• Gene id: 23576

Gene Summary

• Gene Symbol: DDAH1   Gene   UCSC   Ensembl
• Aliases: DDAH, DDAH-1, DDAHI, HEL-S-16
• Gene name: dimethylarginine dimethylaminohydrolase 1
• Alternate names: N(G),N(G)-dimethylarginine dimethylaminohydrolase 1, NG, NG-dimethylarginine dimethylaminohydrolase, dimethylargininase-1, epididymis secretory protein Li 16,
• Gene location: 1p22.3 (85578273: 85318484)     Exons: 13     NC_000001.11
• Gene summary(Entrez): 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.
• OMIM: 604743

Protein Summary

• Protein general information: O94760  
  • Name: N(G),N(G) dimethylarginine dimethylaminohydrolase 1 (DDAH 1) (Dimethylarginine dimethylaminohydrolase 1) (EC 3.5.3.18) (DDAHI) (Dimethylargininase 1)
  • Length: 285  
  • Mass: 31122
  • Tissue specificity: Detected in brain, liver, kidney and pancreas, and at low levels in skeletal muscle. {ECO
• Sequence:

  MAGLGHPAAFGRATHAVVRALPESLGQHALRSAKGEEVDVARAERQHQLYVGVLGSKLGLQVVELPADESLPDCV
  FVEDVAVVCEETALITRPGAPSRRKEVDMMKEALEKLQLNIVEMKDENATLDGGDVLFTGREFFVGLSKRTNQRG
  AEILADTFKDYAVSTVPVADGLHLKSFCSMAGPNLIAIGSSESAQKALKIMQQMSDHRYDKLTVPDDIAANCIYL
  NIPNKGHVLLHRTPEEYPESAKVYEKLKDHMLIPVSMSELEKVDGLLTCCSVLINKKVDS

• Structural information:
  • Interpro: IPR033199  IPR033197  
  • PDB: 2JAI 2JAJ 3I2E 3I4A 3P8E 3P8P 6DGE 6SZP 6SZQ
  • PDBsum: 2JAI 2JAJ 3I2E 3I4A 3P8E 3P8P 6DGE 6SZP 6SZQ
  • DIP: 61582
  • STRING: ENSP00000284031
• Other Databases: GeneCards:  DDAH1  Malacards:  DDAH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000052	citrulline metabolic process	IBA	biological process
GO:0006525	arginine metabolic process	IBA	biological process
GO:0016597	amino acid binding	IBA	molecular function
GO:0016403	dimethylargininase activity	IBA	molecular function
GO:0016813	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines	IBA	molecular function
GO:0045429	positive regulation of nitric oxide biosynthetic process	IBA	biological process
GO:0000052	citrulline metabolic process	IDA	biological process
GO:0016403	dimethylargininase activity	IDA	molecular function
GO:0000052	citrulline metabolic process	IEA	biological process
GO:0006527	arginine catabolic process	IEA	biological process
GO:0016403	dimethylargininase activity	IEA	molecular function
GO:0045429	positive regulation of nitric oxide biosynthetic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0003824	catalytic activity	TAS	molecular function
GO:0007263	nitric oxide mediated signal transduction	TAS	biological process
GO:0006527	arginine catabolic process	TAS	biological process
GO:0016403	dimethylargininase activity	IEA	molecular function
GO:0050999	regulation of nitric-oxide synthase activity	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0016597	amino acid binding	IEA	molecular function
GO:0006525	arginine metabolic process	IEA	biological process
GO:0045429	positive regulation of nitric oxide biosynthetic process	IEA	biological process
GO:0016403	dimethylargininase activity	IEA	molecular function
GO:0003073	regulation of systemic arterial blood pressure	IEA	biological process
GO:0045766	positive regulation of angiogenesis	IEA	biological process
GO:0045429	positive regulation of nitric oxide biosynthetic process	IEA	biological process
GO:0016403	dimethylargininase activity	IEA	molecular function
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0043116	negative regulation of vascular permeability	IDA	biological process
GO:0003073	regulation of systemic arterial blood pressure	ISS	biological process
GO:0045429	positive regulation of nitric oxide biosynthetic process	ISS	biological process
GO:0045429	positive regulation of nitric oxide biosynthetic process	ISS	biological process
GO:0006527	arginine catabolic process	IDA	biological process
GO:1900038	negative regulation of cellular response to hypoxia	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Hypertension	PMID:16444868
cardiovascular system disease	PMID:16444868
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray