Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
2746 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Glutamate dehydrogenase 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
GLUD1 |
SynonymsGene synonyms aliases
|
GDH, GDH1, GLUD, hGDH1 |
ChromosomeChromosome number
|
10 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
10q23.2 |
SummarySummary 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 |
SNPsSNP 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 |
rs121909734 |
C>A,T |
Pathogenic |
Missense variant, coding sequence variant |
rs121909735 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
rs121909736 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs121909737 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs797045597 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1554906133 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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 |
|
Sequence length |
558 |
Interactions |
View interactions |