Actinin alpha 3 (Q21491079)

EF-hand domain pair

1 reference

EF-hand domain, protein family

1 reference

Calponin homology domain, protein family

1 reference

EF-hand, Ca insensitive, protein family

1 reference

Actinin-type actin-binding domain, conserved site, protein family

1 reference

Spectrin repeat, protein family

1 reference

Spectrin/alpha-actinin, protein family

1 reference

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

1 reference

25 May 2022

1 reference

25 May 2022

1 reference

14 February 2019

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

protein-macromolecule adaptor activity

IEA

1 reference

14 February 2019

Molecular diversity of myofibrillar proteins: gene regulation and functional significance

GOA

curator

Mouse Genome Informatics

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

protein homodimerization activity

TAS

1 reference

14 February 2019

Synaptopodin regulates the actin-bundling activity of alpha-actinin in an isoform-specific manner

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

1 reference

14 February 2019

A new role for the architecture of microvillar actin bundles in apical retention of membrane proteins

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

striated muscle thin filament

IDA

1 reference

14 February 2019

Molecular diversity of myofibrillar proteins: gene regulation and functional significance

GOA

curator

Mouse Genome Informatics

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

intracellular anatomical structure

TAS

1 reference

1 January 2018

α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse

http://www.ebi.ac.uk/QuickGO/annotations?protein=O88990&geneProductId=UniProtKB:O88990

1 reference

14 February 2019

Molecular diversity of myofibrillar proteins: gene regulation and functional significance

GOA

curator

Mouse Genome Informatics

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

positive regulation of skeletal muscle fiber development

IDA

1 reference

14 February 2019

An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

negative regulation of calcineurin-NFAT signaling cascade

1 reference

14 February 2019

α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

negative regulation of glycolytic process

1 reference

14 February 2019

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

osteoblast differentiation

1 reference

14 February 2019

α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

negative regulation of relaxation of muscle

1 reference

14 February 2019

An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

1 reference

14 February 2019

α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

transition between fast and slow fiber

1 reference

14 February 2019

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

positive regulation of fast-twitch skeletal muscle fiber contraction

1 reference

14 February 2019

An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

positive regulation of bone mineralization involved in bone maturation

1 reference

14 February 2019

α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

regulation of aerobic respiration

1 reference

14 February 2019

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

negative regulation of oxidative phosphorylation

positive regulation of glucose catabolic process to lactate via pyruvate

1 reference

14 February 2019

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

positive regulation of skeletal muscle tissue growth

regulation of muscle system process

1 reference

14 February 2019

An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization

skeletal muscle atrophy

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

response to denervation involved in regulation of muscle adaptation

1 reference

14 February 2019

α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

regulation of the force of skeletal muscle contraction

1 reference

14 February 2019

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

negative regulation of cold-induced thermogenesis

1 reference

14 February 2019

Altered Ca2+ kinetics associated with α-actinin-3 deficiency may explain positive selection for ACTN3 null allele in human evolution

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O88990

has part(s)

Spectrin/alpha-actinin

1 reference

Calponin homology domain

1 reference

EF-hand, Ca insensitive

1 reference

Spectrin repeat

1 reference

EF-hand domain

1 reference

Actinin-type actin-binding domain, conserved site

1 reference