act-4

Caenorhabditis elegans

Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in actin cytoskeleton organization and mitotic cytokinesis. Located in striated muscle thin filament. Expressed in body wall musculature; gonad; spermatheca; and vulval muscle. Human ortholog(s) of this gene implicated in several diseases, including Baraitser-Winter syndrome 1; Baraitser-Winter syndrome 2; and autosomal dominant nonsyndromic deafness 20. Is an ortholog of human ACTB (actin beta).

act-3

Caenorhabditis elegans

Expressed in gonad and head. Human ortholog(s) of this gene implicated in several diseases, including Baraitser-Winter syndrome 1; Baraitser-Winter syndrome 2; and autosomal dominant nonsyndromic deafness 20. Is an ortholog of human ACTB (actin beta). Human ACTB contributes to nucleosomal DNA binding activity. Human ACTB enables several functions, including ATP hydrolysis activity; Tat protein binding activity; and enzyme binding activity. Human ACTB is a structural constituent of postsynaptic actin cytoskeleton.

act-1

Caenorhabditis elegans

Predicted to be a structural constituent of cytoskeleton. Involved in cortical actin cytoskeleton organization; embryo development; and mitotic cytokinesis. Located in striated muscle thin filament. Expressed in body wall musculature and gonad. Human ortholog(s) of this gene implicated in several diseases, including Baraitser-Winter syndrome 1; Baraitser-Winter syndrome 2; and autosomal dominant nonsyndromic deafness 20. Is an ortholog of human ACTB (actin beta).

act-2

Caenorhabditis elegans

Predicted to enable ATP binding activity. Involved in several processes, including cortical actin cytoskeleton organization; cytoskeleton-dependent cytokinesis; and embryo development. Located in actin filament and cell cortex. Expressed in body wall musculature; gonad; hypodermis; and neurons. Human ortholog(s) of this gene implicated in several diseases, including Baraitser-Winter syndrome 1; Baraitser-Winter syndrome 2; and autosomal dominant nonsyndromic deafness 20. Is an ortholog of human ACTB (actin beta).

Actg1l1

Rattus norvegicus

A structural constituent of postsynaptic actin cytoskeleton. Predicted to be involved in several processes, including actin cytoskeleton organization; protein localization to bicellular tight junction; and regulation of transepithelial transport. Is active in postsynaptic actin cytoskeleton and presynaptic actin cytoskeleton. Human ortholog(s) of this gene implicated in Baraitser-Winter syndrome 2 and autosomal dominant nonsyndromic deafness 20. Orthologous to human ACTG1 (actin gamma 1).

Actg1

Rattus norvegicus

A structural constituent of postsynaptic actin cytoskeleton. Involved in response to calcium ion and response to mechanical stimulus. Is active in postsynaptic actin cytoskeleton and presynaptic actin cytoskeleton. Human ortholog(s) of this gene implicated in Baraitser-Winter syndrome 2 and autosomal dominant nonsyndromic deafness 20. Orthologous to human ACTG1 (actin gamma 1); PARTICIPATES IN auditory mechanotransduction pathway; arrhythmogenic right ventricular cardiomyopathy pathway; dilated cardiomyopathy pathway; INTERACTS WITH (+)-schisandrin B; 1-naphthyl isothiocyanate; 17alpha-ethynylestradiol.

Actb

Homo sapiens

This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]

Actb

Rattus norvegicus

Enables protein kinase binding activity. Involved in several processes, including cellular response to electrical stimulus; regulation of norepinephrine uptake; and response to immobilization stress. Located in actin cytoskeleton; axon; and membrane raft. Part of protein-containing complex. Used to study metabolic dysfunction-associated steatotic liver disease. Biomarker of temporal lobe epilepsy. Human ortholog(s) of this gene implicated in Baraitser-Winter syndrome 1 and thrombocytopenia. Orthologous to human ACTB (actin beta); PARTICIPATES IN auditory mechanotransduction pathway; INO80 family mediated chromatin remodeling pathway; mitochondria transport pathway; INTERACTS WITH (+)-catechin; (+)-epicatechin-3-O-gallate; (3,4-dihydroxyphenyl)acetic acid.

Actg1

Homo sapiens

Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. Actin gamma 1, encoded by this gene, is a cytoplasmic actin found in all cell types. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss and also with Baraitser-Winter syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]