Gene

nf1a

ID
ZDB-GENE-030131-4907
Name
neurofibromin 1a
Symbol
nf1a Nomenclature History
Previous Names
  • nf1 (2)
  • fe06d03
  • hm:zehn0874 (1)
  • wu:fe06d03
  • zehn0874
Type
protein_coding_gene
Location
Chr: 15 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
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With nf1a 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, familial spinal 162210
neurofibromatosis 1 Alliance Neurofibromatosis, type 1 162200
neurofibromatosis-Noonan syndrome Alliance Neurofibromatosis-Noonan syndrome 601321
Watson syndrome 193520
Associated With nf1a 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
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 PH-like domain superfamily Ras GTPase-activating domain Ras GTPase-activating protein Ras GTPase-activating protein, conserved site Rho GTPase activation protein
UniProtKB:X1WCU2 59
UniProtKB:X1WE29 2759
UniProtKB:E7FBD0 2777
Transcripts
Genome Browsers
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
Citations