ACTA1 | ENSG00000143632 | NCBI 58

Details for: ACTA1

Gene ID: 58

Symbol: ACTA1

Ensembl ID: ENSG00000143632

Description: actin alpha 1, skeletal muscle

Associated with

Striated muscle contraction
(R-HSA-390522)
Actin cytoskeleton
(GO:0015629)
Actin filament
(GO:0005884)
Adp binding
(GO:0043531)
Atp binding
(GO:0005524)
Blood microparticle
(GO:0072562)
Cell body
(GO:0044297)
Cellular response to organonitrogen compound
(GO:0071417)
Cytosol
(GO:0005829)
Extracellular exosome
(GO:0070062)
Extracellular space
(GO:0005615)
Filopodium
(GO:0030175)
Hydrolase activity
(GO:0016787)
Lamellipodium
(GO:0030027)
Mesenchyme migration
(GO:0090131)
Muscle contraction
(GO:0006936)
Myosin binding
(GO:0017022)
Positive regulation of gene expression
(GO:0010628)
Protein binding
(GO:0005515)
Response to extracellular stimulus
(GO:0009991)
Response to mechanical stimulus
(GO:0009612)
Response to steroid hormone
(GO:0048545)
Sarcomere
(GO:0030017)
Skeletal muscle fiber adaptation
(GO:0043503)
Skeletal muscle fiber development
(GO:0048741)
Skeletal muscle thin filament assembly
(GO:0030240)
Stress fiber
(GO:0001725)
Striated muscle thin filament
(GO:0005865)
Structural constituent of cytoskeleton
(GO:0005200)

Other Information

Proteins

Actin, alpha skeletal muscle

Genular Protein ID: 2576163141

Symbol: ACTS_HUMAN

Name: Actin, alpha skeletal muscle

UniProtKB Accession Codes:

P68133 P02568 P99020 Q5T8M9

Database IDs:

Citations:

PubMed ID: 6190133

Title: Isolation and characterization of cDNA clones for human skeletal muscle alpha actin.

PubMed ID: 6190133

DOI: 10.1093/nar/11.11.3503

PubMed ID: 2907503

Title: Nucleotide sequence and expression of the human skeletal alpha-actin gene: evolution of functional regulatory domains.

PubMed ID: 2907503

DOI: 10.1016/0888-7543(88)90123-1

PubMed ID: 10508519

Title: Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

PubMed ID: 10508519

DOI: 10.1038/13837

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10958653

Title: Myotilin is mutated in limb girdle muscular dystrophy 1A.

PubMed ID: 10958653

DOI: 10.1093/hmg/9.14.2141

PubMed ID: 16501887

Title: The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins.

PubMed ID: 16501887

DOI: 10.1007/s00018-005-5533-1

PubMed ID: 19015515

Title: Connecting actin monomers by iso-peptide bond is a toxicity mechanism of the Vibrio cholerae MARTX toxin.

PubMed ID: 19015515

DOI: 10.1073/pnas.0808082105

PubMed ID: 21908771

Title: The first identification of lysine malonylation substrates and its regulatory enzyme.

PubMed ID: 21908771

DOI: 10.1074/mcp.m111.012658

PubMed ID: 23673617

Title: ALKBH4-dependent demethylation of actin regulates actomyosin dynamics.

PubMed ID: 23673617

DOI: 10.1038/ncomms2863

PubMed ID: 26228148

Title: ACD toxin-produced actin oligomers poison formin-controlled actin polymerization.

PubMed ID: 26228148

DOI: 10.1126/science.aab4090

PubMed ID: 30626964

Title: SETD3 is an actin histidine methyltransferase that prevents primary dystocia.

PubMed ID: 30626964

DOI: 10.1038/s41586-018-0821-8

PubMed ID: 11333380

Title: Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

PubMed ID: 11333380

DOI: 10.1086/320605

PubMed ID: 12921789

Title: Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

PubMed ID: 12921789

DOI: 10.1016/s0960-8966(03)00101-9

PubMed ID: 11166164

Title: Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.

PubMed ID: 11166164

DOI: 10.1016/s0960-8966(00)00167-x

PubMed ID: 15236405

Title: Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

PubMed ID: 15236405

DOI: 10.1002/ana.20157

PubMed ID: 15468086

Title: Actin mutations are one cause of congenital fibre type disproportion.

PubMed ID: 15468086

DOI: 10.1002/ana.20260

PubMed ID: 15198992

Title: Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.

PubMed ID: 15198992

DOI: 10.1093/hmg/ddh185

PubMed ID: 15520409

Title: Missense mutations of ACTA1 cause dominant congenital myopathy with cores.

