Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23576
Gene name Gene Name - the full gene name approved by the HGNC.
Dimethylarginine dimethylaminohydrolase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DDAH1
Synonyms (NCBI Gene) Gene synonyms aliases
DDAH, DDAH-1, DDAHI, HEL-S-16
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT003179 hsa-miR-210-3p immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604743 2715 ENSG00000153904
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Eosinophilia Eosinophilic esophagitis N/A N/A GWAS
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 31755389, 40696469
Breast Neoplasms Associate 29070803, 30611984
Bronchopulmonary Dysplasia Associate 26663142, 30267614, 34151866, 36757497
Carcinoma Hepatocellular Stimulate 28741166
Cardiomyopathy Hypertrophic Associate 37559135
Cardiovascular Diseases Associate 21303562, 36614132
Cognitive Dysfunction Associate 20010544
Coronary Disease Associate 20167924, 35958279
Crohn Disease Associate 32121248
Diabetes Mellitus Associate 36461077