Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | NMNAT3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | NMNAT3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | The secret life of NAD+: an old metabolite controlling new metabolic signaling pathways. | Houtkooper RH, etal., Endocr Rev. 2010 Apr;31(2):194-223. doi: 10.1210/er.2009-0026. Epub 2009 Dec 9. |
2. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
3. | Axonal protection by Nmnat3 overexpression with involvement of autophagy in optic nerve degeneration. | Kitaoka Y, etal., Cell Death Dis. 2013 Oct 17;4:e860. doi: 10.1038/cddis.2013.391. |
4. | MGDs mouse GO annotations | MGD data from the GO Consortium |
5. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
6. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
7. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:12477932 | PMID:14681479 | PMID:15489334 | PMID:16141072 | PMID:16141073 | PMID:16618939 | PMID:16914673 | PMID:17967808 |
PMID:19439605 | PMID:21267068 | PMID:21873635 | PMID:23082226 | PMID:23946398 | PMID:24739386 | PMID:26624618 | PMID:26756334 | PMID:27423420 | PMID:27428041 | PMID:29901258 | PMID:30166529 |
PMID:30550785 | PMID:30671537 | PMID:31511627 | PMID:32325033 | PMID:33107823 | PMID:36375251 |
Nmnat3 (Mus musculus - house mouse) |
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NMNAT3 (Homo sapiens - human) |
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Nmnat3 (Rattus norvegicus - Norway rat) |
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Nmnat3 (Chinchilla lanigera - long-tailed chinchilla) |
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NMNAT3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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NMNAT3 (Canis lupus familiaris - dog) |
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Nmnat3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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NMNAT3 (Sus scrofa - pig) |
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NMNAT3 (Chlorocebus sabaeus - green monkey) |
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Nmnat3 (Heterocephalus glaber - naked mole-rat) |
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Variants in Nmnat3
4160 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
RefSeq Transcripts | NM_001357445 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001357446 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001357449 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001357451 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001357452 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_144533 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006511502 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006511503 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006511504 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011242826 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011242827 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030244660 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036155348 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC121597 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC144809 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK016744 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK040783 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK041526 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK041897 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BB661406 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC005737 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC092086 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BF472005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466560 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000112935 ⟹ ENSMUSP00000108557 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000112937 ⟹ ENSMUSP00000108559 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000112938 ⟹ ENSMUSP00000108560 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000129771 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000134253 ⟹ ENSMUSP00000141111 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000141427 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001357445 ⟹ NP_001344374 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001357446 ⟹ NP_001344375 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001357449 ⟹ NP_001344378 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001357451 ⟹ NP_001344380 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001357452 ⟹ NP_001344381 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_144533 ⟹ NP_653116 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006511502 ⟹ XP_006511565 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006511503 ⟹ XP_006511566 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006511504 ⟹ XP_006511567 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011242826 ⟹ XP_011241128 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011242827 ⟹ XP_011241129 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030244660 ⟹ XP_030100520 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036155348 ⟹ XP_036011241 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001344374 | (Get FASTA) | NCBI Sequence Viewer |
NP_001344375 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001344378 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001344380 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001344381 | (Get FASTA) | NCBI Sequence Viewer | |
