei319GTPBy similarity1
Binding sitei322GTPBy similarity1
Binding sitei438SubstrateBy similarity1
Binding sitei444NADBy similarity1
Binding sitei450ADPBy similarity1
Binding sitei516ADPBy 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 bindingi141 – 143NADBy 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
LigandATP-binding, GTP-binding, NADP, Nucleotide-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS07548-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		1.4.1.3 2681

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
R-HSA-8964539 Glutamate and glutamine metabolism

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		P00367

SIGNOR Signaling Network Open Resource

More...SIGNORi		P00367

<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:
Glutamate dehydrogenase 1, mitochondrial (EC:1.4.1.3)
Short name:
GDH 1
<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:GLUD1
Synonyms:GLUD
<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 10

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:4335 GLUD1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		138130 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P00367

<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

Familial hyperinsulinemic hypoglycemia 6 (HHF6)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionFamilial hyperinsulinemic hypoglycemia [MIM:256450], also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. In HHF6 elevated oxidation rate of glutamate to alpha-ketoglutarate stimulates insulin secretion in the pancreatic beta cells, while they impair detoxification of ammonium in the liver.
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_016760270S → C in HHF6; diminished sensitivity to GTP. 1 Publication1
Natural variantiVAR_016761274R → C in HHF6; diminished sensitivity to GTP. 2 PublicationsCorresponds to variant dbSNP:rs56275071EnsemblClinVar.1
Natural variantiVAR_009270318R → K in HHF6. 1 PublicationCorresponds to variant dbSNP:rs121909736EnsemblClinVar.1
Natural variantiVAR_016762318R → T in HHF6; diminished sensitivity to GTP. 1 Publication1
Natural variantiVAR_016763319Y → C in HHF6. 1 PublicationCorresponds to variant dbSNP:rs1554906133EnsemblClinVar.1
Natural variantiVAR_016764322R → C in HHF6; diminished sensitivity to GTP. 1 Publication1
Natural variantiVAR_016765322R → H in HHF6; diminished sensitivity to GTP. 2 PublicationsCorresponds to variant dbSNP:rs121909737EnsemblClinVar.1
Natural variantiVAR_009271349E → A in HHF6. 1 PublicationCorresponds to variant dbSNP:rs121909735EnsemblClinVar.1
Natural variantiVAR_008666498S → L in HHF6. 1 PublicationCorresponds to variant dbSNP:rs121909731EnsemblClinVar.1
Natural variantiVAR_008667499G → D in HHF6. 1 PublicationCorresponds to variant dbSNP:rs121909734EnsemblClinVar.1
Natural variantiVAR_008668499G → S in HHF6. 1 PublicationCorresponds to variant dbSNP:rs121909733EnsemblClinVar.1
Natural variantiVAR_008669501S → P in HHF6. 1 PublicationCorresponds to variant dbSNP:rs121909732EnsemblClinVar.1
Natural variantiVAR_008670507H → Y in HHF6; abolishes inhibition by ATP; no effect on activation by ADP. 3 PublicationsCorresponds to variant dbSNP:rs121909730EnsemblClinVar.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>Mutagenesisi501S → A: Reduces activity and inhibition by GTP. 1 Publication1
Mutagenesisi507H → A: Strongly reduces inhibition by GTP. 1
Mutagenesisi516R → A: Abolishes activation by ADP. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		2746

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

More...GeneReviewsi		GLUD1

MalaCards human disease database

More...MalaCardsi		GLUD1
MIMi606762 phenotype

Open Targets

More...OpenTargetsi		ENSG00000148672

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

More...Orphaneti		35878 Hyperinsulinism-hyperammonemia syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28737

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P00367 Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB11081 Aluminum chloride
DB00142 Glutamic acid
DB04137 Guanosine-5'-Triphosphate
DB00756 Hexachlorophene
DB00157 NADH

DrugCentral

More...DrugCentrali		P00367

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GLUD1

Domain mapping of disease mutations (DMDM)

More...DMDMi		118541

<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 – 53MitochondrionCombined sources2 PublicationsAdd BLAST53
<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_000000720654 – 558Glutamate dehydrogenase 1, mitochondrialAdd BLAST505

