2. Gene
  3. NMNAT1 - nicotinamide nucleotide adenylyltransferase 1 Gene

NMNAT1 - nicotinamide nucleotide adenylyltransferase 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference Source
involved in ATP generation from poly-ADP-D-ribose IDA
IDA: Inferred from direct assay
27257257 GOA
Cellular Component GO Annotation Evidence Reference 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

CTP_transf_like: Cytidylyltransferase-like (12 - 229)

  • 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 Reference
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%

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 (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-161712 Nampt-IN-12 99.76% Unkown
HY-RS09382 NMNAT1 Human Pre-designed siRNA Set A Pre-designed Sets / 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