NADSYN1 NAD synthetase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NADSYN1provided by HGNC
Official Full Name: NAD synthetase 1provided by HGNC
Primary source: HGNC:HGNC:29832
See related: Ensembl:ENSG00000172890 MIM:608285; AllianceGenome:HGNC:29832
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: VCRL3
Summary: Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).[supplied by OMIM, Apr 2004]
Expression: Ubiquitous expression in bone marrow (RPKM 25.3), duodenum (RPKM 20.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.4

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (71453203..71501816)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (71380158..71428792)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (71164249..71212862)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Title: A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Clinical heterogeneity of NADSYN1-associated VCRL syndrome.
Title: Clinical heterogeneity of NADSYN1-associated VCRL syndrome.
Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.
Title: Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.
Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical features of Parkinson's disease.
Title: Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical features of Parkinson's disease.
Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations.
Title: Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations.
Homo sapiens NAD(+) synthetase (hsNadE) lacks substrate specificity for glutamine over ammonia.
Title: Different ways to transport ammonia in human and Mycobacterium tuberculosis NAD(+) synthetases.
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
Title: Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
Polymorphisms in CYP2R1-rs10766197 and DHCR7/NADSYN1-rs12785878 are associated with vitamin D deficiency in Uygur and Kazak ethnic populations
Title: Vitamin D Deficiency in Uygurs and Kazaks Is Associated with Polymorphisms in CYP2R1 and DHCR7/NADSYN1 Genes.
NADSYN1/DHCR7 locus (rs12785878 and rs1790349) polymorphisms have an effect on plasma 25-hydroxyvitamin D levels and coronary artery disease incidence
Title: Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on plasma 25-hydroxyvitamin D levels and coronary artery disease incidence.
Data indicate that SNPs in the DHCR7/NADSYN1 locus showed evidence of positive association with rheumatoid arthritis (RA).
Title: Enrichment of vitamin D response elements in RA-associated loci supports a role for vitamin D in the pathogenesis of RA.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

Associated conditions

Description	Tests
Vertebral, cardiac, renal, and limb defects syndrome 3 MedGen: C5394250 OMIM: 618845 GeneReviews: Congenital NAD Deficiency Disorder	Compare labs

EBI GWAS Catalog

Description
Common genetic determinants of vitamin D insufficiency: a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of circulating vitamin D levels. 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

RH71154 (e-PCR)
- UniSTS:78245

SHGC-83836 (e-PCR)
- UniSTS:101815

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables NAD+ synthase (glutamine-hydrolyzing) activity	IBA Inferred from Biological aspect of Ancestor more info
enables NAD+ synthase (glutamine-hydrolyzing) activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables glutaminase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in 'de novo' NAD biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in NAD biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: glutamine-dependent NAD(+) synthetase

Names: NAD(+) synthase; NAD(+) synthetase; glutamine-dependent NAD synthetase

NP_060631.2

EC 6.3.5.1

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)

NM_018161.5 → NP_060631.2 glutamine-dependent NAD(+) synthetase

See identical proteins and their annotated locations for NP_060631.2

Status: VALIDATED

Source sequence(s)

AK022436, AP000867, AW804480, BC020977, BE730392, BI460954, BM554316

Consensus CDS

CCDS8201.1

UniProtKB/Swiss-Prot

B3KUU4, Q6IA69, Q86SN2, Q9HA25, Q9NVM8

Related

ENSP00000326424.2, ENST00000319023.7

Conserved Domains (3) summary

cd07570
Location:6 → 298

GAT_Gln-NAD-synth; Glutamine aminotransferase (GAT, glutaminase) domain of glutamine-dependent NAD synthetases (class 7 and 8 nitrilases)

PLN02339
Location:3 → 699

PLN02339; NAD+ synthase (glutamine-hydrolysing)

cd00553
Location:327 → 650

NAD_synthase; NAD+ synthase is a homodimer, which catalyzes the final step in de novo nicotinamide adenine dinucleotide (NAD+) biosynthesis, an amide transfer from either ammonia or glutamine to nicotinic acid adenine dinucleotide (NaAD). The conversion of NaAD to NAD ...