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 residuei68N6-succinyllysineBy similarity1
Modified residuei79PhosphoserineBy similarity1
Modified residuei84N6-acetyllysine; alternateCombined sources1
Modified residuei84N6-succinyllysine; alternateBy similarity1
Modified residuei110N6-acetyllysine; alternateBy similarity1
Modified residuei110N6-succinyllysine; alternateBy similarity1
Modified residuei128PhosphoserineBy similarity1
Modified residuei135PhosphotyrosineBy similarity1
Modified residuei162N6-acetyllysine; alternateBy similarity1
Modified residuei162N6-succinyllysine; alternateBy similarity1
Modified residuei171N6-acetyllysineBy similarity1
Modified residuei172ADP-ribosylcysteine1 Publication1
Modified residuei183N6-acetyllysine; alternateBy similarity1
Modified residuei183N6-succinyllysine; alternateBy similarity1
Modified residuei187N6-acetyllysineBy similarity1
Modified residuei191N6-acetyllysine; alternateBy similarity1
Modified residuei191N6-succinyllysine; alternateBy similarity1
Modified residuei200N6-succinyllysineBy similarity1
Modified residuei211N6-acetyllysineBy similarity1
Modified residuei227PhosphoserineCombined sources1
Modified residuei326N6-acetyllysineBy similarity1
Modified residuei346N6-acetyllysine; alternateBy similarity1
Modified residuei346N6-succinyllysine; alternateBy similarity1
Modified residuei352N6-acetyllysine; alternateBy similarity1
Modified residuei352N6-succinyllysine; alternateBy similarity1
Modified residuei363N6-acetyllysine; alternateBy similarity1
Modified residuei363N6-succinyllysine; alternateBy similarity1
Modified residuei365N6-acetyllysine; alternateBy similarity1
Modified residuei365N6-succinyllysine; alternateBy similarity1
Modified residuei384PhosphoserineCombined sources1
Modified residuei386N6-acetyllysineBy similarity1
Modified residuei390N6-acetyllysine; alternateBy similarity1
Modified residuei390N6-succinyllysine; alternateBy similarity1
Modified residuei399N6-acetyllysineBy similarity1
Modified residuei410PhosphothreonineBy similarity1
Modified residuei415N6-acetyllysine; alternateBy similarity1
Modified residuei415N6-succinyllysine; alternateBy similarity1
Modified residuei457N6-acetyllysine; alternateBy similarity1
Modified residuei457N6-malonyllysine; alternateBy similarity1
Modified residuei457N6-succinyllysine; alternateBy similarity1
Modified residuei477N6-acetyllysine; alternateBy similarity1
Modified residuei477N6-succinyllysine; alternateBy similarity1
Modified residuei480N6-acetyllysine; alternateCombined sources1
Modified residuei480N6-succinyllysine; alternateBy similarity1
Modified residuei503N6-acetyllysine; alternateCombined sources1
Modified residuei503N6-malonyllysine; alternateBy similarity1
Modified residuei503N6-succinyllysine; alternateBy similarity1
Modified residuei512PhosphotyrosineCombined sources1
Modified residuei527N6-acetyllysine; alternateBy similarity1
Modified residuei527N6-malonyllysine; alternateBy similarity1
Modified residuei527N6-succinyllysine; alternateBy similarity1
Modified residuei545N6-acetyllysine; alternateBy similarity1
Modified residuei545N6-succinyllysine; alternateBy similarity1
Modified residuei548N6-acetyllysineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

ADP-ribosylated by SIRT4, leading to inactivate glutamate dehydrogenase activity (By similarity). Stoichiometry shows that ADP-ribosylation occurs in one subunit per catalytically active homohexamer.By similarity

Keywords - PTMi

Acetylation, ADP-ribosylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P00367

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P00367

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P00367

MaxQB - The MaxQuant DataBase

More...MaxQBi		P00367

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

More...PaxDbi		P00367

PeptideAtlas

More...PeptideAtlasi		P00367

PRoteomics IDEntifications database

More...PRIDEi		P00367

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		3743
4147
51236 [P00367-1]

2D gel databases

REPRODUCTION-2DPAGE

More...REPRODUCTION-2DPAGEi		IPI00016801

Two-dimensional polyacrylamide gel electrophoresis database from the Geneva University Hospital

More...SWISS-2DPAGEi		P00367

University College Dublin 2-DE Proteome Database

More...UCD-2DPAGEi		P00367

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P00367

MetOSite database of methionine sulfoxide sites

More...MetOSitei		P00367

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

More...PhosphoSitePlusi		P00367

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P00367

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000148672 Expressed in hypothalamus and 227 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P00367 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P00367 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000148672 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

Homohexamer.

