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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DDAH1 Gene

protein-coding   GIFtS: 64
GCID: GC01M085785

Dimethylarginine Dimethylaminohydrolase 1

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Dimethylarginine Dimethylaminohydrolase 11 2 3     dimethylargininase-12
DDAH2 3     N(G),N(G)-Dimethylarginine Dimethylaminohydrolase 12
DDAH-12 3     NG, NG-Dimethylarginine Dimethylaminohydrolase2
DDAHI2 3     Dimethylargininase-13
EC 3.5.3.183 8     

External Ids:    HGNC: 27151   Entrez Gene: 235762   Ensembl: ENSG000001539047   OMIM: 6047435   UniProtKB: O947603   

Export aliases for DDAH1 gene to outside databases

Previous GC identifers: GC01M086186 GC01M084928 GC01M085072 GC01M085206 GC01M085496 GC01M083894


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 hyperhomocysteinemia, and idiopathic pulmonary fibrosis. GO annotations related to this gene include dimethylargininase activity and catalytic activity. An important paralog of this gene is DDAH2.

UniProtKB/Swiss-Prot: DDAH1_HUMAN, O94760
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DDAH1 gene promoter:
         E2F-4   E2F-3a   SRF   E2F-5   E2F-1   E2F   SRF (504 AA)   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DDAH1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DDAH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DDAH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p22   Ensembl cytogenetic band:  1p22.3   HGNC cytogenetic band: 1p22

DDAH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DDAH1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M085785:  view genomic region     (about GC identifiers)

Start:
85,784,164 bp from pter      End:
86,044,046 bp from pter
Size:
259,883 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DDAH1_HUMAN, O94760 (See protein sequence)
Recommended Name: N(G),N(G)-dimethylarginine dimethylaminohydrolase 1  
Size: 285 amino acids; 31122 Da
Subunit: Monomer
6 PDB 3D structures from and Proteopedia for DDAH1:
2JAI (3D)        2JAJ (3D)        3I2E (3D)        3I4A (3D)        3P8E (3D)        3P8P (3D)    
Secondary accessions: Q5HYC8 Q86XK5
Alternative splicing: 2 isoforms:  O94760-1   O94760-2   

Explore the universe of human proteins at neXtProt for DDAH1: NX_O94760

Explore proteomics data for DDAH1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O94760

  • 4/5 DME Specific Peptides for DDAH1 (O94760) (see all 5)
     AVSTVPV  DENATLDG  AANCIYLNIP  DVLFTGREFFVGLSK 

    DDAH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DDAH1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001127917.1  NP_036269.1  

    ENSEMBL proteins: 
     ENSP00000439045   ENSP00000284031   ENSP00000438604   ENSP00000411189   ENSP00000438202  

    Human Recombinant Protein Products for DDAH1: 
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    ProSpec Recombinant Protein for DDAH1
    Cloud-Clone Corp. Proteins for DDAH1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IEA--

    DDAH1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: NG,NG-Dimethylarginine dimethylaminohydrolase 1 
    Dimethylarginine dimethylaminohydrolases

    1 InterPro protein domain:
     IPR003198 Amidino_trans

    Graphical View of Domain Structure for InterPro Entry O94760

    ProtoNet protein and cluster: O94760

    1 Blocks protein domain: IPB003198 Amidinotransferase

    UniProtKB/Swiss-Prot: DDAH1_HUMAN, O94760
    Similarity: Belongs to the DDAH family


    DDAH1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DDAH1_HUMAN, O94760
    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;

         Genatlas biochemistry entry for DDAH1:
    N-omega,N-omega dimethylarginine dimethylaminohydrolase 1

         Enzyme Number (IUBMB): EC 3.5.3.181 2

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity TAS9874257
    GO:0016403dimethylargininase activity IDA19663506
    GO:0016597amino acid binding IEA--
    GO:0016813hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines ----
    GO:0046872metal ion binding IEA--
         
