HUMAN:NF1

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	NF1
Protein Name(s)	Neurofibromin Neurofibromatosis-related protein NF-1 Neurofibromin truncated
External Links
UniProt	P21359
EMBL	M89914 M82814 M60496 D12625 M38106 M38107 D42072 AY796305 AC004222 AC079915 AC134669 AC135724 AC138207 AC139072 CH471147 CH471147 AH000834 Y07853 U17690 U17680 U17681 U17682 U17683 U17684 U17685 U17686 U17687 U17688 U17689 U17690 U17680 U17681 U17682 U17683 U17684 U17685 U17687 U17688 U17689 U17656 U17659 U17662 U17668 U17667 U17673 U17677 U17676 M60915 M60915 M61213 S51751 D10490
CCDS	CCDS11264.1 CCDS42292.1 CCDS45645.1
PIR	B55282 I78852
RefSeq	NP_000258.1 NP_001035957.1 NP_001121619.1
UniGene	Hs.113577
PDB	1NF1 2D4Q 2E2X 3P7Z 3PEG 3PG7
PDBsum	1NF1 2D4Q 2E2X 3P7Z 3PEG 3PG7
ProteinModelPortal	P21359
SMR	P21359
BioGrid	110836
IntAct	P21359
MINT	MINT-1504522
STRING	9606.ENSP00000351015
PhosphoSite	P21359
DMDM	548350
MaxQB	P21359
PaxDb	P21359
PRIDE	P21359
Ensembl	ENST00000356175 ENST00000358273 ENST00000431387
GeneID	4763
KEGG	hsa:4763
UCSC	uc002hge.2 uc002hgf.2 uc002hgg.3 uc002hgh.3
CTD	4763
GeneCards	GC17P029421
GeneReviews	NF1
HGNC	HGNC:7765
HPA	CAB004786 HPA045502
MIM	114500 162200 162210 193520 601321 607785 613113
neXtProt	NX_P21359
Orphanet	97685 139474 86834 363700 638
PharmGKB	PA31572
eggNOG	COG5261
GeneTree	ENSGT00550000074797
HOGENOM	HOG000047020
HOVERGEN	HBG006486
InParanoid	P21359
KO	K08052
OMA	AEIMADT
OrthoDB	EOG74J96W
PhylomeDB	P21359
TreeFam	TF300302
SignaLink	P21359
ChiTaRS	NF1
EvolutionaryTrace	P21359
GeneWiki	Neurofibromin_1
GenomeRNAi	4763
NextBio	18348
PRO	PR:P21359
Proteomes	UP000005640
Bgee	P21359
CleanEx	HS_NF1
ExpressionAtlas	P21359
Genevestigator	P21359
GO	GO:0030424 GO:0005737 GO:0030425 GO:0031235 GO:0016020 GO:0005730 GO:0005634 GO:0031210 GO:0008429 GO:0005099 GO:0030036 GO:0030325 GO:0048844 GO:0007420 GO:0048593 GO:0007154 GO:0021987 GO:0050890 GO:0030199 GO:0030198 GO:0008625 GO:0021897 GO:0048853 GO:0007507 GO:0001889 GO:0000165 GO:0001656 GO:0022011 GO:0016525 GO:0048712 GO:0030336 GO:0001953 GO:0001937 GO:0048147 GO:0043407 GO:0043409 GO:0007406 GO:0046929 GO:0048715 GO:0045671 GO:0006469 GO:0035021 GO:0046580 GO:0042992 GO:0021915 GO:0001649 GO:0007422 GO:0014065 GO:0043473 GO:0045762 GO:0043065 GO:0001938 GO:2001241 GO:1902043 GO:0043525 GO:0032320 GO:0007265 GO:0045765 GO:0043535 GO:0045124 GO:0001952 GO:0045685 GO:0048169 GO:0032318 GO:0032228 GO:0001666 GO:0014044 GO:0007519 GO:0048745 GO:0021510 GO:0048485 GO:0008542 GO:0042060
Gene3D	1.25.10.10
InterPro	IPR011989 IPR016024 IPR001251 IPR028553 IPR023152 IPR001936 IPR008936
PANTHER	PTHR10194:SF60
Pfam	PF13716 PF00616
SMART	SM00323 SM00516
SUPFAM	SSF48350 SSF48371
PROSITE	PS50191 PS00509 PS50018

