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FLASH GENE

Symbol

NMNAT3

contributors: SGE/npt - updated : 05-10-2016

HGNC name	nicotinamide nucleotide adenylyltransferase 3
HGNC id	20989

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_178177 5 - 1886 NP_835471 - 215 - 2005 16118205 NM_001200047 4 - 1808 NP_001186976 - 163 - 2005 16118205 NM_001320511 7 - 2128 NP_001307440 - 252 - 2005 16118205 NM_001320512 6 - 2094 NP_001307441 - 252 - 2005 16118205 NM_001320510 7 - 2376 NP_001307439 - 346 - 2005 16118205 NM_001320513 7 - 2506 NP_001307442 - 142 - 2005 16118205

EXPRESSION

Type	restricted

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 Lymphoid/Immune spleen

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erythrocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a catalytic domain
	a DTW motif

mono polymer

homomer , tetramer

HOMOLOGY

interspecies

homolog to murine Nmnat3 (81.3pc)

Homologene

FAMILY

eukaryotic NMN adenylyltransferase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,cytosolic
text	NMNAT3 is localized to the mitochondria
	localized in the cytoplasm of mature erythrocytes and critically regulated their NAD pool

basic FUNCTION	central enzyme in NAD biosynthesis, catalyzing the condensation of NMN or NaMN with the AMP moiety of ATP to form NAD or NaAD
	can use GTP or ITP as nucleotide donors
	also catalyzing the reverse reaction, i.E pyrophosphorolytic cleavage of Nad+
	protecting against axonal degeneration following injury
	NMNAT1, NMNAT2, NMNAT3 catalyzes the formation of nicotinamide adenine dinucleotide
	axonal-protective effect of NMNAT3 may be involved in autophagy machinery, and that modulation of NMNAT3 and autophagy may lead to potential strategies against degenerative optic nerve disease
	is postulated to be a mitochondrial enzyme contributing to NAD-dependent organelle functioning
	critical roles of NMNAT3 in maintenance of the NAD pool in mature erythrocytes
	is dispensable in the maintenance of mitochondrial NAD levels, and that other NAD regulatory pathways may exist in mitochondria
	regulates the activity of SIRT3 via synthesis of mitochondria NAD

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

cofactor

signaling

NAD biosynthesis

a component

INTERACTION

DNA

RNA

small molecule	metal binding, nucleotide,
	ATP, GTP, ITP
	binding divalent metal cations

protein

NMNAT3, the rate-limiting enzyme for mitochondrial NAD biosynthesis, is a new target and binding partner of SIRT3

cell & other

REGULATION

inhibited by

galotannin, Nap4AD

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   can delay axon degeneration

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

deficiency of Nmnat3 in mice caused splenomegaly and hemolytic anemia, which was associated with the findings that Nmnat3-deficient erythrocytes had markedly lower ATP levels and shortened lifespans