Homo sapiens Gene: ACTN1
Summary
InnateDB Gene IDBG-10222.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ACTN1
Gene Name actinin, alpha 1
Synonyms BDPLT15
Species Homo sapiens
Ensembl Gene ENSG00000072110
Encoded Proteins
actinin, alpha 1
actinin, alpha 1
actinin, alpha 1
actinin, alpha 1
actinin, alpha 1
actinin, alpha 1
actinin, alpha 1
actinin, alpha 1
actinin, alpha 1
actinin, alpha 1
actinin, alpha 1
actinin, alpha 1
actinin, alpha 1
actinin, alpha 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:68874143-68979440
Strand Reverse strand
Band q24.1
Transcripts
ENST00000193403 ENSP00000193403
ENST00000376839 ENSP00000366035
ENST00000394419 ENSP00000377941
ENST00000438964 ENSP00000414272
ENST00000556083
ENST00000553882
ENST00000555075 ENSP00000452254
ENST00000538545 ENSP00000439828
ENST00000544964 ENSP00000444422
ENST00000553290 ENSP00000450625
ENST00000556432
ENST00000556343
ENST00000555616 ENSP00000450903
ENST00000556433 ENSP00000450764
ENST00000554508
ENST00000554158
ENST00000553370 ENSP00000450925
ENST00000553779 ENSP00000450618
ENST00000556571 ENSP00000452423
ENST00000553659 ENSP00000451086
ENST00000556203
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 120 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.
Experimentally validated
Total 122 [view]
Protein-Protein 121 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 9 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003725 double-stranded RNA binding
GO:0003779 actin binding
GO:0005178 integrin binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0017166 vinculin binding
GO:0019904 protein domain specific binding
GO:0044325 ion channel binding
GO:0051015 actin filament binding
Biological Process
GO:0002576 platelet degranulation
GO:0007596 blood coagulation
GO:0030168 platelet activation
GO:0030198 extracellular matrix organization
GO:0034329 cell junction assembly
GO:0042981 regulation of apoptotic process
GO:0048041 focal adhesion assembly
GO:0051017 actin filament bundle assembly
GO:0051271 negative regulation of cellular component movement
GO:0051764 actin crosslink formation
Cellular Component
GO:0001725 stress fiber
GO:0001726 ruffle
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005916 fascia adherens
GO:0005925 focal adhesion
GO:0030018 Z disc
GO:0030864 cortical actin cytoskeleton
GO:0031093 platelet alpha granule lumen
GO:0031143 pseudopodium
GO:0042995 cell projection
GO:0043197 dendritic spine
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
EGFR1 pathway
REACTOME
Platelet degranulation pathway
Response to elevated platelet cytosolic Ca2+ pathway
Nephrin interactions pathway
Regulation of cytoskeletal remodeling and cell spreading by IPP complex components pathway
Cell-extracellular matrix interactions pathway
Cell-Cell communication pathway
Extracellular matrix organization pathway
Cell junction organization pathway
Syndecan interactions pathway
Platelet activation, signaling and aggregation pathway
Non-integrin membrane-ECM interactions pathway
Hemostasis pathway
KEGG
Regulation of actin cytoskeleton pathway
Adherens junction pathway
Leukocyte transendothelial migration pathway
Tight junction pathway
Focal adhesion pathway
Systemic lupus erythematosus pathway
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
Amoebiasis pathway
INOH
PID NCI
Signaling events mediated by focal adhesion kinase
Integrin-linked kinase signaling
Syndecan-4-mediated signaling events
Stabilization and expansion of the E-cadherin adherens junction
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.509765 Hs.653481
RefSeq NM_001102 NM_001130004 NM_001130005
HUGO
OMIM
CCDS CCDS45129 CCDS45130 CCDS9792
HPRD 00020
IMGT
EMBL
GenPept
RNA Seq Atlas