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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for GLUD1 |
Basic gene info. | Gene symbol | GLUD1 |
Gene name | glutamate dehydrogenase 1 | |
Synonyms | GDH|GDH1|GLUD | |
Cytomap | UCSC genome browser: 10q23.3 | |
Genomic location | chr10 :88809958-88854776 | |
Type of gene | protein-coding | |
RefGenes | NM_005271.3, | |
Ensembl id | ENSG00000148672 | |
Description | GDH 1glutamate dehydrogenase (NAD(P)+)glutamate dehydrogenase 1, mitochondrial | |
Modification date | 20141219 | |
dbXrefs | MIM : 138130 | |
HGNC : HGNC | ||
Ensembl : ENSG00000148672 | ||
HPRD : 11748 | ||
Vega : OTTHUMG00000018666 | ||
Protein | UniProt: P00367 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_GLUD1 | |
BioGPS: 2746 | ||
Gene Expression Atlas: ENSG00000148672 | ||
The Human Protein Atlas: ENSG00000148672 | ||
Pathway | NCI Pathway Interaction Database: GLUD1 | |
KEGG: GLUD1 | ||
REACTOME: GLUD1 | ||
ConsensusPathDB | ||
Pathway Commons: GLUD1 | ||
Metabolism | MetaCyc: GLUD1 | |
HUMANCyc: GLUD1 | ||
Regulation | Ensembl's Regulation: ENSG00000148672 | |
miRBase: chr10 :88,809,958-88,854,776 | ||
TargetScan: NM_005271 | ||
cisRED: ENSG00000148672 | ||
Context | iHOP: GLUD1 | |
cancer metabolism search in PubMed: GLUD1 | ||
UCL Cancer Institute: GLUD1 | ||
Assigned class in ccmGDB | A - This gene has a literature evidence and it belongs to cancer gene. | |
References showing role of GLUD1 in cancer cell metabolism | 1. Son J, Lyssiotis CA, Ying H, Wang X, Hua S, et al. (2013) Glutamine supports pancreatic cancer growth through a KRAS-regulated metabolic pathway. Nature 496: 101-105. doi: 10.1038/nature12040. pmid: 3656466. go to article |
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Phenotypic Information for GLUD1(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: GLUD1 |
Familial Cancer Database: GLUD1 |
* This gene is included in those cancer gene databases. |
Oncogene 1 | Significant driver gene in |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
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KEGG_ALANINE_ASPARTATE_AND_GLUTAMATE_METABOLISM KEGG_ARGININE_AND_PROLINE_METABOLISM KEGG_NITROGEN_METABOLISM REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES |
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OMIM | 138130; gene. 606762; phenotype. |
Orphanet | 35878; Hyperinsulinism-hyperammonemia syndrome. |
Disease | KEGG Disease: GLUD1 |
MedGen: GLUD1 (Human Medical Genetics with Condition) | |
ClinVar: GLUD1 | |
Phenotype | MGI: GLUD1 (International Mouse Phenotyping Consortium) |
PhenomicDB: GLUD1 |
Mutations for GLUD1 |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
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- Statistics for Tissue and Mutation type | Top |
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- For Inter-chromosomal Variations |
* Inter-chromosomal variantions includes 'interchromosomal amplicon to amplicon', 'interchromosomal amplicon to non-amplified dna', 'interchromosomal insertion', 'Interchromosomal unknown type'. |
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- For Intra-chromosomal Variations |
* Intra-chromosomal variantions includes 'intrachromosomal amplicon to amplicon', 'intrachromosomal amplicon to non-amplified dna', 'intrachromosomal deletion', 'intrachromosomal fold-back inversion', 'intrachromosomal inversion', 'intrachromosomal tandem duplication', 'Intrachromosomal unknown type', 'intrachromosomal with inverted orientation', 'intrachromosomal with non-inverted orientation'. |
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Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
ovary | GLUD1 | chr10 | 88831297 | 88831317 | CNTN5 | chr11 | 99433954 | 99433974 |
ovary | GLUD1 | chr10 | 88831301 | 88831321 | GLUD1 | chr10 | 88844424 | 88844444 |
ovary | GLUD1 | chr10 | 88831303 | 88831323 | GLUD1 | chr10 | 88844424 | 88844444 |
ovary | GLUD1 | chr10 | 88832057 | 88832077 | CNTN5 | chr11 | 99427255 | 99427275 |
cf) Tissue number; Tissue name (1;Breast, 2;Central_nervous_system, 3;Haematopoietic_and_lymphoid_tissue, 4;Large_intestine, 5;Liver, 6;Lung, 7;Ovary, 8;Pancreas, 9;Prostate, 10;Skin, 11;Soft_tissue, 12;Upper_aerodigestive_tract) |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows GLUD1 related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
BM807517 | GLUD1 | 19 | 186 | 10 | 88811238 | 88811405 | HBG2 | 179 | 201 | 11 | 5350574 | 5350596 | |
BI054523 | UPF2 | 11 | 70 | 10 | 12071117 | 12071176 | GLUD1 | 59 | 141 | 10 | 88811189 | 88811305 |
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Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample | 1 | 2 |   |   |   |   |   |   |   |   |   |   |   |   | 1 |   |   | |||
GAIN (# sample) | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
LOSS (# sample) | 1 | 2 |   |   |   |   |   |   |   |   |   |   |   |   | 1 |   |   |
