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
Expression
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
All Phenotype Data
2 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With nf1b Human Ortholog
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
Associated With nf1b Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA nf1b-201 (1) Ensembl 8,675 nt
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-nf1 polyclonal IgG Rabbit
  • WB
Abcam plc
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations