NMNAT1

nicotinamide nucleotide adenylyltransferase 1

Ensembl:
ENSG00000173614
UniProt:
Q9HAN9
OMIM:
608700
Synonyms:
LCA9, NMNAT, PNAT1

Cilia effects upon perturbation of NMNAT1

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=94, lfc=0.81) PMID:30270045

Phenotypes

Mouse phenotype:
abnormal bone structure, increased bone mineral content, increased mean corpuscular volume
Human ciliopathy phenotype:
Leber congenital amaurosis 9; Leber congenital amaurosis; spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis; cone-rod dystrophy

Ciliopathy associations

  • Leber Congenital Amaurosis

Subcellular localization

basal body, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Metabolism
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

NM T1 plays an important role in photoreceptors and is likely involved in both reti l development and mainte nce of photoreceptor integrity (29674119).