GLUD1

glutamate dehydrogenase 1 | GDH, GDH1, hGDH1, GLUD

This gene encodes glutamate dehydrogenase, which is 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. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. 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. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016]

Member of: DE-6

Biological processes 34 terms

ADP binding (GO:0043531)ADP binding (GO:0043531)GTP binding (GO:0005525)GTP binding (GO:0005525)L-glutamate biosynthetic process (GO:0097054)L-glutamate catabolic process (GO:0006538)L-glutamate catabolic process (GO:0006538)L-glutamate catabolic process (GO:0006538)L-glutamate dehydrogenase (NAD+) activity (GO:0004352)L-glutamate dehydrogenase (NAD+) activity (GO:0004352)L-glutamate dehydrogenase (NAD+) activity (GO:0004352)L-glutamate dehydrogenase (NADP+) activity (GO:0004354)L-glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)L-glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)L-glutamine metabolic process (GO:0006541)L-leucine binding (GO:0070728)L-leucine binding (GO:0070728)NAD+ binding (GO:0070403)amino acid metabolic process (GO:0006520)cytoplasm (GO:0005737)endoplasmic reticulum (GO:0005783)endoplasmic reticulum (GO:0005783)mitochondrial matrix (GO:0005759)mitochondrion (GO:0005739)mitochondrion (GO:0005739)mitochondrion (GO:0005739)mitochondrion (GO:0005739)oxidoreductase activity (GO:0016491)oxidoreductase activity, acting on the CH-NH2 group of donors, NAD or NADP as acceptor (GO:0016639)positive regulation of insulin secretion (GO:0032024)protein binding (GO:0005515)protein homodimerization activity (GO:0042803)substantia nigra development (GO:0021762)tricarboxylic acid metabolic process (GO:0072350)

Expression (TPM)

TFs regulating GLUD1 0 TFs

Transcription factors with Perturb-seq knockdown data for GLUD1. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = GLUD1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

TF	Mean coef	Binding	Outlier	TF→Gene link

Rows:

Elements linked to GLUD1

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of GLUD1, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Element	Dist. to TSS	Link type	TFs
chr10:86,693,793–86,694,266	400.9 kb	Distal (>10kb) Multiome HiCAR	132
chr10:86,864,876–86,866,168	229.6 kb	Distal (>10kb) Multiome	123
chr10:86,939,081–86,939,963	155.3 kb	Distal (>10kb) Multiome	539
chr10:86,953,950–86,955,264	140.3 kb	Distal (>10kb) Multiome	348
chr10:86,959,879–86,960,855	134.3 kb	Distal (>10kb) Multiome	453
chr10:86,966,444–86,967,440	127.9 kb	Distal (>10kb) Multiome	479
chr10:86,969,969–86,972,224	123.4 kb	Distal (>10kb) Multiome	505
chr10:87,054,811–87,055,712	39.6 kb	Distal (>10kb) Multiome	179
chr10:87,092,890–87,093,298	1.5 kb	Proximal (<10kb)	374
chr10:87,093,833–87,095,937	212 bp	At TSS Multiome	996
chr10:87,203,498–87,204,198	108.8 kb	Distal (>10kb) Multiome	295
chr10:87,342,231–87,343,299	247.7 kb	Distal (>10kb) Multiome	270

Genome Browser

Genomic view of the GLUD1 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.