Human Gene DDAH1 (uc001dlc.3) Description and Page Index
Description: Homo sapiens dimethylarginine dimethylaminohydrolase 1 (DDAH1), transcript variant 2, mRNA. RefSeq Summary (NM_001134445): 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. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr1:85,784,168-86,044,046 Size: 259,879 Total Exon Count: 7 Strand: - Coding Region Position: hg19 chr1:85,787,135-85,824,524 Size: 37,390 Coding Exon Count: 5
ID:DDAH1_HUMAN DESCRIPTION: RecName: Full=N(G),N(G)-dimethylarginine dimethylaminohydrolase 1; Short=DDAH-1; Short=Dimethylarginine dimethylaminohydrolase 1; EC=22.214.171.124; AltName: Full=DDAHI; AltName: Full=Dimethylargininase-1; 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. CATALYTIC ACTIVITY: N(omega),N(omega)-dimethyl-L-arginine + H(2)O = dimethylamine + L-citrulline. ENZYME REGULATION: Inhibited by zinc ions (By similarity). Enzyme purified in the absence of 1,10-phenanthroline contains on average 0.4 zinc atoms per subunit. Inhibited by 4-hydroxy-nonenal through the formation of a covalent adduct with His-173. Competitively inhibited by N(5)-iminopropyl-ornithine. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=69 uM for asymmetric dimethylarginine (ADMA); KM=54 uM for monomethyl-L-arginine (MMA); KM=3.1 uM for S-methyl-L-thiocitrulline; Vmax=356 nmol/min/mg enzyme with ADMA; Vmax=154 nmol/min/mg enzyme with NMA; pH dependence: Optimum pH is 8.5; SUBUNIT: Monomer. TISSUE SPECIFICITY: Detected in brain, liver, kidney and pancreas, and at low levels in skeletal muscle. SIMILARITY: Belongs to the DDAH family.
Genetic Association Studies of Complex Diseases and Disorders
preeclampsia Akbar, F. et al. 2004, Haplotypic association of DDAH1 with susceptibility to pre-eclampsia, Molecular human reproduction. 2005 Jan;11(1):73-7.
The observed haplotypic association provides the first evidence of the importance of DDAH1 polymorphisms in pre-eclampsia susceptibility.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O94760
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.