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DDAH1 dimethylarginine dimethylaminohydrolase 1 [ Homo sapiens (human) ]

Gene ID: 23576, updated on 8-Jul-2018
Official Symbol
DDAH1provided by HGNC
Official Full Name
dimethylarginine dimethylaminohydrolase 1provided by HGNC
Primary source
HGNC:HGNC:2715
See related
Ensembl:ENSG00000153904 MIM:604743; Vega:OTTHUMG00000191181
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
See DDAH1 in Genome Data Viewer
Location:
1p22.3
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (85318485..85578363, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (85784168..86044046, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene chromosome 1 open reading frame 52 Neighboring gene uncharacterized LOC646626 Neighboring gene B cell CLL/lymphoma 10 Neighboring gene uncharacterized LOC107985054 Neighboring gene cysteine rich angiogenic inducer 61 Neighboring gene uncharacterized LOC107985057 Neighboring gene uncharacterized LOC112268231

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
NHGRI GWA Catalog
Genome-Wide Association Study of L-Arginine and Dimethylarginines Reveals Novel Metabolic Pathway for Symmetric Dimethylarginine.
NHGRI GWA Catalog
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
NHGRI GWA Catalog
  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of nitric oxide, organism-specific biosystem (from REACTOME)
    Metabolism of nitric oxide, organism-specific biosystemNitric oxide (NO), a multifunctional second messenger, is implicated in physiological functions in mammals that range from immune response and potentiation of synaptic transmission to dilation of blo...
  • eNOS activation, organism-specific biosystem (from REACTOME)
    eNOS activation, organism-specific biosystemeNOS activity is regulated by numerous post-translational modifications including phosphorylation and acylation, which also modulate its interactions with other proteins and its subcellular localizat...
  • eNOS activation and regulation, organism-specific biosystem (from REACTOME)
    eNOS activation and regulation, organism-specific biosystemOriginally identified as endothelium-derived relaxing factor, eNOS derived NO is a critical signaling molecule in vascular homeostasis. It regulates blood pressure and vascular tone, and is involved...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ21264, FLJ25539

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amino acid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amino acid binding IEA
Inferred from Electronic Annotation
more info
 
catalytic activity TAS
Traceable Author Statement
more info
PubMed 
dimethylargininase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dimethylargininase activity IDA
Inferred from Direct Assay
more info
PubMed 
dimethylargininase activity TAS
Traceable Author Statement
more info
 
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
arginine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
arginine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
citrulline metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
citrulline metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cellular response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of vascular permeability IDA
Inferred from Direct Assay
more info
PubMed 
nitric oxide mediated signal transduction TAS
Traceable Author Statement
more info
PubMed 
positive regulation of angiogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of nitric oxide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of nitric oxide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of nitric-oxide synthase activity TAS
Traceable Author Statement
more info
 
regulation of systemic arterial blood pressure ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
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_024301898.1

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_001134445.1NP_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)
    AK304876, AW051386, BX648145
    Consensus CDS
    CCDS44170.1
    UniProtKB/Swiss-Prot
    O94760
    UniProtKB/TrEMBL
    B4E3V1
    Related
    ENSP00000411189.4, ENST00000426972.7
    Conserved Domains (1) summary
    cl19186
    Location:3173
    Amidinotransf; Amidinotransferase
  2. NM_001330655.1NP_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
    Related
    ENSP00000488725.1, ENST00000633113.1
    Conserved Domains (1) summary
    cl19186
    Location:6176
    Amidinotransf; Amidinotransferase
  3. NM_012137.3NP_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
    UniProtKB/TrEMBL
    B1AKK2
    Related
    ENSP00000284031.8, OTTHUMP00000012304, ENST00000284031.12, OTTHUMT00000029189
    Conserved Domains (1) summary
    cl19186
    Location:11276
    Amidinotransf; Amidinotransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    85318485..85578363 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541158.1XP_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
    Conserved Domains (1) summary
    cl19186
    Location:6176
    Amidinotransf; Amidinotransferase
  2. XM_005270707.2XP_005270764.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform X2

    See identical proteins and their annotated locations for XP_005270764.1

    Conserved Domains (1) summary
    cl19186
    Location:11181
    Amidinotransf; Amidinotransferase
  3. XM_024446130.1XP_024301898.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform X4

    Conserved Domains (1) summary
    cl19186
    Location:3173
    Amidinotransf; Amidinotransferase
  4. XM_017000889.1XP_016856378.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform X1

    UniProtKB/TrEMBL
    B4DGT0
    Conserved Domains (1) summary
    cl19186
    Location:13183
    Amidinotransf; Amidinotransferase
  5. XM_005270710.2XP_005270767.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform X4

    See identical proteins and their annotated locations for XP_005270767.1

    UniProtKB/Swiss-Prot
    O94760
    Conserved Domains (1) summary
    cl19186
    Location:3173
    Amidinotransf; Amidinotransferase
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