NADSYN1 (NAD synthetase 1)

2014-11-01  

Identity

HGNC
NADSYN1
LOCATION
11q13.4
LOCUSID
55191
ALIAS
VCRL3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55191
MIM: 608285
HGNC: 29832
Ensembl: ENSG00000172890

Variants:

dbSNP: 55191
ClinVar: 55191
TCGA: ENSG00000172890
COSMIC: NADSYN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172890ENST00000319023Q6IA69
ENSG00000172890ENST00000525200H0YCQ6
ENSG00000172890ENST00000525593H0YDH3
ENSG00000172890ENST00000527852H0YCF9
ENSG00000172890ENST00000527963H0YED2
ENSG00000172890ENST00000528509E9PKY6
ENSG00000172890ENST00000529120E9PND0
ENSG00000172890ENST00000529840E9PNF5
ENSG00000172890ENST00000530055A0A0B4J216

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Nicotinate and nicotinamide metabolismKEGGko00760
Nicotinate and nicotinamide metabolismKEGGhsa00760
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Nicotinate metabolismREACTOMER-HSA-196807

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383579312024A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.0
383579312024A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.0
369512062023Clinical heterogeneity of NADSYN1-associated VCRL syndrome.4
369512062023Clinical heterogeneity of NADSYN1-associated VCRL syndrome.4
329382882022Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical features of Parkinson's disease.2
354919672022Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.5
329382882022Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical features of Parkinson's disease.2
354919672022Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.5
346810082021Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations.6
346810082021Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations.6
318836442020Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.18
319116022020Different ways to transport ammonia in human and Mycobacterium tuberculosis NAD(+) synthetases.5
318836442020Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.18
319116022020Different ways to transport ammonia in human and Mycobacterium tuberculosis NAD(+) synthetases.5
261491202015Vitamin D Deficiency in Uygurs and Kazaks Is Associated with Polymorphisms in CYP2R1 and DHCR7/NADSYN1 Genes.17

Citation

Dessen P

NADSYN1 (NAD synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70670/nadsyn1-(nad-synthetase-1)