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GLUD1 glutamate dehydrogenase 1 [ Homo sapiens (human) ]

Gene ID: 2746, updated on 11-Apr-2024

Summary

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Official Symbol
GLUD1provided by HGNC
Official Full Name
glutamate dehydrogenase 1provided by HGNC
Primary source
HGNC:HGNC:4335
See related
Ensembl:ENSG00000148672 MIM:138130; AllianceGenome:HGNC:4335
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; hGDH1
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]
Expression
Ubiquitous expression in liver (RPKM 169.1), kidney (RPKM 95.6) and 24 other tissues See more
Orthologs
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Genomic context

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See GLUD1 in Genome Data Viewer
Location:
10q23.2
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (87050202..87094843, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (87933838..87978476, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (88809959..88854600, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:88779570-88780070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:88780071-88780571 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:88784270-88785122 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:88785123-88785973 Neighboring gene family with sequence similarity 25 member A Neighboring gene RNA, U6 small nuclear 529, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3704 Neighboring gene NANOG hESC enhancer GRCh37_chr10:88852612-88853149 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2577 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:88855254-88855511 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3705 Neighboring gene shieldin complex subunit 2 Neighboring gene uncharacterized LOC124902475 Neighboring gene RNA, 7SL, cytoplasmic 733, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome. Boodhansingh KE, et al. Horm Res Paediatr, 2022. PMID 35952631, Free PMC Article
  2. Mapping the Intramolecular Communications among Different Glutamate Dehydrogenase States Using Molecular Dynamics. Basith S, et al. Biomolecules, 2021 May 27. PMID 34072154, Free PMC Article
  3. Hyperinsulinism hyperammonaemia (HI/HA) syndrome due to GLUD1 mutation: phenotypic variations ranging from late presentation to spontaneous resolution. Brandt A, et al. J Pediatr Endocrinol Metab, 2020 May 26. PMID 32229669
  4. Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase. Luczkowska K, et al. Hum Genomics, 2020 Mar 6. PMID 32143698, Free PMC Article
  5. Glutamate dehydrogenase inhibits tumor growth in gastric cancer through the Notch signaling pathway. Wu YJ, et al. Cancer Biomark, 2019. PMID 31322543

See all (235) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Bioinformatics analysis identifies GLUD1 as a prognostic indicator for clear cell renal cell carcinoma.
    Title: Bioinformatics analysis identifies GLUD1 as a prognostic indicator for clear cell renal cell carcinoma.
  2. Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
    Title: Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
  3. Glutamate dehydrogenase1 supports HIF-1alpha stability to promote colorectal tumorigenesis under hypoxia.
    Title: Glutamate dehydrogenase1 supports HIF-1α stability to promote colorectal tumorigenesis under hypoxia.
  4. Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome.
    Title: Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome.
  5. Oncogenic circTICRR suppresses autophagy via binding to HuR protein and stabilizing GLUD1 mRNA in cervical cancer.
    Title: Oncogenic circTICRR suppresses autophagy via binding to HuR protein and stabilizing GLUD1 mRNA in cervical cancer.
  6. Cytosolic GDH1 degradation restricts protein synthesis to sustain tumor cell survival following amino acid deprivation.
    Title: Cytosolic GDH1 degradation restricts protein synthesis to sustain tumor cell survival following amino acid deprivation.
  7. Mapping the Intramolecular Communications among Different Glutamate Dehydrogenase States Using Molecular Dynamics.
    Title: Mapping the Intramolecular Communications among Different Glutamate Dehydrogenase States Using Molecular Dynamics.
  8. miR30a5p inhibits hypoxia/reoxygenationinduced oxidative stress and apoptosis in HK2 renal tubular epithelial cells by targeting glutamate dehydrogenase 1 (GLUD1).
    Title: miR‑30a‑5p inhibits hypoxia/reoxygenation‑induced oxidative stress and apoptosis in HK‑2 renal tubular epithelial cells by targeting glutamate dehydrogenase 1 (GLUD1).
  9. Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase.
    Title: Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase.
  10. Hyperinsulinism hyperammonaemia (HI/HA) syndrome due to GLUD1 mutation: phenotypic variations ranging from late presentation to spontaneous resolution.
    Title: Hyperinsulinism hyperammonaemia (HI/HA) syndrome due to GLUD1 mutation: phenotypic variations ranging from late presentation to spontaneous resolution.
Submit: New GeneRIF Correction See all GeneRIFs (80)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hyperinsulinism-hyperammonemia syndrome
MedGen: C1847555 OMIM: 606762 GeneReviews: Familial Hyperinsulinism
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC132003

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ADP binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables GTP binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables L-leucine binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables NAD+ binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables glutamate dehydrogenase (NAD+) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables glutamate dehydrogenase (NAD+) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glutamate dehydrogenase (NADP+) activity IEA
Inferred from Electronic Annotation
more info
  
enables glutamate dehydrogenase [NAD(P)+] activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in glutamate biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in glutamate catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glutamate catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in glutamine metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of insulin secretion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in substantia nigra development HEP PubMed 
involved_in tricarboxylic acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
glutamate dehydrogenase 1, mitochondrial
Names
epididymis secretory sperm binding protein
epididymis tissue sperm binding protein Li 18mP
glutamate dehydrogenase (NAD(P)+)
NP_001305829.1
NP_001305830.1
NP_001305831.1
NP_001305833.1
NP_001305834.1
NP_001305835.1
NP_005262.1
XP_047281055.1
XP_047281056.1
XP_054221592.1
XP_054221593.1

