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    DDAH1 dimethylarginine dimethylaminohydrolase 1 [ Homo sapiens (human) ]

    Gene ID: 23576, updated on 3-Nov-2024

    Summary

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    Official Symbol
    DDAH1provided by HGNC
    Official Full Name
    dimethylarginine dimethylaminohydrolase 1provided by HGNC
    Primary source
    HGNC:HGNC:2715
    See related
    Ensembl:ENSG00000153904 MIM:604743; AllianceGenome:HGNC:2715
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DDAH; DDAHI; DDAH-1; HEL-S-16
    Summary
    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]
    Expression
    Broad expression in kidney (RPKM 34.4), brain (RPKM 28.2) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DDAH1 in Genome Data Viewer
    Location:
    1p22.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (85318485..85578200, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (85159290..85419019, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (85784168..86043883, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1267 Neighboring gene chromosome 1 open reading frame 52 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:85741508-85742707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1269 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:85754924-85756123 Neighboring gene BCL10 antisense RNA 1 Neighboring gene BCL10 immune signaling adaptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:85773869-85774369 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:85790493-85791014 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_9272 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:85794423-85795001 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:85859729-85860506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1034 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1035 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:85960912-85962111 Neighboring gene uncharacterized LOC124904208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1270 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:86046012-86046534 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1039 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1041 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:86047581-86048102 Neighboring gene small nucleolar RNA SNORD81 Neighboring gene cellular communication network factor 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular Dynamics-Ensemble Docking and Biophysical Studies for Structure-Based Identification of Non-Amino Acidic Ligands of DDAH-1.
      Title: Molecular Dynamics-Ensemble Docking and Biophysical Studies for Structure-Based Identification of Non-Amino Acidic Ligands of DDAH-1.
    2. Dimethylarginine Dimethylaminohydrolase - 1 expression is increased under tBHP-induced oxidative stress regulates nitric oxide production in PCa cells attenuates mitochondrial ROS-mediated apoptosis.
      Title: Dimethylarginine Dimethylaminohydrolase - 1 expression is increased under tBHP-induced oxidative stress regulates nitric oxide production in PCa cells attenuates mitochondrial ROS-mediated apoptosis.
    3. Genome-wide admixture and association analysis identifies African ancestry-specific risk loci of eosinophilic esophagitis in African Americans.
      Title: Genome-wide admixture and association analysis identifies African ancestry-specific risk loci of eosinophilic esophagitis in African Americans.
    4. LncRNA DANCR deficiency promotes high glucose-induced endothelial to mesenchymal transition in cardiac microvascular cells via the FoxO1/DDAH1/ADMA signaling pathway.
      Title: LncRNA DANCR deficiency promotes high glucose-induced endothelial to mesenchymal transition in cardiac microvascular cells via the FoxO1/DDAH1/ADMA signaling pathway.
    5. The effect of haptoglobin genotype on the association of asymmetric dimethylarginine and DDAH 1 polymorphism with diabetic macroangiopathy.
      Title: The effect of haptoglobin genotype on the association of asymmetric dimethylarginine and DDAH 1 polymorphism with diabetic macroangiopathy.
    6. Assessment of DDAH1 and DDAH2 Contributions to Psychiatric Disorders via In Silico Methods.
      Title: Assessment of DDAH1 and DDAH2 Contributions to Psychiatric Disorders via In Silico Methods.
    7. On the kinetic mechanism of dimethylarginine dimethylaminohydrolase.
      Title: On the kinetic mechanism of dimethylarginine dimethylaminohydrolase.
    8. Abnormalities of the PRMT1-ADMA-DDAH1 metabolism axis and probucol treatment in diabetic patients and diabetic rats.
      Title: Abnormalities of the PRMT1-ADMA-DDAH1 metabolism axis and probucol treatment in diabetic patients and diabetic rats.
    9. DDAH1 promoter -396 4N insertion variant is associated with increased risk of type 2 diabetes in a gender-dependent manner.
      Title: DDAH1 promoter -396 4N insertion variant is associated with increased risk of type 2 diabetes in a gender-dependent manner.
    10. Serum asymmetric-dimethylarginine, apelin and NT-pro BNP levels in dialysis patients.
      Title: Serum asymmetric-dimethylarginine, apelin and NT-pro BNP levels in dialysis patients.
    Submit: New GeneRIF Correction See all GeneRIFs (69)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    EBI GWAS Catalog
    Genome-Wide Association Study of L-Arginine and Dimethylarginines Reveals Novel Metabolic Pathway for Symmetric Dimethylarginine.
    EBI GWAS Catalog
    Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21264, FLJ25539

