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Aliases for NMNAT1 Gene

Aliases for NMNAT1 Gene

  • Nicotinamide Nucleotide Adenylyltransferase 1 2 3 5
  • Nicotinate-Nucleotide Adenylyltransferase 1 3 4
  • NMN/NaMN Adenylyltransferase 1 3 4
  • NaMN Adenylyltransferase 1 3 4
  • NMN Adenylyltransferase 1 3 4
  • NMNAT 3 4
  • Nicotinamide/Nicotinic Acid Mononucleotide Adenylyltransferase 1 3
  • Nicotinamide Mononucleotide Adenylyltransferase 1 3
  • Nicotinamide-Nucleotide Adenylyltransferase 1 4
  • Nicotinamide Nucleotide Adenylyltransferase 2
  • Pyridine Nucleotide Adenylyltransferase 1 3
  • Lebers Congenital Amaurosis 9 2
  • Leber Congenital Amaurosis 9 2
  • EC 2.7.7.18 4
  • EC 2.7.7.1 4
  • PNAT1 3
  • LCA9 3

External Ids for NMNAT1 Gene

Previous HGNC Symbols for NMNAT1 Gene

  • LCA9

Previous GeneCards Identifiers for NMNAT1 Gene

  • GC01P009612
  • GC01P009713
  • GC01P009938
  • GC01P010003
  • GC01P009158

Summaries for NMNAT1 Gene

Entrez Gene Summary for NMNAT1 Gene

  • 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]

GeneCards Summary for NMNAT1 Gene

NMNAT1 (Nicotinamide Nucleotide Adenylyltransferase 1) is a Protein Coding gene. Diseases associated with NMNAT1 include Leber Congenital Amaurosis 9 and Leber Congenital Amaurosis. Among its related pathways are NAD metabolism and superpathway of tryptophan utilization. GO annotations related to this gene include nucleotidyltransferase activity and nicotinamide-nucleotide adenylyltransferase activity. An important paralog of this gene is NMNAT3.

UniProtKB/Swiss-Prot for NMNAT1 Gene

  • 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).

Gene Wiki entry for NMNAT1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NMNAT1 Gene

Genomics for NMNAT1 Gene

Regulatory Elements for NMNAT1 Gene

Enhancers for NMNAT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G010507 2.6 Ensembl ENCODE dbSUPER 10.5 +569.8 569821 11.1 HDGF PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 ARID4B SIN3A FEZF1 ZNF2 PGD NMNAT1 PEX14 ENSG00000271989 RBP7 GC01P010513 DFFA
GH01G010063 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +122.6 122586 4.8 HDGF FOXA2 PKNOX1 RAD21 YY1 ZNF121 GATA2 EGR1 FOS PCBP1 LZIC UBE4B RN7SKP269 NMNAT1 ENSG00000228150 ENSG00000223989 CTNNBIP1 RNU6-828P KIF1B PGAM1P11
GH01G009881 1.4 ENCODE dbSUPER 11.2 -60.5 -60547 1.7 HDGF HNRNPUL1 PKNOX1 CREB3L1 ARNT MLX ZFP64 ARID4B SIN3A FEZF1 CTNNBIP1 ENSG00000223989 ENSG00000228150 LZIC RN7SKP269 NMNAT1 RBP7 PIR35071
GH01G010073 1.3 Ensembl ENCODE dbSUPER 10.8 +131.6 131589 2.2 CBX3 SIN3A ZNF121 SCRT2 FOS CREM JUNB ZNF589 SMARCA4 IKZF1 UBE4B RN7SKP269 ENSG00000228150 LZIC NMNAT1 RNU6-37P CENPS CTNNBIP1 PGAM1P11 RNU6-828P
GH01G009786 1.1 Ensembl ENCODE 10.7 -155.5 -155450 1.7 PKNOX1 ZNF335 GLIS2 RELB ETV6 IKZF2 CREM JUNB GATAD2B TBX21 CLSTN1 ENSG00000223989 CTNNBIP1 NMNAT1 RN7SKP269 LZIC ENSG00000228150 MZT1P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NMNAT1 on UCSC Golden Path with GeneCards custom track

Promoters for NMNAT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000001217 377 2201 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3

