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Gene id 60
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol ACTB   Gene   UCSC   Ensembl
Aliases BRWS1, PS1TP5BP1
Gene name actin beta
Alternate names actin, cytoplasmic 1, PS1TP5-binding protein 1, beta cytoskeletal actin,
Gene location 7p22.1 (5530600: 5527147)     Exons: 6     NC_000007.14
Gene summary(Entrez) This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, and integrity. This actin is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins. [provided by RefSeq, Jul 2008]
OMIM 102630

SNPs

 rs1131445

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000677.2   g.81309441T>A
CM000677.2   g.81309441T>C
NC_000015.10   g.81309441T>A
NC_000015.10   g.81309441T>C
NC_000015.9   g.81601782T>C
NG_029933.1   g.117564T>A
NG_029933.1   g.117564T>C
NM_001172128.1   c.*643T>A
NM_001172128.1   c.*643T>C
NM_001352684.1   c.*643T>A
NM_001352684.1   c.*643T>C
NM_001352685.1   c.*643T>A
NM_001352685.1   c.*643T>C
NM_001352686.1   c.*643T>A
NM_001352686.1   c.*643T>C
NM_004513.5   c.*643T>A
NM_004513.5   c.*643T>C
NM_172217.3   c.*643T>C
NM_172217.4   c.*643T>A
NM_172217.4   c.*643T>C
NR_148035.1   n.4854T>A
NR_148035.1   n.4854T>C
XR_001751252.1   n.5311T>A
XR_001751252.1   n.5311T>C
XR_001751253.1   n.5308T>A
XR_001751253.1   n.5308T>C
XR_001751254.1   n.5361T>A
XR_001751254.1   n.5361T>C
XR_001751255.1   n.7440T>A
XR_001751255.1   n.7440T>C
XR_001751257.1   n.7153T>A
XR_001751257.1   n.7153T>C
XR_001751258.1   n.5207T>A
XR_001751258.1   n.5207T>C
XR_931805.2   n.5364T>A
XR_931805.2   n.5364T>C
rs11556218

Strand:    Allele origin:   Allele change: G/T   Mutation type: snp

CM000677.2   g.81305928T>G
NC_000015.10   g.81305928T>G
NC_000015.9   g.81598269T>G
NG_029933.1   g.114051T>G
NM_001172128.1   c.3441T>G
NM_001352684.1   c.1611T>G
NM_001352685.1   c.2931T>G
NM_001352686.1   c.3594T>G
NM_004513.5   c.1338T>G
NM_172217.3   c.3441T>G
NM_172217.4   c.3441T>G
NP_001165599.1   p.Asn1147Lys
NP_001339613.1   p.Asn537Lys
NP_001339614.1   p.Asn977Lys
NP_001339615.1   p.Asn1198Lys
NP_004504.3   p.Asn446Lys
NP_757366.2   p.Asn1147Lys
NR_148035.1   n.3653T>G
XP_005254399.1   p.Asn1194Lys
XP_005254400.1   p.Asn1194Lys
XP_005254401.1   p.Asn537Lys
XP_005254402.1   p.Asn537Lys
XP_005254403.1   p.Asn446Lys
XP_011519821.1   p.Asn1147Lys
XP_011519822.1   p.Asn1147Lys
XP_016877629.1   p.Asn1147Lys
XP_016877630.1   p.Asn1147Lys
XP_016877631.1   p.Asn1147Lys
XP_016877632.1   p.Asn994Lys
XP_016877633.1   p.Asn977Lys
XP_016877635.1   p.Asn535Lys
XR_001751252.1   n.4110T>G
XR_001751253.1   n.4110T>G
XR_001751254.1   n.4163T>G
XR_001751255.1   n.6242T>G
XR_001751257.1   n.3893T>G
XR_001751258.1   n.4006T>G
XR_931805.2   n.4163T>G
rs12082745

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000663.2   g.6104220G>A
NC_000001.10   g.6164280G>A
NC_000001.11   g.6104220G>A
NM_015557.2   c.*1254C>T
XP_005263606.1   p.Pro209Leu
rs12758341

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000663.2   g.6101899G>A
NC_000001.10   g.6161959G>A
NC_000001.11   g.6101899G>A
NG_047091.1   g.114602G>A
NM_015557.2   c.*3575C>T
rs17436816

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000663.2   g.6144101G>A
NC_000001.10   g.6204161G>A
NC_000001.11   g.6144101G>A
NM_015557.2   c.1857C>T
NP_056372.1   p.Tyr619=
rs1883603

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000663.2   g.6152881G>A
NC_000001.10   g.6212941G>A
NC_000001.11   g.6152881G>A
NM_015557.2   c.746-345C>T
rs2092507

