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
Thisse Expression Data
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
Homologous_superfamily IPR014729 Rossmann-like alpha/beta/alpha sandwich fold
Domain Details Per Protein
Protein Length Cytidyltransferase-like domain Nicotinamide/nicotinate mononucleotide adenylyltransferase, eukaryotic Nicotinate/nicotinamide nucleotide adenylyltransferase Rossmann-like alpha/beta/alpha sandwich fold
UniProtKB:E9QH56 271
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations