Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2746
Gene name Gene Name - the full gene name approved by the HGNC.
Glutamate dehydrogenase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GLUD1
Synonyms (NCBI Gene) Gene synonyms aliases
GDH, GDH1, GLUD, hGDH1
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 secretio
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs56275071 G>A Pathogenic Missense variant, coding sequence variant
rs121909730 G>A Pathogenic Missense variant, coding sequence variant
rs121909731 G>A,C Pathogenic Missense variant, coding sequence variant
rs121909732 A>G Pathogenic Missense variant, coding sequence variant
rs121909733 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT048701 hsa-miR-99a-5p CLASH 23622248
MIRT045359 hsa-miR-185-5p CLASH 23622248
MIRT041407 hsa-miR-193b-3p CLASH 23622248
MIRT038802 hsa-miR-93-3p CLASH 23622248
MIRT724259 hsa-miR-7151-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004352 Function Glutamate dehydrogenase (NAD+) activity IBA 21873635
GO:0004352 Function Glutamate dehydrogenase (NAD+) activity IDA 11903050, 15578726
GO:0004353 Function Glutamate dehydrogenase [NAD(P)+] activity IDA 11032875
GO:0005515 Function Protein binding IPI 16959573
GO:0005524 Function ATP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
138130 4335 ENSG00000148672
Protein
UniProt ID P00367
Protein name Glutamate dehydrogenase 1, mitochondrial (GDH 1) (EC 1.4.1.3)
Protein function Mitochondrial glutamate dehydrogenase that catalyzes the conversion of L-glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle (P
PDB 1L1F , 1NR1 , 6DQG , 7UZM , 8KGY , 8SK8 , 8W4J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02812 ELFV_dehydrog_N 112 242 Glu/Leu/Phe/Val dehydrogenase, dimerisation domain Domain
PF00208 ELFV_dehydrog 263 467 Glutamate/Leucine/Phenylalanine/Valine dehydrogenase Domain
Sequence
MYRYLGEALLLSRAGPAALGSASADSAALLGWARGQPAAAPQPGLALAARRHYSEAVADR
EDDPNFFKMVEGFFDRGASIVEDKLVEDLRTRESEEQKRNRVRGILRIIKPCNHVLSLSF
PIRRDDGSWEVIEGYRAQHSQHRTPCKGGIRYSTDVSVDEVKALASLMTYKCAVVDVPFG
GAKAGVKINPKNYTDNELEKITRRFTMELAKKGFIGPGIDVPAPDMSTGEREMSWIADTY
AS
TIGHYDINAHACVTGKPISQGGIHGRISATGRGVFHGIENFINEASYMSILGMTPGFG
DKTFVVQGFGNVGLHSMRYLHRFGAKCIAVGESDGSIWNPDGIDPKELEDFKLQHGSILG
FPKAKPYEGSILEADCDILIPAASEKQLTKSNAPRVKAKIIAEGANGPTTPEADKIFLER
NIMVIPDLYLNAGGVTVSYFEWLKNLNHVSYGRLTFKYERDSNYHLL
MSVQESLERKFGK
HGGTIPIVPTAEFQDRISGASEKDIVHSGLAYTMERSARQIMRTAMKYNLGLDLRTAAYV
NAIEKVFKVYNEAGVTFT
Sequence length 558
Interactions View interactions