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] See more...

Aliases for DDAH1 Gene

Aliases for DDAH1 Gene

  • Dimethylarginine Dimethylaminohydrolase 1 2 3 4 5
  • DDAH 2 3 4
  • N(G),N(G)-Dimethylarginine Dimethylaminohydrolase 1 3 4
  • Dimethylargininase-1 3 4
  • EC 3.5.3.18 4 51
  • DDAH-1 3 4
  • DDAHI 3 4
  • NG, NG-Dimethylarginine Dimethylaminohydrolase 3
  • Epididymis Secretory Protein Li 16 3
  • HEL-S-16 3
  • DDAH1 5

External Ids for DDAH1 Gene

Previous GeneCards Identifiers for DDAH1 Gene

  • GC01M086186
  • GC01M084928
  • GC01M085072
  • GC01M085206
  • GC01M085496
  • GC01M085785
  • GC01M083894

Summaries for DDAH1 Gene

Entrez Gene Summary for DDAH1 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for DDAH1 Gene

DDAH1 (Dimethylarginine Dimethylaminohydrolase 1) is a Protein Coding gene. Diseases associated with DDAH1 include Cardiovascular System Disease and Hypertension, Essential. Among its related pathways are eNOS activation and regulation and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include amino acid binding and dimethylargininase activity. An important paralog of this gene is DDAH2.

UniProtKB/Swiss-Prot Summary for DDAH1 Gene

  • 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.

Tocris Summary for DDAH1 Gene

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DDAH1 Gene

Genomics for DDAH1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DDAH1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DDAH1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DDAH1

Top Transcription factor binding sites by QIAGEN in the DDAH1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • SRF
  • SRF (504 AA)

Genomic Locations for DDAH1 Gene

Genomic Locations for DDAH1 Gene
chr1:85,318,481-85,578,363
(GRCh38/hg38)
Size:
259,883 bases
Orientation:
Minus strand
chr1:85,784,164-86,044,046
(GRCh37/hg19)
Size:
259,883 bases
Orientation:
Minus strand

Genomic View for DDAH1 Gene

Genes around DDAH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDAH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDAH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDAH1 Gene

Proteins for DDAH1 Gene

  • Protein details for DDAH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94760-DDAH1_HUMAN
    Recommended name:
    N(G),N(G)-dimethylarginine dimethylaminohydrolase 1
    Protein Accession:
    O94760
    Secondary Accessions:
    • Q5HYC8
    • Q86XK5

    Protein attributes for DDAH1 Gene

    Size:
    285 amino acids
    Molecular mass:
    31122 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for DDAH1 Gene

    Alternative splice isoforms for DDAH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDAH1 Gene

Selected DME Specific Peptides for DDAH1 Gene

O94760:
  • AANCIYLNIP
  • DVLFTGREFFVGLSK
  • DENATLDG
  • AVSTVPV
  • LHLKSFCSMAGPNLIAIGSSESAQKALKIMQQMSDHRYDK

Post-translational modifications for DDAH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for DDAH1 Gene

Gene Families for DDAH1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DDAH1 Gene

InterPro:
Blocks:
  • Amidinotransferase
ProtoNet:

Suggested Antigen Peptide Sequences for DDAH1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ92778, Homo sapiens dimethylarginine dimethylaminohydrolase 1 (DDAH1), mRNA (B1AKK2_HUMAN)
  • cDNA FLJ54083, highly similar to NG,NG-dimethylarginine dimethylaminohydrolase 1 (EC 3.5.3.18) (B4DGT0_HUMAN)
  • cDNA FLJ54119, highly similar to NG,NG-dimethylarginine dimethylaminohydrolase 1 (EC 3.5.3.18) (B4DYP1_HUMAN)
  • Dimethylargininase-1 (DDAH1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O94760

UniProtKB/Swiss-Prot:

DDAH1_HUMAN :
  • Belongs to the DDAH family.
Family:
  • Belongs to the DDAH family.
genes like me logo Genes that share domains with DDAH1: view

