Detailed information for NMNAT1
Basic information
| Official symbol | NMNAT1 |
|---|---|
| Official full name | nicotinamide nucleotide adenylyltransferase 1 |
| Location | 1p36.22 |
| Gene type | protein-coding |
| Synonyms | LCA9|NMNAT|PNAT1 |
| Quick links | Entrez ID:64802; HGNC:17877; MIM:608700; Ensembl:ENSG00000173614; HPRD:16369; Vega:OTTHUMG00000001799 |
GO related
| GO term accession | GO term name | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-Value |
|---|---|---|---|---|---|---|---|
| GO:0005488 | binding | 11955 | 150 | 132.97 | 1.13 | 0.0005 | 0.0090 |
| GO:0005515 | protein binding | 7337 | 102 | 81.61 | 1.25 | 0.0011 | 0.0149 |
| GO:0043168 | anion binding | 2402 | 40 | 26.72 | 1.50 | 0.0048 | 0.0336 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|
PPI related
| ID | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr1 | 10002485 | 10046556 | 608553 | Leber congenital amaurosis 9 | 3 | 608700 | 1p36.22 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr1 | 10002485 | 10046556 | 64802 | Nmnat1 | MGI:1913704 | MP:0003012 | no phenotypic analysis |
| chr1 | 10002485 | 10046556 | 64802 | Nmnat1 | MGI:1913704 | MP:0003631 | nervous system phenotype |
| chr1 | 10002485 | 10046556 | 64802 | Nmnat1 | MGI:1913704 | MP:0005376 | homeostasis/metabolism phenotype |
| chr1 | 10002485 | 10046556 | 64802 | Nmnat1 | MGI:1913704 | MP:0005386 | behavior/neurological phenotype |
| chr1 | 10002485 | 10046556 | 64802 | Nmnat1 | MGI:1913704 | MP:0005391 | vision/eye phenotype |
| chr1 | 10002485 | 10046556 | 64802 | Nmnat1 | MGI:1913704 | MP:0010768 | mortality/aging |
Mutation spectrum
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Gene-disease network
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