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GLUD1 (glutamate dehydrogenase 1)

Identity

Other namesGDH
GDH1
GLUD
HGNC (Hugo) GLUD1
LocusID (NCBI) 2746
Location 10q23.2
Location_base_pair Starts at 88809959 and ends at 88854776 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

External links

Nomenclature
HGNC (Hugo)GLUD1   4335
Cards
Entrez_Gene (NCBI)GLUD1  2746  glutamate dehydrogenase 1
GeneCards (Weizmann)GLUD1
Ensembl hg19 (Hinxton)ENSG00000148672 [Gene_View]  chr10:88809959-88854776 [Contig_View]  GLUD1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000148672 [Gene_View]  chr10:88809959-88854776 [Contig_View]  GLUD1 [Vega]
ICGC DataPortalENSG00000148672
cBioPortalGLUD1
AceView (NCBI)GLUD1
Genatlas (Paris)GLUD1
WikiGenes2746
SOURCE (Princeton)GLUD1
Genomic and cartography
GoldenPath hg19 (UCSC)GLUD1  -     chr10:88809959-88854776 -  10q23.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GLUD1  -     10q23.2   [Description]    (hg38-Dec_2013)
EnsemblGLUD1 - 10q23.2 [CytoView hg19]  GLUD1 - 10q23.2 [CytoView hg38]
Mapping of homologs : NCBIGLUD1 [Mapview hg19]  GLUD1 [Mapview hg38]
OMIM138130   606762   
Gene and transcription
Genbank (Entrez)AB209406 AF086070 AK094782 AK122685 AK222818
RefSeq transcript (Entrez)NM_005271
RefSeq genomic (Entrez)AC_000142 NC_000010 NC_018921 NG_013010 NT_030059 NW_001837992 NW_004929376
Consensus coding sequences : CCDS (NCBI)GLUD1
Cluster EST : UnigeneHs.500409 [ NCBI ]
CGAP (NCI)Hs.500409
Alternative Splicing GalleryENSG00000148672
Gene ExpressionGLUD1 [ NCBI-GEO ]     GLUD1 [ SEEK ]   GLUD1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00367 (Uniprot)
NextProtP00367  [Medical]
With graphics : InterProP00367
Splice isoforms : SwissVarP00367 (Swissvar)
Catalytic activity : Enzyme1.4.1.3 [ Enzyme-Expasy ]   1.4.1.31.4.1.3 [ IntEnz-EBI ]   1.4.1.3 [ BRENDA ]   1.4.1.3 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)GLFV_DEHYDROGENASE (PS00074)   
Domains : Interpro (EBI)Glu/Leu/Phe/Val_DH    Glu/Leu/Phe/Val_DH_C    Glu/Leu/Phe/Val_DH_dimer_dom    NAD(P)-bd_dom   
Related proteins : CluSTrP00367
Domain families : Pfam (Sanger)ELFV_dehydrog (PF00208)    ELFV_dehydrog_N (PF02812)   
Domain families : Pfam (NCBI)pfam00208    pfam02812   
Domain families : Smart (EMBL)ELFV_dehydrog (SM00839)  
DMDM Disease mutations2746
Blocks (Seattle)P00367
PDB (SRS)1L1F    1NR1   
PDB (PDBSum)1L1F    1NR1   
PDB (IMB)1L1F    1NR1   
PDB (RSDB)1L1F    1NR1   
Human Protein AtlasENSG00000148672
Peptide AtlasP00367
HPRD11748
IPIIPI00016801   IPI01015801   IPI01015023   IPI01014382   IPI01010313   IPI00746092   IPI01015433   
Protein Interaction databases
DIP (DOE-UCLA)P00367
IntAct (EBI)P00367
FunCoupENSG00000148672
BioGRIDGLUD1
IntegromeDBGLUD1
STRING (EMBL)GLUD1
Ontologies - Pathways
QuickGOP00367
Ontology : AmiGOglutamate dehydrogenase (NAD+) activity  glutamate dehydrogenase [NAD(P)+] activity  glutamate dehydrogenase [NAD(P)+] activity  protein binding  ATP binding  GTP binding  cytoplasm  mitochondrion  mitochondrial matrix  glutamate biosynthetic process  glutamate catabolic process  glutamine metabolic process  cellular amino acid biosynthetic process  positive regulation of insulin secretion  cellular nitrogen compound metabolic process  identical protein binding  ADP binding  small molecule metabolic process  oxidation-reduction process  NAD+ binding  leucine binding  tricarboxylic acid metabolic process  
Ontology : EGO-EBIglutamate dehydrogenase (NAD+) activity  glutamate dehydrogenase [NAD(P)+] activity  glutamate dehydrogenase [NAD(P)+] activity  protein binding  ATP binding  GTP binding  cytoplasm  mitochondrion  mitochondrial matrix  glutamate biosynthetic process  glutamate catabolic process  glutamine metabolic process  cellular amino acid biosynthetic process  positive regulation of insulin secretion  cellular nitrogen compound metabolic process  identical protein binding  ADP binding  small molecule metabolic process  oxidation-reduction process  NAD+ binding  leucine binding  tricarboxylic acid metabolic process  
Pathways : KEGGAlanine, aspartate and glutamate metabolism    Arginine and proline metabolism    D-Glutamine and D-glutamate metabolism    Nitrogen metabolism    Proximal tubule bicarbonate reclamation   
Protein Interaction DatabaseGLUD1
DoCM (Curated mutations)GLUD1
Wikipedia pathwaysGLUD1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerGLUD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GLUD1
dbVarGLUD1
ClinVarGLUD1
1000_GenomesGLUD1 
Exome Variant ServerGLUD1
SNP (GeneSNP Utah)GLUD1
SNP : HGBaseGLUD1
Genetic variants : HAPMAPGLUD1
Genomic VariantsGLUD1  GLUD1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000148672 
Somatic Mutations in Cancer : COSMICGLUD1 
CONAN: Copy Number AnalysisGLUD1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)10:88809959-88854776
Mutations and Diseases : HGMDGLUD1
OMIM138130    606762   
MedgenGLUD1
NextProtP00367 [Medical]
GENETestsGLUD1
Disease Genetic AssociationGLUD1
Huge Navigator GLUD1 [HugePedia]  GLUD1 [HugeCancerGEM]
snp3D : Map Gene to Disease2746
DGIdb (Drug Gene Interaction db)GLUD1
General knowledge
Homologs : HomoloGeneGLUD1
Homology/Alignments : Family Browser (UCSC)GLUD1
Phylogenetic Trees/Animal Genes : TreeFamGLUD1
Chemical/Protein Interactions : CTD2746
Chemical/Pharm GKB GenePA28737
Clinical trialGLUD1
Cancer Resource (Charite)ENSG00000148672
Other databases
Probes
Litterature
PubMed98 Pubmed reference(s) in Entrez
CoreMineGLUD1
GoPubMedGLUD1
iHOPGLUD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 21:47:47 CET 2014
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