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 enable nicotinamide-nucleotide adenylyltransferase activity and nicotinate-nucleotide adenylyltransferase activity. Predicted to be involved in NAD biosynthetic process. Predicted to act upstream of or within pyridine nucleotide biosynthetic process. Is expressed in several structures, including Kupffer's vesicle; forerunner cell group; heart; liver; and yolk syncytial layer. 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).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

8 figures from 2 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:110243 (4 images)
IMAGE:7144541 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With nmnat1 Human Ortholog

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

Associated With nmnat1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

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