NMNAT1 Gene
protein-coding GIFtS: 65
GCID: GC01P010003
|
|
nicotinamide nucleotide adenylyltransferase 1(Previous name: nicotinamide nucleotide adenylyltransferase )
| |
Aliases
for NMNAT1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Nicotinamide Nucleotide Adenylyltransferase 11 2 | | Nicotinamide Nucleotide Adenylyltransferase1 | | NMNAT1 2 3 | | LCA92 | | PNAT11 2 | | Nicotinamide Mononucleotide Adenylyltransferase 12 | | Nicotinate-Nucleotide Adenylyltransferase 12 3 | | Pyridine Nucleotide Adenylyltransferase 12 | | NaMN Adenylyltransferase 12 3 | | EC 2.7.7.13 | | NMN Adenylyltransferase 12 3 | | EC 2.7.7.183 |
Export aliases for NMNAT1 gene to outside databasesPrevious GC identifers: GC01P009612 GC01P009713 GC01P009938 GC01P009158 |
Summaries
for NMNAT1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for NMNAT1:
This gene encodes an enzyme which catalyzes a key step in the biosynthesis of the coenzyme NAD. The encoded protein isone of several nicotinamide nucleotide adenylyltransferases. Studies in Drosophila and mammalian neurons have shownthe encoded protein can confer protection to damaged neurons. This protection requires enzymatic activity whichincreases NAD levels and activates a nuclear deacetylase which is the protective molecule. Pseudogenes of this geneare located on chromosomes 1, 3, 4, 14 and 15. (provided by RefSeq, Dec 2011)
UniProtKB/Swiss-Prot: NMNA1_HUMAN, Q9HAN9Function: Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidatedform; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate(TrMP) as substrate. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For thepyrophosphorolytic activity, prefers NAD(+) and NAAD as substrates and degrades NADH, nicotinic acid adeninedinucleotide phosphate (NHD) and nicotinamide guanine dinucleotide (NGD) less effectively. Fails to cleavephosphorylated dinucleotides NADP(+), NADPH and NAADP(+). Protects against axonal degeneration following mechanical ortoxic insults
Gene Wiki entry for NMNAT1
|
Genomic Views
for NMNAT1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_021937.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the NMNAT1 gene promoter:
HOXA9B HOXA9 GR Sox5 ISGF-3 POU6F1 (c2) CREB GR-alpha Meis-1a Meis-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for NMNAT1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NMNAT1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p36.22 Ensembl cytogenetic band: 1p36.22 HGNC cytogenetic band: 1p36.22NMNAT1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P010003: view genomic region
(about GC identifiers)
Start:
|
10,003,486 bp from pter |
End:
|
10,045,559 bp from pter |
Size:
|
42,074 bases |
Orientation:
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plus strand |
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Proteins
for NMNAT1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: NMNA1_HUMAN, Q9HAN9 (See
protein sequence)Recommended Name: Nicotinamide mononucleotide adenylyltransferase 1 Size: 279 amino acids; 31932 Da
Cofactor: Divalent metal cations. Zinc confers higher activity as compared to magnesium
Subunit: Homohexamer. Interacts with ADPRT/PARP1
Subcellular location: Nucleus
5 PDB 3D structures from  and Proteopedia  for NMNAT1:1GZU (3D)
1KKU (3D)
1KQN (3D)
1KQO (3D)
1KR2 (3D)
Secondary accessions: B1AN63 Q8TAE9 Q9H247 Q9H6B6Explore the universe of human proteins at neXtProt for NMNAT1: NX_Q9HAN9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9HAN9
NMNAT1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_073624.2
ENSEMBL proteins: ENSP00000385131 ENSP00000366410 ENSP00000435134 ENSP00000467340 Reactome Protein details: Q9HAN9
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
NMNAT1 for ontologies About GeneDecksing
NMNAT1 Antibody Products:
Assay Products for NMNAT1: |
Protein
Domains /
Families
for NMNAT1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
NMNAT1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9HAN9ProtoNet protein and cluster: Q9HAN9 1 Blocks protein family: IPB004820 Cytidylyltransferase
UniProtKB/Swiss-Prot: NMNA1_HUMAN, Q9HAN9Similarity: Belongs to the eukaryotic NMN adenylyltransferase family |
Function
