Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DDAH1 Gene

Aliases for DDAH1 Gene

  • Dimethylarginine Dimethylaminohydrolase 1 2 3 4 5
  • Dimethylargininase-1 3 4
  • EC 3.5.3.18 4 61
  • DDAH-1 3 4
  • DDAHI 3 4
  • DDAH 3 4
  • N(G),N(G)-Dimethylarginine Dimethylaminohydrolase 1 3
  • NG, NG-Dimethylarginine Dimethylaminohydrolase 3
  • Epididymis Secretory Protein Li 16 3
  • HEL-S-16 3

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 Diffuse Intrinsic Pontine Glioma. Among its related pathways are Metabolism and eNOS activation and regulation. GO annotations related to this gene include amino acid binding and dimethylargininase activity. An important paralog of this gene is DDAH2.

UniProtKB/Swiss-Prot 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 Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDAH1 Gene

Genomics for DDAH1 Gene

Regulatory Elements for DDAH1 Gene

Enhancers for DDAH1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F085313 1.3 FANTOM5 Ensembl ENCODE 27.9 +263.2 263188 4.0 JUN MAX SIN3A RAD21 RFX5 ZBTB48 SCRT2 SMC3 RCOR1 FOS DDAH1 CYR61 BCL10 GC01P085392
GH01F085337 1.2 Ensembl ENCODE 27.8 +236.6 236631 7.9 INSM2 ARID4B FEZF1 ZNF48 ZNF2 RAD21 ZEB1 ZNF366 FOS EGR2 DDAH1 CYR61 BCL10 GC01P085392
GH01F085459 1 ENCODE 29.7 +115.4 115433 7.1 ARID4B SIN3A FEZF1 DMAP1 ZNF48 YY1 ZNF121 GLIS2 SP3 YY2 DDAH1 CYR61 ENSG00000273264 GC01M085455
GH01F085325 1.7 FANTOM5 Ensembl ENCODE 17 +249.1 249118 8.1 PKNOX1 ATF1 MLX ARID4B SIN3A DMAP1 ZNF48 SLC30A9 FOS SP5 C1orf52 DDAH1 CYR61 BCL10 GC01P085392
GH01F085296 1.3 Ensembl ENCODE 20.9 +280.1 280069 3.1 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 KLF7 FOS ZNF263 JUNB DDAH1 BCL10 LOC646626 RPF1 CYR61 GC01P085392
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DDAH1 on UCSC Golden Path with GeneCards custom track

Promoters for DDAH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001747019 763 2801 ATF1 ZNF133 SIN3A FEZF1 GLI4 ZNF48 ZNF2 ZNF121 GLIS2 ELK1

Genomic Location for DDAH1 Gene

Chromosome:
1
Start:
85,318,481 bp from pter
End:
85,578,363 bp from pter
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

Antibody Products

  • R&D Systems Antibodies for DDAH1 (Dimethylarginine Dimethylaminohydrolase 1/DDAH1)
  • Cloud-Clone Corp. Antibodies for DDAH1

Domains & Families for DDAH1 Gene

Protein Domains for DDAH1 Gene

InterPro:
Blocks:
ProtoNet:

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

GENATLAS Biochemistry:
N-omega,N-omega dimethylarginine dimethylaminohydrolase 1
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 CatalyticActivity:
N(omega),N(omega)-dimethyl-L-arginine + H(2)O = dimethylamine + L-citrulline.
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.
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.

Enzyme Numbers (IUBMB) 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 IEA,TAS --
GO:0016597 amino acid binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
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

miRNA for DDAH1 Gene

miRTarBase miRNAs that target DDAH1

Inhibitory RNA Products

Flow Cytometry Products

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
extracellular 5
cytosol 5
mitochondrion 3
nucleus 3
plasma membrane 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for DDAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 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 IDA 19663506
GO:0003073 regulation of systemic arterial blood pressure ISS --
GO:0006525 arginine metabolic process IEA --
GO:0006527 arginine catabolic process IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citrulline Approved Nutra Full agonist, Agonist, Target 0
Water Approved Pharma 0
N,N-dimethylarginine Experimental Pharma 17

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
dimethylamine
  • Dimethylamine
  • Dimethylamine anhydrous
  • Dimethylamine anhydrous (dot)
  • Dimethylamine aqueous solution
  • Dimethylamine hydrobromide
124-40-3
genes like me logo Genes that share compounds with DDAH1: view

Transcripts for DDAH1 Gene

Unigene Clusters for DDAH1 Gene

Dimethylarginine dimethylaminohydrolase 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for DDAH1 Gene

GeneLoc Exon Structure for
DDAH1
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for DDAH1 Gene



Protein tissue co-expression partners for DDAH1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DDAH1 Gene:

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.
genes like me logo Genes that share expression patterns with DDAH1: view

Primer Products

No data available for mRNA differential expression in normal tissues 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 34 35
  • 99.77 (n)
dog
(Canis familiaris)
Mammalia DDAH1 34 35
  • 92.05 (n)
cow
(Bos Taurus)
Mammalia DDAH1 34 35
  • 91.46 (n)
mouse
(Mus musculus)
Mammalia Ddah1 34 16 35
  • 89.24 (n)
rat
(Rattus norvegicus)
Mammalia Ddah1 34
  • 89.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DDAH1 35
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DDAH1 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves DDAH1 34 35
  • 81.85 (n)
lizard
(Anolis carolinensis)
Reptilia DDAH1 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddah1 34
  • 71.99 (n)
African clawed frog
(Xenopus laevis)
Amphibia ddah1-prov 34
zebrafish
(Danio rerio)
Actinopterygii DDAH1 35
  • 77 (a)
OneToOne
zgc:85829 34
  • 67.94 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1764 36 34 35
  • 49.61 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001644 34
  • 48.51 (n)
Species where no ortholog for DDAH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for DDAH1 Gene

Paralogs for DDAH1 Gene

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

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

Variants for DDAH1 Gene

Sequence variations from dbSNP and Humsavar for DDAH1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1001276 -- 85,524,799(+) AAGCA(C/T)GCAGT intron-variant
rs1001277 -- 85,525,139(+) GCTGA(C/T)GTAGA intron-variant
rs1001278 -- 85,525,177(+) TTTAT(C/T)GAATT intron-variant
rs1001604 -- 85,413,841(+) AGTAA(C/G)TGAAT intron-variant
rs1006988 -- 85,417,637(+) TTTCT(C/G)TTTAT intron-variant

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

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

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)

Relevant External Links for DDAH1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDAH1 Gene

Disorders for DDAH1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DDAH1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
diffuse intrinsic pontine glioma
  • dipg
- elite association - COSMIC cancer census association via MalaCards
Search DDAH1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DDAH1

Genetic Association Database (GAD)
DDAH1
Human Genome Epidemiology (HuGE) Navigator
DDAH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DDAH1
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 J.M. (Kidney Int. 2010) 3 22 46 64
  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 D.W. (Circ. Res. 2010) 3 22 46 64
  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 J.E. (PLoS ONE 2010) 3 22 46 64
  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 22 64
  5. Disruption of methylarginine metabolism impairs vascular homeostasis. (PMID: 17273169) Leiper J. … Vallance P. (Nat. Med. 2007) 3 4 22 64

Products for DDAH1 Gene

  • Cloud-Clone Corp. Antibodies for DDAH1
  • Cloud-Clone Corp. Proteins for DDAH1
  • Cloud-Clone Corp Assay Kits for DDAH1

Sources for DDAH1 Gene

Content
Loading form....