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DDAH1 dimethylarginine dimethylaminohydrolase 1 [ Homo sapiens (human) ]

Gene ID: 23576, updated on 3-Apr-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
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Genomic context

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Location:
1p22.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (85318485..85578200, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (85159290..85419019, complement)
105.20220307 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
  • 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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Related articles in PubMed

  1. The effect of haptoglobin genotype on the association of asymmetric dimethylarginine and DDAH 1 polymorphism with diabetic macroangiopathy. Wang S, et al. Cardiovasc Diabetol, 2022 Dec 2. PMID 36461077, Free PMC Article
  2. On the kinetic mechanism of dimethylarginine dimethylaminohydrolase. Johnson CM, et al. Bioorg Med Chem, 2022 Jul 15. PMID 35598478
  3. DDAH1 promoter -396 4N insertion variant is associated with increased risk of type 2 diabetes in a gender-dependent manner. Zhu F, et al. Mol Genet Genomic Med, 2020 Jan. PMID 31733101, Free PMC Article
  4. Dimethylarginine Dimethylaminohydrolase 1 Polymorphisms and Venous Intimal Hyperplasia in Hemodialysis Patients. Wu CC, et al. Am J Nephrol, 2019. PMID 31639806
  5. Dimethylarginine dimethylaminohydrolase-1 (DDAH1) is frequently upregulated in prostate cancer, and its overexpression conveys tumor growth and angiogenesis by metabolizing asymmetric dimethylarginine (ADMA). Reddy KRK, et al. Angiogenesis, 2018 Feb. PMID 29150732

See all (110) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. On the kinetic mechanism of dimethylarginine dimethylaminohydrolase.
    Title: On the kinetic mechanism of dimethylarginine dimethylaminohydrolase.
  7. 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.
  8. 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.
  9. 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.
  10. Long non-coding RNA H19 confers resistance to gefitinib via miR-148b-3p/DDAH1 axis in lung adenocarcinoma.
    Title: Long non-coding RNA H19 confers resistance to gefitinib via miR-148b-3p/DDAH1 axis in lung adenocarcinoma.
Submit: New GeneRIF Correction See all GeneRIFs (68)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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_2023_10

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

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