ACTC1 | ENSG00000159251 | NCBI 70

Details for: ACTC1

Gene ID: 70

Symbol: ACTC1

Ensembl ID: ENSG00000159251

Description: actin alpha cardiac muscle 1

Associated with

Muscle contraction
(R-HSA-397014)
Rhoa gtpase cycle
(R-HSA-8980692)
Rhob gtpase cycle
(R-HSA-9013026)
Rho gtpase cycle
(R-HSA-9012999)
Signaling by rho gtpases
(R-HSA-194315)
Signaling by rho gtpases, miro gtpases and rhobtb3
(R-HSA-9716542)
Signal transduction
(R-HSA-162582)
Striated muscle contraction
(R-HSA-390522)
Actin-myosin filament sliding
(GO:0033275)
Actin filament
(GO:0005884)
Actin filament-based movement
(GO:0030048)
Actin filament organization
(GO:0007015)
Actomyosin structure organization
(GO:0031032)
Atp binding
(GO:0005524)
Blood microparticle
(GO:0072562)
Cardiac muscle tissue morphogenesis
(GO:0055008)
Cardiac myofibril assembly
(GO:0055003)
Cell body
(GO:0044297)
Cytoplasm
(GO:0005737)
Cytosol
(GO:0005829)
Extracellular exosome
(GO:0070062)
Extracellular space
(GO:0005615)
Filopodium
(GO:0030175)
Focal adhesion
(GO:0005925)
Glutamatergic synapse
(GO:0098978)
Heart contraction
(GO:0060047)
Hydrolase activity
(GO:0016787)
I band
(GO:0031674)
Lamellipodium
(GO:0030027)
Membrane
(GO:0016020)
Mesenchyme migration
(GO:0090131)
Microfilament motor activity
(GO:0000146)
Myosin binding
(GO:0017022)
Negative regulation of apoptotic process
(GO:0043066)
Positive regulation of gene expression
(GO:0010628)
Sarcomere
(GO:0030017)
Skeletal muscle thin filament assembly
(GO:0030240)

Other Information

Proteins

Actin, alpha cardiac muscle 1
B3KPP5_HUMAN

Genular Protein ID: 4090828517

Symbol: ACTC_HUMAN

Name: Actin, alpha cardiac muscle 1

UniProtKB Accession Codes:

P68032 P04270

Database IDs:

Citations:

PubMed ID: 6310553

Title: Molecular structure and evolutionary origin of human cardiac muscle actin gene.

PubMed ID: 6310553

DOI: 10.1073/pnas.79.19.5901

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: 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: 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: 9563954

Title: Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.

PubMed ID: 9563954

DOI: 10.1126/science.280.5364.750

PubMed ID: 10330430

Title: Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.

PubMed ID: 10330430

DOI: 10.1172/jci6460

PubMed ID: 10966831

Title: Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.

PubMed ID: 10966831

DOI: 10.1006/jmcc.2000.1204

PubMed ID: 14729850

Title: Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy.

PubMed ID: 14729850

DOI: 10.1136/jmg.2003.010447

PubMed ID: 17947298

Title: Alpha-cardiac actin mutations produce atrial septal defects.

PubMed ID: 17947298

DOI: 10.1093/hmg/ddm302

PubMed ID: 18403758

Title: Shared genetic causes of cardiac hypertrophy in children and adults.

PubMed ID: 18403758

DOI: 10.1056/nejmoa075463

Sequence Information:

Length: 377
Mass: 42019
Checksum: E5C10FA19730CAD2
Sequence:

MCDDEETTAL 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 
LSGGTTMYPG IADRMQKEIT ALAPSTMKIK IIAPPERKYS VWIGGSILAS LSTFQQMWIS 
KQEYDEAGPS IVHRKCF

Genular Protein ID: 1176050590

Symbol: B3KPP5_HUMAN

Name: N/A

UniProtKB Accession Codes:

B3KPP5

Database IDs:

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

Length: 186
Mass: 20944
Checksum: 45694094C71BCFBB
Sequence:

MKILTERGYS FVTTAEREIV RDIKEKLCYV ALDFENEMAT AASSSSLEKS YELPDGQVIT 
IGNERFRCPE TLFQPSFIGM ESAGIHETTY NSIMKCDIDI RKDLYANNVL SGGTTMYPGI 
ADRMQKEITA LAPSTMKIKI IAPPERKYSV WIGGSILASL STFQQMWISK QEYDEAGPSI 
VHRKCF

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: ACTC1

Associated with

Other Information

Molecular structure and evolutionary origin of human cardiac muscle actin gene. PubMed ID: 6310553

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

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

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

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. PubMed ID: 9563954

Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. PubMed ID: 10330430

Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. PubMed ID: 10966831

Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy. PubMed ID: 14729850

Alpha-cardiac actin mutations produce atrial septal defects. PubMed ID: 17947298

Shared genetic causes of cardiac hypertrophy in children and adults. PubMed ID: 18403758

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039