Gene
nmnat1
- ID
- ZDB-GENE-050417-101
- Name
- nicotinamide nucleotide adenylyltransferase 1
- Symbol
- nmnat1 Nomenclature History
- Previous Names
-
- id:ibd5068
- im:7144541
- zgc:110243
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have nicotinamide-nucleotide adenylyltransferase activity and nicotinate-nucleotide adenylyltransferase activity. Predicted to be involved in NAD biosynthetic process. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 9. Is expressed in several structures, including Kupffer's vesicle; forerunner cell group; heart; liver; and yolk syncytial layer. Orthologous to human NMNAT1 (nicotinamide nucleotide adenylyltransferase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:110243 (4 images)
- IMAGE:7144541 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Leber congenital amaurosis 9 | Alliance | Leber congenital amaurosis 9 | 608553 |
| spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis | Alliance | Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis | 619260 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR004821 | Cytidyltransferase-like domain |
| Family | IPR005248 | Nicotinate/nicotinamide nucleotide adenylyltransferase |
| Family | IPR045094 | Nicotinamide/nicotinate mononucleotide adenylyltransferase, eukaryotic |
| Family | IPR051182 | Eukaryotic NMN adenylyltransferase |
| Homologous_superfamily | IPR014729 | Rossmann-like alpha/beta/alpha sandwich fold |
Domain Details Per Protein
| Protein | Length | Cytidyltransferase-like domain | Eukaryotic NMN adenylyltransferase | Nicotinamide/nicotinate mononucleotide adenylyltransferase, eukaryotic | Nicotinate/nicotinamide nucleotide adenylyltransferase | Rossmann-like alpha/beta/alpha sandwich fold |
|---|---|---|---|---|---|---|
|
UniProtKB:E9QH56
|
271 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
nmnat1-201
(1)
|
Ensembl | 1,107 nt | ||
| mRNA |
nmnat1-202
(1)
|
Ensembl | 1,042 nt |
Interactions and Pathways
No data available
Plasmids
No data available