DDAH1 dimethylarginine dimethylaminohydrolase 1 [Homo sapiens (human)] - Gene

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; 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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
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.
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.
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.
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.
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.
On the kinetic mechanism of dimethylarginine dimethylaminohydrolase.
Title: On the kinetic mechanism of dimethylarginine dimethylaminohydrolase.
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.
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.
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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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 EBI GWAS CatalogPubMed
Genome-Wide Association Study of L-Arginine and Dimethylarginines Reveals Novel Metabolic Pathway for Symmetric Dimethylarginine. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-154514 (e-PCR)
- UniSTS:182025

RH93291 (e-PCR)
- UniSTS:89369

G32430 (e-PCR)
- UniSTS:117017

D1S2519 (e-PCR)
- UniSTS:154142

SHGC-31693 (e-PCR)
- UniSTS:75554

D1S3471 (e-PCR)
- UniSTS:52776

D1S1172 (e-PCR)
- UniSTS:3115

RH120565 (e-PCR)
- UniSTS:132398

RH25273 (e-PCR)
- UniSTS:49204

G62602 (e-PCR)
- UniSTS:139582

AL009580 (e-PCR)
- UniSTS:40769

RH119591 (e-PCR)
- UniSTS:132674

RH93034 (e-PCR)
- UniSTS:87629

A009C44 (e-PCR)
- UniSTS:26449

SHGC-132432 (e-PCR)
- UniSTS:170838

SHGC-31729 (e-PCR)
- UniSTS:71019

G63037 (e-PCR)
- UniSTS:140162

G59003 (e-PCR)
- UniSTS:136327

RH66527 (e-PCR)
- UniSTS:63373

RH124035 (e-PCR)
- UniSTS:134548

D1S2449 (e-PCR)
- UniSTS:4511

SHGC-75085 (e-PCR)
- UniSTS:82857

G63256 (e-PCR)
- UniSTS:140225

SHGC-33805 (e-PCR)
- UniSTS:22978

SHGC-142641 (e-PCR)
- UniSTS:181966

SHGC-2550 (e-PCR)
- UniSTS:49644

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 more info	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

EC 3.5.3.18

NP_001317584.1

EC 3.5.3.18

NP_036269.1

EC 3.5.3.18

XP_005270764.1

EC 3.5.3.18

XP_005270767.1

EC 3.5.3.18

XP_011539460.1

EC 3.5.3.18

XP_016856378.1

EC 3.5.3.18

XP_047272586.1

EC 3.5.3.18

XP_054191694.1

EC 3.5.3.18

XP_054191695.1

EC 3.5.3.18

XP_054191696.1

EC 3.5.3.18

XP_054191697.1

EC 3.5.3.18

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)

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
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
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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

85318485..85578200 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B4DYP1
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

NC_060925.1 Alternate T2T-CHM13v2.0

Range

85159290..85419019 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054335720.1 → XP_054191695.1 N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform X2
XM_054335721.1 → XP_054191696.1 N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform X3

UniProtKB/TrEMBL

B4DYP1
XM_054335719.1 → XP_054191694.1 N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform X1

UniProtKB/TrEMBL

B4DGT0
XM_054335722.1 → XP_054191697.1 N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform X3

UniProtKB/TrEMBL

B4DYP1