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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GLUD1 Gene

protein-coding GIFtS: 68
GCID: GC10M088809

glutamate dehydrogenase 1

(Previous symbol: GLUD)

Explore 76 diseases affiliated with
GLUD1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Glutamate Dehydrogenase 1¹ ²		GDH1²
GLUD¹ ² ³		Glutamate Dehydrogenase (NAD(P)+)²
GDH¹ ²		Glutamate Dehydrogenase 1, Mitochondrial²
GDH 1² ³		EC 1.4.1⁸
EC 1.4.1.3³ ⁸

External Ids:	HGNC: 4335¹	Entrez Gene: 2746²	Ensembl: ENSG00000148672⁷	OMIM: 138130⁵	UniProtKB: P00367³

Export aliases for GLUD1 gene to outside databases

Previous GC identifers: GC10M087691 GC10M088031 GC10M088941 GC10M088474 GC10M088800 GC10M082663

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GLUD1:

This gene encodes glutamate dehydrogenase protein; a mitochondrial matrix enzyme that catalyzes the oxidative

deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino

acid induced insulin secretion and activating mutations in this gene are a common cause of congenital hyperinsulinism.

This enzyme is allosterically activated by ADP and inhibited by GTP and ATP. The related glutamate dehydrogenase 2

gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of

glutamate dehydrogenase. Multiple pseudogenes of this gene are present in humans.(provided by RefSeq, Sep 2009)

UniProtKB/Swiss-Prot: DHE3_HUMAN, P00367

Function: May be involved in learning and memory reactions by increasing the turnover of the excitatory

neurotransmitter glutamate (By similarity)

Gene Wiki entry for GLUD1 (Glutamate dehydrogenase 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GLUD1 gene promoter:
HOXA9B HOXA9 ER-alpha Elk-1 Pax-2 Pax-2a FOXJ2 (long isoform) ZIC2/Zic2 Meis-1a Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GLUD1 promoter sequence

Search SABiosciences Chromatin IP Primers for GLUD1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GLUD1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q23.3 Ensembl cytogenetic band: 10q23.2 HGNC cytogenetic band: 10q23.2

GLUD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GLUD1 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10M088809: view genomic region (about GC identifiers)

Start:	88,809,959 bp from pter	End:	88,854,776 bp from pter
Size:	44,818 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DHE3_HUMAN, P00367 (See protein sequence)

Recommended Name: Glutamate dehydrogenase 1, mitochondrial precursor

Size: 558 amino acids; 61398 Da

Subunit: Homohexamer

Subcellular location: Mitochondrion matrix

2 PDB 3D structures from and Proteopedia for GLUD1:

1L1F (3D)

1NR1 (3D)

Secondary accessions: Q5TBU3

Explore the universe of human proteins at neXtProt for GLUD1: NX_P00367

Post-translational modifications:

Stoichiometry shows that ADP-ribosylation occurs in one subunit per catalytically active homohexamer¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P00367

4/27 DME Specific Peptides for GLUD1 (P00367) (see all 27)

QGFGNVG

ARRHYSE

ACVTGKP

GSILEAD

GLUD1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005262.1

ENSEMBL proteins:

ENSP00000277865 ENSP00000444732 ENSP00000439291

Reactome Protein details: P00367
Human Recombinant Protein Products for GLUD1:

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	Uscn Proteins for GLUD1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	18688271
GO:0005739	mitochondrion	IDA	--
GO:0005759	mitochondrial matrix	TAS	--

GLUD1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for GLUD1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GLUD1 for domains About GeneDecksing

4 InterPro domains/families:

IPR006096 Glu/Leu/Phe/Val_DH_C

IPR006095 Glu/Leu/Phe/Val_DH

IPR016040 NAD(P)-bd_dom

IPR006097 Glu/Leu/Phe/Val_DH_dimer_dom

Graphical View of Domain Structure for InterPro Entry P00367

ProtoNet protein and cluster: P00367

1 Blocks protein family: IPB006095 Glu/Leu/Phe/Val dehydrogenase

UniProtKB/Swiss-Prot: DHE3_HUMAN, P00367

Similarity: Belongs to the Glu/Leu/Phe/Val dehydrogenases family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: DHE3_HUMAN, P00367

Function: May be involved in learning and memory reactions by increasing the turnover of the excitatory

neurotransmitter glutamate (By similarity)

