Gene
nf1b
- ID
- ZDB-GENE-091111-4
- Name
- neurofibromin 1b
- Symbol
- nf1b Nomenclature History
- Previous Names
-
- si:dkey-15g19.1
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Involved in several processes, including circulatory system development; learning or memory; and neurogenesis. Human ortholog(s) of this gene implicated in autistic disorder; central nervous system cancer (multiple); hematologic cancer (multiple); neurofibromatosis 1; and neurofibromatosis-Noonan syndrome. Is expressed in blood vasculature; dorsal aorta; head; heart; and spinal cord. Orthologous to human NF1 (neurofibromin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 4 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 |
|---|---|---|---|
| juvenile myelomonocytic leukemia | Alliance | Leukemia, juvenile myelomonocytic | 607785 |
| neurofibromatosis 1 | Alliance | Neurofibromatosis, type 1 | 162200 |
| neurofibromatosis-Noonan syndrome | Alliance | Neurofibromatosis-Noonan syndrome | 601321 |
| spinal neurofibromatosis | Alliance | Neurofibromatosis, familial spinal | 162210 |
| Watson syndrome | Alliance | Watson syndrome | 193520 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR023152 | Ras GTPase-activating protein, conserved site |
| Domain | IPR001251 | CRAL-TRIO lipid binding domain |
| Domain | IPR001936 | Ras GTPase-activating domain |
| Domain | IPR054071 | Neurofibromin, PH domain-like |
| Family | IPR039360 | Ras GTPase-activating protein |
| Homologous_superfamily | IPR008936 | Rho GTPase activation protein |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR016024 | Armadillo-type fold |
| Homologous_superfamily | IPR036865 | CRAL-TRIO lipid binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Armadillo-type fold | CRAL-TRIO lipid binding domain | CRAL-TRIO lipid binding domain superfamily | Neurofibromin, PH domain-like | PH-like domain superfamily | Ras GTPase-activating domain | Ras GTPase-activating protein | Ras GTPase-activating protein, conserved site | Rho GTPase activation protein |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2BH35
|
2738 | |||||||||
|
UniProtKB:E7FFY1
|
2759 |
Interactions and Pathways
No data available
Plasmids
No data available