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HUMAN:NF1

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Contents

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
AY796305
M38116
M38108
M38109
M38110
M38111
M38112
M38113
M38114
M38115
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
IPI IPI00220513
IPI00220514
IPI00299512
IPI00304235
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
IntAct P21359
MINT MINT-1504522
STRING P21359
PhosphoSite P21359
DMDM 548350
PRIDE P21359
Ensembl ENST00000358273
GeneID 4763
KEGG hsa:4763
UCSC uc002hge.1
uc002hgg.1
uc002hgh.1
CTD 4763
GeneCards GC17P025632
H-InvDB HIX0013698
HGNC HGNC:7765
HPA CAB004786
MIM 114500
162200
162210
193520
601321
607785
613113
neXtProt NX_P21359
Orphanet 97685
139474
79428
636
648
3444
PharmGKB PA31572
eggNOG prNOG09584
HOGENOM HBG443611
HOVERGEN HBG006486
InParanoid P21359
OMA FWEISSQ
OrthoDB EOG4MPHP6
PhylomeDB P21359
Pathway_Interaction_DB hnf3bpathway
syndecan_2_pathway
NextBio 18348
ArrayExpress P21359
Bgee P21359
CleanEx HS_NF1
Genevestigator P21359
GermOnline ENSG00000196712
GO GO:0030424
GO:0005737
GO:0030425
GO:0031235
GO:0005634
GO:0005515
GO:0005099
GO:0030036
GO:0030325
GO:0048844
GO:0048593
GO:0021987
GO:0030199
GO:0021897
GO:0048853
GO:0007507
GO:0001889
GO:0000165
GO:0001656
GO:0022011
GO:0030336
GO:0001937
GO:0043407
GO:0043409
GO:0007406
GO:0048715
GO:0042992
GO:0001649
GO:0014065
GO:0043473
GO:0045762
GO:0043525
GO:0007265
GO:0043535
GO:0045124
GO:0001952
GO:0001666
GO:0048745
GO:0021510
GO:0048485
GO:0008542
GO:0042060
InterPro IPR016024
IPR001251
IPR001936
IPR023152
IPR008936
Gene3D G3DSA:1.10.506.10
KO K08052
Pfam PF00616
SMART SM00323
SM00516
SUPFAM SSF48371
SSF48350
PROSITE PS50191
PS00509
PS50018

Annotations

Qualifier GO ID GO term name Reference Evidence Code with/from Aspect Notes Status
GO:0000165

MAPKKK cascade

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0000165

MAPKKK cascade

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0001649

osteoblast differentiation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0001649

osteoblast differentiation

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0001656

metanephros development

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0001656

metanephros development

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0001666

response to hypoxia

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0001666

response to hypoxia

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0001889

liver development

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0001889

liver development

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0001937

negative regulation of endothelial cell proliferation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0001937

negative regulation of endothelial cell proliferation

PMID:16648142[1]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

GO:0001937

negative regulation of endothelial cell proliferation

PMID:17404841[2]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

GO:0001938

positive regulation of endothelial cell proliferation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0001952

regulation of cell-matrix adhesion

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0001952

regulation of cell-matrix adhesion

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0001953

negative regulation of cell-matrix adhesion

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0005096

GTPase activator activity

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR001936

F

Seeded From UniProt

GO:0005096

GTPase activator activity

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0343

F

Seeded From UniProt

GO:0005096

GTPase activator activity

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

F

Seeded From UniProt

GO:0005099

Ras GTPase activator activity

PMID:1568247[3]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

GO:0005099

Ras GTPase activator activity

PMID:1570015[4]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

GO:0005488

binding

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR016024

F

Seeded From UniProt

GO:0005515

protein binding

PMID:11356864[5]

IPI: Inferred from Physical Interaction

UniProtKB:P34741

F

Seeded From UniProt

GO:0005515

protein binding

PMID:16374483[6]

IPI: Inferred from Physical Interaction

UniProtKB:P05067

F

Seeded From UniProt

GO:0005622

intracellular

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR001936

C

Seeded From UniProt

GO:0005622

intracellular

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR008936

C

Seeded From UniProt

GO:0005634

nucleus

PMID:1550670[7]

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:P97526

C

Seeded From UniProt

GO:0005737

cytoplasm

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

C

Seeded From UniProt

GO:0005737

cytoplasm

GO_REF:0000033

PANTHER:PTHR10194_AN1

C

Seeded From UniProt

GO:0005737

cytoplasm

PMID:1550670[7]

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:P97526

C

Seeded From UniProt

GO:0006469

negative regulation of protein kinase activity

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0006469

negative regulation of protein kinase activity

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0007154

cell communication

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0007154

cell communication

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0007165

signal transduction

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR008936

P

Seeded From UniProt

GO:0007265

Ras protein signal transduction

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0007265

Ras protein signal transduction

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0007406

negative regulation of neuroblast proliferation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0007406

negative regulation of neuroblast proliferation

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0007420

brain development

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0007420

brain development

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0007422

peripheral nervous system development

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0007422

peripheral nervous system development

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0007507

heart development

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0007507

heart development

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0007519

skeletal muscle tissue development

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0008285

negative regulation of cell proliferation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0008542

visual learning

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0008542

visual learning

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0014044

Schwann cell development

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0014044

Schwann cell development

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0014065

phosphatidylinositol 3-kinase cascade

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0014065

phosphatidylinositol 3-kinase cascade

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0016525

negative regulation of angiogenesis

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0021510

spinal cord development

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0021510

spinal cord development

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0021897

forebrain astrocyte development

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0021897

forebrain astrocyte development

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0021915

neural tube development

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0021987

cerebral cortex development

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0021987

cerebral cortex development

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0022011

myelination in peripheral nervous system

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0022011

myelination in peripheral nervous system

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0030036

actin cytoskeleton organization

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0030036

actin cytoskeleton organization

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0030198

extracellular matrix organization

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0030198

extracellular matrix organization

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0030199

collagen fibril organization

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0030199

collagen fibril organization

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0030325

adrenal gland development

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0030325

adrenal gland development

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0030336

negative regulation of cell migration

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0030336

negative regulation of cell migration

PMID:16648142[1]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

GO:0030424

axon

PMID:1550670[7]