Catalytic activity: L-glutamate + H(2)O + NAD(P)(+) = 2-oxoglutarate + NH(3) + NAD(P)H

Enzyme regulation: Subject to allosteric regulation. Activated by ADP. Inhibited by GTP and ATP. ADP can occupy the

NADH binding site and activate the enzyme

Genatlas biochemistry entry for GLUD1:

glutamate dehydrogenase 1,key enzyme linking glutamate metabolism with the Krebs cycle and catalyzing the conversion of

alpha-ketoglutarate controlled by allosteric inhibition by GTP

Enzyme Numbers (IUBMB): EC 1.4.1.3¹ ² EC 1.4.1²

Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	--	--
GO:0004352	glutamate dehydrogenase (NAD+) activity	IDA	11903050
GO:0004353	glutamate dehydrogenase [NAD(P)+] activity	IDA	11032875
GO:0005515	protein binding	IPI	16959573
GO:0005524	ATP binding	IEA	--

GLUD1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for GLUD1:

Cell cycle / mitosis defect

3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Glud1):

endocrine/exocrine gland

growth/size

homeostasis/metabolism

GLUD1 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for GLUD1

miRNA Products:		OriGene 3'-UTR Clone: GLUD1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GLUD1
		8/35 QIAGEN miScript miRNA Assays for microRNAs that regulate GLUD1 (see all 35):
		hsa-miR-15a hsa-miR-30d hsa-miR-374a* hsa-miR-4314 hsa-miR-183* hsa-miR-1244 hsa-miR-9 hsa-miR-424

		SwitchGear 3'UTR luciferase reporter plasmid: GLUD1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GLUD1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GLUD1 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLUD1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Arginine and proline metabolism

Arginine and proline metabolism

1.00

Urea cycle and metabolism of amino groups

0.36

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Neuroscience

Neuroscience

1.00

Glucose / Energy Metabolism

Glucose / Energy Metabolism

1.00

Amino acid synthesis and interconversion (transamination)

Amino acid synthesis and interconversion (transamination)

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 Cell Signaling Technology (CST) Pathways for GLUD1

	Neuroscience
	Glucose / Energy Metabolism

1 BioSystems Pathway for GLUD1

Urea cycle and metabolism of amino groups

3 Reactome Pathways for GLUD1

	Metabolism
	Amino acid synthesis and interconversion (transamination)
	Metabolism of amino acids and derivatives

5/6 Kegg Pathways (Kegg details for GLUD1) (see all 6):

	Alanine, aspartate and glutamate metabolism
	Arginine and proline metabolism
	D-Glutamine and D-glutamate metabolism
	Nitrogen metabolism
	Metabolic pathways

GLUD1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for GLUD1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/329 Interacting proteins for GLUD1 (P00367^{2, 3} ENSP00000277865⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 329)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MAP3K1	Q13233²^,³	MINT-48295 I2D: score=2
MAP3K14	Q99558²^,³	MINT-48817 I2D: score=2
ICT1	Q14197²^,³, ENSP00000301585⁴	MINT-8079030 I2D: score=1 STRING: ENSP00000301585
GCK	P35557³, ENSP00000223366⁴	I2D: score=1 STRING: ENSP00000223366
HDAC5	Q9UQL6³, ENSP00000225983⁴	I2D: score=1 STRING: ENSP00000225983

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006520	cellular amino acid metabolic process	--	--
GO:0006537	glutamate biosynthetic process	IDA	11032875
GO:0006538	glutamate catabolic process	IDA	11032875
GO:0008652	cellular amino acid biosynthetic process	TAS	--
GO:0032024	positive regulation of insulin secretion	IMP	11502802

GLUD1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GLUD1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for GLUD1

10/11 HMDB Compounds for GLUD1 (see all 11) About this table

Compound	Synonyms	CAS #	PubMed Ids
Ammonia	NH3 (see all 31)	7664-41-7	--
Famotidine	Amfamox (see all 83)	76824-35-6	--
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--
L-Aspartic acid	(+)-Aspartate (see all 41)	56-84-8	--
L-Glutamic acid	(2S)-2-Aminopentanedioate (see all 49)	56-86-0	--
NAD	3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)	53-84-9	--
NADH	1,4-Dihydronicotinamide adenine dinucleotide (see all 17)	58-68-4	--
NADP	Adenine-nicotinamide dinucleotide phosphate (see all 18)	53-59-8	--
NADPH	2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)	53-57-6	--
Oxoglutaric acid	2-Ketoglutarate (see all 9)	328-50-7	--