cf) Tissue ID; Tissue type (1; Breast, 2; Central_nervous_system, 3; Cervix, 4; Endometrium, 5; Haematopoietic_and_lymphoid_tissue, 6; Kidney, 7; Large_intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary_tract) |
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Stat. for Non-Synonymous SNVs (# total SNVs=26) | (# total SNVs=8) |
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(# total SNVs=0) | (# total SNVs=0) |
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* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
chr10:88827869-88827869 | p.R231Q | 2 |
chr10:88811597-88811597 | p.L530V | 2 |
chr10:88811617-88811617 | p.R523H | 2 |
chr10:88820465-88820465 | p.A393T | 1 |
chr10:88822546-88822546 | p.G263E | 1 |
chr10:88854287-88854287 | p.I80I | 1 |
chr10:88817471-88817471 | p.A491T | 1 |
chr10:88820467-88820467 | p.N392S | 1 |
chr10:88822563-88822563 | p.G257G | 1 |
chr10:88854313-88854313 | p.G72R | 1 |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample | 1 | 1 |   | 5 |   |   | 3 |   | 2 |   |   | 2 | 4 | 1 |   |   | 4 | 7 |   | 6 |
# mutation | 2 | 1 |   | 5 |   |   | 3 |   | 2 |   |   | 5 | 4 | 1 |   |   | 4 | 7 |   | 6 |
nonsynonymous SNV | 2 |   |   | 3 |   |   | 2 |   | 2 |   |   | 3 | 3 |   |   |   | 1 | 4 |   | 3 |
synonymous SNV |   | 1 |   | 2 |   |   | 1 |   |   |   |   | 2 | 1 | 1 |   |   | 3 | 3 |   | 3 |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
chr10:88827869 | p.R231Q | 2 |
chr10:88820502 | p.R453S | 1 |
chr10:88854287 | p.G263E | 1 |
chr10:88818926 | p.D63N | 1 |
chr10:88820732 | p.S450S | 1 |
chr10:88834324 | p.G257G | 1 |
chr10:88854335 | p.P43P | 1 |
chr10:88818945 | p.V449V | 1 |
chr10:88820771 | p.A251T | 1 |
chr10:88835729 | p.E419K | 1 |
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* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
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cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, HNSC[Head and Neck squamous cell carcinoma], KICH[Kidney Chromophobe], KIRC[Kidney renal clear cell carcinoma], KIRP[Kidney renal papillary cell carcinoma], LAML[Acute Myeloid Leukemia], LUAD[Lung adenocarcinoma], LUSC[Lung squamous cell carcinoma], OV[Ovarian serous cystadenocarcinoma ], PAAD[Pancreatic adenocarcinoma], PRAD[Prostate adenocarcinoma], SKCM[Skin Cutaneous Melanoma], STAD[Stomach adenocarcinoma], THCA[Thyroid carcinoma], UCEC[Uterine Corpus Endometrial Carcinoma] |
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Gene Expression for GLUD1 |
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* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
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* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
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* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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ACADSB,ZFAND4,C10orf32,ESR1,FAM35A,FAM35DP,FAM35BP, FOXA1,GLUD1,GLUD2,HCAR1,MOAP1,NDFIP1,PLA2G12A, PTGR2,RAB5B,SLC39A9,TAPT1,TBC1D12,TTC8,XBP1 | BZW1,CAB39L,DAZAP2,GLUD1,HIATL1,LOC653566,MEAF6, PIGK,RAB11A,REEP5,SEC22C,SELT,SEP15,SLC44A1, SNX14,TMCO1,TMEM59,SARAF,TMEM9B,UNC50,YWHAQ | ||||
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ASCC1,ATAD1,ATP5C1,CALM2,COX15,CWF19L1,FAM35A, FAM35BP,GDI2,GHITM,GLRX3,GLUD1,GLUD2,GSTO1, MARCH5,MRPL43,NDUFB8,PCGF5,PPA1,SMNDC1,VPS26A | AKR1C3,BPHL,TMEM256,CRYL1,DERA,ELMOD2,FAM35A, FAM35BP,FAM3B,CMTR2,GLUD1,GLUD2,GRAMD1C,MAPK8, NCOA4,PHYH,PPP1CC,RRAS2,SAR1B,SUCLG1,TMEM139 |
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* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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Pharmacological Information for GLUD1 |
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DB Category | DB Name | DB's ID and Url link |
Organism-specific databases | PharmGKB | PA28737; -. |
Organism-specific databases | CTD | 2746; -. |
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* Gene Centered Interaction Network. |
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* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00142 | glutamate dehydrogenase 1 | approved; nutraceutical | L-Glutamic Acid | ![]() | ![]() |
DB00157 | glutamate dehydrogenase 1 | approved; nutraceutical | NADH | ![]() | ![]() |
DB00756 | glutamate dehydrogenase 1 | approved | Hexachlorophene | ![]() | ![]() |
DB01907 | glutamate dehydrogenase 1 | experimental | Nicotinamide-Adenine-Dinucleotide | ![]() | ![]() |
DB03431 | glutamate dehydrogenase 1 | experimental | Adenosine-5'-Diphosphate | ![]() | ![]() |
DB04137 | glutamate dehydrogenase 1 | experimental | Guanosine-5'-Triphosphate | ![]() | ![]() |
DB00130 | glutamate dehydrogenase 1 | approved; nutraceutical; investigational | L-Glutamine | ![]() | ![]() |
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Cross referenced IDs for GLUD1 |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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