Format

Send to:

Choose Destination

DDAH1 dimethylarginine dimethylaminohydrolase 1 [ Homo sapiens (human) ]

Gene ID: 23576, updated on 1-Jun-2020

Summary

Official Symbol
DDAH1provided by HGNC
Official Full Name
dimethylarginine dimethylaminohydrolase 1provided by HGNC
Primary source
HGNC:HGNC:2715
See related
Ensembl:ENSG00000153904 MIM:604743
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

Genomic context

See DDAH1 in Genome Data Viewer
Location:
1p22.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (85318485..85578274, 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 BCL10 immune signaling adaptor Neighboring gene uncharacterized LOC107985054 Neighboring gene uncharacterized LOC107985057 Neighboring gene uncharacterized LOC112268231 Neighboring gene cellular communication network factor 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
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 
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 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001134445.2NP_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/Swiss-Prot
    O94760
    UniProtKB/TrEMBL
    B4E3V1
    Related
    ENSP00000439045.1, ENST00000535924.6
    Conserved Domains (1) summary
    cl19186
    Location:3173
    Amidinotransf; Amidinotransferase
  2. NM_001330655.2NP_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_012137.4NP_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, ENST00000284031.13
    Conserved Domains (1) summary
    cl19186
    Location:11276
    Amidinotransf; Amidinotransferase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    85318485..85578274 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
Support Center