InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ACTN1

Summary

InnateDB Protein

IDBP-373144.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ACTN1

Protein Name

actinin, alpha 1

Synonyms

BDPLT15;

Species

Homo sapiens

Ensembl Protein

ENSP00000414272

InnateDB Gene

IDBG-10222 (ACTN1)

Protein Structure

UniProt Annotation

Function

F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

Subcellular Localization

Cytoplasm, cytoskeleton {ECO:0000269PubMed:7750553}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269PubMed:7750553}. Cell membrane {ECO:0000250}. Cell junction {ECO:0000250}. Cell projection, ruffle {ECO:0000250}. Note=Colocalizes with MYOZ2 and PPP3CA at the Z- line of heart and skeletal muscle. Colocalizes with PSD in membrane ruffles and central reticular structures (By similarity). {ECO:0000250}.

Disease Associations

Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]: An autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities. {ECO:0000269PubMed:23434115}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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:0005178	integrin binding
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0017166	vinculin 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:0001726	ruffle
GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005856	cytoskeleton
GO:0005886	plasma membrane
GO:0005925	focal adhesion
GO:0030018	Z disc
GO:0031093	platelet alpha granule lumen
GO:0031143	pseudopodium
GO:0042995	cell projection
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR001715 Calponin homology domain
IPR002017 Spectrin repeat
IPR002048 EF-hand domain
IPR014837 EF-hand, Ca insensitive
IPR018159 Spectrin/alpha-actinin
IPR022613 Calmodulin-regulated spectrin-associated protein, CH domain

PFAM