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		109008, 70 interactors

Protein interaction database and analysis system

More...IntActi		P00367, 58 interactors

Molecular INTeraction database

More...MINTi		P00367

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000277865

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P00367 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

1558
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		P00367

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		P00367

<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 Glu/Leu/Phe/Val dehydrogenases family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2250 Eukaryota
COG0334 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000000854

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_025763_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P00367

KEGG Orthology (KO)

More...KOi		K00261

Identification of Orthologs from Complete Genome Data

More...OMAi		PCFAAFP

Database for complete collections of gene phylogenies

More...PhylomeDBi		P00367

TreeFam database of animal gene trees

More...TreeFami		TF313945

Family and domain databases

Conserved Domains Database

More...CDDi		cd01076 NAD_bind_1_Glu_DH, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR006095 Glu/Leu/Phe/Val_DH
IPR033524 Glu/Leu/Phe/Val_DH_AS
IPR006096 Glu/Leu/Phe/Val_DH_C
IPR006097 Glu/Leu/Phe/Val_DH_dimer_dom
IPR036291 NAD(P)-bd_dom_sf
IPR033922 NAD_bind_Glu_DH

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00208 ELFV_dehydrog, 1 hit
PF02812 ELFV_dehydrog_N, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00082 GLFDHDRGNASE

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00839 ELFV_dehydrog, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF51735 SSF51735, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00074 GLFV_DEHYDROGENASE, 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 (3)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 3 <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
Isoform 1 (identifier: P00367-1) [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.

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MYRYLGEALL LSRAGPAALG SASADSAALL GWARGQPAAA PQPGLALAAR 
        60         70         80         90        100
RHYSEAVADR EDDPNFFKMV EGFFDRGASI VEDKLVEDLR TRESEEQKRN 
       110        120        130        140        150
RVRGILRIIK PCNHVLSLSF PIRRDDGSWE VIEGYRAQHS QHRTPCKGGI 
       160        170        180        190        200
RYSTDVSVDE VKALASLMTY KCAVVDVPFG GAKAGVKINP KNYTDNELEK 
       210        220        230        240        250
ITRRFTMELA KKGFIGPGID VPAPDMSTGE REMSWIADTY ASTIGHYDIN 
       260        270        280        290        300
AHACVTGKPI SQGGIHGRIS ATGRGVFHGI ENFINEASYM SILGMTPGFG 
       310        320        330        340        350
DKTFVVQGFG NVGLHSMRYL HRFGAKCIAV GESDGSIWNP DGIDPKELED 
       360        370        380        390        400
FKLQHGSILG FPKAKPYEGS ILEADCDILI PAASEKQLTK SNAPRVKAKI 
       410        420        430        440        450
IAEGANGPTT PEADKIFLER NIMVIPDLYL NAGGVTVSYF EWLKNLNHVS 
       460        470        480        490        500
YGRLTFKYER DSNYHLLMSV QESLERKFGK HGGTIPIVPT AEFQDRISGA 
       510        520        530        540        550
SEKDIVHSGL AYTMERSARQ IMRTAMKYNL GLDLRTAAYV NAIEKVFKVY 

NEAGVTFT
Length:558
Mass (Da):61,398
Last modified:January 1, 1990 - 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:iA7319A840F57FBB2
GO
Isoform 2 (identifier: P00367-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-167: Missing.

Show »
Length:391
Mass (Da):42,950
Checksum:i8A493E2898605460
GO
Isoform 3 (identifier: P00367-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-16: MYRYLGEALLLSRAGP → MTCPCDNASSVFLGFC
     17-149: Missing.