    DDAH1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for DDAH1:
     Increased gamma-H2AX phosphory  Synthetic lethal with imatinib 

         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ddah1):
     cardiovascular system  homeostasis/metabolism  mortality/aging  muscle 

    DDAH1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for DDAH1: Ddah1tm1Pval Ddah1tm1.1Yjch

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DDAH1 
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    hsa-miR-21* hsa-miR-3164 hsa-miR-330-5p hsa-miR-548k hsa-miR-513a-5p hsa-miR-128 hsa-miR-30d hsa-miR-219-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDAH1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DDAH1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/8 Interacting proteins for DDAH1 (O947603 ENSP000002840314) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    RPS6KA1Q154183I2D: score=2 
    DLG4P783523I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000052citrulline metabolic process IDA19663506
    GO:0003073regulation of systemic arterial blood pressure ISS--
    GO:0006525arginine metabolic process ----
    GO:0006527arginine catabolic process TAS9874257
    GO:0007263nitric oxide mediated signal transduction TAS9874257

    DDAH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DDAH1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DDAH1

    1 HMDB Compound for DDAH1    About this table
    CompoundSynonyms CAS #PubMed Ids
    DimethylamineDimethylamine (see all 10)124-40-3--

    1 DrugBank Compound for DDAH1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Citrulline2-Amino-5-uredovaleric acid (see all 8)372-75-8target--10950934 12615801 14766200

    9 Novoseek inferred chemical compound relationships for DDAH1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adma 95.1 96 20209122 (6), 19331593 (4), 19820234 (4), 20219849 (4) (see all 33)
    n(g),n(g)-dimethylarginine 87.9 5 7608105 (1), 15292099 (1), 15865451 (1)
    dimethylamine 83.5 6 17400039 (2), 19331593 (1), 15465797 (1), 17011246 (1) (see all 5)
    nitric oxide 71.2 34 20219849 (4), 16920729 (2), 19663506 (2), 15865451 (2) (see all 18)
    citrulline 68.4 6 19331593 (1), 19820234 (1), 17400039 (1), 12615801 (1) (see all 6)
    l-nmma 65.5 6 12941821 (1), 17273169 (1), 11811522 (1)
    arginine 60 10 15325021 (1), 20167924 (1), 18171027 (1), 19013076 (1) (see all 5)
    2,4-dichlorophenoxyacetic acid 55.8 2 14553822 (1)
    oxygen 0 3 15256062 (1), 18171027 (1)

    Search CenterWatch for drugs/clinical trials and news about DDAH1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DDAH1 gene (2 alternative transcripts): 
    NM_001134445.1  NM_012137.3  

    Unigene Cluster for DDAH1:

    Dimethylarginine dimethylaminohydrolase 1
    Hs.713411  [show with all ESTs]
    Unigene Representative Sequence: NM_001134445
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000535924(uc001dlc.3) ENST00000284031(uc001dlb.3) ENST00000483110(uc010osb.2 uc009wco.3)
    ENST00000488557 ENST00000498304 ENST00000467530 ENST00000472448 ENST00000467666
    ENST00000539042 ENST00000426972 ENST00000542148
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8/38 QIAGEN miScript miRNA Assays for microRNAs that regulate DDAH1 (see all 38):
    hsa-miR-21* hsa-miR-3164 hsa-miR-330-5p hsa-miR-548k hsa-miR-513a-5p hsa-miR-128 hsa-miR-30d hsa-miR-219-5p
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    Additional mRNA sequence: 

    AK024917.1 AK024926.1 AK026093.1 AK055626.1 AK098405.1 AK294752.1 AK302531.1 AK304876.1 
    AK309225.1 AK312432.1 BC033680.1 BC036432.2 BC043235.2 BX648145.1 

    11 DOTS entries:

    DT.443074  DT.99932765  DT.100060510  DT.110088  DT.303572  DT.438141  DT.121403946  DT.121403874 
    DT.121403899  DT.40276748  DT.92410304 