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000663.2   g.6104348G>A
NC_000001.10   g.6164408G>A
NC_000001.11   g.6104348G>A
NM_015557.2   c.*1126C>T
XP_005263606.1   p.Gly166=
rs228953

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000684.2   g.37135396G>A
NC_000022.10   g.37531436G>A
NC_000022.11   g.37135396G>A
NM_000878.3   c.750C>T
NM_000878.4   c.750C>T
NM_001346222.1   c.750C>T
NM_001346223.1   c.750C>T
NP_000869.1   p.Gly250=
NP_001333151.1   p.Gly250=
NP_001333152.1   p.Gly250=
XP_005261656.1   p.Gly250=
rs4072111

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000677.2   g.81285798C>T
NC_000015.10   g.81285798C>T
NC_000015.9   g.81578139C>T
NG_029933.1   g.93921C>T
NM_001172128.1   c.1300C>T
NM_001352684.1   c.-720C>T
NM_001352685.1   c.790C>T
NM_001352686.1   c.1453C>T
NM_172217.3   c.1300C>T
NM_172217.4   c.1300C>T
NP_001165599.1   p.Pro434Ser
NP_001339614.1   p.Pro264Ser
NP_001339615.1   p.Pro485Ser
NP_757366.2   p.Pro434Ser
NR_148035.1   n.1676C>T
XP_005254399.1   p.Pro481Ser
XP_005254400.1   p.Pro481Ser
XP_011519821.1   p.Pro434Ser
XP_011519822.1   p.Pro434Ser
XP_016877629.1   p.Pro434Ser
XP_016877630.1   p.Pro434Ser
XP_016877631.1   p.Pro434Ser
XP_016877632.1   p.Pro281Ser
XP_016877633.1   p.Pro264Ser
XP_016877634.1   p.Pro434Ser
XR_001751252.1   n.1944C>T
XR_001751253.1   n.1944C>T
XR_001751254.1   n.1946C>T
XR_001751255.1   n.2505C>T
XR_001751256.1   n.2505C>T
XR_001751257.1   n.1676C>T
XR_001751258.1   n.1676C>T
XR_931805.2   n.1946C>T
rs4778889

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000677.2   g.81296654T>C
NC_000015.10   g.81296654T>C
NC_000015.9   g.81588995T>C
NG_029933.1   g.104777T>C
NM_001172128.1   c.1903-274T>C
NM_001352684.1   c.73-274T>C
NM_001352685.1   c.1393-274T>C
NM_001352686.1   c.2056-274T>C
NM_004513.5   c.-475T>C
NM_172217.3   c.1903-274T>C
NM_172217.4   c.1903-274T>C
NR_148035.1   n.2279-274T>C
XR_001751252.1   n.2547-274T>C
XR_001751253.1   n.2547-274T>C
XR_001751254.1   n.2549-274T>C
XR_001751255.1   n.4430T>C
XR_001751256.1   n.3297-274T>C
XR_001751257.1   n.2279-274T>C
XR_001751258.1   n.2468-274T>C
XR_931805.2   n.2549-274T>C
rs549908

Strand:    Allele origin:   Allele change: A/G/T   Mutation type: snp

CM000673.2   g.112150193T>A
CM000673.2   g.112150193T>G
NC_000011.10   g.112150193T>A
NC_000011.10   g.112150193T>G
NC_000011.9   g.112020916T>A
NC_000011.9   g.112020916T>G
NG_028143.1   g.18925A>C
NG_028143.1   g.18925A>T
NM_001243211.1   c.93A>C
NM_001243211.1   c.93A>T
NM_001562.3   c.105A>C
NM_001562.3   c.105A>T
NP_001230140.1   p.Ser31=
NP_001553.1   p.Ser35=
XP_011541107.1   p.Ser31=
XP_011541108.1   p.Ser35=
rs9434741

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000663.2   g.6157799A>G
NC_000001.10   g.6217859A>G
NC_000001.11   g.6157799A>G
NM_015557.2   c.387+1537T>C

Protein Summary
Protein general information P60709  

Name: Actin, cytoplasmic 1 (Beta actin) [Cleaved into: Actin, cytoplasmic 1, N terminally processed]

Length: 375  Mass: 41,737

Sequence MDDDIAALVVDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGI
VTNWDDMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVLSLYASGRTTG
IVMDSGDGVTHTVPIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQ
EMATAASSSSLEKSYELPDGQVITIGNERFRCPEALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLS
GGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDESGPSIVHRKCF
Structural information
Interpro:  IPR004000 IPR020902 IPR004001
Prosite:   PS00406 PS00432 PS01132