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables amino acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables catalytic activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables dimethylargininase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dimethylargininase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables dimethylargininase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables dimethylargininase activity TAS
    Traceable Author Statement
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in arginine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in arginine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in citrulline metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in citrulline metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cellular response to hypoxia IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of vascular permeability IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nitric oxide mediated signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in nitric oxide metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in positive regulation of angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of nitric oxide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of nitric oxide biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of systemic arterial blood pressure ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    N(G),N(G)-dimethylarginine dimethylaminohydrolase 1
    Names
    NG, NG-dimethylarginine dimethylaminohydrolase
    dimethylargininase-1
    epididymis secretory protein Li 16
    NP_001127917.1
    NP_001317584.1
    NP_036269.1
    XP_005270764.1
    XP_005270767.1
    XP_011539460.1
    XP_016856378.1
    XP_047272586.1
    XP_054191694.1
    XP_054191695.1
    XP_054191696.1
    XP_054191697.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001134445.2 → NP_001127917.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform 2

      See identical proteins and their annotated locations for NP_001127917.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AW051386, BX648145
      Consensus CDS
      CCDS44170.1
      UniProtKB/TrEMBL
      B4E3V1
      Related
      ENSP00000411189.4, ENST00000426972.8
      Conserved Domains (1) summary
      cl19186
      Location:3 → 173
      Amidinotransf; Amidinotransferase

    2. NM_001330655.2 → NP_001317584.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AL078459, AL360219, KF454970
      Consensus CDS
      CCDS81348.1
      UniProtKB/TrEMBL
      B4DYP1, B4E3V1
      Related
      ENSP00000488725.1, ENST00000633113.1
      Conserved Domains (1) summary
      cl19186
      Location:6 → 176
      Amidinotransf; Amidinotransferase

    3. NM_012137.4 → NP_036269.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform 1

      See identical proteins and their annotated locations for NP_036269.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK312432, AW051386, BX648145, DC324361
      Consensus CDS
      CCDS705.1
      UniProtKB/Swiss-Prot
      O94760, Q5HYC8, Q86XK5
      UniProtKB/TrEMBL
      A1NXE2, B1AKK2, B2R644
      Related
      ENSP00000284031.8, ENST00000284031.13
      Conserved Domains (1) summary
      cl19186
      Location:11 → 276
      Amidinotransf; Amidinotransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      85318485..85578200 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270707.3 → XP_005270764.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform X2

      See identical proteins and their annotated locations for XP_005270764.1

      UniProtKB/TrEMBL
      B4E3V1
      Conserved Domains (1) summary
      cl19186
      Location:11 → 181
      Amidinotransf; Amidinotransferase

    2. XM_011541158.2 → XP_011539460.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform X3

      See identical proteins and their annotated locations for XP_011539460.1

      UniProtKB/TrEMBL
      B4DYP1, B4E3V1
      Conserved Domains (1) summary
      cl19186
      Location:6 → 176
      Amidinotransf; Amidinotransferase

    3. XM_017000889.2 → XP_016856378.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform X1

      UniProtKB/TrEMBL
      B4DGT0, B4E3V1
      Conserved Domains (1) summary
      cl19186
      Location:13 → 183
      Amidinotransf; Amidinotransferase

    4. XM_047416630.1 → XP_047272586.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform X3

      UniProtKB/TrEMBL
      B4DYP1

    5. XM_005270710.3 → XP_005270767.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform X4

      See identical proteins and their annotated locations for XP_005270767.1

      UniProtKB/TrEMBL
      B4E3V1
      Conserved Domains (1) summary
      cl19186
      Location:3 → 173
      Amidinotransf; Amidinotransferase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      85159290..85419019 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335720.1 → XP_054191695.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform X2

    2. XM_054335721.1 → XP_054191696.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform X3

      UniProtKB/TrEMBL
      B4DYP1

    3. XM_054335719.1 → XP_054191694.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform X1

      UniProtKB/TrEMBL
      B4DGT0

    4. XM_054335722.1 → XP_054191697.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform X3

      UniProtKB/TrEMBL
      B4DYP1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O94760.3 GenPept UniProtKB/Swiss-Prot:O94760

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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