Function for DDAH1 Gene

Molecular function for DDAH1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N(omega),N(omega)-dimethyl-L-arginine = dimethylamine + L-citrulline; Xref=Rhea:RHEA:17305, ChEBI:CHEBI:15377, ChEBI:CHEBI:57743, ChEBI:CHEBI:58040, ChEBI:CHEBI:58326; EC=3.5.3.18; Evidence={ECO:0000269|PubMed:18171027, ECO:0000269|PubMed:19663506};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=69 uM for asymmetric dimethylarginine (ADMA) {ECO:0000269|PubMed:18171027, ECO:0000269|PubMed:19663506}; KM=54 uM for monomethyl-L-arginine (MMA) {ECO:0000269|PubMed:18171027, ECO:0000269|PubMed:19663506}; KM=3.1 uM for S-methyl-L-thiocitrulline {ECO:0000269|PubMed:18171027, ECO:0000269|PubMed:19663506}; Vmax=356 nmol/min/mg enzyme with ADMA {ECO:0000269|PubMed:18171027, ECO:0000269|PubMed:19663506}; Vmax=154 nmol/min/mg enzyme with NMA {ECO:0000269|PubMed:18171027, ECO:0000269|PubMed:19663506}; pH dependence: Optimum pH is 8.5. {ECO:0000269|PubMed:18171027, ECO:0000269|PubMed:19663506};
UniProtKB/Swiss-Prot EnzymeRegulation:
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.
GENATLAS Biochemistry:
N-omega,N-omega dimethylarginine dimethylaminohydrolase 1

Enzyme Numbers (IUBMB) for DDAH1 Gene

Phenotypes From GWAS Catalog for DDAH1 Gene

Gene Ontology (GO) - Molecular Function for DDAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity TAS 9874257
GO:0016403 dimethylargininase activity IBA,IDA 19663506
GO:0016597 amino acid binding IBA 21873635
GO:0016787 hydrolase activity IEA --
GO:0016813 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines IBA 21873635
genes like me logo Genes that share ontologies with DDAH1: view
genes like me logo Genes that share phenotypes with DDAH1: view

Animal Models for DDAH1 Gene

MGI Knock Outs for DDAH1:

Animal Model Products

  • Taconic Biosciences Mouse Models for DDAH1

CRISPR Products

miRNA for DDAH1 Gene

miRTarBase miRNAs that target DDAH1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDAH1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DDAH1 Gene

Localization for DDAH1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DDAH1 gene
Compartment Confidence
cytosol 5
extracellular 4
plasma membrane 3
nucleus 3
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DDAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with DDAH1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DDAH1 Gene

Pathways & Interactions for DDAH1 Gene

genes like me logo Genes that share pathways with DDAH1: view

Pathways by source for DDAH1 Gene

Gene Ontology (GO) - Biological Process for DDAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000052 citrulline metabolic process IBA,IDA 19663506
GO:0003073 regulation of systemic arterial blood pressure ISS --
GO:0006525 arginine metabolic process IBA 21873635
GO:0006527 arginine catabolic process TAS,IDA 24895913
GO:0007263 nitric oxide mediated signal transduction TAS 9874257
genes like me logo Genes that share ontologies with DDAH1: view

No data available for SIGNOR curated interactions for DDAH1 Gene

Drugs & Compounds for DDAH1 Gene

(10) Drugs for DDAH1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citrulline Approved, Investigational Nutra Target 0
Dexlansoprazole Approved, Investigational Pharma Target 255
Esomeprazole Approved, Investigational Pharma Target Proton pump inhibitor 413
Pantoprazole Approved Pharma Target, inhibitor H+/K+-ATPase inhibitor 201
Water Approved Pharma 0

(4) Additional Compounds for DDAH1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
dimethylamine
  • DMA
  • HNMe2
  • Me2nh
  • N,N-Dimethylamine
  • Dimethylamine anhydrous
124-40-3
genes like me logo Genes that share compounds with DDAH1: view

Transcripts for DDAH1 Gene

mRNA/cDNA for DDAH1 Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDAH1

Alternative Splicing Database (ASD) splice patterns (SP) for DDAH1 Gene

No ASD Table

Relevant External Links for DDAH1 Gene

GeneLoc Exon Structure for
DDAH1

Expression for DDAH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DDAH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DDAH1 Gene

This gene is overexpressed in Retina (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DDAH1 Gene



Protein tissue co-expression partners for DDAH1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DDAH1

SOURCE GeneReport for Unigene cluster for DDAH1 Gene:

Hs.713411

mRNA Expression by UniProt/SwissProt for DDAH1 Gene:

O94760-DDAH1_HUMAN
Tissue specificity: Detected in brain, liver, kidney and pancreas, and at low levels in skeletal muscle.

