Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3984
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol LIMK1   Gene   UCSC   Ensembl
Aliases LIMK, LIMK-1
Gene name LIM domain kinase 1
Alternate names LIM domain kinase 1, LIM motif-containing protein kinase,
Gene location 7q11.23 (74083776: 74122524)     Exons: 17     NC_000007.14
Gene summary(Entrez) There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. LIMK1 is a serine/threonine kinase that regulates actin polymerization via phosphorylation and inactivation of the actin binding factor cofilin. This protein is ubiquitously expressed during development and plays a role in many cellular processes associated with cytoskeletal structure. This protein also stimulates axon growth and may play a role in brain development. LIMK1 hemizygosity is implicated in the impaired visuospatial constructive cognition of Williams syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Feb 2011]
OMIM 601329

Protein Summary

Protein general information P53667  

Name: LIM domain kinase 1 (LIMK 1) (EC 2.7.11.1)

Length: 647  Mass: 72,585

Tissue specificity: Highest expression in both adult and fetal nervous system. Detected ubiquitously throughout the different regions of adult brain, with highest levels in the cerebral cortex. Expressed to a lesser extent in heart and skeletal muscle.

Sequence MRLTLLCCTWREERMGEEGSELPVCASCGQRIYDGQYLQALNADWHADCFRCCDCSASLSHQYYEKDGQLFCKKD
YWARYGESCHGCSEQITKGLVMVAGELKYHPECFICLTCGTFIGDGDTYTLVEHSKLYCGHCYYQTVVTPVIEQI
LPDSPGSHLPHTVTLVSIPASSHGKRGLSVSIDPPHGPPGCGTEHSHTVRVQGVDPGCMSPDVKNSIHVGDRILE
INGTPIRNVPLDEIDLLIQETSRLLQLTLEHDPHDTLGHGLGPETSPLSSPAYTPSGEAGSSARQKPVLRSCSID
RSPGAGSLGSPASQRKDLGRSESLRVVCRPHRIFRPSDLIHGEVLGKGCFGQAIKVTHRETGEVMVMKELIRFDE
ETQRTFLKEVKVMRCLEHPNVLKFIGVLYKDKRLNFITEYIKGGTLRGIIKSMDSQYPWSQRVSFAKDIASGMAY
LHSMNIIHRDLNSHNCLVRENKNVVVADFGLARLMVDEKTQPEGLRSLKKPDRKKRYTVVGNPYWMAPEMINGRS
YDEKVDVFSFGIVLCEIIGRVNADPDYLPRTMDFGLNVRGFLDRYCPPNCPPSFFPITVRCCDLDPEKRPSFVKL
EHWLETLRMHLAGHLPLGPQLEQLDRGFWETYRRGESGLPAHPEVPD
Structural information
Protein Domains
LIM (25-75)
LIM (84-137)
PDZ. (165-258)
Protein (339-604)
Interpro:  IPR011009 IPR001478 IPR000719 IPR017441 IPR001245 IPR001781
Prosite:   PS00478 PS50023 PS50106 PS00107 PS50011

