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Protein Coding Gene : Nmnat1 nicotinamide nucleotide adenylyltransferase 1

Primary Identifier  MGI:1913704 Organism  mouse, laboratory
Chromosome  4 NCBI Gene Number  66454
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables nicotinamide-nucleotide adenylyltransferase activity; nicotinate-nucleotide adenylyltransferase activity; and protein ADP-ribosyltransferase-substrate adaptor activity. Involved in negative regulation of DNA-templated transcription. Acts upstream of or within NAD biosynthetic process and response to wounding. Located in nucleus. Part of chromatin. Is expressed in retina; retina ganglion cell layer; retina inner nuclear layer; and retina layer. Used to study Leber congenital amaurosis 9 and retinal degeneration. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 9 and spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis. Orthologous to human NMNAT1 (nicotinamide nucleotide adenylyltransferase 1).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete prenatal lethality. [provided by MGI curators]
  • synonyms:
  • MGI:1917803,
  • RIKEN cDNA 5730441G13 gene,
  • 2610529L11Rik,
  • nicotinamide mononucleotide adenylyl transferase,
  • DNA segment, Chr 4, Michael Coleman 1, expressed,
  • RIKEN cDNA 2610529L11 gene,
  • MGI:1927087,
  • nmnat,
  • Nmnat1,
  • D4Cole1e,
  • nicotinamide nucleotide adenylyltransferase 1,
  • 5730441G13Rik

Features --> Cross References

Genome

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

3 Involved In Mutations

0 Strain

0 Transcripts

1 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

4 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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0 Driver For