Gene table of ACTN1 : actinin alpha 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with ACTN1OMIM linkNumber of associated genesgenes
PS231200BLEEDING DISORDER, PLATELET-TYPEClinVar, OMIM, HUMSAVAR link to OMIM 21NBEAL2, ANO6, GP1BA, ITGA2, GFI1B, ITGA2B, PLAU, PRKACG, P2RY12, ACTN1, TBXAS1, P2RX1, GP6, CD36, SLFN14, ITGB3, GP9, GP1BB, RASGRP2, TBXA2R, MYH9

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Annotation of the gene ACTN1

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
Systemic lupus erythematosushsa053225.95
Viral carcinogenesishsa052035.08
Tight junctionhsa045305.53
Leukocyte transendothelial migrationhsa046705.74
Amoebiasishsa051465.82
Focal adhesionhsa045104.92
Adherens junctionhsa045206.26
Arrhythmogenic right ventricular cardiomyopathy (ARVC)hsa054126.32
Regulation of actin cytoskeletonhsa048104.9
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Platelet degranulation R-HSA-1146086.68
Platelet activation, signaling and aggregationR-HSA-760025.15
Regulation of cytoskeletal remodeling and cell spreading by IPP complex componentsR-HSA-4463889.98
Cell junction organizationR-HSA-4467286.51
Response to elevated platelet cytosolic Ca2+R-HSA-760056.59
Cell-Cell communicationR-HSA-15009315.87
Extracellular matrix organizationR-HSA-14742444.91
Cell-extracellular matrix interactionsR-HSA-4463538.81
Syndecan interactionsR-HSA-30001708.23
Non-integrin membrane-ECM interactionsR-HSA-30001717.1
HemostasisR-HSA-1095823.98
Nephrin interactionsR-HSA-3737538.46
Associated GO terms for Molecular function
GO termGO IDGO IC
vinculin bindingGO:00171667.34
macromolecular complex bindingGO:00448772.61
bindingGO:00054880.18
nucleic acid bindingGO:00036761.44
ion channel bindingGO:00443255.02
heterocyclic compound bindingGO:19013631.06
cation bindingGO:00431691.4
transcription coactivator activityGO:00037134.04
transcription cofactor activityGO:00037123.44
ion bindingGO:00431671.36
actin bindingGO:00037793.74
calcium ion bindingGO:00055093.17
transcription factor activity, transcription factor bindingGO:00009893.36
transcription factor activity, protein bindingGO:00009883.35
protein complex bindingGO:00324033.09
metal ion bindingGO:00468721.41
identical protein bindingGO:00428022.63
protein homodimerization activityGO:00428033.16
integrin bindingGO:00051785.07
actin filament bindingGO:00510154.93
ligand-dependent nuclear receptor transcription coactivator activityGO:00303745.77
cell adhesion molecule bindingGO:00508394.5
protein dimerization activityGO:00469832.72
cytoskeletal protein bindingGO:00080923.02
organic cyclic compound bindingGO:00971591.05
double-stranded RNA bindingGO:00037255.58
RNA bindingGO:00037232.36
protein bindingGO:00055150.46
receptor bindingGO:00051022.43