Pfam:  
PF00412 PF00595 PF07714

PDB:  
3S95 5HVJ 5HVK 5L6W
PDBsum:   3S95 5HVJ 5HVK 5L6W

DIP:  
31605
MINT:   2833166
STRING:   ENSP00000336740;
Other Databases GeneCards:  LIMK1;  Malacards:  LIMK1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004672 protein kinase activity
NAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005794 Golgi apparatus
IEA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005925 focal adhesion
IEA cellular_component
GO:0006468 protein phosphorylation
IDA biological_process
GO:0006468 protein phosphorylation
IMP biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007266 Rho protein signal transd
uction
TAS biological_process
GO:0007399 nervous system developmen
t
TAS biological_process
GO:0008270 zinc ion binding
IEA molecular_function
GO:0016020 membrane
IEA cellular_component
GO:0030036 actin cytoskeleton organi
zation
TAS biological_process
GO:0031072 heat shock protein bindin
g
IDA molecular_function
GO:0032233 positive regulation of ac
tin filament bundle assem
bly
IDA biological_process
GO:0038096 Fc-gamma receptor signali
ng pathway involved in ph
agocytosis
TAS biological_process
GO:0043005 neuron projection
ISS cellular_component
GO:0044295 axonal growth cone
IEA cellular_component
GO:0045773 positive regulation of ax
on extension
ISS biological_process
GO:0046982 protein heterodimerizatio
n activity
IEA molecular_function
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0051444 negative regulation of ub
iquitin-protein transfera
se activity
IDA biological_process
GO:0051496 positive regulation of st
ress fiber assembly
IEA biological_process
GO:0000166 nucleotide binding
IEA molecular_function
GO:0004672 protein kinase activity
IEA molecular_function
GO:0004672 protein kinase activity
NAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
IEA molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005794 Golgi apparatus
IEA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005925 focal adhesion
IEA cellular_component
GO:0006468 protein phosphorylation
IEA biological_process
GO:0006468 protein phosphorylation
IDA biological_process
GO:0006468 protein phosphorylation
IMP biological_process
GO:0006468 protein phosphorylation
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007266 Rho protein signal transd
uction
TAS biological_process
GO:0007399 nervous system developmen
t
TAS biological_process
GO:0008270 zinc ion binding
IEA molecular_function
GO:0016020 membrane
IEA cellular_component
GO:0016301 kinase activity
IEA molecular_function
GO:0016310 phosphorylation
IEA biological_process
GO:0016740 transferase activity
IEA molecular_function
GO:0030036 actin cytoskeleton organi
zation
TAS biological_process
GO:0031072 heat shock protein bindin
g
IDA molecular_function
GO:0032233 positive regulation of ac
tin filament bundle assem
bly
IDA biological_process
GO:0038096 Fc-gamma receptor signali
ng pathway involved in ph
agocytosis
TAS biological_process
GO:0043005 neuron projection
IEA cellular_component
GO:0043005 neuron projection
ISS cellular_component
GO:0044295 axonal growth cone
IEA cellular_component
GO:0045773 positive regulation of ax
on extension
IEA biological_process
GO:0045773 positive regulation of ax
on extension
ISS biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0046982 protein heterodimerizatio
n activity
IEA molecular_function
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0051444 negative regulation of ub
iquitin-protein transfera
se activity
IDA biological_process
GO:0051496 positive regulation of st
ress fiber assembly
IEA biological_process
GO:0004672 protein kinase activity
NAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0006468 protein phosphorylation
IDA biological_process
GO:0006468 protein phosphorylation
IMP biological_process
GO:0006468 protein phosphorylation
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007266 Rho protein signal transd
uction
TAS biological_process
GO:0007399 nervous system developmen
t
TAS biological_process
GO:0030036 actin cytoskeleton organi
zation
TAS biological_process
GO:0031072 heat shock protein bindin
g
IDA molecular_function
GO:0032233 positive regulation of ac
tin filament bundle assem
bly
IDA biological_process
GO:0038096 Fc-gamma receptor signali
ng pathway involved in ph
agocytosis
TAS biological_process
GO:0043005 neuron projection
ISS cellular_component
GO:0045773 positive regulation of ax
on extension
ISS biological_process
GO:0051444 negative regulation of ub
iquitin-protein transfera
se activity
IDA biological_process

KEGG pathways

hsa04810  Regulation of actin cytoskeleton
hsa04360  Axon guidance
hsa04666  Fc gamma R-mediated phagocytosis

Diseases

Associated diseases References
Brain hemorrhage PMID: 16611674
Endometriosis PMID: 25529997
Metabolic syndrome PMID: 19056482
Endometriosis INFBASE25529997
Williams-Beuren syndrome KEGG: H01439

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25529997 Endometrio
sis

60 (30 patients
with endometri
osis, 30 patien
ts without endo
metriosis)

Show abstract