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MGP000042

UniProt Annotations

Entry Information
Gene Nameactinin, alpha 1
Protein EntryACTN1_HUMAN
UniProt IDP12814
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=P12814-1; Sequence=Displayed; Name=2; IsoId=P12814-2; Sequence=VSP_041264; Name=3; IsoId=P12814-3; Sequence=VSP_043525; Name=4; IsoId=P12814-4; Sequence=VSP_041264, VSP_047763;
DiseaseBleeding 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:0000269|PubMed:23434115}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionF-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.
InteractionP27958:- (xeno); NbExp=7; IntAct=EBI-351710, EBI-6904388; P12931:SRC; NbExp=2; IntAct=EBI-351710, EBI-621482; Q8VC66:Ssx2ip (xeno); NbExp=3; IntAct=EBI-351710, EBI-6654049; Q8WZ42:TTN; NbExp=2; IntAct=EBI-351710, EBI-681210;
SimilarityBelongs to the alpha-actinin family. {ECO:0000305}.
SimilarityContains 1 actin-binding domain. {ECO:0000305}.
SimilarityContains 2 CH (calponin-homology) domains. {ECO:0000255|PROSITE-ProRule:PRU00044}.
SimilarityContains 2 EF-hand domains. {ECO:0000255|PROSITE- ProRule:PRU00448}.
SimilarityContains 4 spectrin repeats. {ECO:0000305}.
Subcellular LocationCytoplasm, cytoskeleton {ECO:0000269|PubMed:7750553}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed: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}.
SubunitHomodimer; antiparallel. Interacts with DDN, MYOZ2, PDLIM2, TTID and LPP. Interacts with PSD. Interacts with MICALL2 (By similarity). {ECO:0000250}.
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