Gene: ENSG00000196712 (Homo sapiens)

Overview top

Gene Identifier
ENSG00000196712
Transcript Identifier
ENST00000358273
Gene Type
Coding gene
Location
17 : 31095310-31374155 : positive

Family Information

Homologous gene family
HOM03P013079
(6 genes in 5 species)
specific family

Descriptions

gene_descr
neurofibromin 1

Identifiers

Type Value
pidENSP00000351015
HGNC7765
UniprotP21359

Toolbox

Explore

Create

View

Browse

 

Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0000165
ISS
IEA
Genome ProjectMAPK cascade
GO:0001649
ISS
IEA
Genome Projectosteoblast differentiation
GO:0001656
ISS
IEA
Genome Projectmetanephros development
GO:0001666
ISS
IEA
Genome Projectresponse to hypoxia
GO:0001889
ISS
IEA
Genome Projectliver development
GO:0001937
IMP
Genome Projectnegative regulation of endothelial cell proliferation
GO:0001938
IEA
Genome Projectpositive regulation of endothelial cell proliferation
GO:0001952
ISS
IEA
Genome Projectregulation of cell-matrix adhesion
GO:0001953
IEA
Genome Projectnegative regulation of cell-matrix adhesion
GO:0006469
ISS
IEA
Genome Projectnegative regulation of protein kinase activity
GO:0007154
ISS
IEA
Genome Projectcell communication
GO:0007165
IEA
Genome Projectsignal transduction
GO:0007265
ISS
IEA
Genome ProjectRas protein signal transduction
GO:0007406
ISS
IEA
Genome Projectnegative regulation of neuroblast proliferation
GO:0007420
ISS
IEA
Genome Projectbrain development
GO:0007422
ISS
IEA
Genome Projectperipheral nervous system development
GO:0007507
ISS
IEA
Genome Projectheart development
GO:0007519
IEA
Genome Projectskeletal muscle tissue development
GO:0008285
IEA
Genome Projectnegative regulation of cell proliferation
GO:0008542
ISS
IEA
Genome Projectvisual learning
GO:0008625
IEA
Genome Projectextrinsic apoptotic signaling pathway via death domain receptors
GO:0014044
ISS
IEA
Genome ProjectSchwann cell development
GO:0014065
ISS
IEA
Genome Projectphosphatidylinositol 3-kinase signaling
GO:0016525
IEA
Genome Projectnegative regulation of angiogenesis
GO:0021510
ISS
IEA
Genome Projectspinal cord development
GO:0021897
ISS
IEA
Genome Projectforebrain astrocyte development
GO:0021915
IEA
Genome Projectneural tube development
GO:0021987
ISS
IEA
Genome Projectcerebral cortex development
GO:0022011
ISS
IEA
Genome Projectmyelination in peripheral nervous system
GO:0030036
ISS
IEA
Genome Projectactin cytoskeleton organization
GO:0030198
ISS
IEA
Genome Projectextracellular matrix organization
GO:0030199
ISS
IEA
Genome Projectcollagen fibril organization
GO:0030325
ISS
IEA
Genome Projectadrenal gland development
GO:0030336
IMP
Genome Projectnegative regulation of cell migration
GO:0032228
IEA
Genome Projectregulation of synaptic transmission, GABAergic
GO:0034605
IEA
Genome Projectcellular response to heat
GO:0035021
IEA
Genome Projectnegative regulation of Rac protein signal transduction
GO:0042060
ISS
IEA
Genome Projectwound healing
GO:0042127
IEA
Genome Projectregulation of cell proliferation
GO:0042992
ISS
IEA
Genome Projectnegative regulation of transcription factor import into nucleus
GO:0043065
ISS
IEA
Genome Projectpositive regulation of apoptotic process
GO:0043087
IMP
IEA
Genome Projectregulation of GTPase activity
GO:0043407
ISS
IEA
Genome Projectnegative regulation of MAP kinase activity
GO:0043409
IMP
ISS
Genome Projectnegative regulation of MAPK cascade
GO:0043473
ISS
IEA
Genome Projectpigmentation
GO:0043525
ISS
IEA
Genome Projectpositive regulation of neuron apoptotic process
GO:0043535
IMP
Genome Projectregulation of blood vessel endothelial cell migration
GO:0043547
IDA, IMP
ISS
IEA
Genome Projectpositive regulation of GTPase activity
GO:0045124
ISS
IEA
Genome Projectregulation of bone resorption
GO:0045671
IEA
Genome Projectnegative regulation of osteoclast differentiation
GO:0045685
ISS
IEA
Genome Projectregulation of glial cell differentiation
GO:0045762
ISS
IEA
Genome Projectpositive regulation of adenylate cyclase activity
GO:0045765
IMP
Genome Projectregulation of angiogenesis
GO:0046580
IBA
IEA
Genome Projectnegative regulation of Ras protein signal transduction
GO:0046929
IEA
Genome Projectnegative regulation of neurotransmitter secretion
GO:0048147
ISS
IEA
Genome Projectnegative regulation of fibroblast proliferation
GO:0048169
IEA
Genome Projectregulation of long-term neuronal synaptic plasticity
GO:0048485
ISS
IEA
Genome Projectsympathetic nervous system development
GO:0048593
ISS
IEA
Genome Projectcamera-type eye morphogenesis
GO:0048712
IEA
Genome Projectnegative regulation of astrocyte differentiation
GO:0048715
ISS
IEA
Genome Projectnegative regulation of oligodendrocyte differentiation
GO:0048745
ISS
IEA
Genome Projectsmooth muscle tissue development
GO:0048844
ISS
IEA
Genome Projectartery morphogenesis
GO:0048853
ISS
IEA
Genome Projectforebrain morphogenesis
GO:0050890
IMP
Genome Projectcognition
GO:1902043
IEA
Genome Projectpositive regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:2001241
IEA
Genome Projectpositive regulation of extrinsic apoptotic signaling pathway in absence of ligand

Molecular Function

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0005096
IDA
IEA
Genome ProjectGTPase activator activity
GO:0005515
IPI
Genome Projectprotein binding
GO:0008289
IEA
Genome Projectlipid binding
GO:0008429
IDA
Genome Projectphosphatidylethanolamine binding
GO:0031210
IDA
Genome Projectphosphatidylcholine binding

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0005634
ISS
IEA
Genome Projectnucleus
GO:0005730
IEA
Genome Projectnucleolus
GO:0005737
ISS, IBA
IEA
Genome Projectcytoplasm
GO:0016020
IDA
Genome Projectmembrane
GO:0030424
IDA
Genome Projectaxon
GO:0030425
IDA
Genome Projectdendrite
GO:0031235
IBA
Genome Projectintrinsic component of the cytoplasmic side of the plasma membrane

Color Legend

Experimental Evidence
Computational Reviewed Evidence
Electronic Evidence
GO Sources:   Primary     Orthology     Homology  
Show redundant parents:  
 
InterPro Description
IPR001251CRAL-TRIO lipid binding domain
IPR001936Ras GTPase-activating protein
IPR008936Rho GTPase activation protein
IPR011989Armadillo-like helical
IPR016024Armadillo-type fold
IPR023152Ras GTPase-activating protein, conserved site
IPR028553Neurofibromin

No MapMan annotations defined for this gene.