Genomic Location for NMNAT1 Gene

Chromosome:
1
Start:
9,942,923 bp from pter
End:
9,985,501 bp from pter
Size:
42,579 bases
Orientation:
Plus strand

Genomic View for NMNAT1 Gene

Genes around NMNAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NMNAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NMNAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NMNAT1 Gene

Proteins for NMNAT1 Gene

  • Protein details for NMNAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HAN9-NMNA1_HUMAN
    Recommended name:
    Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1
    Protein Accession:
    Q9HAN9
    Secondary Accessions:
    • B1AN63
    • Q8TAE9
    • Q9H247
    • Q9H6B6

    Protein attributes for NMNAT1 Gene

    Size:
    279 amino acids
    Molecular mass:
    31932 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homohexamer. Interacts with ADPRT/PARP1.

    Three dimensional structures from OCA and Proteopedia for NMNAT1 Gene

neXtProt entry for NMNAT1 Gene

Post-translational modifications for NMNAT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NMNAT1 (NMNAT1)
  • Abcam antibodies for NMNAT1
  • Santa Cruz Biotechnology (SCBT) Antibodies for NMNAT1

No data available for DME Specific Peptides for NMNAT1 Gene

Domains & Families for NMNAT1 Gene

Protein Domains for NMNAT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HAN9

UniProtKB/Swiss-Prot:

NMNA1_HUMAN :
  • Belongs to the eukaryotic NMN adenylyltransferase family.
Family:
  • Belongs to the eukaryotic NMN adenylyltransferase family.
genes like me logo Genes that share domains with NMNAT1: view

No data available for Gene Families for NMNAT1 Gene

Function for NMNAT1 Gene

Molecular function for NMNAT1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=34 uM for NMN {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; KM=40 uM for ATP {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; KM=937 uM for PPi {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; KM=59 uM for NAD(+) {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; Vmax=25 umol/min/mg enzyme for NAD synthesis {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; Vmax=60.5 umol/min/ug enzyme for NAD(+) cleavage {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; Vmax=8.5 umol/min/ug enzyme for NADH cleavage {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + nicotinamide ribonucleotide = diphosphate + NAD(+).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + beta-nicotinate-D-ribonucleotide = diphosphate + deamido-NAD(+).
UniProtKB/Swiss-Prot EnzymeRegulation:
Activity is strongly inhibited by galotannin. Inhibited by P1-(adenosine-5)-P4-(nicotinic-acid-riboside-5)-tetraphosphate (Nap4AD).
UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for NMNAT1 Gene

Gene Ontology (GO) - Molecular Function for NMNAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000309 nicotinamide-nucleotide adenylyltransferase activity IDA 11027696
GO:0003824 catalytic activity IEA --
GO:0004515 nicotinate-nucleotide adenylyltransferase activity TAS --
GO:0005515 protein binding IPI 11248244
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with NMNAT1: view
genes like me logo Genes that share phenotypes with NMNAT1: view

Human Phenotype Ontology for NMNAT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NMNAT1 Gene

MGI Knock Outs for NMNAT1:

Animal Model Products

  • Taconic Biosciences Mouse Models for NMNAT1

CRISPR Products

miRNA for NMNAT1 Gene

miRTarBase miRNAs that target NMNAT1

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for NMNAT1 Gene

Localization for NMNAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NMNAT1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NMNAT1 gene
Compartment Confidence
nucleus 5
mitochondrion 2
cytosol 2
plasma membrane 1
extracellular 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NMNAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 11248244
GO:0005654 nucleoplasm TAS --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with NMNAT1: view

Pathways & Interactions for NMNAT1 Gene

genes like me logo Genes that share pathways with NMNAT1: view

Pathways by source for NMNAT1 Gene

UniProtKB/Swiss-Prot Q9HAN9-NMNA1_HUMAN

  • Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; deamido-NAD(+) from nicotinate D-ribonucleotide: step 1/1.
  • Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; NAD(+) from nicotinamide D-ribonucleotide: step 1/1.