Show »
Length:425
Mass (Da):46,575
Checksum:i2637B3023F58A7C4
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_016760270S → C in HHF6; diminished sensitivity to GTP. 1 Publication1
Natural variantiVAR_016761274R → C in HHF6; diminished sensitivity to GTP. 2 PublicationsCorresponds to variant dbSNP:rs56275071EnsemblClinVar.1
Natural variantiVAR_009270318R → K in HHF6. 1 PublicationCorresponds to variant dbSNP:rs121909736EnsemblClinVar.1
Natural variantiVAR_016762318R → T in HHF6; diminished sensitivity to GTP. 1 Publication1
Natural variantiVAR_016763319Y → C in HHF6. 1 PublicationCorresponds to variant dbSNP:rs1554906133EnsemblClinVar.1
Natural variantiVAR_016764322R → C in HHF6; diminished sensitivity to GTP. 1 Publication1
Natural variantiVAR_016765322R → H in HHF6; diminished sensitivity to GTP. 2 PublicationsCorresponds to variant dbSNP:rs121909737EnsemblClinVar.1
Natural variantiVAR_009271349E → A in HHF6. 1 PublicationCorresponds to variant dbSNP:rs121909735EnsemblClinVar.1
Natural variantiVAR_008666498S → L in HHF6. 1 PublicationCorresponds to variant dbSNP:rs121909731EnsemblClinVar.1
Natural variantiVAR_008667499G → D in HHF6. 1 PublicationCorresponds to variant dbSNP:rs121909734EnsemblClinVar.1
Natural variantiVAR_008668499G → S in HHF6. 1 PublicationCorresponds to variant dbSNP:rs121909733EnsemblClinVar.1
Natural variantiVAR_008669501S → P in HHF6. 1 PublicationCorresponds to variant dbSNP:rs121909732EnsemblClinVar.1
Natural variantiVAR_008670507H → Y in HHF6; abolishes inhibition by ATP; no effect on activation by ADP. 3 PublicationsCorresponds to variant dbSNP:rs121909730EnsemblClinVar.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_0562441 – 167Missing in isoform 2. 1 PublicationAdd BLAST167
Alternative sequenceiVSP_0565231 – 16MYRYL…SRAGP → MTCPCDNASSVFLGFC in isoform 3. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_05652417 – 149Missing in isoform 3. 1 PublicationAdd BLAST133

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
X07674 mRNA Translation: CAA30521.1
M20867 mRNA Translation: AAA52526.1
M37154 mRNA Translation: AAA52525.1
X07769 mRNA Translation: CAA30598.1
J03248 mRNA Translation: AAA52523.1
X66300 X66312 Genomic DNA Translation: CAA46994.2
AK122685 mRNA Translation: BAG53667.1
AK294685 mRNA Translation: BAG57846.1
AL136982 Genomic DNA Translation: CAI17120.1
CH471142 Genomic DNA Translation: EAW80300.1
CH471142 Genomic DNA Translation: EAW80302.1
BC040132 mRNA Translation: AAH40132.1
BC112946 mRNA Translation: AAI12947.1
X67491 Genomic DNA Translation: CAA47830.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS7382.1 [P00367-1]

Protein sequence database of the Protein Information Resource

More...PIRi		A28208 DEHUE
I37424
S29331
S60192

NCBI Reference Sequences

More...RefSeqi		NP_001305829.1, NM_001318900.1 [P00367-3]
NP_001305830.1, NM_001318901.1 [P00367-2]
NP_001305831.1, NM_001318902.1 [P00367-2]
NP_001305833.1, NM_001318904.1 [P00367-2]
NP_001305834.1, NM_001318905.1 [P00367-2]
NP_001305835.1, NM_001318906.1 [P00367-2]
NP_005262.1, NM_005271.4 [P00367-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000277865; ENSP00000277865; ENSG00000148672 [P00367-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2746

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2746

UCSC genome browser

More...UCSCi		uc001keh.4 human [P00367-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Wikipedia

Glutamate dehydrogenase 1 entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X07674 mRNA Translation: CAA30521.1
M20867 mRNA Translation: AAA52526.1
M37154 mRNA Translation: AAA52525.1
X07769 mRNA Translation: CAA30598.1
J03248 mRNA Translation: AAA52523.1
X66300 X66312 Genomic DNA Translation: CAA46994.2
AK122685 mRNA Translation: BAG53667.1
AK294685 mRNA Translation: BAG57846.1
AL136982 Genomic DNA Translation: CAI17120.1
CH471142 Genomic DNA Translation: EAW80300.1
CH471142 Genomic DNA Translation: EAW80302.1
BC040132 mRNA Translation: AAH40132.1
BC112946 mRNA Translation: AAI12947.1
X67491 Genomic DNA Translation: CAA47830.1
CCDSiCCDS7382.1 [P00367-1]
PIRiA28208 DEHUE
I37424
S29331
S60192
RefSeqiNP_001305829.1, NM_001318900.1 [P00367-3]
NP_001305830.1, NM_001318901.1 [P00367-2]
NP_001305831.1, NM_001318902.1 [P00367-2]
NP_001305833.1, NM_001318904.1 [P00367-2]
NP_001305834.1, NM_001318905.1 [P00367-2]
NP_001305835.1, NM_001318906.1 [P00367-2]
NP_005262.1, NM_005271.4 [P00367-1]

