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GLUD1 glutamate dehydrogenase 1 [ Homo sapiens (human) ]

Gene ID: 2746, updated on 7-Aug-2014
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
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]
See GLUD1 in Epigenomics, MapViewer
Location:
10q23.3
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 10 NC_000010.11 (87050202..87095019, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (88809959..88854776, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and GTPase domain Arf GTPase activating protein 11 Neighboring gene BMS1 pseudogene 3 Neighboring gene family with sequence similarity 25, member A Neighboring gene family with sequence similarity 35, member A Neighboring gene uncharacterized LOC102723782 Neighboring gene NUT family member 2A

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC132003

Gene Ontology Provided by GOA

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 
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 
glutamine metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of insulin secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
tricarboxylic acid metabolic process ISS
Inferred from Sequence or Structural Similarity
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 
Preferred Names
glutamate dehydrogenase 1, mitochondrial
Names
glutamate dehydrogenase 1, mitochondrial
GDH 1
glutamate dehydrogenase (NAD(P)+)
NP_005262.1

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

  1. NG_013010.1 

    Range
    5001..49818
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to NP_005262.1

    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
    cd01076
    Location:263548
    Blast Score: 889
    NAD_bind_1_Glu_DH; NAD(P) binding domain of glutamate dehydrogenase, subgroup 1
    COG0334
    Location:104546
    Blast Score: 1002
    GdhA; Glutamate dehydrogenase/leucine dehydrogenase [Amino acid transport and metabolism]
    pfam02812
    Location:112240
    Blast Score: 520
    ELFV_dehydrog_N; Glu/Leu/Phe/Val dehydrogenase, dimerization domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 

    Range
    87050202..87095019
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000142.1 

    Range
    82663600..82708547
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 

    Range
    89091700..89136514
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)