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
part_of	GO:0016020	membrane	PMID:19946888^[1]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0050890	cognition	PMID:17299016^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0048853	forebrain morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0048844	artery morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0048745	smooth muscle tissue development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0048715	negative regulation of oligodendrocyte differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0048593	camera-type eye morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0048485	sympathetic nervous system development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0045765	regulation of angiogenesis	PMID:17404841^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0045762	positive regulation of adenylate cyclase activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0045685	regulation of glial cell differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0045124	regulation of bone resorption	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0043535	regulation of blood vessel endothelial cell migration	PMID:17404841^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0043525	positive regulation of neuron apoptotic process	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0043473	pigmentation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0043409	negative regulation of MAPK cascade	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0043407	negative regulation of MAP kinase activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0043065	positive regulation of apoptotic process	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0042060	wound healing	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0043547	positive regulation of GTPase activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0043087	regulation of GTPase activity	PMID:1570015^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0030425	dendrite	PMID:1550670^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0030424	axon	PMID:1550670^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0030325	adrenal gland development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0030199	collagen fibril organization	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0030198	extracellular matrix organization	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0030036	actin cytoskeleton organization	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0022011	myelination in peripheral nervous system	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0021987	cerebral cortex development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0021897	forebrain astrocyte development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0021510	spinal cord development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0014065	phosphatidylinositol 3-kinase signaling	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0014044	Schwann cell development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0008542	visual learning	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0007507	heart development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0007422	peripheral nervous system development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0007420	brain development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0007406	negative regulation of neuroblast proliferation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0007265	Ras protein signal transduction	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0007154	cell communication	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0006469	negative regulation of protein kinase activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:1550670^[5]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P97526	C	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:1550670^[5]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P97526	C	Seeded From UniProt	complete
enables	GO:0005096	GTPase activator activity	PMID:1570015^[4]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0005096	GTPase activator activity	PMID:1568247^[6]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
involved_in	GO:0001952	regulation of cell-matrix adhesion	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0001937	negative regulation of endothelial cell proliferation	PMID:17404841^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0001889	liver development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0001666	response to hypoxia	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0001656	metanephros development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0001649	osteoblast differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0000165	MAPK cascade	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0048147	negative regulation of fibroblast proliferation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q04690	P	Seeded From UniProt	complete
involved_in	GO:0043547	positive regulation of GTPase activity	PMID:2121371^[7]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0031210	phosphatidylcholine binding	PMID:17187824^[8]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0008429	phosphatidylethanolamine binding	PMID:17187824^[8]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0005096	GTPase activator activity	PMID:2121371^[7]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
involved_in	GO:0043547	positive regulation of GTPase activity	PMID:16648142^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0043409	negative regulation of MAPK cascade	PMID:16648142^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0030336	negative regulation of cell migration	PMID:16648142^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0001937	negative regulation of endothelial cell proliferation	PMID:16648142^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0098793	presynapse	GO_REF:0000108	ECO:0000366	evidence based on logical inference from automatic annotation used in automatic assertion	GO:0061535	C	Seeded From UniProt	complete
involved_in	GO:2001241	positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:1900271	regulation of long-term synaptic potentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0098597	observational learning	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0061535	glutamate secretion, neurotransmission	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0061534	gamma-aminobutyric acid secretion, neurotransmission	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0048853	forebrain morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0048844	artery morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0048820	hair follicle maturation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0048745	smooth muscle tissue development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0048715	negative regulation of oligodendrocyte differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0048712	negative regulation of astrocyte differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0048593	camera-type eye morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0048485	sympathetic nervous system development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0048169	regulation of long-term neuronal synaptic plasticity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0048147	negative regulation of fibroblast proliferation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0046929	negative regulation of neurotransmitter secretion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0046580	negative regulation of Ras protein signal transduction	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0045765	regulation of angiogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0045762	positive regulation of adenylate cyclase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0045685	regulation of glial cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0045671	negative regulation of osteoclast differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0045124	regulation of bone resorption	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0043547	positive regulation of GTPase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0043525	positive regulation of neuron apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0043473	pigmentation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0043409	negative regulation of MAPK cascade	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0043408	regulation of MAPK cascade	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0043407	negative regulation of MAP kinase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0043065	positive regulation of apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0042308	negative regulation of protein import into nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0042127	regulation of cell population proliferation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0042060	wound healing	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0035021	negative regulation of Rac protein signal transduction	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0034605	cellular response to heat	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0032228	regulation of synaptic transmission, GABAergic	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0030336	negative regulation of cell migration	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0030325	adrenal gland development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0030199	collagen fibril organization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0030198	extracellular matrix organization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0030036	actin cytoskeleton organization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0022011	myelination in peripheral nervous system	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0021987	cerebral cortex development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0021915	neural tube development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0021897	forebrain astrocyte development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0021764	amygdala development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0021510	spinal cord development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0016525	negative regulation of angiogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0014065	phosphatidylinositol 3-kinase signaling	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0014044	Schwann cell development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0010468	regulation of gene expression	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0008542	visual learning	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0008285	negative regulation of cell population proliferation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0007519	skeletal muscle tissue development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0007507	heart development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0007422	peripheral nervous system development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0007420	brain development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0007406	negative regulation of neuroblast proliferation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0007265	Ras protein signal transduction	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0007154	cell communication	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0006469	negative regulation of protein kinase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	C	Seeded From UniProt	complete
enables	GO:0005096	GTPase activator activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	F	Seeded From UniProt	complete
involved_in	GO:0001953	negative regulation of cell-matrix adhesion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0001952	regulation of cell-matrix adhesion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0001938	positive regulation of endothelial cell proliferation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0001937	negative regulation of endothelial cell proliferation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0001889	liver development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0001666	response to hypoxia	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0001656	metanephros development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0001649	osteoblast differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0000165	MAPK cascade	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q04690 ensembl:ENSMUSP00000071289	P	Seeded From UniProt	complete
involved_in	GO:0007165	signal transduction	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR008936	P	Seeded From UniProt	complete
involved_in	GO:0043087	regulation of GTPase activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001936 InterPro:IPR023152	P	Seeded From UniProt	complete
part_of	GO:0005829	cytosol	Reactome:R-HSA-6802837 Reactome:R-HSA-6802834 Reactome:R-HSA-5658438 Reactome:R-HSA-5658435 Reactome:R-HSA-5658430 Reactome:R-HSA-5658424 Reactome:R-HSA-5658231	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0000165	MAPK cascade	Reactome:R-HSA-5673001	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0008289	lipid binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0446	F	Seeded From UniProt	complete
enables	GO:0005096	GTPase activator activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0343	F	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C	Seeded From UniProt	complete
part_of	GO:0005730	nucleolus	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0188	C	Seeded From UniProt	complete
edit table