NCBI Reference Sequences (RefSeq)

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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
    5177..49818
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318900.1 → NP_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/TrEMBL
    B4E0N9
    Conserved Domains (3) summary
    cd01076
    Location:130 → 415
    NAD_bind_1_Glu_DH; NAD(P) binding domain of glutamate dehydrogenase, subgroup 1
    pfam00208
    Location:130 → 413
    ELFV_dehydrog; Glutamate/Leucine/Phenylalanine/Valine dehydrogenase
    pfam02812
    Location:17 → 107
    ELFV_dehydrog_N; Glu/Leu/Phe/Val dehydrogenase, dimerization domain

  2. NM_001318901.1 → NP_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
    Consensus CDS
    CCDS91291.1
    UniProtKB/Swiss-Prot
    P00367
    Related
    ENSP00000507729.1, ENST00000684546.1
    Conserved Domains (3) summary
    cd01076
    Location:96 → 381
    NAD_bind_1_Glu_DH; NAD(P) binding domain of glutamate dehydrogenase, subgroup 1
    pfam00208
    Location:96 → 379
    ELFV_dehydrog; Glutamate/Leucine/Phenylalanine/Valine dehydrogenase
    pfam02812
    Location:1 → 73
    ELFV_dehydrog_N; Glu/Leu/Phe/Val dehydrogenase, dimerization domain

  3. NM_001318902.1 → NP_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
    Consensus CDS
    CCDS91291.1
    UniProtKB/Swiss-Prot
    P00367
    Related
    ENSP00000507316.1, ENST00000681988.1
    Conserved Domains (3) summary
    cd01076
    Location:96 → 381
    NAD_bind_1_Glu_DH; NAD(P) binding domain of glutamate dehydrogenase, subgroup 1
    pfam00208
    Location:96 → 379
    ELFV_dehydrog; Glutamate/Leucine/Phenylalanine/Valine dehydrogenase
    pfam02812
    Location:1 → 73
    ELFV_dehydrog_N; Glu/Leu/Phe/Val dehydrogenase, dimerization domain

  4. NM_001318904.2 → NP_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, BC112946, DB089525, M20867
    Consensus CDS
    CCDS91291.1
    UniProtKB/Swiss-Prot
    P00367
    Conserved Domains (3) summary
    cd01076
    Location:96 → 381
    NAD_bind_1_Glu_DH; NAD(P) binding domain of glutamate dehydrogenase, subgroup 1
    pfam00208
    Location:96 → 379
    ELFV_dehydrog; Glutamate/Leucine/Phenylalanine/Valine dehydrogenase
    pfam02812
    Location:1 → 73
    ELFV_dehydrog_N; Glu/Leu/Phe/Val dehydrogenase, dimerization domain

  5. NM_001318905.2 → NP_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, BC112946, DA554359, M20867
    Consensus CDS
    CCDS91291.1
    UniProtKB/Swiss-Prot
    P00367
    Conserved Domains (3) summary
    cd01076
    Location:96 → 381
    NAD_bind_1_Glu_DH; NAD(P) binding domain of glutamate dehydrogenase, subgroup 1
    pfam00208
    Location:96 → 379
    ELFV_dehydrog; Glutamate/Leucine/Phenylalanine/Valine dehydrogenase
    pfam02812
    Location:1 → 73
    ELFV_dehydrog_N; Glu/Leu/Phe/Val dehydrogenase, dimerization domain

  6. NM_001318906.2 → NP_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, BC112946, CD673630, M20867
    Consensus CDS
    CCDS91291.1
    UniProtKB/Swiss-Prot
    P00367
    Conserved Domains (3) summary
    cd01076
    Location:96 → 381
    NAD_bind_1_Glu_DH; NAD(P) binding domain of glutamate dehydrogenase, subgroup 1
    pfam00208
    Location:96 → 379
    ELFV_dehydrog; Glutamate/Leucine/Phenylalanine/Valine dehydrogenase
    pfam02812
    Location:1 → 73
    ELFV_dehydrog_N; Glu/Leu/Phe/Val dehydrogenase, dimerization domain

  7. NM_005271.5 → NP_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, BC112946, M20867
    Consensus CDS
    CCDS7382.1
    UniProtKB/Swiss-Prot
    B3KV55, B4DGN5, P00367, Q5TBU3
    UniProtKB/TrEMBL
    E9KL48, Q53GW3
    Related
    ENSP00000277865.4, ENST00000277865.5
    Conserved Domains (1) summary
    COG0334
    Location:104 → 546
    GdhA; Glutamate dehydrogenase/leucine dehydrogenase [Amino acid transport and metabolism]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    87050202..87094843 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047425100.1 → XP_047281056.1  glutamate dehydrogenase 1, mitochondrial isoform X1

  2. XM_047425099.1 → XP_047281055.1  glutamate dehydrogenase 1, mitochondrial isoform X1

    Related
    ENSP00000507881.1, ENST00000683783.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    87933838..87978476 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365618.1 → XP_054221593.1  glutamate dehydrogenase 1, mitochondrial isoform X1

  2. XM_054365617.1 → XP_054221592.1  glutamate dehydrogenase 1, mitochondrial isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P00367.2 GenPept UniProtKB/Swiss-Prot:P00367

Gene LinkOut

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