Gene
nsfb
- ID
- ZDB-GENE-050808-1
- Name
- N-ethylmaleimide-sensitive factor b
- Symbol
- nsfb Nomenclature History
- Previous Names
-
- unm_au13
- unm_au18
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to have ATPase activity. Involved in pigment granule maturation and retinal pigment epithelium development. Predicted to localize to Golgi stack. Used to study oculocutaneous albinism. Is expressed in several structures, including nervous system; otic vesicle; pectoral fin; pectoral fin bud; and swim bladder. Orthologous to human NSF (N-ethylmaleimide sensitive factor, vesicle fusing ATPase).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
developmental and epileptic encephalopathy 96 | Alliance | Developmental and epileptic encephalopathy 96 | 619340 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
oculocutaneous albinism | nsfbau13/au13 | standard conditions | Hanovice et al., 2015 |
oculocutaneous albinism | nsfbau18/au18 (AB) | standard conditions | Hanovice et al., 2015 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR003960 | ATPase, AAA-type, conserved site |
Domain | IPR003338 | CDC48, N-terminal subdomain |
Domain | IPR003593 | AAA+ ATPase domain |
Domain | IPR003959 | ATPase, AAA-type, core |
Domain | IPR004201 | CDC48, domain 2 |
Domain | IPR041569 | AAA ATPase, AAA+ lid domain |
Domain | IPR054419 | NSF, AAA+ ATPase lid domain |
Family | IPR039812 | Vesicle-fusing ATPase |
Homologous_superfamily | IPR009010 | Aspartate decarboxylase-like domain superfamily |
Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Homologous_superfamily | IPR029067 | CDC48 domain 2-like superfamily |
Domain Details Per Protein
Protein | Length | AAA ATPase, AAA+ lid domain | AAA+ ATPase domain | Aspartate decarboxylase-like domain superfamily | ATPase, AAA-type, conserved site | ATPase, AAA-type, core | CDC48, domain 2 | CDC48 domain 2-like superfamily | CDC48, N-terminal subdomain | NSF, AAA+ ATPase lid domain | P-loop containing nucleoside triphosphate hydrolase | Vesicle-fusing ATPase |
---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M6Z3H7
|
653 | |||||||||||
UniProtKB:Q4U0S6
|
747 | |||||||||||
UniProtKB:F1QGG3
|
747 |
Interactions and Pathways
No data available
Plasmids
No data available