Gene Ontology (GO) - Biological Process for NMNAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009058 biosynthetic process IEA --
GO:0009435 NAD biosynthetic process IC 16118205
GO:0009611 response to wounding IEA --
GO:0019363 pyridine nucleotide biosynthetic process IEA --
GO:0019674 NAD metabolic process TAS --
genes like me logo Genes that share ontologies with NMNAT1: view

No data available for SIGNOR curated interactions for NMNAT1 Gene

Drugs & Compounds for NMNAT1 Gene

(12) Drugs for NMNAT1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
nicotinamide mononucleotide Experimental Pharma Target 0
Deamido-Nad+ Experimental Pharma Target 0
NAD Pharma Full agonist, Agonist 0

(10) Additional Compounds for NMNAT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
beta-nicotinamide D-ribonucleotide
Nicotinamide ribotide
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-b-D-ribofuranosyl)-Pyridinium hydroxide inner salt
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-b-D-ribofuranosyl)-Pyridinium inner salt
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-beta-delta-ribofuranosyl)-Pyridinium hydroxide inner salt
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-beta-delta-ribofuranosyl)-Pyridinium inner salt
  • 3-Carbamoyl-1-b-D-ribofuranosylpyridinium hydroxide 5'-phosphate inner salt
1094-61-7
nicotinate beta-D-ribonucleotide
Nicotinic acid adenine dinucleotide
  • Deamido-NAD+
  • Deamidonicotinamide adenine dinucleoetide
  • Deamino-nad+
  • NAAD
  • NaADN
6450-77-7
Nicotinic acid mononucleotide
  • 3-Carboxy-1-(5-O-phosphono-b-D-ribofuranosyl)-Pyridinium inner salt
  • 3-Carboxy-1-(5-O-phosphono-beta-D-ribofuranosyl)-Pyridinium inner salt
  • 3-Carboxy-1-(5-O-phosphono-beta-delta-ribofuranosyl)-Pyridinium inner salt
  • 3-Carboxy-1-beta-D-ribofuranosylpyridinium hydroxide 5'-phosphate inner salt
  • 3-Carboxy-1-beta-delta-ribofuranosylpyridinium hydroxide 5'-phosphate inner salt
321-02-8
genes like me logo Genes that share compounds with NMNAT1: view

Transcripts for NMNAT1 Gene

Unigene Clusters for NMNAT1 Gene

Nicotinamide nucleotide adenylyltransferase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NMNAT1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b
SP1: -
SP2:
SP3: - -

Relevant External Links for NMNAT1 Gene

GeneLoc Exon Structure for
NMNAT1
ECgene alternative splicing isoforms for
NMNAT1

Expression for NMNAT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NMNAT1 Gene

Protein differential expression in normal tissues from HIPED for NMNAT1 Gene

This gene is overexpressed in Lung (13.2) and Testis (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NMNAT1 Gene



Protein tissue co-expression partners for NMNAT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of NMNAT1 Gene:

NMNAT1

SOURCE GeneReport for Unigene cluster for NMNAT1 Gene:

Hs.633762

mRNA Expression by UniProt/SwissProt for NMNAT1 Gene:

Q9HAN9-NMNA1_HUMAN
Tissue specificity: Widely expressed with highest levels in skeletal muscle, heart and kidney. Also expressed in the liver pancreas and placenta. Widely expressed throughout the brain.

Evidence on tissue expression from TISSUES for NMNAT1 Gene

  • Eye(4.4)
  • Liver(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NMNAT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • olfactory bulb
  • skull
Abdomen:
  • liver
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with NMNAT1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NMNAT1 Gene

Orthologs for NMNAT1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NMNAT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NMNAT1 34 35
  • 99.86 (n)
cow
(Bos Taurus)
Mammalia NMNAT1 34 35
  • 87.29 (n)
dog
(Canis familiaris)
Mammalia NMNAT1 34 35
  • 86.33 (n)
mouse
(Mus musculus)
Mammalia Nmnat1 34 16 35
  • 81.89 (n)
rat
(Rattus norvegicus)
Mammalia Nmnat1 34
  • 80.94 (n)
oppossum
(Monodelphis domestica)
Mammalia NMNAT1 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NMNAT1 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves NMNAT1 35 34
  • 69.78 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nmnat1 34
  • 62.38 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15722 34
zebrafish
(Danio rerio)
Actinopterygii nmnat1 35
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Nmnat 35
  • 29 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NMA2 34 35 37
  • 51.93 (n)
NMA1 35
  • 26 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C18051g 34
  • 51 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR022C 34
  • 50.64 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC806.06c 34
  • 49.33 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
ManyToMany
Species where no ortholog for NMNAT1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NMNAT1 Gene

