InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NF1

Summary

InnateDB Protein

IDBP-39466.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NF1

Protein Name

neurofibromin 1

Synonyms

NFNS; VRNF; WSS;

Species

Homo sapiens

Ensembl Protein

ENSP00000351015

InnateDB Gene

IDBG-39462 (NF1)

Protein Structure

UniProt Annotation

Function

Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. {ECO:0000269PubMed:2121371, ECO:0000269PubMed:8417346}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:14988005}. Nucleus, nucleolus {ECO:0000269PubMed:14988005}.

Disease Associations

Neurofibromatosis 1 (NF1) [MIM:162200]: A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. {ECO:0000269PubMed:10220149, ECO:0000269PubMed:10336779, ECO:0000269PubMed:10607834, ECO:0000269PubMed:10712197, ECO:0000269PubMed:10980545, ECO:0000269PubMed:11258625, ECO:0000269PubMed:11735023, ECO:0000269PubMed:11857752, ECO:0000269PubMed:12522551, ECO:0000269PubMed:12552569, ECO:0000269PubMed:12746402, ECO:0000269PubMed:1302608, ECO:0000269PubMed:15060124, ECO:0000269PubMed:15146469, ECO:0000269PubMed:15520408, ECO:0000269PubMed:15523642, ECO:0000269PubMed:15948193, ECO:0000269PubMed:2114220, ECO:0000269PubMed:21838856, ECO:0000269PubMed:7981679, ECO:0000269PubMed:8081387, ECO:0000269PubMed:8544190, ECO:0000269PubMed:8807336, ECO:0000269PubMed:8834249, ECO:0000269PubMed:9003501, ECO:0000269PubMed:9101300, ECO:0000269PubMed:9150739, ECO:0000269PubMed:9298829, ECO:0000269PubMed:9668168}. Note=The disease is caused by mutations affecting the gene represented in this entry.Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. Note=The disease is caused by mutations affecting the gene represented in this entry.Watson syndrome (WS) [MIM:193520]: A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. It is considered as an atypical form of neurofibromatosis. Note=The disease is caused by mutations affecting the gene represented in this entry.Familial spinal neurofibromatosis (FSNF) [MIM:162210]: Considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors. {ECO:0000269PubMed:11704931}. Note=The disease is caused by mutations affecting the gene represented in this entry.Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]: Characterized by manifestations of both NF1 and Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis. {ECO:0000269PubMed:12707950, ECO:0000269PubMed:16380919, ECO:0000269PubMed:19845691}. Note=The disease is caused by mutations affecting the gene represented in this entry.Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The gene represented in this entry may be involved in disease pathogenesis.

Tissue Specificity

Detected in brain, peripheral nerve, lung, colon and muscle. {ECO:0000269PubMed:8417346}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Experimentally validated
Total	26 [view]
Protein-Protein	23 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005096	GTPase activator activity
GO:0005099	Ras GTPase activator activity
GO:0005488	binding
GO:0005515	protein binding
GO:0008429	phosphatidylethanolamine binding
GO:0031210	phosphatidylcholine binding

Biological Process

GO:0000165	MAPK cascade
GO:0001649	osteoblast differentiation
GO:0001656	metanephros development
GO:0001666	response to hypoxia
GO:0001889	liver development
GO:0001937	negative regulation of endothelial cell proliferation
GO:0001938	positive regulation of endothelial cell proliferation
GO:0001952	regulation of cell-matrix adhesion
GO:0001953	negative regulation of cell-matrix adhesion
GO:0006469	negative regulation of protein kinase activity
GO:0007154	cell communication
GO:0007165	signal transduction
GO:0007265	Ras protein signal transduction
GO:0007406	negative regulation of neuroblast proliferation
GO:0007420	brain development
GO:0007422	peripheral nervous system development
GO:0007507	heart development
GO:0007519	skeletal muscle tissue development
GO:0008285	negative regulation of cell proliferation
GO:0008542	visual learning
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors
GO:0014044	Schwann cell development
GO:0014065	phosphatidylinositol 3-kinase signaling
GO:0016525	negative regulation of angiogenesis
GO:0021510	spinal cord development
GO:0021897	forebrain astrocyte development
GO:0021915	neural tube development
GO:0021987	cerebral cortex development
GO:0022011	myelination in peripheral nervous system
GO:0030036	actin cytoskeleton organization
GO:0030198	extracellular matrix organization
GO:0030199	collagen fibril organization
GO:0030325	adrenal gland development
GO:0030336	negative regulation of cell migration
GO:0032228	regulation of synaptic transmission, GABAergic
GO:0032318	regulation of Ras GTPase activity
GO:0032320	positive regulation of Ras GTPase activity
GO:0035021	negative regulation of Rac protein signal transduction
GO:0042060	wound healing
GO:0042127	regulation of cell proliferation
GO:0042992	negative regulation of transcription factor import into nucleus
GO:0043065	positive regulation of apoptotic process
GO:0043407	negative regulation of MAP kinase activity
GO:0043409	negative regulation of MAPK cascade
GO:0043473	pigmentation
GO:0043525	positive regulation of neuron apoptotic process
GO:0043535	regulation of blood vessel endothelial cell migration
GO:0045124	regulation of bone resorption
GO:0045671	negative regulation of osteoclast differentiation
GO:0045685	regulation of glial cell differentiation
GO:0045762	positive regulation of adenylate cyclase activity
GO:0045765	regulation of angiogenesis
GO:0046580	negative regulation of Ras protein signal transduction
GO:0046929	negative regulation of neurotransmitter secretion
GO:0048147	negative regulation of fibroblast proliferation
GO:0048169	regulation of long-term neuronal synaptic plasticity
GO:0048485	sympathetic nervous system development
GO:0048593	camera-type eye morphogenesis
GO:0048712	negative regulation of astrocyte differentiation
GO:0048715	negative regulation of oligodendrocyte differentiation
GO:0048745	smooth muscle tissue development
GO:0048844	artery morphogenesis
GO:0048853	forebrain morphogenesis
GO:0050890	cognition
GO:0051056	regulation of small GTPase mediated signal transduction
GO:1902043	positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:2001241	positive regulation of extrinsic apoptotic signaling pathway in absence of ligand

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005730	nucleolus
GO:0005737	cytoplasm
GO:0016020	membrane
GO:0030424	axon
GO:0030425	dendrite
GO:0031235	intrinsic component of the cytoplasmic side of the plasma membrane