Gene table of ACTG1 : actin gamma 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with ACTG1OMIM linkNumber of associated genesgenes
PS243310BARAITSER-WINTER SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 2ACTG1, ACTB
PS124900DEAFNESS, AUTOSOMAL DOMINANTClinVar, OMIM, HUMSAVAR link to OMIM 33GJB2, DIAPH1, DFNA5, CEACAM16, CRYM, CCDC50, GJB3, KCNQ4, POU4F3, SLC17A8, MYO1A, TBC1D24, MYO7A, COL11A2, MIR96, GJB6, OSBPL2, TMC1, MYO6, P2RX2, EYA4, ACTG1, HOMER2, SIX1, WFS1, KITLG, DIABLO, COCH, TECTA, MYH9, MYH14, TNC, GRHL2

Download the gene annotation in CSV format

Annotation of the gene ACTG1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Salmonella infectionhsa051326.29
Shigellosishsa051316.74
Pathogenic Escherichia coli infectionhsa051306.99
Platelet activationhsa046115.66
Tight junctionhsa045305.53
Leukocyte transendothelial migrationhsa046705.74
Phagosomehsa041455.27
Focal adhesionhsa045104.92
Hypertrophic cardiomyopathy (HCM)hsa054106.21
Arrhythmogenic right ventricular cardiomyopathy (ARVC)hsa054126.32
Dilated cardiomyopathyhsa054146.08
Viral myocarditishsa054166.45
Oxytocin signaling pathwayhsa049215.4
Influenza Ahsa051645.21
Bacterial invasion of epithelial cellshsa051006.34
Proteoglycans in cancerhsa052055.02
Rap1 signaling pathwayhsa040154.97
Adherens junctionhsa045206.26
Hippo signaling pathwayhsa043905.37
Thyroid hormone signaling pathwayhsa049195.82
Regulation of actin cytoskeletonhsa048104.9
Vibrio cholerae infectionhsa051106.86
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Interleukin-2 signalingR-HSA-4519275.05
Recycling pathway of L1R-HSA-4372397.62
Cell-Cell communicationR-HSA-15009315.87
Developmental BiologyR-HSA-12667383.48
Signaling by VEGFR-HSA-1941384.66
FCERI mediated MAPK activationR-HSA-28717964.32
IRS-mediated signallingR-HSA-1123994.87
VEGFA-VEGFR2 PathwayR-HSA-44200974.7
L1CAM interactionsR-HSA-3737606.19
Translocation of GLUT4 to the plasma membraneR-HSA-14451486.77
Gap junction trafficking and regulationR-HSA-1578587.52
Signaling by EGFRR-HSA-1779294.59
Vesicle-mediated transportR-HSA-56536564.33
EPH-ephrin mediated repulsion of cellsR-HSA-39286657.34
EPHB-mediated forward signalingR-HSA-39286627.62
DAP12 interactionsR-HSA-21721274.56
Formation of annular gap junctionsR-HSA-1960259.52
Downstream signaling of activated FGFR4R-HSA-56547164.71
Signaling by ERBB2R-HSA-12279864.66
VEGFR2 mediated cell proliferationR-HSA-52189215.07
GRB2 events in ERBB2 signalingR-HSA-19636405.15
Frs2-mediated activationR-HSA-1709685.12
Downstream signal transductionR-HSA-1867634.65
RAF/MAP kinase cascadeR-HSA-56730015.15
Signalling to p38 via RIT and RINR-HSA-1877065.12
Cell-cell junction organizationR-HSA-4212707.03
FRS-mediated FGFR2 signalingR-HSA-56547005.14
FRS-mediated FGFR4 signalingR-HSA-56547125.14
FRS-mediated FGFR3 signalingR-HSA-56547065.14
Downstream signaling of activated FGFR3R-HSA-56547084.71
RHO GTPases activate IQGAPsR-HSA-56264678.34
Fc epsilon receptor (FCERI) signalingR-HSA-24542024.03
Interleukin receptor SHC signalingR-HSA-9125265.09
Innate Immune SystemR-HSA-1682493.17
Cell junction organizationR-HSA-4467286.51
Gap junction degradationR-HSA-1908739.4
NGF signalling via TRKA from the plasma membraneR-HSA-1870374.51
