Gene Gene information from NCBI Gene database.
Entrez ID 23576
Gene name Dimethylarginine dimethylaminohydrolase 1
Gene symbol DDAH1
Synonyms (NCBI Gene)
DDAHDDAH-1DDAHIHEL-S-16
Chromosome 1
Chromosome location 1p22.3
Summary This gene belongs to the dimethylarginine dimethylaminohydrolase (DDAH) gene family. The encoded enzyme plays a role in nitric oxide generation by regulating cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity.
miRNA miRNA information provided by mirtarbase database.
1388
miRTarBase ID miRNA Experiments Reference
MIRT003179 hsa-miR-210-3p immunoprecipitaionLuciferase reporter assayMicroarrayqRT-PCR 19826008
MIRT023452 hsa-miR-30b-5p Sequencing 20371350
MIRT025359 hsa-miR-34a-5p Proteomics 21566225
MIRT030838 hsa-miR-21-5p Microarray 18591254
MIRT050653 hsa-miR-18a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000052 Process Citrulline metabolic process IBA
GO:0000052 Process Citrulline metabolic process IDA 19663506
GO:0003073 Process Regulation of systemic arterial blood pressure IEA
GO:0003073 Process Regulation of systemic arterial blood pressure ISS
GO:0003824 Function Catalytic activity TAS 9874257
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604743 2715 ENSG00000153904
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94760
Protein name N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 (DDAH-1) (Dimethylarginine dimethylaminohydrolase 1) (EC 3.5.3.18) (DDAHI) (Dimethylargininase-1)
Protein function Hydrolyzes N(G),N(G)-dimethyl-L-arginine (ADMA) and N(G)-monomethyl-L-arginine (MMA) which act as inhibitors of NOS. Has therefore a role in the regulation of nitric oxide generation. {ECO:0000269|PubMed:18171027, ECO:0000269|PubMed:19663506, EC
PDB 2JAI , 2JAJ , 3I2E , 3I4A , 3P8E , 3P8P , 6DGE , 6SZP , 6SZQ , 7ULU , 7ULV , 7ULX , 7USZ , 7UT0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02274 Amidinotransf 19 279 Family
Tissue specificity TISSUE SPECIFICITY: Detected in brain, liver, kidney and pancreas, and at low levels in skeletal muscle. {ECO:0000269|PubMed:10493931}.
Sequence
Sequence length 285
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    eNOS activation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31503013
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31755389, 40696469 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyloidosis Amyloidosis BEFREE 25499850
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 26226438
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 26226438
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29070803, 30611984
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 29070803, 30611984 Associate
★☆☆☆☆
Found in Text Mining only
Bronchopulmonary Dysplasia Bronchopulmonary Dysplasia BEFREE 26663142
★☆☆☆☆
Found in Text Mining only
Bronchopulmonary Dysplasia Bronchopulmonary dysplasia Pubtator 26663142, 30267614, 34151866, 36757497 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 28741166 Stimulate
★☆☆☆☆
Found in Text Mining only