    24/249 AceView cDNA sequences (see all 249):

    F01543 AI022958 BX107654 CA414398 BU679894 Z40676 AA454088 AI885718 
    AA235788 AI024638 CK823288 AI281073 AV722412 BM971417 BC033680 BU732812 
    AW196691 AI650308 AI150719 T32836 BM893634 AW235630 BU741697 BM985268 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DDAH1 expression in normal human tissues (normalized intensities)      DDAH1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATACCAATC
    DDAH1 Expression
    About this image


    DDAH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
             brain/forebrain/telencephalon   
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Telencephalon
             spinal cord/lateral wall/ventricular layer   
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Line H7 (WA07)
     
     Spinal Cord (Nervous System)
             spinal cord/lateral wall/ventricular layer   
     
     Kidney (Urinary System)
             Presumptive Podocytes Podocyte Layer

    See DDAH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DDAH1

    SOURCE GeneReport for Unigene cluster: Hs.713411

    UniProtKB/Swiss-Prot: DDAH1_HUMAN, O94760
    Tissue specificity: Detected in brain, liver, kidney and pancreas, and at low levels in skeletal muscle

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDAH1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DDAH1 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ddah11 , 5 dimethylarginine dimethylaminohydrolase 11, 5 89.24(n)1
    93.68(a)1
      3 (70.63 cM)5
    692191  NM_026993.31  NP_081269.11 
     1457586755 
    chicken
    (Gallus gallus)
    Aves DDAH11 dimethylarginine dimethylaminohydrolase 1 81.85(n)
    87.19(a)
      378898  NM_204382.1  NP_989713.1 
    lizard
    (Anolis carolinensis)
    Reptilia DDAH16
    Uncharacterized protein
    81(a)
    1 ↔ 1
    GL343194.1(10322420-10402441)
    African clawed frog
    (Xenopus laevis)
    Amphibia ddah1-prov2 dimethylarginine dimethylaminohydrolase 1 77.98(n)    BC056074.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:858291 zgc:85829 67.94(n)
    72.9(a)
      406561  NM_213276.1  NP_998441.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG17641 , 3 dimethylargininase3
    CG17641
    38(a)3
    49.74(n)1
    41.67(a)1
      11E93
    322811  NM_132643.21  NP_572871.11 


    ENSEMBL Gene Tree for DDAH1 (if available)
    TreeFam Gene Tree for DDAH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DDAH1 gene
    DDAH22  
    1 SIMAP similar gene for DDAH1 using alignment to 4 protein entries:     DDAH1_HUMAN (see all proteins):
    DDAH2

    DDAH1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4880 SNPs in DDAH1 are shown (see all 4880)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs352796621,2
    C--84003660(+) AAAAA-/A/AAAA
            
    GTGGG
    2 -- int11NA 2
    rs576779541,2
    C--84095566(+) TTTTT-/T/TT  
            
    GAGAC
    1 -- int11NA 2
    rs1883621501,2
    --85783739(+) CATTTA/TAAAAA 2 -- ds50010--------
    rs121386211,2
    C,F,H--85783970(+) TTAAGT/CGCCTG 2 -- ds500119Minor allele frequency- C:0.12NS EA NA CSA WA 2344
    rs780978211,2
    C,F--85784101(+) GACAGC/AAAAGA 2 -- ds50011Minor allele frequency- A:0.01WA 118
    rs1489133291,2
    --85784166(+) CTGTTC/GATCAC 2 -- ds50010--------
    rs1160898401,2
    C,F--85784200(+) ATTGTG/CATTGG 2 -- ut311Minor allele frequency- C:0.03WA 118
    rs1926484541,2
    --85784212(+) ATACAG/TGTAAG 2 -- ut310--------
    rs1845303621,2
    --85784219(+) TAAGAC/TTGAGA 2 -- ut310--------
    rs1435946391,2
    --85784314(+) TAACCA/GTACAT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for DDAH1 (85784164 - 86034164 bp, first 250kb of DDAH1)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for DDAH1 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2714296CNV Deletion23290073
    esv2663134CNV Deletion23128226
    esv2440186CNV Deletion19546169
    nsv821007CNV Duplication20802225
    nsv1766CNV Insertion18451855
    nsv436030CNV Insertion17901297
    nsv830470CNV Loss17160897
    nsv830459CNV Loss17160897
    esv34165CNV Loss18971310
    nsv823398CNV Loss20364138


