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NMNAT1

This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]
Full Name
Nicotinamide Nucleotide Adenylyltransferase 1
Function
Catalyzes the formation of NAD+ from nicotinamide mononucleotide (NMN) and ATP (PubMed:17402747).
Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency (PubMed:17402747).
Can use triazofurin monophosphate (TrMP) as substrate (PubMed:17402747).
Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD+ (PubMed:17402747).
For the pyrophosphorolytic activity, prefers NAD+ and NaAD as substrates and degrades NADH, nicotinic acid adenine dinucleotide phosphate (NHD) and nicotinamide guanine dinucleotide (NGD) less effectively (PubMed:17402747).
Involved in the synthesis of ATP in the nucleus, together with PARP1, PARG and NUDT5 (PubMed:27257257).
Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming (PubMed:27257257).
Fails to cleave phosphorylated dinucleotides NADP+, NADPH and NaADP+ (PubMed:17402747).
Protects against axonal degeneration following mechanical or toxic insults (By similarity).
Biological Process
ATP generation from poly-ADP-D-riboseManual Assertion Based On ExperimentIDA:UniProtKB
NAD biosynthetic processManual Assertion Based On ExperimentIBA:GO_Central
Negative regulation of neuron deathIEA:Ensembl
Nucleotide biosynthetic process1 PublicationIC:UniProtKB
Response to woundingIEA:Ensembl
Cellular Location
Nucleus
Involvement in disease
Leber congenital amaurosis 9 (LCA9):
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis (SHILCA):
An autosomal recessive disorder characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature due to spondyloepiphyseal dysplasia, and motor and intellectual delay. Brain imaging shows abnormalities including delayed myelination, leukoencephalopathy, and cerebellar hypoplasia.

Anti-NMNAT1 antibodies

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Target: NMNAT1
Host: Mouse
Specificity: Human
Clone: CBWJN-0540
Application*: WB
Target: NMNAT1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 1G4
Application*: WB, F, IH, P
Target: NMNAT1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 1F7
Application*: WB, IF
Target: NMNAT1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBWJN-1453
Application*: IH
Target: NMNAT1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: AT4A2
Application*: E, WB
Target: NMNAT1
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: 4A2
Application*: WB, F, E
Target: NMNAT1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBWJN-0319
Application*: DB, IC, WB
Target: NMNAT1
Host: Mouse
Specificity: Human
Clone: CBWJN-0266
Application*: E, WB
Target: NMNAT1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 2642C5a
Application*: DB, WB
Target: NMNAT1
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: A1377
Application*: Dot blot, ELISA, WB
Target: NMNAT1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: D7O4N
Application*: WB, IP
More Infomation
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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