Pfam:  		 PF00022

PDB:  		 3BYH 3D2U 3J82 3LUE
PDBsum:   3BYH 3D2U 3J82 3LUE

DIP:  		 29686
MINT:   220312
STRING:   ENSP00000349960;
Other Databases GeneCards:  ACTB;  Malacards:  ACTB

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000790 nuclear chromatin
 IDA cellular_component
GO:0001895 retina homeostasis
 IEP biological_process
GO:0005200 structural constituent of
cytoskeleton
 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: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:0005615 extracellular space
 IDA cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005737 cytoplasm
 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: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: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: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:0005856 cytoskeleton
 ISS cellular_component
GO:0005856 cytoskeleton
 TAS cellular_component
GO:0005886 plasma membrane
 ISS cellular_component
GO:0005886 plasma membrane
 ISS cellular_component
GO:0005886 plasma membrane
 ISS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005925 focal adhesion
 IDA cellular_component
GO:0006928 movement of cell or subce
llular component
 TAS biological_process
GO:0006928 movement of cell or subce
llular component
 TAS biological_process
GO:0016020 membrane
 IDA cellular_component
GO:0019894 kinesin binding
 IPI molecular_function
GO:0021762 substantia nigra developm
ent
 IEP biological_process
GO:0030529 intracellular ribonucleop
rotein complex
 IDA cellular_component
GO:0030957 Tat protein binding
 IPI molecular_function
GO:0034329 cell junction assembly
 TAS biological_process
GO:0035267 NuA4 histone acetyltransf
erase complex
 IDA cellular_component
GO:0036464 cytoplasmic ribonucleopro
tein granule
 IDA cellular_component
GO:0038096 Fc-gamma receptor signali
ng pathway involved in ph
agocytosis
 TAS biological_process
GO:0042802 identical protein binding
 IPI molecular_function
GO:0042802 identical protein binding
 IPI molecular_function
GO:0042802 identical protein binding
 IPI molecular_function
GO:0043044 ATP-dependent chromatin r
emodeling
 IDA biological_process
GO:0043234 protein complex
 IDA cellular_component
GO:0045815 positive regulation of ge
ne expression, epigenetic
 TAS biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
 TAS biological_process
GO:0048013 ephrin receptor signaling
pathway
 TAS biological_process
GO:0050998 nitric-oxide synthase bin
ding
 IPI molecular_function
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070527 platelet aggregation
 IMP biological_process
GO:0070688 MLL5-L complex
 IDA cellular_component
GO:0072562 blood microparticle
 IDA cellular_component
GO:0097433 dense body
 ISS cellular_component
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
 IDA molecular_function
GO:0000980 RNA polymerase II distal
enhancer sequence-specifi
c DNA binding
 IDA molecular_function
GO:0031492 nucleosomal DNA binding
 IDA molecular_function
GO:0000166 nucleotide binding
 IEA molecular_function
GO:0000790 nuclear chromatin
 IDA cellular_component
GO:0001895 retina homeostasis
 IEP biological_process
GO:0005200 structural constituent of
cytoskeleton
 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: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:0005615 extracellular space
 IDA cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 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: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: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: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:0005856 cytoskeleton
 ISS cellular_component
GO:0005856 cytoskeleton
 IEA cellular_component
GO:0005856 cytoskeleton
 IEA cellular_component
GO:0005856 cytoskeleton
 TAS cellular_component
GO:0005886 plasma membrane
 ISS cellular_component
GO:0005886 plasma membrane
 ISS cellular_component
GO:0005886 plasma membrane
 ISS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005925 focal adhesion
 IDA cellular_component
GO:0006928 movement of cell or subce
llular component
 TAS biological_process
GO:0006928 movement of cell or subce
llular component
 TAS biological_process
GO:0016020 membrane
 IDA cellular_component
GO:0019894 kinesin binding
 IPI molecular_function
GO:0021762 substantia nigra developm
ent
 IEP biological_process
GO:0030529 intracellular ribonucleop
rotein complex
 IDA cellular_component
GO:0030957 Tat protein binding
 IPI molecular_function
GO:0034329 cell junction assembly
 TAS biological_process
GO:0035267 NuA4 histone acetyltransf
erase complex
 IDA cellular_component
GO:0036464 cytoplasmic ribonucleopro
tein granule
 IDA cellular_component
GO:0038096 Fc-gamma receptor signali
ng pathway involved in ph
agocytosis
 TAS biological_process
GO:0042802 identical protein binding
 IPI molecular_function
GO:0042802 identical protein binding
 IPI molecular_function
GO:0042802 identical protein binding
 IPI molecular_function
GO:0043044 ATP-dependent chromatin r
emodeling
 IDA biological_process
GO:0043234 protein complex
 IDA cellular_component
GO:0045815 positive regulation of ge
ne expression, epigenetic
 TAS biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
 TAS biological_process
GO:0048013 ephrin receptor signaling
pathway
 TAS biological_process
GO:0050998 nitric-oxide synthase bin
ding
 IPI molecular_function
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070527 platelet aggregation
 IMP biological_process
GO:0070688 MLL5-L complex
 IDA cellular_component
GO:0072562 blood microparticle
 IDA cellular_component
GO:0097433 dense body
 ISS cellular_component
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
 IDA molecular_function
GO:0000980 RNA polymerase II distal
enhancer sequence-specifi
c DNA binding
 IDA molecular_function
GO:0031492 nucleosomal DNA binding
 IDA molecular_function
GO:0000790 nuclear chromatin
 IDA cellular_component
GO:0001895 retina homeostasis
 IEP biological_process
GO:0005200 structural constituent of
cytoskeleton
 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: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:0005615 extracellular space
 IDA cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005737 cytoplasm
 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: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: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: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:0005856 cytoskeleton
 ISS cellular_component
GO:0005856 cytoskeleton
 TAS cellular_component
GO:0005886 plasma membrane
 ISS cellular_component
GO:0005886 plasma membrane
 ISS cellular_component
GO:0005886 plasma membrane
 ISS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005925 focal adhesion
 IDA cellular_component
GO:0006928 movement of cell or subce
llular component
 TAS biological_process
GO:0006928 movement of cell or subce
llular component
 TAS biological_process
GO:0016020 membrane
 IDA cellular_component
GO:0019894 kinesin binding
 IPI molecular_function
GO:0021762 substantia nigra developm
ent
 IEP biological_process
GO:0030529 intracellular ribonucleop
rotein complex
 IDA cellular_component
GO:0030957 Tat protein binding
 IPI molecular_function
GO:0034329 cell junction assembly
 TAS biological_process
GO:0035267 NuA4 histone acetyltransf
erase complex
 IDA cellular_component
GO:0036464 cytoplasmic ribonucleopro
tein granule
 IDA cellular_component
GO:0038096 Fc-gamma receptor signali
ng pathway involved in ph
agocytosis
 TAS biological_process
GO:0042802 identical protein binding
 IPI molecular_function
GO:0042802 identical protein binding
 IPI molecular_function
GO:0042802 identical protein binding
 IPI molecular_function
GO:0043044 ATP-dependent chromatin r
emodeling
 IDA biological_process
GO:0043234 protein complex
 IDA cellular_component
GO:0045815 positive regulation of ge
ne expression, epigenetic
 TAS biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
 TAS biological_process
GO:0048013 ephrin receptor signaling
pathway
 TAS biological_process
GO:0050998 nitric-oxide synthase bin
ding
 IPI molecular_function
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070527 platelet aggregation
 IMP biological_process
GO:0070688 MLL5-L complex
 IDA cellular_component
GO:0072562 blood microparticle
 IDA cellular_component
GO:0097433 dense body
 ISS cellular_component
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
 IDA molecular_function
GO:0000980 RNA polymerase II distal
enhancer sequence-specifi
c DNA binding
 IDA molecular_function
GO:0031492 nucleosomal DNA binding
 IDA molecular_function