IDA: Inferred from Direct Assay

C

Seeded From UniProt

GO:0030425

dendrite

PMID:1550670[7]

IDA: Inferred from Direct Assay

C

Seeded From UniProt

GO:0031235

intrinsic to internal side of plasma membrane

GO_REF:0000033

PANTHER:PTHR10194_AN1

C

Seeded From UniProt

GO:0032228

regulation of synaptic transmission, GABAergic

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0032318

regulation of Ras GTPase activity

PMID:1570015[4]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

GO:0032320

positive regulation of Ras GTPase activity

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0032320

positive regulation of Ras GTPase activity

PMID:1568247[3]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

GO:0032320

positive regulation of Ras GTPase activity

PMID:1570015[4]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

GO:0032320

positive regulation of Ras GTPase activity

PMID:16648142[1]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

GO:0035021

negative regulation of Rac protein signal transduction

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0042060

wound healing

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0042060

wound healing

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0042127

regulation of cell proliferation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0042992

negative regulation of transcription factor import into nucleus

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0042992

negative regulation of transcription factor import into nucleus

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0043065

positive regulation of apoptosis

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0043065

positive regulation of apoptosis

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0043407

negative regulation of MAP kinase activity

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0043407

negative regulation of MAP kinase activity

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0043409

negative regulation of MAPKKK cascade

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0043409

negative regulation of MAPKKK cascade

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0043409

negative regulation of MAPKKK cascade

PMID:16648142[1]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

GO:0043473

pigmentation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0043473

pigmentation

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0043525

positive regulation of neuron apoptosis

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0043525

positive regulation of neuron apoptosis

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0043535

regulation of blood vessel endothelial cell migration

PMID:17404841[2]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

GO:0043547

positive regulation of GTPase activity

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR001936

P

Seeded From UniProt

GO:0043547

positive regulation of GTPase activity

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0343

P

Seeded From UniProt

GO:0043547

positive regulation of GTPase activity

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0045124

regulation of bone resorption

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0045124

regulation of bone resorption

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0045671

negative regulation of osteoclast differentiation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0045685

regulation of glial cell differentiation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0045685

regulation of glial cell differentiation

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0045762

positive regulation of adenylate cyclase activity

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0045762

positive regulation of adenylate cyclase activity

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0045765

regulation of angiogenesis

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0045765

regulation of angiogenesis

PMID:17404841[2]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

GO:0046580

negative regulation of Ras protein signal transduction

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0046580

negative regulation of Ras protein signal transduction

GO_REF:0000033

PANTHER:PTHR10194_AN1

P

Seeded From UniProt

GO:0046929

negative regulation of neurotransmitter secretion

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0048147

negative regulation of fibroblast proliferation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0048169

regulation of long-term neuronal synaptic plasticity

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0048485

sympathetic nervous system development

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0048485

sympathetic nervous system development

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0048593

camera-type eye morphogenesis

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0048593

camera-type eye morphogenesis

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0048712

negative regulation of astrocyte differentiation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0048715

negative regulation of oligodendrocyte differentiation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0048715

negative regulation of oligodendrocyte differentiation

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0048745

smooth muscle tissue development

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0048745

smooth muscle tissue development

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0048844

artery morphogenesis

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0048844

artery morphogenesis

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0048853

forebrain morphogenesis

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000071289

P

Seeded From UniProt

GO:0048853

forebrain morphogenesis

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q04690

P

Seeded From UniProt

GO:0050890

cognition

PMID:17299016[8]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

GO:0051056

regulation of small GTPase mediated signal transduction

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR001936

P

Seeded From UniProt


Notes

References

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

  1. ↑ 1.0 1.1 1.2 1.3 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
  2. ↑ 2.0 2.1 2.2 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
  3. ↑ 3.0 3.1 Li Y et al. (1992) Somatic mutations in the neurofibromatosis 1 gene in human tumors. Cell 69: 275-81 PubMed GONUTS page
  4. ↑ 4.0 4.1 4.2 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. ↑ Hsueh YP et al. (2001) Bipartite interaction between neurofibromatosis type I protein (neurofibromin) and syndecan transmembrane heparan sulfate proteoglycans. J Neurosci 21: 3764-70 PubMed GONUTS page
  6. ↑ De Schepper S et al. (2006) Neurofibromatosis type 1 protein and amyloid precursor protein interact in normal human melanocytes and colocalize with melanosomes. J Invest Dermatol 126: 653-9 PubMed GONUTS page
  7. ↑ 7.0 7.1 7.2 7.3 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
  8. ↑ Hyman SL et al. (2007) T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning. J Neurol Neurosurg Psychiatry 78: 1088-91 PubMed GONUTS page
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