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
1L1FX-ray2.70A/B/C/D/E/F54-558[»]
1NR1X-ray3.30A/B/C/D/E/F63-558[»]
6DQGX-ray2.70A/B/C/D/E/F63-558[»]
SMRiP00367
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi109008, 70 interactors
IntActiP00367, 58 interactors
MINTiP00367
STRINGi9606.ENSP00000277865

Chemistry databases

DrugBankiDB11081 Aluminum chloride
DB00142 Glutamic acid
DB04137 Guanosine-5'-Triphosphate
DB00756 Hexachlorophene
DB00157 NADH
DrugCentraliP00367

PTM databases

iPTMnetiP00367
MetOSiteiP00367
PhosphoSitePlusiP00367
SwissPalmiP00367

Polymorphism and mutation databases

BioMutaiGLUD1
DMDMi118541

2D gel databases

REPRODUCTION-2DPAGEiIPI00016801
SWISS-2DPAGEiP00367
UCD-2DPAGEiP00367

Proteomic databases

EPDiP00367
jPOSTiP00367
MassIVEiP00367
MaxQBiP00367
PaxDbiP00367
PeptideAtlasiP00367
PRIDEiP00367
ProteomicsDBi3743
4147
51236 [P00367-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		16023 233 antibodies

Genome annotation databases

EnsembliENST00000277865; ENSP00000277865; ENSG00000148672 [P00367-1]
GeneIDi2746
KEGGihsa:2746
UCSCiuc001keh.4 human [P00367-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2746
DisGeNETi2746

GeneCards: human genes, protein and diseases

More...GeneCardsi		GLUD1
GeneReviewsiGLUD1
HGNCiHGNC:4335 GLUD1
HPAiENSG00000148672 Tissue enhanced (liver)
MalaCardsiGLUD1
MIMi138130 gene
606762 phenotype
neXtProtiNX_P00367
OpenTargetsiENSG00000148672
Orphaneti35878 Hyperinsulinism-hyperammonemia syndrome
PharmGKBiPA28737

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2250 Eukaryota
COG0334 LUCA
GeneTreeiENSGT00390000000854
HOGENOMiCLU_025763_1_0_1
InParanoidiP00367
KOiK00261
OMAiPCFAAFP
PhylomeDBiP00367
TreeFamiTF313945

Enzyme and pathway databases

BioCyciMetaCyc:HS07548-MONOMER
BRENDAi1.4.1.3 2681
ReactomeiR-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
R-HSA-8964539 Glutamate and glutamine metabolism
SABIO-RKiP00367
SIGNORiP00367

Miscellaneous databases

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

More...ChiTaRSi		GLUD1 human
EvolutionaryTraceiP00367

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Glutamate_dehydrogenase_1

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

More...GenomeRNAii		2746
PharosiP00367 Tbio

Protein Ontology

More...PROi		PR:P00367
RNActiP00367 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000148672 Expressed in hypothalamus and 227 other tissues
ExpressionAtlasiP00367 baseline and differential
GenevisibleiP00367 HS

Family and domain databases

CDDicd01076 NAD_bind_1_Glu_DH, 1 hit
InterProiView protein in InterPro
IPR006095 Glu/Leu/Phe/Val_DH
IPR033524 Glu/Leu/Phe/Val_DH_AS
IPR006096 Glu/Leu/Phe/Val_DH_C
IPR006097 Glu/Leu/Phe/Val_DH_dimer_dom
IPR036291 NAD(P)-bd_dom_sf
IPR033922 NAD_bind_Glu_DH
PfamiView protein in Pfam
PF00208 ELFV_dehydrog, 1 hit
PF02812 ELFV_dehydrog_N, 1 hit
PRINTSiPR00082 GLFDHDRGNASE
SMARTiView protein in SMART
SM00839 ELFV_dehydrog, 1 hit
SUPFAMiSSF51735 SSF51735, 1 hit
PROSITEiView protein in PROSITE
PS00074 GLFV_DEHYDROGENASE, 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 nameiDHE3_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: P00367
Secondary accession number(s): B3KV55, B4DGN5, Q5TBU3
<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: July 21, 1986
Last sequence update: January 1, 1990
Last modified: April 22, 2020
This is version 222 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, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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