for NMNAT1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: NMNA1_HUMAN, Q9HAN9Function: Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidatedform; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate(TrMP) as substrate. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For thepyrophosphorolytic activity, prefers NAD(+) and NAAD as substrates and degrades NADH, nicotinic acid adeninedinucleotide phosphate (NHD) and nicotinamide guanine dinucleotide (NGD) less effectively. Fails to cleavephosphorylated dinucleotides NADP(+), NADPH and NAADP(+). Protects against axonal degeneration following mechanical ortoxic insultsCatalytic activity: ATP + nicotinamide ribonucleotide = diphosphate + NAD(+)Catalytic activity: ATP + beta-nicotinate-D-ribonucleotide = diphosphate + deamido-NAD(+)Enzyme regulation: Activity is strongly inhibited by galotannin. Inhibited byP1-(adenosine-5')-P4-(nicotinic-acid-riboside-5')-tetraphosphate (Nap4AD)Biophysicochemical properties: Kinetic parameters: KM=34 uM for NMN; KM=40 uM for ATP; KM=937 uM for PPi; KM=59 uM forNAD(+); Vmax=25 umol/min/mg enzyme for NAD synthesis; Vmax=60.5 umol/min/ug enzyme for NAD(+) cleavage; Vmax=8.5umol/min/ug enzyme for NADH cleavage;Enzyme Numbers (IUBMB): EC 2.7.7.181 EC 2.7.7.11
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NMNAT1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NMNAT1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: NMNAT1 (NM_022787) | |  | Sino Biological Human cDNA Clone for NMNAT1 | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NMNAT1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NMNAT1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NMNAT1 |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
NMNAT1 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for NMNAT1:
Animal Models:
Mouse knock-out Nmnat1tm1.2Lcon for NMNAT1
6 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Nmnat1):
NMNAT1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for NMNAT1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Nicotinate metabolism | | | 2 | NAD metabolism | | | 3 | Metabolism | | | 4 | Vitamin B5 (pantothenate) metabolism | | | 5 | tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for NMNAT1
1  GeneGo (Thomson Reuters) Pathway for NMNAT1
5  BioSystems Pathways for NMNAT1
4 
Reactome Pathways for NMNAT1
2 
Kegg Pathways (Kegg details for NMNAT1):
UniProtKB/Swiss-Prot: NMNA1_HUMAN, Q9HAN9Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; NAD(+) from nicotinamide D-ribonucleotide: step 1/1
NMNAT1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NMNAT1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/47 Interacting proteins for NMNAT1 (Q9HAN91, 3 ENSP000003664104) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
About this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table
NMNAT1 for ontologies About GeneDecksing
|
Drugs & Compounds
for NMNAT1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
NMNAT1 for compounds About GeneDecksing
 Browse Tocris compounds for NMNAT1
9 HMDB Compounds for NMNAT1 About this table
3 DrugBank Compounds for NMNAT1 About this table
10 Novoseek chemical compound relationships for NMNAT1 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| nicotinamide mononucleotide |
96.1 |
24 |
7872964 (2), 11959140 (2), 8470897 (2), 11751893 (1) (see all 16) |
| namn |
95.2 |
10 |
11788603 (2), 19448972 (1), 11796112 (1), 16247974 (1) (see all 7) |
| benzamide riboside |
90 |
7 |
11966438 (3) |
| naad |
89.3 |
3 |
12117413 (1), 11788603 (1), 11796112 (1) |
| tiazofurin |
84 |
7 |
11788603 (2), 11966438 (2), 10390601 (1) |
| nad+ |
78.1 |
31 |
8572289 (2), 19478080 (2), 17402747 (1), 20457531 (1) (see all 9) |
| nicotinamide |
69.9 |
6 |
19448972 (1), 11788603 (1), 19478080 (1), 16914673 (1) (see all 5) |
| niacin |
48.7 |
3 |
8470897 (1), 16914673 (1) |
| nadp+ |
45 |
1 |
11788603 (1) |
| atp |
43.3 |
7 |
14516279 (1), 7872964 (1), 11248244 (1), 8572289 (1) (see all 5) |
Search CenterWatch for drugs/clinical trials and news about NMNAT1 / NMNA1
|
Transcripts
for NMNAT1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for NMNAT1 gene: NM_022787.3 Unigene Cluster for NMNAT1: Nicotinamide nucleotide adenylyltransferase 1 Hs.633762 [show with all ESTs]Unigene Representative Sequence: NM_0227875 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000403197 ENST00000377205(uc001aqp.3) ENST00000462686 ENST00000492735
ENST00000496751