Notes

References

See Help:References for how to manage references in GONUTS.

↑ Ghosh, D et al. (2010) Defining the membrane proteome of NK cells. J Mass Spectrom 45 1-25 PubMed GONUTS page
↑ Hyman, SL et al. (2007) T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning. J. Neurol. Neurosurg. Psychiatr. 78 1088-91 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 Thomas, SL & De Vries, GH (2007) Angiogenic expression profile of normal and neurofibromin-deficient human Schwann cells. Neurochem. Res. 32 1129-41 PubMed GONUTS page
↑ ^4.0 ^4.1 Basu, TN et al. (1992) Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature 356 713-5 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 ^5.3 Daston, MM et al. (1992) The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes. Neuron 8 415-28 PubMed GONUTS page
↑ Li, Y et al. (1992) Somatic mutations in the neurofibromatosis 1 gene in human tumors. Cell 69 275-81 PubMed GONUTS page
↑ ^7.0 ^7.1 Ballester, R et al. (1990) The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell 63 851-9 PubMed GONUTS page
↑ ^8.0 ^8.1 Welti, S et al. (2007) The sec14 homology module of neurofibromin binds cellular glycerophospholipids: mass spectrometry and structure of a lipid complex. J. Mol. Biol. 366 551-62 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 ^9.3 Munchhof, AM et al. (2006) Neurofibroma-associated growth factors activate a distinct signaling network to alter the function of neurofibromin-deficient endothelial cells. Hum. Mol. Genet. 15 1858-69 PubMed GONUTS page

[PMID:19946888-1] Ghosh, D et al. (2010) Defining the membrane proteome of NK cells. J Mass Spectrom 45 1-25 PubMed GONUTS page

[PMID:17299016-2] Hyman, SL et al. (2007) T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning. J. Neurol. Neurosurg. Psychiatr. 78 1088-91 PubMed GONUTS page

[PMID:17404841-3] 3.0 ^3.1 ^3.2 Thomas, SL & De Vries, GH (2007) Angiogenic expression profile of normal and neurofibromin-deficient human Schwann cells. Neurochem. Res. 32 1129-41 PubMed GONUTS page

[PMID:1570015-4] 4.0 ^4.1 Basu, TN et al. (1992) Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature 356 713-5 PubMed GONUTS page

[PMID:1550670-5] 5.0 ^5.1 ^5.2 ^5.3 Daston, MM et al. (1992) The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes. Neuron 8 415-28 PubMed GONUTS page

[PMID:1568247-6] Li, Y et al. (1992) Somatic mutations in the neurofibromatosis 1 gene in human tumors. Cell 69 275-81 PubMed GONUTS page

[PMID:2121371-7] 7.0 ^7.1 Ballester, R et al. (1990) The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell 63 851-9 PubMed GONUTS page

[PMID:17187824-8] 8.0 ^8.1 Welti, S et al. (2007) The sec14 homology module of neurofibromin binds cellular glycerophospholipids: mass spectrometry and structure of a lipid complex. J. Mol. Biol. 366 551-62 PubMed GONUTS page

[PMID:16648142-9] 9.0 ^9.1 ^9.2 ^9.3 Munchhof, AM et al. (2006) Neurofibroma-associated growth factors activate a distinct signaling network to alter the function of neurofibromin-deficient endothelial cells. Hum. Mol. Genet. 15 1858-69 PubMed GONUTS page

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

HUMAN:NF1

Contents

Annotations

Notes

References

a

b

c

d

e

f

g

h

l

m

n

o

p

r

s

v

w

Navigation menu

Personal tools

Namespaces

Variants

Views

More

Search

Navigation

Cacao

Links

Tools