NP_653116 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006511565 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006511566 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006511567 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011241128 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011241129 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030100520 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036011241 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH05737 | (Get FASTA) | NCBI Sequence Viewer |
AAH92086 | (Get FASTA) | NCBI Sequence Viewer | |
BAE20591 | (Get FASTA) | NCBI Sequence Viewer | |
BAE20611 | (Get FASTA) | NCBI Sequence Viewer | |
EDL20981 | (Get FASTA) | NCBI Sequence Viewer | |
EDL20982 | (Get FASTA) | NCBI Sequence Viewer | |
EDL20983 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000108557 | ||
ENSMUSP00000108557.3 | |||
ENSMUSP00000108559 | |||
ENSMUSP00000108559.2 | |||
ENSMUSP00000108560 | |||
ENSMUSP00000108560.2 | |||
ENSMUSP00000141111.2 | |||
GenBank Protein | Q99JR6 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_653116 ⟸ NM_144533 |
- Peptide Label: | isoform a |
- UniProtKB: | Q58E37 (UniProtKB/Swiss-Prot), Q99JR6 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006511565 ⟸ XM_006511502 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q58E37 (UniProtKB/Swiss-Prot), Q99JR6 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006511566 ⟸ XM_006511503 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q58E37 (UniProtKB/Swiss-Prot), Q99JR6 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006511567 ⟸ XM_006511504 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q58E37 (UniProtKB/Swiss-Prot), Q99JR6 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011241128 ⟸ XM_011242826 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q58E37 (UniProtKB/Swiss-Prot), Q99JR6 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011241129 ⟸ XM_011242827 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q58E37 (UniProtKB/Swiss-Prot), Q99JR6 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001344378 ⟸ NM_001357449 |
- Peptide Label: | isoform d |
- UniProtKB: | Q3V3F1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001344381 ⟸ NM_001357452 |
- Peptide Label: | isoform d |
- UniProtKB: | Q3V3F1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001344380 ⟸ NM_001357451 |
- Peptide Label: | isoform d |
- UniProtKB: | Q3V3F1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001344375 ⟸ NM_001357446 |
- Peptide Label: | isoform c |
RefSeq Acc Id: | NP_001344374 ⟸ NM_001357445 |
- Peptide Label: | isoform b |
- UniProtKB: | Q3V3C7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_030100520 ⟸ XM_030244660 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q99JR6 (UniProtKB/Swiss-Prot), Q58E37 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | ENSMUSP00000108560 ⟸ ENSMUST00000112938 |
RefSeq Acc Id: | ENSMUSP00000108559 ⟸ ENSMUST00000112937 |
RefSeq Acc Id: | ENSMUSP00000108557 ⟸ ENSMUST00000112935 |
RefSeq Acc Id: | ENSMUSP00000141111 ⟸ ENSMUST00000134253 |
RefSeq Acc Id: | XP_036011241 ⟸ XM_036155348 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q99JR6-F1-model_v2 | AlphaFold | Q99JR6 | 1-245 | view protein structure |
RGD ID: | 6844880 | ||||||||
Promoter ID: | MM_KWN:58463 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, Spleen | ||||||||
Transcripts: | ENSMUST00000112937, ENSMUST00000112938, NM_144533, OTTMUST00000054280 | ||||||||
Position: |
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RGD ID: | 8670524 | ||||||||
Promoter ID: | EPDNEW_M13292 | ||||||||
Type: | initiation region | ||||||||
Name: | Nmnat3_3 | ||||||||
Description: | Mus musculus nicotinamide nucleotide adenylyltransferase 3 ,transcript variant 5, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M13293 EPDNEW_M13294 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 8670526 | ||||||||
Promoter ID: | EPDNEW_M13293 | ||||||||
Type: | initiation region | ||||||||
Name: | Nmnat3_1 | ||||||||
Description: | Mus musculus nicotinamide nucleotide adenylyltransferase 3 ,transcript variant 5, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M13292 EPDNEW_M13294 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 8670528 | ||||||||
Promoter ID: | EPDNEW_M13294 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Nmnat3_2 | ||||||||
Description: | Mus musculus nicotinamide nucleotide adenylyltransferase 3 ,transcript variant 5, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M13292 EPDNEW_M13293 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:1921330 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000032456 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000112935 | ENTREZGENE |
ENSMUST00000112935.8 | UniProtKB/Swiss-Prot | |
ENSMUST00000112937 | ENTREZGENE | |
ENSMUST00000112937.3 | UniProtKB/TrEMBL | |
ENSMUST00000112938 | ENTREZGENE | |
ENSMUST00000112938.8 | UniProtKB/TrEMBL | |
ENSMUST00000134253.8 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.50.620 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | Cyt_trans-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NadD/NMNAT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NMNAT_euk | UniProtKB/Swiss-Prot | |
Rossmann-like_a/b/a_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:74080 | UniProtKB/Swiss-Prot |
MGD | MGI:1921330 | ENTREZGENE |
NCBI Gene | 74080 | ENTREZGENE |
PANTHER | NICOTINAMIDE MONONUCLEOTIDE ADENYLYLTRANSFERASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NICOTINAMIDE/NICOTINIC ACID MONONUCLEOTIDE ADENYLYLTRANSFERASE 3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | CTP_transf_like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Nmnat3 | PhenoGen |
Superfamily-SCOP | Nucleotidylyl transferase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A087WSM7_MOUSE | UniProtKB/TrEMBL |
NMNA3_MOUSE | UniProtKB/Swiss-Prot | |
Q3V3C7 | ENTREZGENE, UniProtKB/TrEMBL | |
Q3V3F1 | ENTREZGENE, UniProtKB/TrEMBL | |
Q58E37 | ENTREZGENE | |
Q99JR6 | ENTREZGENE | |
UniProt Secondary | Q58E37 | UniProtKB/Swiss-Prot |