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FLASH GENE

Symbol

NMNAT1

contributors: mct - updated : 05-10-2016

HGNC name	nicotinamide nucleotide adenylyltransferase 1
HGNC id	17877

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LCA9 Leber congenital amaurosis, type 9
Location	1p36.22      Physical location : 10.003.485 - 10.045.555
Synonym name	pyridine nucleotide adenylyltransferase 1
	NMN adenylyl transferase, nicotinamide mononucleotide adenylyl transferase
	NaMN adenylyltransferase 1
	pyridine nucleotide adenylyltransferase 1
Synonym symbol(s)	NMNAT, PNAT1, PNAT-1
EC.number	2.7.7.1, 2.7.7.18

DNA

TYPE	functioning gene
STRUCTURE	53.82 kb     5 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_022787 5 - 3781 NP_073624 - 279 - 2003 12574164 NM_001297778 5 - 3796 NP_001284707 - 279 - 2003 12574164 NM_001297779 5 - 1100 NP_001284708 - 160 - 2003 12574164

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive intestine large intestine colon       liver         Endocrine pancreas         Nervous brain         Reproductive female system placenta       Urinary kidney       highly Visual eye lens         eye retina       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining retinal pigment epithelium (RPE)     Muscular striatum skeletal   highly

cells

System Cell Pubmed Species Stage Rna symbol Respiratory epithelial cell

cell lineage
cell lines	cancer cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	cytidylyl transferase domain
	one KRAB domain

conjugated

PhosphoP

mono polymer

homomer , hexamer

HOMOLOGY

interspecies	homolog to murine Nmat1 (82.4pc)
	homolog to rattus Nmat1 (82.7pc)

Homologene

FAMILY

NMN adenylyltransferase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm

basic FUNCTION	having nucleotidyltransferase activity
	catalysing the transfer of the adenylyl group from ATP to NMN (or NaMN) to form NAD (or NaAD) (Zhang 2003)
	also catalyzes the pyrophospholytic cleavage of NAD(+)
	protects against axonal degeneration following mechanical or toxic insult
	NMNAT1, NMNAT2, NMNAT3 catalyzes the formation of nicotinamide adenine dinucleotide
	enzymatic activities of NMNAT1 and PARP1 is linked to the regulation of a set of common target genes through functional interactions at target gene promoters
	NMNAT1 protects retinal ganglion cells against high glucose-induced injury via MAPK14 signaling pathway

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

cofactor

signaling

NAD(+) metabolism

a component

INTERACTION

DNA

RNA

small molecule	metal binding, cofactor, nucleotide,
	cofactor divalent metal cations, Zn2+, Mg2+
	AMP binding

protein	interacting with ADPRT
	binding to activated, automodifying PARP1 and thereby amplifies poly(ADP-ribosyl)ation (Berger 2007)
	PARP1 recruits NMNAT1 to promoters where it produces NAD(+) to support PARP1 catalytic activity, but also enhances the enzymatic activity of PARP1 independently of NAD(+) production
	NMNAT1 interacts with the nucleolar repressor protein RRP8 and is involved in regulating rRNA transcription
	NMNAT1 expression stimulates the deacetylase function of SIRT1

cell & other

REGULATION

induced by

by DNA damage and NMNAT1 plays a role in preventing cell death after damage

inhibited by

galotannin and NAP4AD

Other

phosphorylated by PKC

ASSOCIATED DISORDERS

corresponding disease(s)

LCA9

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   has been shown to be neuroprotective against axonal injury in the peripheral nervous system constitutional     --over   can delay axon degeneration

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed diabete     may serve as a neuroprotective target for diabetes mellitus-related retinal neuropathy

ANIMAL & CELL MODELS

	gain-of-function mutations in the mouse Nmnat1
	produce two remarkable phenotypes: protection against traumatic axonal degeneration and reduced hypoxic brain injury