Format

Send to:

Choose Destination

GLUD1 glutamate dehydrogenase 1 [ Homo sapiens (human) ]

Gene ID: 2746, updated on 8-May-2016
Official Symbol
GLUD1provided by HGNC
Official Full Name
glutamate dehydrogenase 1provided by HGNC
Primary source
HGNC: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, 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]
Orthologs
Location:
10q23.3
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 ArfGAP with GTPase domain, ankyrin repeat and PH domain 11 Neighboring gene BMS1, ribosome biogenesis factor 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 uncharacterized LOC105378410

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
PubMed 
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
 
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 
substantia nigra development IEP
Inferred from Expression Pattern
more info
PubMed 
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
epididymis tissue sperm binding protein Li 18mP
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 RefSeqGene

    Range
    4973..49818
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318900.1NP_001305829.1  glutamate dehydrogenase 1, mitochondrial isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' terminal exon, and it thus differs in its 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (b) has a distinct and shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AF086070, AK294685, BC112946
    UniProtKB/Swiss-Prot
    P00367
    Conserved Domains (3) summary
    cd01076
    Location:130415
    NAD_bind_1_Glu_DH; NAD(P) binding domain of glutamate dehydrogenase, subgroup 1
    pfam00208
    Location:130413
    ELFV_dehydrog; Glutamate/Leucine/Phenylalanine/Valine dehydrogenase
    pfam02812
    Location:17107
    ELFV_dehydrog_N; Glu/Leu/Phe/Val dehydrogenase, dimerization domain
  2. NM_001318901.1NP_001305830.1  glutamate dehydrogenase 1, mitochondrial isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains alternate 5' exon structure, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Variants 3, 4, 5, 6 and 7 all encode isoform c.
    Source sequence(s)
    AF086070, AK122685, AK294685, BC112946
    UniProtKB/Swiss-Prot
    P00367
    Conserved Domains (3) summary
    cd01076
    Location:96381
    NAD_bind_1_Glu_DH; NAD(P) binding domain of glutamate dehydrogenase, subgroup 1
    pfam00208
    Location:96379
    ELFV_dehydrog; Glutamate/Leucine/Phenylalanine/Valine dehydrogenase
    pfam02812
    Location:173
    ELFV_dehydrog_N; Glu/Leu/Phe/Val dehydrogenase, dimerization domain
  3. NM_001318902.1NP_001305831.1  glutamate dehydrogenase 1, mitochondrial isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains alternate 5' exon structure, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Variants 3, 4, 5, 6 and 7 all encode isoform c.
    Source sequence(s)
    AF086070, AK294685, BC112946, DB206804
    UniProtKB/Swiss-Prot
    P00367
    Conserved Domains (3) summary
    cd01076
    Location:96381
    NAD_bind_1_Glu_DH; NAD(P) binding domain of glutamate dehydrogenase, subgroup 1
    pfam00208
    Location:96379
    ELFV_dehydrog; Glutamate/Leucine/Phenylalanine/Valine dehydrogenase
    pfam02812
    Location:173
    ELFV_dehydrog_N; Glu/Leu/Phe/Val dehydrogenase, dimerization domain
  4. NM_001318904.1NP_001305833.1  glutamate dehydrogenase 1, mitochondrial isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an additional exon in the 5' region, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Variants 3, 4, 5, 6 and 7 all encode isoform c.
    Source sequence(s)
    AF086070, AL136982, BC112946, DB089525, DB502942, M20867
    UniProtKB/Swiss-Prot
    P00367
    Conserved Domains (3) summary
    cd01076
    Location:96381
    NAD_bind_1_Glu_DH; NAD(P) binding domain of glutamate dehydrogenase, subgroup 1
    pfam00208
    Location:96379
    ELFV_dehydrog; Glutamate/Leucine/Phenylalanine/Valine dehydrogenase
    pfam02812
    Location:173
    ELFV_dehydrog_N; Glu/Leu/Phe/Val dehydrogenase, dimerization domain
  5. NM_001318905.1NP_001305834.1  glutamate dehydrogenase 1, mitochondrial isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains three additional exons in the 5' region, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Variants 3, 4, 5, 6 and 7 all encode isoform c.
    Source sequence(s)
    AF086070, AL136982, BC112946, DA554359, DB502942, M20867
    UniProtKB/Swiss-Prot
    P00367
    Conserved Domains (3) summary
    cd01076
    Location:96381
    NAD_bind_1_Glu_DH; NAD(P) binding domain of glutamate dehydrogenase, subgroup 1
    pfam00208
    Location:96379
    ELFV_dehydrog; Glutamate/Leucine/Phenylalanine/Valine dehydrogenase
    pfam02812
    Location:173
    ELFV_dehydrog_N; Glu/Leu/Phe/Val dehydrogenase, dimerization domain
  6. NM_001318906.1NP_001305835.1  glutamate dehydrogenase 1, mitochondrial isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) contains an additional exon in the 5' region, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Variants 3, 4, 5, 6 and 7 all encode isoform c.
    Source sequence(s)
    AF086070, AL136982, BC112946, CD673630, DB502942, M20867
    UniProtKB/Swiss-Prot
    P00367
    Conserved Domains (3) summary
    cd01076
    Location:96381
    NAD_bind_1_Glu_DH; NAD(P) binding domain of glutamate dehydrogenase, subgroup 1
    pfam00208
    Location:96379
    ELFV_dehydrog; Glutamate/Leucine/Phenylalanine/Valine dehydrogenase
    pfam02812
    Location:173
    ELFV_dehydrog_N; Glu/Leu/Phe/Val dehydrogenase, dimerization domain
  7. NM_005271.4NP_005262.1  glutamate dehydrogenase 1, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_005262.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AF086070, AL136982, BC112946, DB502942, M20867
    Consensus CDS
    CCDS7382.1
    UniProtKB/Swiss-Prot
    P00367
    UniProtKB/TrEMBL
    E9KL48
    Related
    ENSP00000277865, OTTHUMP00000020018, ENST00000277865, OTTHUMT00000049188
    Conserved Domains (3) summary
    cd01076
    Location:263548
    NAD_bind_1_Glu_DH; NAD(P) binding domain of glutamate dehydrogenase, subgroup 1
    COG0334
    Location:104546
    GdhA; Glutamate dehydrogenase/leucine dehydrogenase [Amino acid transport and metabolism]
    pfam02812
    Location:112240
    ELFV_dehydrog_N; Glu/Leu/Phe/Val dehydrogenase, dimerization domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011539669.1XP_011537971.1  

    Conserved Domains (3) summary
    cd01076
    Location:96381
    NAD_bind_1_Glu_DH; NAD(P) binding domain of glutamate dehydrogenase, subgroup 1
    pfam00208
    Location:96379
    ELFV_dehydrog; Glutamate/Leucine/Phenylalanine/Valine dehydrogenase
    pfam02812
    Location:173
    ELFV_dehydrog_N; Glu/Leu/Phe/Val dehydrogenase, dimerization domain
  2. XM_011539668.1XP_011537970.1  

    Conserved Domains (3) summary
    cd01076
    Location:96381
    NAD_bind_1_Glu_DH; NAD(P) binding domain of glutamate dehydrogenase, subgroup 1
    pfam00208
    Location:96379
    ELFV_dehydrog; Glutamate/Leucine/Phenylalanine/Valine dehydrogenase
    pfam02812
    Location:173
    ELFV_dehydrog_N; Glu/Leu/Phe/Val dehydrogenase, dimerization domain

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

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