Prolonged ERK activation eventsR-HSA-1698935.11
Signaling by FGFR2R-HSA-56547384.68
GRB2 events in EGFR signalingR-HSA-1798125.15
Signaling by FGFR1R-HSA-56547364.69
Axon guidanceR-HSA-4224753.93
Signaling by LeptinR-HSA-25865525.1
MAP2K and MAPK activationR-HSA-56741357.66
IGF1R signaling cascadeR-HSA-24289244.85
IRS-related events triggered by IGF1RR-HSA-24289284.85
Signaling by Insulin receptorR-HSA-747524.73
Insulin receptor signalling cascadeR-HSA-747514.85
Downstream signaling of activated FGFR1R-HSA-56546874.71
Gastrin-CREB signalling pathway via PKC and MAPKR-HSA-8819074.26
Fcgamma receptor (FCGR) dependent phagocytosisR-HSA-20294805.07
Regulation of actin dynamics for phagocytic cup formationR-HSA-20294825.23
Immune SystemR-HSA-1682562.37
Signalling to RASR-HSA-1670445.08
Downstream signaling of activated FGFR2R-HSA-56546964.71
SHC1 events in ERBB4 signalingR-HSA-12503475.15
SHC1 events in EGFR signalingR-HSA-1803365.15
FRS-mediated FGFR1 signalingR-HSA-56546935.14
SHC1 events in ERBB2 signalingR-HSA-12501965.15
ARMS-mediated activationR-HSA-1709845.12
Cell-extracellular matrix interactionsR-HSA-4463538.81
Signaling by PDGFR-HSA-1867974.53
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)R-HSA-24041924.85
RHO GTPases Activate WASPs and WAVEsR-HSA-56632137.85
Signaling by InterleukinsR-HSA-4491474.71
Signaling by Rho GTPasesR-HSA-1943154.43
Cytokine Signaling in Immune systemR-HSA-12802153.74
SOS-mediated signallingR-HSA-1124125.15
Signaling by ERBB4R-HSA-12363944.7
Adherens junctions interactionsR-HSA-4189907.98
MAPK1/MAPK3 signalingR-HSA-56849965.11
MAPK family signaling cascadesR-HSA-56830574.89
Signalling by NGFR-HSA-1665204.23
Gap junction traffickingR-HSA-1908287.59
Signaling by FGFR4R-HSA-56547434.69
Signaling by FGFR3R-HSA-56547414.69
RHO GTPases Activate ForminsR-HSA-56632206.01
Signaling by FGFRR-HSA-1902364.67
Interaction between L1 and AnkyrinsR-HSA-4450958.03
Signaling by SCF-KITR-HSA-14335574.73
Membrane TraffickingR-HSA-1999915.26
NCAM signaling for neurite out-growthR-HSA-3751654.9
DAP12 signalingR-HSA-24244914.64
Interleukin-3, 5 and GM-CSF signalingR-HSA-5129884.99
EPH-Ephrin signalingR-HSA-26823346.43
RHO GTPase EffectorsR-HSA-1952584.94
Signaling by GPCRR-HSA-3727902.68
Signalling to ERKsR-HSA-1876875.04
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
structural constituent of cytoskeletonGO:00052005.12
ubiquitin-like protein ligase bindingGO:00443894.15
purine ribonucleoside triphosphate bindingGO:00356392.22
enzyme bindingGO:00198992.27
bindingGO:00054880.18
nucleotide bindingGO:00001661.96
heterocyclic compound bindingGO:19013631.06
nucleoside phosphate bindingGO:19012651.96
nucleoside bindingGO:00018822.21
structural molecule activityGO:00051983.1
purine nucleoside bindingGO:00018832.22
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
identical protein bindingGO:00428022.63
small molecule bindingGO:00360941.89
ubiquitin protein ligase bindingGO:00316254.17
adenyl nucleotide bindingGO:00305542.4
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
adenyl ribonucleotide bindingGO:00325592.41
ATP bindingGO:00055242.43
protein bindingGO:00055150.46
purine ribonucleotide bindingGO:00325552.2
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19