6 DrugBank Compounds for GLUD1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Guanosine-5'-Triphosphate	--	86-01-1	target	--	17139284 17016423 10592235
L-Glutamic Acid	(2S)-2-Aminopentanedioic acid (see all 15)	56-86-0	target	--	17139284 8288265 17016423
Nicotinamide-Adenine-Dinucleotide	--	53-84-9	target	--	17139284 17016423 10592235
Adenosine-5'-Diphosphate	--	20398-34-9	target	--	17139284 17016423
Hexachlorophene	--	70-30-4	target	inhibitor	570044 19531491
NADH	beta-DPNH (see all 18)	606-68-8	target	--	17139284 17016423

10/109 Novoseek chemical compound relationships for GLUD1 gene (see all 109) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glutamate	92.2	1268	8271111 (6), 11722565 (6), 2359406 (6), 11746417 (5) (see all 99)
alpha-ketoglutarate	88.6	92	11679254 (2), 17269701 (2), 15895690 (2), 19376872 (2) (see all 60)
adp-ribosylcysteine	76.8	1	11350929 (1)
nadh	76.2	51	17269701 (2), 2007403 (2), 10684881 (2), 15236246 (2) (see all 30)
glutamine	76.1	93	7915141 (4), 11872671 (2), 10516271 (2), 8971000 (2) (see all 59)
nad+	74.2	31	12193607 (4), 10684881 (2), 7811694 (1), 11350929 (1) (see all 18)
aspartate	73.4	83	17078811 (2), 8154228 (2), 1799375 (1), 8000794 (1) (see all 67)
malate	71.6	26	7945441 (2), 8584799 (2), 2082781 (1), 10535746 (1) (see all 22)
acetylpyridine adenine dinucleotide	70.9	3	15165751 (1), 7912492 (1)
gtp	70.3	92	11600502 (8), 11903050 (6), 10453735 (4), 11297618 (3) (see all 30)

Search CenterWatch for drugs/clinical trials and news about GLUD1 / DHE3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GLUD1 gene:

NM_005271.3

Unigene Cluster for GLUD1:

Glutamate dehydrogenase 1

Hs.500409 [show with all ESTs]

Unigene Representative Sequence: NM_005271

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000277865(uc001keh.3) ENST00000487058 ENST00000465164 ENST00000474574

ENST00000544149 ENST00000537649(uc001keg.3 uc010qmp.2)

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		SwitchGear 3'UTR luciferase reporter plasmid: GLUD1 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector: GLUD1 (NM_005271)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GLUD1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GLUD1

Additional cDNA sequence:

AF086070.1 AK094782.1 AK122685.1 AK222818.1 AK294685.1 AK297441.1 AK297456.1 AK303458.1

AK311722.1 BC040132.1 BC112946.1 GU727646.1 J03248.1 M17697.1 M20867.1 M37154.1

X07674.1 X07769.1

21 DOTS entries:

DT.454907 DT.101962257 DT.100818693 DT.91769355 DT.102840028 DT.91769361 DT.99982198 DT.100818694

DT.40111902 DT.91769354 DT.100818695 DT.40297415 DT.91769352 DT.97766798 DT.100760791 DT.121227320

DT.121227329 DT.121227338 DT.303589 DT.95242250 DT.95355575

24/477 AceView cDNA sequences (see all 477):

AA352492 BM836117 BE670198 AW161914 CB161257 BM679111 BG617146 CB068843

AA315132 CA950377 AA300991 BQ007959 M37154 BQ006228 BG740071 BX090516

AA383708 AA122345 AI313435 X07674 N31105 NM_005271 BG563467 BU153078

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for GLUD1 About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7a	·	7b	^	8	^	9	^	10
SP1:					-
SP2:
SP3:
SP4:					-		-		-		-
SP5:							-

ECgene alternative splicing isoforms for GLUD1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GLUD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTTAACCTG

About this image
See GLUD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GLUD1

SOURCE GeneReport for Unigene cluster: Hs.500409
SABiosciences Expression via Pathway-Focused PCR Arrays including GLUD1:

