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

Predicted to have GTPase activator activity. Involved in several processes, including circulatory system development; learning or memory; and neurogenesis. Is expressed in blood vasculature; dorsal aorta; head; heart; and spinal cord. Human ortholog(s) of this gene implicated in autistic disorder; brain cancer (multiple); hematologic cancer (multiple); neurofibromatosis 1; and neurofibromatosis-Noonan syndrome. 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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 9 figures from 4 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
		Leukemia, juvenile myelomonocytic	607785
		Neurofibromatosis, familial spinal	162210
		Neurofibromatosis, type 1	162200
		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:A0A8M9P7D0 InterPro	2805
UniProtKB:A0A8M3AHJ5 InterPro	2763
UniProtKB:A0A8M9PLQ7 InterPro	2784
UniProtKB:A0A8M9PCG0 InterPro	2787
UniProtKB:A0A8M9PLQ0 InterPro	2831
UniProtKB:A0A8M3APZ4 InterPro	2810
UniProtKB:A0A8M9NYP4 InterPro	2806
UniProtKB:A0A8M9PIQ8 InterPro	2828

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	nf1a-201 (1) Ensembl	Ensembl	8334 nt	Select Tool ZFIN BLAST
mRNA	nf1a-202 (1) Ensembl	Havana	689 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	nf1a-203 (1) Ensembl	Havana	11386 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-nf1	polyclonal	nf1a nf1b	IgG	Rabbit	WB	Abcam plc	1

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance

Citations