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NMNAT1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NMNAT1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: NMNAT1 (NM_022787) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NMNAT1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NMNAT1 |
Additional cDNA sequence: AF088049.1 AF312734.1 AF314163.1 AF459819.1 AK026065.1 AK222920.1 AK315640.1 BC032483.1 8 DOTS entries: DT.100811834 DT.445517 DT.70104559 DT.206714 DT.95161661 DT.65286775 DT.100726688 DT.428038 24/60 AceView cDNA sequences (see all 60): BM693812 BI758308 AA307717 AW004846 AF314163 BF059685 AI244413 AA705016 AA372222 BP339298 BU173830 BG751629 BC032483 W72875 W74399 AI392757 BP379829 BE272001 NM_022787 AA311657 BP372963 BC014943 BX282101 BF341797
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for NMNAT1 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b |
|---|
|
| SP1: | | | | | | | | | | | | | - | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | - | | - | | | | | |
ECgene alternative splicing isoforms for NMNAT1
|
Expression
for NMNAT1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| NMNAT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGGGTGGTG
About this image
See NMNAT1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NMNAT1
SOURCE GeneReport for Unigene cluster: Hs.633762
UniProtKB/Swiss-Prot: NMNA1_HUMAN, Q9HAN9Tissue specificity: Widely expressed with highest levels in skeletal muscle, heart and kidney. Also expressed in theliver pancreas and placenta. Widely expressed throughout the brain
SABiosciences Custom PCR Arrays for NMNAT1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NMNAT1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NMNAT1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NMNAT1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NMNAT1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NMNAT1 |
Orthologs
for NMNAT1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for NMNAT1 gene from 6/25 species (see all 25) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
RBP71 |
retinol binding protein 7, cellular |
69.35(n)
71.79(a) |
|
419447 XM_417606.3 XP_417606.3 |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.157222 |
Xenopus laevis transcribed sequence with weak similarity more |
75.52(n) |
|
BX844470.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Nmnat6 |
Nicotinamide mononucleotide adenylyltransferase |
29(a) |
1 → many |
3R(20770959-20773122) |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
NMA2(YGR010W)4
NMA21 |
Nicotinic acid mononucleotide adenylyltransferase, more4
Nma2p1 |
51.93(n)1
46.35(a)1 |
|
7(511545-512732)4
8528931, 4 NP_011524.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
NMNAT6 |
nicotinamide mononucleotide adenylyltransferase |
30(a) |
1 → many |
5(22583985-22586347) |
rice
(Oryza sativa) |
Liliopsida |
Os02g08149001 |
hypothetical protein |
50(n)
46.36(a) |
|
4331124 NM_001055032.1 NP_001048497.1 |
ENSEMBL Gene Tree for NMNAT1 (if available)
TreeFam Gene Tree for NMNAT1 (if available) |
Paralogs
for NMNAT1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for NMNAT1 gene
- NMNAT32 NMNAT22
2 SIMAP similar genes for NMNAT1 using alignment to 3 protein entries: NMNA1_HUMAN (see all proteins):NMNAT3 NMNAT2
NMNAT1 for paralogs About GeneDecksing
5 Pseudogenes.org Pseudogenes for NMNAT1
PGOHUM00000248242 PGOHUM00000247137 PGOHUM00000245053 PGOHUM00000238298 PGOHUM00000246097
|
Genomic Variants
for NMNAT1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for NMNAT1 (10003486 - 10045559 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NMNAT1: --
Human Gene Mutation Database (HGMD): NMNAT1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NMNAT1 |
|
Disorders
/ Diseases
for NMNAT1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
NMNAT1 for disorders About GeneDecksing
OMIM gene information: 608700
OMIM disorders: --
UniProtKB/Swiss-Prot: NMNA1_HUMAN, Q9HAN9
Defects in NMNAT1 are the cause of Leber congenital amaurosis 9 (LCA9) [MIM:608553]. A severe dystrophy of theretina, typically becoming evident in the first years of life. Visual function is usually poor and often accompaniedby nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus
6  diseases for NMNAT1: About MalaCardswallerian degeneration neuronitis neurodegenerative disease neurodegeneration
neuropathy leukemia
1 disease from the University of Copenhagen DISEASES database for NMNAT1:Leber congenital amaurosis 2 Novoseek disease relationships for NMNAT1 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| wallerian degeneration |