Amino Acid Metabolism I in human mouse rat

Necrosis in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GLUD1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLUD1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for GLUD1 gene from 10/34 species (see all 34) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Glud1^{1 , 5}	glutamate dehydrogenase 1^{1, 5}	92.35(n)¹ 97.85(a)¹		14 (20.80 cM)⁵ 14661¹ NM_008133.4¹ NP_032159.1¹ 34310727⁵
chicken (Gallus gallus)	Aves	GLUD1¹	glutamate dehydrogenase 1	83.89(n) 94.02(a)		423612 XM_421497.3 XP_421497.2
lizard (Anolis carolinensis)	Reptilia	-- --	--	87(a) 74(a)	many → 1 possible ortholog	GL343199.1(4105571-4144227) GL343526.1(441039-463241)
African clawed frog (Xenopus laevis)	Amphibia	Xl.11458²	Xenopus laevis transcribed sequence with moderate similarity more	79.78(n)		CD326857.1
zebrafish (Danio rerio)	Actinopterygii	wufb16e02²	wufb16e02	79.83(n)		321470 BC063940.1
fruit fly (Drosophila melanogaster)	Insecta	Gdh^{1 , 3}	glutamate dehydrogenase (NAD(P)+)³ Glutamate dehydrogenase¹	67(a) (best of 2)³ 66.79(n)¹ 69.52(a)¹		42832¹ NM_079746.5¹ NP_524470.4¹
worm (Caenorhabditis elegans)	Secernentea	ZK829.4³ gdh-1¹	glutamate dehydrogenase³ Protein GDH-1¹	62(a)³ 62.24(n)¹ 63.78(a)¹		IV(11953424-11955386)³ 178130¹ NM_069866.3¹ NP_502267.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	GDH2¹	glutamate dehydrogenase 2	52.84(n) 48.55(a)		830635 NM_001125711.1 NP_001119183.1
rice (Oryza sativa)	Liliopsida	Os02g0650900¹	hypothetical protein	52.95(n) 47.59(a)		4330164 NM_001054124.1 NP_001047589.1
E. coli (Escherichia coli)	Gamma proteobacteria	gdhA⁶	glutamate dehydrogenase, NADP-specific	24(a)	possible ortholog	Chromosome(1840395-1841738)

ENSEMBL Gene Tree for GLUD1 (if available)
TreeFam Gene Tree for GLUD1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for GLUD1 gene

GLUD2²

1 SIMAP similar gene for GLUD1 using alignment to 6 protein entries: DHE3_HUMAN (see all proteins):

GLUD2

GLUD1 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for GLUD1
PGOHUM00000235074 PGOHUM00000241496

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs56275071^1,2	C	pathogenic	88822514(-)	`CTGGCC/TGTGGT`	2	R C	mis¹		0	--	--	--	--
rs184435221^1,2		--	88809469(+)	`CCCAAC/TCAAAA`	1	--	ds500¹		0	--	--	--	--
rs202072919^1,2		--	88809470(+)	`CAACC-/AAAAAA`	1	--	ds500¹		0	--	--	--	--
rs188342738^1,2		--	88809517(+)	`ACTAAA/GACTTA`	1	--	ds500¹		0	--	--	--	--
rs111856755^1,2		--	88809623(+)	`GCCCAC/TCTAGA`	1	--	ds500¹		1		CSA	2
rs143724387^1,2		--	88809859(+)	`CATTCC/TGTGGC`	1	--	ds500¹		0	--	--	--	--
rs17343324^1,2	C,F,H	--	88809923(+)	`TCACTA/GTCAGC`	1	--	ds500¹		28		NA NS EA	2974
rs181813972^1,2		--	88810129(+)	`AAAGTA/GGAAGG`	1	--	ut3¹		0	--	--	--	--
rs184760134^1,2		--	88810143(+)	`TGTTAG/TACAGG`	1	--	ut3¹		0	--	--	--	--
rs188823038^1,2		--	88810178(+)	`TCCAAC/TTGCAG`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for GLUD1 (88809959 - 88854776 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for GLUD1
4 CNVs: 71073 4706 3815 31769
Human Gene Mutation Database (HGMD): GLUD1

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GLUD1 for disorders           About GeneDecksing

OMIM gene information: 138130
OMIM disorders: 606762
UniProtKB/Swiss-Prot: DHE3_HUMAN, P00367

Defects in GLUD1 are the cause of familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]; also

known as hyperinsulinism-hyperammonemia syndrome (HHS). Familial 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

