NMNAT1 - nicotinamide nucleotide adenylyltransferase 1 Gene

Also Known as LCA9; NMNAT; PNAT1; SHILCA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 64802

About NMNAT1

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:9,942,923-9,996,892 (from NCBI)

This gene has 5 transcripts (splice variants), 203 orthologues, 2 paralogues and is associated with 5 phenotypes. Ubiquitous expression in colon (RPKM 3.7), kidney (RPKM 3.0) and 25 other tissues.

Summary

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]

NMNAT1 Products (3)

mRNA	Protein	Name
NM_001297778.1	NP_001284707.1	nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform 1
NM_001297779.2	NP_001284708.1	nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform 2
NM_022787.4	NP_073624.2	nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	21516116	GOA
enables nicotinamide-nucleotide adenylyltransferase activity	IDA IDA: Inferred from direct assay	11027696	GOA
enables nicotinate-nucleotide adenylyltransferase activity	IDA IDA: Inferred from direct assay	16118205	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11248244	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ATP generation from poly-ADP-D-ribose	IDA IDA: Inferred from direct assay	27257257	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	11248244	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NMNAT1 Protein Structure

CTP_transf_like

0
100
200
279 a.a.

Protein Preferred Names	Protein Names
nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1	NMN adenylyltransferase 1

NMNAT1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NMNAT1	Q9HAN9	SIRT1	Homo sapiens	Q96EB6	Anti Bait CoIP	19478080
Intra	NMNAT1	Q9HAN9	SIRT1	Homo sapiens	Q96EB6	Anti Tag CoIP	19478080
Intra	NMNAT1	Q9HAN9	RNF4	Homo sapiens	P78317	Y2H Array	32296183
Intra	NMNAT1	Q9HAN9	RNF4	Homo sapiens	P78317	Y2H Prey Pooling	32296183
Intra	NMNAT1	Q9HAN9	PCYT1A	Homo sapiens	P49585	Anti Tag CoIP	33961781
Intra	NMNAT1	Q9HAN9	PCYT1A	Homo sapiens	P49585	Anti Tag CoIP	28514442
Intra	NMNAT1	Q9HAN9	KPNA2	Homo sapiens	P52292	Y2H Array	31515488
Intra	NMNAT1	Q9HAN9	KPNA2	Homo sapiens	P52292	Y2H Array	25416956
Intra	NMNAT1	Q9HAN9	KPNA2	Homo sapiens	P52292	Y2H Array	32296183
Intra	NMNAT1	Q9HAN9	KPNA2	Homo sapiens	P52292	Y2H Prey Pooling	25416956
Intra	NMNAT1	Q9HAN9	KPNA2	Homo sapiens	P52292	Y2H Prey Pooling	32296183
Intra	NMNAT1	Q9HAN9	KPNA3	Homo sapiens	O00505	Y2H Array	32296183
Intra	NMNAT1	Q9HAN9	KPNA3	Homo sapiens	O00505	Y2H Prey Pooling	32296183
Intra	NMNAT1	Q9HAN9	KPNA1	Homo sapiens	P52294	Y2H Prey Pooling	32296183
Intra	NMNAT1	Q9HAN9	KPNA1	Homo sapiens	P52294	Y2H Array	32296183
Intra	NMNAT1	Q9HAN9	KPNA6	Homo sapiens	O60684	Y2H Prey Pooling	32296183
Intra	NMNAT1	Q9HAN9	KPNA6	Homo sapiens	O60684	Y2H Array	32296183
Intra	NMNAT1	Q9HAN9	NMNAT1	Homo sapiens	Q9HAN9	Y2H Prey Pooling	32296183
Intra	NMNAT1	Q9HAN9	NMNAT1	Homo sapiens	Q9HAN9	Y2H Array	32296183
Intra	NMNAT1	Q9HAN9	NMNAT1	Homo sapiens	Q9HAN9	Y2H	21516116
Intra	NMNAT1	Q9HAN9	NMNAT1	Homo sapiens	Q9HAN9	Y2H Array	31515488
Intra	NMNAT1	Q9HAN9	NMNAT1	Homo sapiens	Q9HAN9	Y2H Array	25502805
Intra	NMNAT1	Q9HAN9	NMNAT1	Homo sapiens	Q9HAN9	Validated Y2H	32296183
Intra	NMNAT1	Q9HAN9	NMNAT1	Homo sapiens	Q9HAN9	Y2H Array	25416956
Intra	NMNAT1	Q9HAN9	CCNC	Homo sapiens	P24863	Y2H Prey Pooling	25416956
Intra	NMNAT1	Q9HAN9	CCNC	Homo sapiens	P24863	Validated Y2H	25416956
Intra	NMNAT1	Q9HAN9	KPNA5	Homo sapiens	O15131	Y2H Array	32296183
Intra	NMNAT1	Q9HAN9	KPNA5	Homo sapiens	O15131	Y2H Prey Pooling	32296183
Intra	NMNAT1	Q9HAN9	GORASP2	Homo sapiens	Q9H8Y8	Y2H Array	32296183
Intra	NMNAT1	Q9HAN9	GORASP2	Homo sapiens	Q9H8Y8	Y2H Prey Pooling	32296183
Intra	NMNAT1	Q9HAN9	PICK1	Homo sapiens	Q9NRD5	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant NMNAT1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75941	NMNAT1 Protein, Human (sf9, His)	Q9HAN9 (M1-T279)	≥ 95%, as determined by reducing SDS-PAGE or Bis-Tris PAGE.

Related Diseases

Diseases	Alias
Leber Congenital Amaurosis 9	LCA9 Leber Congenital Amaurosis, Type 9
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Intellectual Developmental Disorder, And Leber Congenital Amaurosis Shilca Syndrome SHILCA Spondyloepiphyseal Dysplasia-Sensorineural Hearing Loss-Intellectual Disability-Leber Congenital Amaurosis Syndrome
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Wallerian Degeneration	Wallerian Degeneration Of The Pyramidal Tract
Diarrhea	Diarrhoea Diarrhea Of Presumed Infectious Origin
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Pellagra	Niacin Deficiency Niacin-Tryptophan Deficiency Pellagroid Syndrome
Retinal Degeneration	Degeneration Of Retina
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Adult Hepatocellular Carcinoma	Adult Primary Hepatocellular Carcinoma Adult Hepatoma Adult Hcc
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W615108B	β-Nicotinamide mononucleotide, reduced form disodium		99.55%	Unkown
HY-161712	IMPDH-IN-4	Inhibitor	99.76%	Unkown
HY-RS09382	NMNAT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18008	Nmnat1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24481	Nmnat1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	NMNAT1	VGNC	VGNC:63840
Mus musculus	NMNAT1	MGD	MGI:1913704
Macaca mulatta	NMNAT1	VGNC	VGNC:75204
Canis familiaris	NMNAT1	VGNC	VGNC:43862
Bos taurus	NMNAT1	VGNC	VGNC:32132
Rattus norvegicus	NMNAT1	RGD	RGD:1310996
Others	NMNAT1	NCBI