ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable ATP hydrolysis activity. Predicted to be involved in Golgi to plasma membrane protein transport and intra-Golgi vesicle-mediated transport. Predicted to be active in Golgi stack. Is expressed in several structures, including nervous system; otic vesicle; pectoral fin; pectoral fin bud; and swim bladder. Used to study oculocutaneous albinism. Human ortholog(s) of this gene implicated in cocaine dependence and developmental and epileptic encephalopathy 96. 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 | Additional Resources | 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 | InterPro | 653 | |||||||||||
| UniProtKB:Q4U0S6 | InterPro | 747 | |||||||||||
| UniProtKB:F1QGG3 | InterPro | 747 | |||||||||||
| UniProtKB:A0AC58GVK0 | InterPro | 747 | |||||||||||
| UniProtKB:A0ACD6B677 | InterPro | 747 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers