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mutLBSgeneDB |
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| Gene summary for DDAH1 |
 Gene summary |
| Basic gene Info. | Gene symbol | DDAH1 |
| Gene name | dimethylarginine dimethylaminohydrolase 1 | |
| Synonyms | DDAH|HEL-S-16 | |
| Cytomap | UCSC genome browser: 1p22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001134445.1, NM_012137.3, | |
| Description | DDAH-1DDAHIN(G),N(G)-dimethylarginine dimethylaminohydrolase 1NG, NG-dimethylarginine dimethylaminohydrolasedimethylargininase-1epididymis secretory protein Li 16 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604743 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000153904 | ||
| HPRD : 09203 | ||
| Vega : OTTHUMG00000010578 | ||
| Protein | UniProt: O94760 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_DDAH1 | |
| BioGPS: 23576 | ||
| Pathway | NCI Pathway Interaction Database: DDAH1 | |
| KEGG: DDAH1 | ||
| REACTOME: DDAH1 | ||
| Pathway Commons: DDAH1 | ||
| Context | iHOP: DDAH1 | |
| ligand binding site mutation search in PubMed: DDAH1 | ||
| UCL Cancer Institute: DDAH1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0000052 | citrulline metabolic process | 19663506 |
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| Ligand binding site mutations for DDAH1 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | C274 | S276L | OV | 1 | R145 | S143Y | SKCM | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, 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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| Protein structure related information for DDAH1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | R145 | S143Y | -0.44751919 | C274 | S276L | -0.064543082 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for DDAH1 from PDB |
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| Differential gene expression and gene-gene network for DDAH1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for DDAH1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0023895 | Liver Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for DDAH1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|nutraceutical | DB00155 | L-Citrulline | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of DDAH1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | LN7 | N~5~-[(1S)-1-AMINOPENTYL]-L-ORNITHINE | 3p8e | B | C274 | LN6 | N5-(1-IMINOPENTYL)-L-ORNITHINE | 3p8p | A | R145 | LN6 | N5-(1-IMINOPENTYL)-L-ORNITHINE | 3p8p | B | R145 | LN5 | N5-(1-IMINOPROPYL)-L-ORNITHINE | 3i4a | A | R145 C274 | LN5 | N5-(1-IMINOPROPYL)-L-ORNITHINE | 3i4a | B | R145 C274 | LN7 | N~5~-[(1S)-1-AMINOPENTYL]-L-ORNITHINE | 3p8e | A | R145 C274 |
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| Conservation information for LBS of DDAH1 |
| Multiple alignments for O94760 in multiple species |
| LBS | AA sequence | # species | Species | C274 | DGLLTCCSVFI | 2 | Mus musculus, Rattus norvegicus | C274 | DGLLTCCSVLI | 1 | Homo sapiens | C274 | DGLLTCSSVLI | 1 | Bos taurus | D269 | ELEKVDGLLTC | 2 | Homo sapiens, Bos taurus | D269 | EMEKVDGLLTC | 2 | Mus musculus, Rattus norvegicus | D73 | DESLPDCVFVE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D79 | CVFVEDVAVVC | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E78 | DCVFVEDVAVV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | F76 | LPDCVFVEDVA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G129 | ATLDGGDVLFT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H173 | VADSLHLKSFC | 2 | Mus musculus, Rattus norvegicus | H173 | VADGLHLKSFC | 1 | Homo sapiens | H173 | VVDALHLKSFC | 1 | Bos taurus | K175 | DSLHLKSFCSM | 2 | Mus musculus, Rattus norvegicus | K175 | DGLHLKSFCSM | 1 | Homo sapiens | K175 | DALHLKSFCSM | 1 | Bos taurus | L30 | LCRHALRRSQG | 2 | Mus musculus, Rattus norvegicus | L30 | LGQHALRSAKG | 1 | Homo sapiens | L30 | LAQQALRRTKG | 1 | Bos taurus | N221 | DDMAANCIYLN | 2 | Mus musculus, Rattus norvegicus | N221 | DDIAANCIYLN | 1 | Homo sapiens | N221 | DDTAANCIYLN | 1 | Bos taurus | R145 | VGLSKRTNQRG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | R98 | PGAPSRRKEVD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R98 | PGAPSRRKEAD | 1 | Bos taurus | S176 | SLHLKSFCSMA | 2 | Mus musculus, Rattus norvegicus | S176 | GLHLKSFCSMA | 1 | Homo sapiens | S176 | ALHLKSFCSMA | 1 | Bos taurus | T273 | VDGLLTCCSVF | 2 | Mus musculus, Rattus norvegicus | T273 | VDGLLTCCSVL | 1 | Homo sapiens | T273 | VDGLLTCSSVL | 1 | Bos taurus | V268 | SELEKVDGLLT | 2 | Homo sapiens, Bos taurus | V268 | SEMEKVDGLLT | 2 | Mus musculus, Rattus norvegicus |
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