KEGG pathways

hsa05205  Proteoglycans in cancer
hsa04015  Rap1 signaling pathway
hsa04510  Focal adhesion
hsa05418  Fluid shear stress and atherosclerosis
hsa05164  Influenza A
hsa04810  Regulation of actin cytoskeleton
hsa04210  Apoptosis
hsa04390  Hippo signaling pathway
hsa04919  Thyroid hormone signaling pathway
hsa04145  Phagosome
hsa04670  Leukocyte transendothelial migration
hsa04520  Adherens junction
hsa05132  Salmonella infection
hsa04611  Platelet activation
hsa04921  Oxytocin signaling pathway
hsa04530  Tight junction
hsa05410  Hypertrophic cardiomyopathy
hsa05414  Dilated cardiomyopathy
hsa05416  Viral myocarditis
hsa05100  Bacterial invasion of epithelial cells
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05130  Pathogenic Escherichia coli infection
hsa05131  Shigellosis
hsa04971  Gastric acid secretion
hsa05110  Vibrio cholerae infection

Diseases

Associated diseases References
Baraitser-winter syndrome 1 OMIM: 102630
Dystonia OMIM: 102630, KEGG: H01255
Endometriosis PMID: 16750201
Idiopathic premature ovarian failure (POF) PMID: 21890413
Male infertility PMID: 3285991
Polycystic ovary syndrome (PCOS) PMID: 22052386
Endometriosis INFBASE16750201

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
16750201 Endometrio
sis

Vimentin
beta-actin
ATP synthase beta
 Show abstract