ENSEMBL:
Gene Tree for NMNAT1 (if available)
TreeFam:
Gene Tree for NMNAT1 (if available)

Paralogs for NMNAT1 Gene

Paralogs for NMNAT1 Gene

(2) SIMAP similar genes for NMNAT1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with NMNAT1: view

Variants for NMNAT1 Gene

Sequence variations from dbSNP and Humsavar for NMNAT1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs138613460 Uncertain significance, Leber congenital amaurosis 9 (LCA9) [MIM:608553] 9,972,110(+) TCCTT(A/G)CTTGT reference, missense
rs142968179 Pathogenic, Leber congenital amaurosis 9 (LCA9) [MIM:608553] 9,982,480(+) AACAC(C/T)GGAGC intron-variant, reference, missense
rs150726175 Pathogenic, Leber congenital amaurosis 9 (LCA9) [MIM:608553] 9,982,630(+) GCTCT(A/G)AGAGT intron-variant, reference, missense
rs368062092 Pathogenic, Leber congenital amaurosis 9 (LCA9) [MIM:608553] 9,982,571(+) CATTC(A/G/T)CTACT intron-variant, reference, missense
rs372066126 Leber congenital amaurosis 9 (LCA9) [MIM:608553] 9,975,681(+) TCATC(A/G)TGGCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NMNAT1 Gene

Variant ID Type Subtype PubMed ID
nsv1001742 CNV gain 25217958

Variation tolerance for NMNAT1 Gene

Residual Variation Intolerance Score: 39.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.06; 21.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NMNAT1 Gene

Human Gene Mutation Database (HGMD)
NMNAT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NMNAT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NMNAT1 Gene

Disorders for NMNAT1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NMNAT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leber congenital amaurosis 9
  • lca9
leber congenital amaurosis
  • lca
nmnat1-related leber congenital amaurosis
  • lca9 leber congenital amaurosis
wallerian degeneration
  • wallerian degeneration of the pyramidal tract
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NMNA1_HUMAN
  • Leber congenital amaurosis 9 (LCA9) [MIM:608553]: 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. {ECO:0000269 PubMed:22842227, ECO:0000269 PubMed:22842229, ECO:0000269 PubMed:22842230, ECO:0000269 PubMed:22842231}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NMNAT1

Genetic Association Database (GAD)
NMNAT1
Human Genome Epidemiology (HuGE) Navigator
NMNAT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NMNAT1
genes like me logo Genes that share disorders with NMNAT1: view

No data available for Genatlas for NMNAT1 Gene

Publications for NMNAT1 Gene

  1. Molecular cloning, chromosomal localization, tissue mRNA levels, bacterial expression, and enzymatic properties of human NMN adenylyltransferase. (PMID: 11027696) Emanuelli M. … Magni G. (J. Biol. Chem. 2001) 2 3 4 22 64
  2. Characterization of recombinant human nicotinamide mononucleotide adenylyl transferase (NMNAT), a nuclear enzyme essential for NAD synthesis. (PMID: 11248244) Schweiger M. … Ziegler M. (FEBS Lett. 2001) 2 3 4 22 64
  3. NMNAT1 mutations cause Leber congenital amaurosis. (PMID: 22842227) Falk M.J. … Pierce E.A. (Nat. Genet. 2012) 2 3 4 64
  4. Initial-rate kinetics of human NMN-adenylyltransferases: substrate and metal ion specificity, inhibition by products and multisubstrate analogues, and isozyme contributions to NAD+ biosynthesis. (PMID: 17402747) Sorci L. … Magni G. (Biochemistry 2007) 3 4 22 64
  5. Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms. (PMID: 16118205) Berger F. … Ziegler M. (J. Biol. Chem. 2005) 3 4 22 64

Products for NMNAT1 Gene

Sources for NMNAT1 Gene

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