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    GLUD1 glutamate dehydrogenase 1 [ Homo sapiens (human) ]

    Gene ID: 2746, updated on 5-Nov-2017
    Official Symbol
    GLUD1provided by HGNC
    Official Full Name
    glutamate dehydrogenase 1provided by HGNC
    Primary source
    HGNC:HGNC:4335
    See related
    Ensembl:ENSG00000148672 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:
    10q23.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (87050202..87095047, 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 family with sequence similarity 25 member A Neighboring gene RNA, U6 small nuclear 529, pseudogene Neighboring gene family with sequence similarity 35 member A Neighboring gene RNA, 7SL, cytoplasmic 733, pseudogene Neighboring gene uncharacterized LOC105378410

    • 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 Jun 15 11:32:44 2016

    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
     
    mitochondrion organization TAS
    Traceable Author Statement
    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_001305829.1
    NP_001305830.1
    NP_001305831.1
    NP_001305833.1
    NP_001305834.1
    NP_001305835.1
    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
      ENSP00000277865.4, OTTHUMP00000020018, ENST00000277865.4, 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:113240
      ELFV_dehydrog_N; Glu/Leu/Phe/Val dehydrogenase, dimerization domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      87050202..87095047 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      89091700..89136534 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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