20/76 diseases for GLUD1 (see all 76): About MalaCards

3-hydroxyacyl-coa dehydrogenase deficiency hyperinsulinism succinic semialdehyde dehydrogenase deficiency leucine-sensitive hypoglycemia of infancy

hyperinsulinism-hyperammonemia syndrome maple syrup urine disease persistent hyperinsulinemic hypoglycemia of infancy alpha 1-antitrypsin deficiency

hyperinsulinemic hypoglycemia drug-induced hepatitis hypoglycemia of infancy olivopontocerebellar atrophy

supranuclear palsy progressive supranuclear palsy amyotrophic lateral sclerosis temporal lobe epilepsy

clostridium difficile multiple system atrophy spinocerebellar degeneration hypoglycemia

3 diseases from the University of Copenhagen DISEASES database for GLUD1:

Hyperinsulinemic hypoglycemia Hyperinsulinism Hypoglycemia

10/49 Novoseek disease relationships for GLUD1 gene (see all 49) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hyperinsulinism-hyperammonemia syndrome	92.2	16	15232227 (2), 9571255 (2), 11214910 (2), 19625687 (1) (see all 7)
hyperinsulinism	86.5	49	11201367 (3), 16492430 (2), 16492972 (2), 11502802 (2) (see all 27)
hyperammonemia	79.9	43	16492972 (2), 11502802 (2), 15050973 (2), 11201367 (2) (see all 25)
hypoglycemia	62.4	7	11872671 (1), 12444083 (1), 15530324 (1), 15756227 (1) (see all 6)
olivopontocerebellar atrophies	47.7	3	7914669 (1), 8433819 (1)
liver damage	44	4	10611993 (1), 7493878 (1), 18687108 (1), 8536056 (1)
spinocerebellar degenerations	39.8	3	1740378 (2), 8197908 (1)
encephalopathies metabolic	33.8	1	8122033 (1)
insulinoma	30.3	2	11872671 (1), 14532172 (1)
ketosis	28.9	1	9465772 (1)

Genatlas disease: GLUD1

hyperinsulinism-hyperammonemia syndrome characterized by hyperinsulinemic hypoglycemia with concomittant

hyperammonemia

GeneTests: GLUD1

Familial Hyperinsulinism

Human Genome Epidemiology (HuGE) Navigator: GLUD1 (6 documents)

Export disorders for GLUD1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for GLUD1 gene, integrated from 9 sources (see all 549):
(articles sorted by number of sources associating them with GLUD1)

Utopia: connect your pdf to the dynamic
world of online information

Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations. (PubMed id 11903050)^{1, 2, 9} Fang J....Stanley C.A. (2002)
Structure and expression analysis of a member of the human glutamate dehydrogenase (GLUD) gene family mapped to chromosome 10p11.2. (PubMed id 8314555)^{1, 2, 9} Tzimagiorgis G....Moschonas N.K. (1993)
Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase. (PubMed id 11297618)^{1, 2, 9} MacMullen C.... van Vliet G. (2001)
The human glutamate dehydrogenase gene family: gene organization and structural characterization. (PubMed id 8486350)^{1, 2, 9} Michaelidis T.M.... Papamatheakis J. (1993)
Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome. (PubMed id 11214910)^{1, 2, 9} Santer R.... Schaub J. (2001)
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. (PubMed id 9571255)^{1, 2, 9} Stanley C.A.... Poncz M. (1998)
Structural studies on ADP activation of mammalian glutamate dehydrogenase and the evolution of regulation. (PubMed id 12653548)^{1, 2, 9} Banerjee S.... Smith T.J. (2003)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)^{1, 2} Deloukas P.... Rogers J. (2004)
The structure of apo human glutamate dehydrogenase details subunit communication and allostery. (PubMed id 12054821)^{1, 2} Smith T.J.... Stanley C.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2746	HGNC: 4335	AceView: GLUD1	Ensembl:ENSG00000148672	euGenes: HUgn2746
ECgene: GLUD1	Kegg: 2746	H-InvDB: GLUD1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for GLUD1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GLUD1
Wikipedia	http://en.wikipedia.org/wiki/Glutamate_dehydrogenase_1

Intellectual Property for GLUD1 gene
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Patent Information for GLUD1 gene:
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glutamate dehydrogenase 1

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GLUD1 Gene

glutamate dehydrogenase 1

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