PubMed ID: 15520409

DOI: 10.1136/jmg.2004.020271

PubMed ID: 15336687

Title: Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).

PubMed ID: 15336687

DOI: 10.1016/j.nmd.2004.05.016

PubMed ID: 16427282

Title: Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.

PubMed ID: 16427282

DOI: 10.1016/j.nmd.2005.11.004

PubMed ID: 16945537

Title: Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.

PubMed ID: 16945537

DOI: 10.1016/j.nmd.2006.07.005

PubMed ID: 17387733

Title: The pathogenesis of ACTA1-related congenital fiber type disproportion.

PubMed ID: 17387733

DOI: 10.1002/ana.21112

PubMed ID: 17705262

Title: Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.

PubMed ID: 17705262

DOI: 10.1002/ana.21200

PubMed ID: 22442437

Title: Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.

PubMed ID: 22442437

DOI: 10.1212/wnl.0b013e31824e8ebe

PubMed ID: 23650303

Title: Nemaline myopathy with dilated cardiomyopathy in childhood.

PubMed ID: 23650303

DOI: 10.1542/peds.2012-1139

PubMed ID: 25938801

Title: Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.

PubMed ID: 25938801

DOI: 10.1001/jamaneurol.2015.37

PubMed ID: 25635128

Title: Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.

PubMed ID: 25635128

DOI: 10.1136/jmedgenet-2014-102819

PubMed ID: 29274205

Title: Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies.

PubMed ID: 29274205

DOI: 10.1002/ajmg.a.38577

Sequence Information:

Length: 377
Mass: 42051
Checksum: DF2A3A046346A179
Sequence:

MCDEDETTAL VCDNGSGLVK AGFAGDDAPR AVFPSIVGRP RHQGVMVGMG QKDSYVGDEA 
QSKRGILTLK YPIEHGIITN WDDMEKIWHH TFYNELRVAP EEHPTLLTEA PLNPKANREK 
MTQIMFETFN VPAMYVAIQA VLSLYASGRT TGIVLDSGDG VTHNVPIYEG YALPHAIMRL 
DLAGRDLTDY LMKILTERGY SFVTTAEREI VRDIKEKLCY VALDFENEMA TAASSSSLEK 
SYELPDGQVI TIGNERFRCP ETLFQPSFIG MESAGIHETT YNSIMKCDID IRKDLYANNV 
MSGGTTMYPG IADRMQKEIT ALAPSTMKIK IIAPPERKYS VWIGGSILAS LSTFQQMWIT 
KQEYDEAGPS IVHRKCF

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: ACTA1

Associated with

Other Information

Isolation and characterization of cDNA clones for human skeletal muscle alpha actin. PubMed ID: 6190133

Nucleotide sequence and expression of the human skeletal alpha-actin gene: evolution of functional regulatory domains. PubMed ID: 2907503

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. PubMed ID: 10508519

The DNA sequence and biological annotation of human chromosome 1. PubMed ID: 16710414

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Myotilin is mutated in limb girdle muscular dystrophy 1A. PubMed ID: 10958653

The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins. PubMed ID: 16501887

Connecting actin monomers by iso-peptide bond is a toxicity mechanism of the Vibrio cholerae MARTX toxin. PubMed ID: 19015515

The first identification of lysine malonylation substrates and its regulatory enzyme. PubMed ID: 21908771

ALKBH4-dependent demethylation of actin regulates actomyosin dynamics. PubMed ID: 23673617

ACD toxin-produced actin oligomers poison formin-controlled actin polymerization. PubMed ID: 26228148

SETD3 is an actin histidine methyltransferase that prevents primary dystocia. PubMed ID: 30626964

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. PubMed ID: 11333380

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). PubMed ID: 12921789

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. PubMed ID: 11166164

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. PubMed ID: 15236405

Actin mutations are one cause of congenital fibre type disproportion. PubMed ID: 15468086

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. PubMed ID: 15198992

Missense mutations of ACTA1 cause dominant congenital myopathy with cores. PubMed ID: 15520409

Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1). PubMed ID: 15336687

Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. PubMed ID: 16427282

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. PubMed ID: 16945537

The pathogenesis of ACTA1-related congenital fiber type disproportion. PubMed ID: 17387733

Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. PubMed ID: 17705262

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. PubMed ID: 22442437

Nemaline myopathy with dilated cardiomyopathy in childhood. PubMed ID: 23650303

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. PubMed ID: 25938801

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. PubMed ID: 25635128

Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies. PubMed ID: 29274205