    Human Gene Mutation Database (HGMD): DDAH1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DDAH1
    DNA2.0 Custom Variant and Variant Library Synthesis for DDAH1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604743    OMIM disorders: --

    20/22 diseases for DDAH1 (see all 22):    About MalaCards
    hyperhomocysteinemia    idiopathic pulmonary fibrosis    pulmonary fibrosis    congestive heart failure
    eclampsia    pre-eclampsia    thrombosis    infertility
    kidney disease    hypertension    liver disease    endotheliitis
    type 1 diabetes    atherosclerosis    multiple sclerosis    hypoxia
    cerebritis    schizophrenia    alzheimer's disease    prostate cancer


    DDAH1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    5 Novoseek inferred disease relationships for DDAH1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cardiovascular diseases 49 2 17881609 (1), 16444868 (1)
    atherosclerosis 34.9 2 19331593 (1), 17881609 (1)
    glioma 6.53 8 12941821 (3), 15256062 (2)
    tumors 4.37 8 15256062 (2), 12941821 (2)
    shock 0 2 17273169 (1), 15292099 (1)

    Genetic Association Database (GAD): DDAH1
    Human Genome Epidemiology (HuGE) Navigator: DDAH1 (13 documents)

    Export disorders for DDAH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DDAH1 gene, integrated from 9 sources (see all 96):
    (articles sorted by number of sources associating them with DDAH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Purification, cDNA cloning and expression of human NG,NG- dimethylarginine dimethylaminohydrolase. (PubMed id 9874257)1, 2, 3 Kimoto M.... Tsuji H. (1998)
    2. A novel loss-of-function DDAH1 promoter polymorphism is associated with increased susceptibility to thrombosis stroke and coronary h eart disease. (PubMed id 20167924)1, 4, 9 Ding H....Wang D.W. (2010)
    3. Sequence variation in DDAH1 and DDAH2 genes is strong ly and additively associated with serum ADMA concentrations in individuals with type 2 diabetes. (PubMed id 20209122)1, 4, 9 Abhary S....Craig J.E. (2010)
    4. Haplotypic association of DDAH1 with susceptibility to pre-eclampsia. (PubMed id 15501905)1, 4, 9 Akbar F....Salonen J.T. (2005)
    5. Circulating methylarginine levels and the decline in renal function in patients with chronic kidney disease are modulated by DDAH1 p olymorphisms. (PubMed id 20010544)1, 4, 9 Caplin B....Leiper J.M. (2010)
    6. Chromosomal localization, gene structure, and expression pattern of DDAH1: comparison with DDAH2 and implications for evolutionary origins. (PubMed id 10950934)1, 7, 9 Tran C.T....Leiper J.M. (2000)
    7. Developing dual and specific inhibitors of dimethylar ginine dimethylaminohydrolase-1 and nitric oxide synthase: toward a targeted po lypharmacology to control nitric oxide. (PubMed id 19663506)1, 2, 9 Wang Y....Fast W. (2009)
    8. Disruption of methylarginine metabolism impairs vascular homeostasis. (PubMed id 17273169)1, 2, 9 Leiper J....Vallance P. (2007)
    9. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23576 HGNC: 2715 AceView: DDAH1 Ensembl:ENSG00000153904 euGenes: HUgn23576
    ECgene: DDAH1 H-InvDB: DDAH1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DDAH1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DDAH1 gene:
    Search GeneIP for patents involving DDAH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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