Evidence on tissue expression from TISSUES for DDAH1 Gene

  • Nervous system(4.9)
  • Kidney(4.8)
  • Liver(4.6)
  • Intestine(4.5)
  • Stomach(4.4)
  • Heart(3.2)
  • Muscle(2.9)
  • Blood(2.9)
  • Skin(2.6)
  • Lung(2.5)
  • Pancreas(2.1)
  • Urine(2.1)
genes like me logo Genes that share expression patterns with DDAH1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DDAH1 Gene

Orthologs for DDAH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DDAH1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DDAH1 30 31
  • 99.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DDAH1 30 31
  • 92.05 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DDAH1 30 31
  • 91.46 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ddah1 30 17 31
  • 89.24 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ddah1 30
  • 89.12 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia DDAH1 31
  • 89 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DDAH1 31
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DDAH1 30 31
  • 81.85 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DDAH1 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ddah1 30
  • 71.99 (n)
African clawed frog
(Xenopus laevis)
Amphibia ddah1-prov 30
Zebrafish
(Danio rerio)
Actinopterygii DDAH1 31
  • 77 (a)
OneToOne
zgc:85829 30
  • 67.94 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG1764 30 31 32
  • 49.61 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001644 30
  • 48.51 (n)
Species where no ortholog for DDAH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DDAH1 Gene

ENSEMBL:
Gene Tree for DDAH1 (if available)
TreeFam:
Gene Tree for DDAH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DDAH1: view image

Paralogs for DDAH1 Gene

Paralogs for DDAH1 Gene

(1) SIMAP similar genes for DDAH1 Gene using alignment to 4 proteins:

  • DDAH1_HUMAN
  • B1AKK2_HUMAN
  • B4DGT0_HUMAN
  • B4DYP1_HUMAN
genes like me logo Genes that share paralogs with DDAH1: view

Variants for DDAH1 Gene

Additional dbSNP identifiers (rs#s) for DDAH1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DDAH1 Gene

Variant ID Type Subtype PubMed ID
dgv120n106 CNV duplication 24896259
dgv31e214 CNV loss 21293372
dgv32e214 CNV gain 21293372
esv21828 CNV gain 19812545
esv2440186 CNV deletion 19546169
esv2647869 CNV gain 19546169
esv2663134 CNV deletion 23128226
esv2714296 CNV deletion 23290073
esv2941567 CNV duplication 24192839
esv34165 CNV loss 18971310
esv3577995 CNV loss 25503493
esv3577996 CNV loss 25503493
esv3586681 CNV gain 21293372
nsv1008877 CNV gain 25217958
nsv1075778 CNV duplication 25765185
nsv1128596 CNV duplication 24896259
nsv1142063 CNV tandem duplication 24896259
nsv1153631 CNV duplication 26484159
nsv1766 CNV insertion 18451855
nsv436030 CNV insertion 17901297
nsv441699 CNV loss 18776908
nsv821007 CNV duplication 20802225
nsv823398 CNV loss 20364138
nsv830459 CNV loss 17160897
nsv830470 CNV loss 17160897
nsv946038 CNV duplication 23825009
nsv950202 CNV duplication 24416366
nsv950203 CNV deletion 24416366

Variation tolerance for DDAH1 Gene

Residual Variation Intolerance Score: 60.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.85; 34.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDAH1 Gene

Human Gene Mutation Database (HGMD)
DDAH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDAH1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DDAH1 Gene

Disorders for DDAH1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DDAH1 Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
cardiovascular system disease
  • disease of subdivision of hemolymphoid system
hypertension, essential
  • eht
- elite association - COSMIC cancer census association via MalaCards
Search DDAH1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DDAH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DDAH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DDAH1 Gene

Publications for DDAH1 Gene

  1. Circulating methylarginine levels and the decline in renal function in patients with chronic kidney disease are modulated by DDAH1 polymorphisms. (PMID: 20010544) Caplin B … Leiper JM (Kidney international 2010) 3 23 41
  2. A novel loss-of-function DDAH1 promoter polymorphism is associated with increased susceptibility to thrombosis stroke and coronary heart disease. (PMID: 20167924) Ding H … Wang DW (Circulation research 2010) 3 23 41
  3. Sequence variation in DDAH1 and DDAH2 genes is strongly and additively associated with serum ADMA concentrations in individuals with type 2 diabetes. (PMID: 20209122) Abhary S … Craig JE (PloS one 2010) 3 23 41
  4. Developing dual and specific inhibitors of dimethylarginine dimethylaminohydrolase-1 and nitric oxide synthase: toward a targeted polypharmacology to control nitric oxide. (PMID: 19663506) Wang Y … Fast W (Biochemistry 2009) 3 4 23
  5. Disruption of methylarginine metabolism impairs vascular homeostasis. (PMID: 17273169) Leiper J … Vallance P (Nature medicine 2007) 3 4 23

Products for DDAH1 Gene

  • Signalway ELISA kits for DDAH1
  • Signalway Proteins for DDAH1

Sources for DDAH1 Gene