Gene: ENSG00000165699 (Homo sapiens)

Overview top

Gene Identifier
ENSG00000165699
Transcript Identifier
ENST00000440111
Gene Type
Coding gene
Location
9 : 132896235-132928872 : negative

Family Information

Homologous gene family
HOM03P048693
(2 genes in 2 species)
specific family

Descriptions

gene_descr
tuberous sclerosis 1

Identifiers

Type Value
pidENSP00000394524
HGNC12362
UniprotQ92574
UniprotX5D9D2

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Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0001822
IEA
Genome Projectkidney development
GO:0001843
IEA
Genome Projectneural tube closure
GO:0001952
IMP
Genome Projectregulation of cell-matrix adhesion
GO:0006367
TAS
Genome Projecttranscription initiation from RNA polymerase II promoter
GO:0006407
IMP
Genome ProjectrRNA export from nucleus
GO:0006417
IDA
Genome Projectregulation of translation
GO:0006813
IEA
Genome Projectpotassium ion transport
GO:0007050
TAS
Genome Projectcell cycle arrest
GO:0007160
IMP
Genome Projectcell-matrix adhesion
GO:0007399
IEA
Genome Projectnervous system development
GO:0008285
IMP
Genome Projectnegative regulation of cell proliferation
GO:0008286
TAS
Genome Projectinsulin receptor signaling pathway
GO:0010467
TAS
Genome Projectgene expression
GO:0017148
IMP
Genome Projectnegative regulation of translation
GO:0021766
IEA
Genome Projecthippocampus development
GO:0021987
IEA
Genome Projectcerebral cortex development
GO:0030030
IEA
Genome Projectcell projection organization
GO:0032007
IMP
Genome Projectnegative regulation of TOR signaling
GO:0032868
IDA
Genome Projectresponse to insulin
GO:0032956
IEA
Genome Projectregulation of actin cytoskeleton organization
GO:0042552
IEA
Genome Projectmyelination
GO:0043666
IMP
Genome Projectregulation of phosphoprotein phosphatase activity
GO:0045792
IEA
Genome Projectnegative regulation of cell size
GO:0045859
IEA
Genome Projectregulation of protein kinase activity
GO:0046323
IEA
Genome Projectglucose import
GO:0046627
IBA
Genome Projectnegative regulation of insulin receptor signaling pathway
GO:0050808
IEA
Genome Projectsynapse organization
GO:0050821
IDA
Genome Projectprotein stabilization
GO:0051291
IEA
Genome Projectprotein heterooligomerization
GO:0051492
IDA
IEA
Genome Projectregulation of stress fiber assembly
GO:0051726
IBA
Genome Projectregulation of cell cycle
GO:0051893
IEA
Genome Projectregulation of focal adhesion assembly
GO:0051894
IDA
Genome Projectpositive regulation of focal adhesion assembly
GO:0055007
IEA
Genome Projectcardiac muscle cell differentiation
GO:0090630
IDA
Genome Projectactivation of GTPase activity

Molecular Function

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0005515
IPI
Genome Projectprotein binding
GO:0030695
IBA
IEA
Genome ProjectGTPase regulator activity
GO:0032794
IEA
Genome ProjectGTPase activating protein binding
GO:0047485
IPI
IEA
Genome Projectprotein N-terminus binding
GO:0051087
IPI
Genome Projectchaperone binding

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0005737
IDA
IEA
Genome Projectcytoplasm
GO:0005829
IDA
IEA
Genome Projectcytosol
GO:0005856
IEA
Genome Projectcytoskeleton
GO:0005886
IDA
TAS
Genome Projectplasma membrane
GO:0005938
IDA
Genome Projectcell cortex
GO:0016020
IDA
IEA
Genome Projectmembrane
GO:0030027
IDA
Genome Projectlamellipodium
GO:0030426
IEA
Genome Projectgrowth cone
GO:0033596
IDA
Genome ProjectTSC1-TSC2 complex
GO:0043231
IEA
Genome Projectintracellular membrane-bounded organelle
GO:0043234
IDA
IEA
Genome Projectprotein complex
GO:0005884
IDA
Genome Projectactin filament

Color Legend

Experimental Evidence
Computational Reviewed Evidence
Electronic Evidence
GO Sources:   Primary     Orthology     Homology  
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InterPro Description
IPR007483Hamartin

No MapMan annotations defined for this gene.