71 |
3 |
20126265 (1), 17113230 (1) |
| neurodegenerative diseases |
36.5 |
3 |
17113230 (1), 19355893 (1) |
Human Genome Epidemiology (HuGE) Navigator: NMNAT1 (4 documents)
Export disorders for NMNAT1 gene to outside databases
|
Publications
for NMNAT1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for NMNAT1 gene, integrated from 9 sources (see all 73):
(articles sorted by number of sources associating them with NMNAT1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Characterization of recombinant human nicotinamide mononucleotide adenylyl transferase (NMNAT), a nuclear enzyme essential for NAD synthesis. (PubMed id 11248244)1, 2, 3, 9 Schweiger M.... Ziegler M. (2001)
- Molecular cloning, chromosomal localization, tissue mRNA levels, bacterial expression, and enzymatic properties of human NMN adenylyltransferase. (PubMed id 11027696)1, 2, 3, 9 Emanuelli M....Magni G. (2001)
- Structure of human nicotinamide/nicotinic acid mononucleotide adenylyltransferase. Basis for the dual substrate specificity and activation of the oncolytic agent tiazofurin. (PubMed id 11788603)1, 2, 9 Zhou T.... Zhang H. (2002)
- Crystal structure of human nicotinamide mononucleotide adenylyltransferase in complex with NMN. (PubMed id 11959140)1, 2, 9 Werner E.... Heinemann U. (2002)
- Structure of human NMN adenylyltransferase. A key nuclear enzyme for NAD homeostasis. (PubMed id 11751893)1, 2, 9 Garavaglia S.... Rizzi M. (2002)
- Initial-rate kinetics of human NMN-adenylyltransferases: substrate and metal ion specificity, inhibition by products and multisubstrate analogues, and isozyme contributions to NAD+ biosynthesis. (PubMed id 17402747)1, 2, 9 Sorci L.... Magni G. (2007)
- Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms. (PubMed id 16118205)1, 2, 9 Berger F.... Ziegler M. (2005)
- Human homologue of a gene mutated in the slow Wallerian degeneration (C57BL/Wld(s)) mouse. (PubMed id 11891043)1, 2, 9 Fernando F.S.... Coleman M.P. (2002)
- Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. (PubMed id 22842230)1, 2 Koenekoop R.K.... Chen R. (2012)
- Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. (PubMed id 22842229)1, 2 Perrault I.... Rozet J.M. (2012)
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External Searches for NMNAT1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing NMNAT1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing NMNAT1 gene
(According to HUGE)
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Specialized Databases showing NMNAT1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for NMNAT1 | Pharmacogenomics, SNPs, Pathways |
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| Patent Information for NMNAT1 gene:
Search GeneIP for patents involving NMNAT1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for NMNAT1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for NMNAT1 | | OriGene shRNA RFP for NMNAT1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NMNAT1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NMNAT1 | | | OriGene Protein Over-expression Lysate for NMNAT1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for NMNAT1 | | OriGene 3'-UTR Clone for NMNAT1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NMNAT1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NMNAT1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for NMNAT1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for NMNAT1 | | OriGene Custom Protein Services for NMNAT1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat NMNAT1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NMNAT1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NMNAT1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NMNAT1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NMNAT1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NMNAT1 |
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| | | | Search Tocris compounds for NMNAT1 |
| |  |  |  |  | | | | | | Recombinant Protein for NMNAT1 |
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 | | | NMNAT1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NMNAT1 |
|  |  |  | | | | Search ThermoFisher Antibodies for NMNAT1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NMNAT1 |
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