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    GLUD1 glutamate dehydrogenase 1 [ Homo sapiens (human) ]

    Gene ID: 2746, updated on 5-May-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
    mouse all
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    Genomic context

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    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
    		Compare labs

    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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