GLUD1 glutamate dehydrogenase 1 [Homo sapiens] - Gene

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Summary

Official Symbol: GLUD1provided by HGNC
Official Full Name: glutamate dehydrogenase 1provided by HGNC
Primary source: HGNC:4335
See related: Ensembl:ENSG00000148672; HPRD:11748; MIM:138130; Vega:OTTHUMG00000018666
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GDH; GDH1; GLUD; MGC132003
Summary: 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]

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Genomic context

Location :: 10q23.3

Sequence :: Chromosome: 10; NC_000010.10 (88809959..88854776, complement)

See GLUD1 in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
GDH interactions with aristolochic acid induce apoptosis of renal tubular epithelial cells.
Title: Glutamate dehydrogenase requirement for apoptosis induced by aristolochic acid in renal tubular epithelial cells.
Report glutamate dehydrogenase mutations in Japanese patients with congenital hyperinsulinism and hyperammonemia syndrome.
Title: Spectrum of glutamate dehydrogenase mutations in Japanese patients with congenital hyperinsulinism and hyperammonemia syndrome.
Green tea polyphenols control dysregulated glutamate dehydrogenase in transgenic mice by hijacking the ADP activation site.
Title: Green tea polyphenols control dysregulated glutamate dehydrogenase in transgenic mice by hijacking the ADP activation site.
In Chinese, R269H, S445L mutation of the GLUD1 leads to congenital hyperinsulinism.
Title: [Mutation analysis of the GLUD1 gene in patients with glutamate dehydrogenase congenital hyperinsulinism].
Gradual decrease in leukocyte GLDH activity may be a key factor for neurodegenerative aging processes.
Title: Glutamate dehydrogenase activity in leukocytes and ageing.
This protein has been found differentially expressed in the anterior cingulate cortex in women patients with schizophrenia.
Title: Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction See all (33)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Hyperinsulinism-hyperammonemia syndrome

MIM: 606762

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Products	Interactant	Other Gene	Source	Pubs	Description
P00367	P63167	DYNLL1	HPRD	PubMed
P00367	P00367	GLUD1	HPRD	PubMed
P00367	P00505	GOT2	HPRD	PubMed
BioGRID:109008	BioGRID:971788	EBNA-LP	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109008	BioGRID:115331	HDAC5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109008	BioGRID:109622	ICT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109008	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ADP binding	IDA Inferred from Direct Assay more info	PubMed
ATP binding	IEA Inferred from Electronic Annotation more info
GTP binding	IDA Inferred from Direct Assay more info	PubMed
NAD+ binding	IDA Inferred from Direct Assay more info	PubMed
glutamate dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
glutamate dehydrogenase [NAD(P)+] activity	EXP Inferred from Experiment more info
glutamate dehydrogenase [NAD(P)+] activity	IDA Inferred from Direct Assay more info	PubMed
identical protein binding	TAS Traceable Author Statement more info	PubMed
leucine binding	IDA Inferred from Direct Assay more info	PubMed
nucleotide binding	IEA Inferred from Electronic Annotation more info
oxidoreductase activity	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
cellular amino acid biosynthetic process	TAS Traceable Author Statement more info
cellular nitrogen compound metabolic process	TAS Traceable Author Statement more info
glutamate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
glutamate catabolic process	IDA Inferred from Direct Assay more info	PubMed
positive regulation of insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
mitochondrial matrix	TAS Traceable Author Statement more info
mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: glutamate dehydrogenase 1, mitochondrial

Names: glutamate dehydrogenase 1, mitochondrial; GDH 1; glutamate dehydrogenase (NAD(P)+)

NP_005262.1

EC 1.4.1.3

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013010.1 RefSeqGene

Range

5001..49818

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005271.3 → NP_005262.1 glutamate dehydrogenase 1, mitochondrial precursor

Status: REVIEWED

Source sequence(s)

AF086070, BC112946, DB460681

Consensus CDS

CCDS7382.1

UniProtKB/TrEMBL

E9KL48

UniProtKB/Swiss-Prot

P00367

Related

ENSP00000277865, OTTHUMP00000020018, ENST00000277865, OTTHUMT00000049188

Conserved Domains (3) summary

COG0334
Location:82 – 555
Blast Score: 929

GdhA; Glutamate dehydrogenase/leucine dehydrogenase [Amino acid transport and metabolism]

cd01076
Location:263 – 548
Blast Score: 883

NAD_bind_1_Glu_DH; NAD(P) binding domain of glutamate dehydrogenase, subgroup 1

pfam02812
Location:112 – 240
Blast Score: 505

ELFV_dehydrog_N; Glu/Leu/Phe/Val dehydrogenase, dimerisation domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000010.10 Reference GRCh37.p5 Primary Assembly

Range

88809959..88854776, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

82663600..82708547, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL136982.11	CAI17120.1
genomic	CH471142.2	EAW80300.1
		EAW80301.1
		EAW80302.1
		EAW80303.1
		EAW80304.1
genomic	HH961834.1	CBX51390.1
genomic	S60498.1	None
genomic	X66300.1	CAA46994.2
genomic	X66312.1	CAA46996.1
mRNA	AB209406.1	BAD92643.1
mRNA	AF086070.1	None
mRNA	AK094782.1	BAG52930.1
mRNA	AK122685.1	BAG53667.1
mRNA	AK222818.1	BAD96538.1
mRNA	AK294685.1	BAG57846.1
mRNA	AK297441.1	BAG59867.1
mRNA	AK297456.1	BAG59880.1
mRNA	AK303458.1	BAG64501.1
mRNA	AK311722.1	None
mRNA	BC040132.1	AAH40132.1
mRNA	BC112946.1	AAI12947.1
mRNA	DB460681.1	None
mRNA	GU727646.1	ADU87647.1
mRNA	J03248.1	AAA52523.1
mRNA	M17697.1	AAA52524.1
mRNA	M20867.1	AAA52526.1
mRNA	M37154.1	AAA52525.1
mRNA	X07674.1	CAA30521.1
mRNA	X07769.1	CAA30598.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P00367.2	GenPept	UniProtKB/Swiss-Prot:P00367
Q14400	GenPept	UniProtKB/TrEMBL:Q14400
Q53GW3	GenPept	UniProtKB/TrEMBL:Q53GW3
Q59FQ4	GenPept	UniProtKB/TrEMBL:Q59FQ4
Q9UQV0	GenPept	UniProtKB/TrEMBL:Q9UQV0