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. |
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
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Leukemia |
Leukemia, Myelocytic, Acute |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 |
27903959 |
Multiple sclerosis |
Multiple Sclerosis |
rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544 View all (4 more) |
24076602 |
Narcolepsy |
Narcolepsy |
rs104894574, rs387906655 |
19629137 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Multiple Sclerosis |
Multiple Sclerosis |
|
|
GWAS |
Alzheimer disease |
Alzheimer disease |
|
|
GWAS |
Eosinophilia |
Eosinophilia |
|
|
GWAS |
|
Associations from Text Mining |
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 |
Diabetes Mellitus Type 2 |
Associate
|
20209122, 21303562, 31733101 |
Diffuse Intrinsic Pontine Glioma |
Stimulate
|
22492959 |
Graves Ophthalmopathy |
Associate
|
24780075 |
Hashimoto's encephalitis |
Associate
|
31585887 |
Hypertension |
Associate
|
25424718, 26786611 |
Hypertension Pulmonary |
Associate
|
26663142, 30267614, 31209995, 34151866 |
Hypoxia |
Stimulate
|
28741166 |
Hypoxia |
Associate
|
37559135 |
Idiopathic Pulmonary Fibrosis |
Associate
|
22700861 |
Insulin Resistance |
Associate
|
31733101 |
Intrauterine Growth Retardation Metaphyseal Dysplasia Adrenal Hypoplasia Congenita And Genital Anomalies |
Associate
|
40696469 |
Melanoma |
Stimulate
|
24574257 |
Mental Disorders |
Associate
|
36233204 |
Myocardial Infarction |
Associate
|
21303562 |
Myotonic Dystrophy |
Associate
|
33879046 |
Neoplasms |
Associate
|
30611984, 32872669 |
Pre Eclampsia |
Associate
|
27064514, 40244094 |
Preeclamptic toxemia |
Associate
|
40244094 |
Renal Insufficiency Chronic |
Associate
|
20010544 |
Stomach Neoplasms |
Associate
|
31151932, 34439753 |
Stroke |
Associate
|
20167924 |
Triple Negative Breast Neoplasms |
Associate
|
30611984 |
Vascular Diseases |
Associate
|
29682517 |
|