NMNAT1 - nicotinamide nucleotide adenylyltransferase 1 Gene

Homo sapiens

Also known as LCA9; NMNAT; PNAT1; SHILCA

Gene ID: 64802 | Gene type: protein coding

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

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

Recombinant NMNAT1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75941	NMNAT1 Protein, Human (sf9, His)	Q9HAN9 (M1-T279)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09382	NMNAT1 Human Pre-designed siRNA Set A		/	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

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